منابع

• Voigtmann, Franziska, et al. "Identification of a novel leptin receptor (LEPR) variant and proof of functional relevance directing treatment decisions in patients with morbid obesity." Metabolism116 (2021): 154438.
• Namjou, Bahram, et al. "Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants." International Journal of Obesity1 (2021): 155-169.
• Yu, Keping, et al. "Association between MC4R rs17782313 genotype and obesity: A meta-analysis." Gene733 (2020): 144372.
• Horikawa, Yukio. "Maturity‐onset diabetes of the young as a model for elucidating the multifactorial origin of type 2 diabetes mellitus." Journal of diabetes investigation4 (2018): 704-712.
• Yahaya, Tajudeen O., and Titilola F. Salisu. "A review of type 2 diabetes mellitus predisposing genes." Current diabetes reviews1 (2020): 52-61.
• Jiao, Yu-rui, et al. "5-HTT, BMPR2, EDN1, ENG, KCNA5 gene polymorphisms and susceptibility to pulmonary arterial hypertension: A meta-analysis." Gene680 (2019): 34-42.
• Noureldin, Mahmoud, Honghong Chen, and Donglin Bai. "Functional characterization of novel atrial fibrillation-linked GJA5 (Cx40) mutants." International journal of molecular sciences4 (2018): 977.
• Wilde, Arthur AM, and Ahmad S. Amin. "Clinical spectrum of SCN5A mutations: long QT syndrome, Brugada syndrome, and cardiomyopathy." JACC: Clinical Electrophysiology5 (2018): 569-579.
• Carrasquilla, Germán D., Malene Revsbech Christiansen, and Tuomas O. Kilpeläinen. "The Genetic Basis of Hypertriglyceridemia." Current atherosclerosis reports8 (2021): 1-10.
• Esteve-Luque, Virginia, et al. "Implication between Genetic Variants from APOA5 and ZPR1 and NAFLD Severity in Patients with Hypertriglyceridemia." Nutrients2 (2021): 552.
• Kovalic, Alexander J., et al. "Genetic and epigenetic culprits in the pathogenesis of nonalcoholic fatty liver disease." Journal of clinical and experimental hepatology4 (2018): 390-402.
• Kostopoulou, Eirini, Konstantinos Miliordos, and Bessie Spiliotis. "Genetics of primary congenital hypothyroidism—a review." Hormones2 (2021): 225-236.
• Lauffer, Peter, et al. "Mild isolated congenital central hypothyroidism due to a novel homozygous variant in TSHB: a case report." Thyroidja (2022).
• Kaur, Sukhvinder, et al. "Role of single nucleotide polymorphisms (SNPs) in common migraine." The Egyptian Journal of Neurology, Psychiatry and Neurosurgery1 (2019): 1-7.
• Guo, Yanjun, et al. "A genome-wide cross-phenotype meta-analysis of the association of blood pressure with migraine." Nature communications1 (2020): 1-11.
• Qiu, Shenqiang, et al. "Identification of differentially expressed genes and pathways crosstalk analysis in Rheumatoid and Osteoarthritis using next-generation sequencing and protein-protein networks." Saudi Journal of Biological Sciences8 (2021): 4656-4663.
• Trajanoska, Katerina, and Fernando Rivadeneira. "The genetic architecture of osteoporosis and fracture risk." Bone126 (2019): 2-10.
• Rivadeneira, Fernando, and André G. Uitterlinden. "Osteoporosis genes identified by genome-wide association studies." Genetics of Bone Biology and Skeletal Disease. Academic Press, 2018. 377-395.
• Qiu, Chuan, et al. "Integrative genomic analysis predicts novel functional enhancer-SNPs for bone mineral density." Human genetics2 (2019): 167-185.
• Wang, Fei, et al. "Gallstone disease and type 2 diabetes risk: a Mendelian randomization study." Hepatology2 (2019): 610-620.
• Ferreras, Laura, et al. "Heparan sulfate in chronic kidney diseases: exploring the role of 3-O-sulfation." Biochimica et Biophysica Acta (BBA)-General Subjects5 (2019): 839-848.
• Huang, Chukai, et al. "Detection of mutations in MYOC, OPTN, NTF4, WDR36 and CYP1B1 in Chinese juvenile onset open-angle glaucoma using exome sequencing." Scientific reports1 (2018): 1-8.
• Hayashi, Takaaki, et al. "Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy." Documenta Ophthalmologica2 (2020): 147-157.
• Dai, Yaoyao, et al. "Genetic polymorphisms of IL17A, TLR4 and P2RX7 and associations with the risk of chronic obstructive pulmonary disease." Mutation Research/Genetic Toxicology and Environmental Mutagenesis829 (2018): 1-5.
• Li, Zhongqi, et al. "Functional variations of the TLR4 gene in association with chronic obstructive pulmonary disease and pulmonary tuberculosis." BMC pulmonary medicine1 (2019): 1-8.
• Moorehead, Amy, et al. "A thymic stromal lymphopoietin polymorphism may provide protection from asthma by altering gene expression." Clinical & Experimental Allergy4 (2020): 471-478.
• Lee, Brian, Xiaohui Yao, and Li Shen. "Genome-Wide association study of quantitative biomarkers identifies a novel locus for alzheimer’s disease at 12p12. 1." BMC Genomics1 (2022): 1-13.
• Hooshmandi, Mehdi, Calvin Wong, and Arkady Khoutorsky. "Dysregulation of translational control signaling in autism spectrum disorders." Cellular Signalling75 (2020): 109746.
• Conceição, Isabel, et al. "Early diagnosis of ATTR amyloidosis through targeted follow-up of identified carriers of TTR gene mutations." Amyloid1 (2019): 3-9.
• Frazier, Thomas W. "Autism spectrum disorder associated with germline heterozygous PTEN mutations." Cold Spring Harbor perspectives in medicine10 (2019): a037002.
• Gao, Yujing, et al. "Genetic analysis of RAB39B in an early-onset Parkinson's disease Cohort." Frontiers in Neurology11 (2020): 523.
• Zhang, Yunqiao, et al. "Peripheral blood leukocyte RNA-Seq identifies a set of genes related to abnormal psychomotor behavior characteristics in patients with schizophrenia." Medical science monitor: international medical journal of experimental and clinical research26 (2020): e922426-1.
• Campbell, Mary Beth, et al. "Bloom syndrome: research and data priorities for the development of precision medicine as identified by some affected families." Molecular Case Studies2 (2018): a002816.
• Farrell, Philip M., Michael J. Rock, and Mei W. Baker. "The impact of the CFTR gene discovery on cystic fibrosis diagnosis, counseling, and preventive therapy." Genes4 (2020): 401.
• Martins, Raisa da Silva, et al. "Identification of a novel large deletion and other copy number variations in the CFTR gene in patients with Cystic Fibrosis from a multiethnic population." Molecular Genetics & Genomic Medicine7 (2019): e00645.
• Cadieux-Dion, Maxime, et al. "Variants in CHRNB2 and CHRNA4 identified in patients with insular epilepsy." Canadian Journal of Neurological Sciences6 (2020): 800-809.
• Zhu, Weifeng, Yan Deng, and Xiaodong Zhou. "Multiple membrane transporters and some immune regulatory genes are major genetic factors to gout." The Open Rheumatology Journal12 (2018): 94.
• Kawabata, Hiroshi. "The mechanisms of systemic iron homeostasis and etiology, diagnosis, and treatment of hereditary hemochromatosis." International journal of hematology1 (2018): 31-43.
• Amr, Khalda, et al. "Whole exome sequencing identifies a new mutation in the SLC19A2 gene leading to thiamine‐responsive megaloblastic anemia in an Egyptian family." Molecular Genetics & Genomic Medicine7 (2019): e00777.
• Cai, Liuhong, et al. "A universal approach to correct various HBB gene mutations in human stem cells for gene therapy of beta-thalassemia and sickle cell disease." Stem cells translational medicine1 (2018): 87-97.
• Iijima, Hiroyuki, et al. "Analysis of GBE1 mutations via protein expression studies in glycogen storage disease type IV: a report on a non-progressive form with a literature review." Molecular genetics and metabolism reports17 (2018): 31-37.
• Beyzaei, Zahra, et al. "Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing." Scientific reports1 (2021): 1-9.
• Zhao, Sen, et al. "Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS)." Journal of medical genetics1 (2021): 41-47.
• Nociti, Viviana, et al. "BDNF rs6265 polymorphism methylation in Multiple Sclerosis: A possible marker of disease progression." PloS one10 (2018): e0206140.
• Wawrzyniak, Marcin, and Michael Scharl. "Genetics and epigenetics of inflammatory bowel disease." Swiss medical weekly148 (2018): w14671.
• Kadiyska, Tanya, et al. "Role of TNFSF15 in the intestinal inflammatory response." World Journal of Gastrointestinal Pathophysiology4 (2018): 73.
• Li, Meng, et al. "ZMIZ1 promotes the proliferation and migration of melanocytes in vitiligo." Experimental and Therapeutic Medicine2 (2020): 1371-1378.
• Moravvej, Hamideh, et al. "Genetic variant association of PTPN22, CTLA4, IL2RA, as well as HLA frequencies in susceptibility to alopecia areata." Immunological Investigations7 (2018): 666-679.
• de Jorge Martínez, Clara, et al. "Genetics of anorexia nervosa: an overview of genome-wide association studies and emerging biological links." Journal of Genetics and Genomics(2021).

• Aghabozorgi, Amirsaeed Sabeti, et al. "Role of adenomatous polyposis coli (APC) gene mutations in the pathogenesis of colorectal cancer; current status and perspectives." Biochimie 157 (2019): 64-71.
• Galata, Zoi, et al. "Amelioration of desmin network defects by αB-crystallin overexpression confers cardioprotection in a mouse model of dilated cardiomyopathy caused by LMNA gene mutation." Journal of Molecular and Cellular Cardiology 125 (2018): 73-86.
• Chen, Suet Nee, et al. "DNA damage response/TP53 pathway is activated and contributes to the pathogenesis of dilated cardiomyopathy associated with LMNA (Lamin A/C) mutations." Circulation research 124.6 (2019): 856-873.
• Feghaly, Julien, et al. "Genetics of atrial fibrillation." Journal of the American Heart Association 7.20 (2018): e009884.
• Hawsawi, Yousef M., et al. "The role of BRCA1/2 in hereditary and familial breast and ovarian cancers." Molecular genetics & genomic medicine 7.9 (2019): e879.
• Santana dos Santos, Elizabeth, et al. "non-coding variants in BRCA1 and BRCA2 genes: potential impact on breast and ovarian cancer predisposition." Cancers 10.11 (2018): 453.
• Roberts, Maegan E., et al. "MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer." Genetics in Medicine 20.10 (2018): 1167-1174.
• Monasky, Michelle M., et al. "Brugada syndrome: oligogenic or mendelian disease?." International Journal of Molecular Sciences 21.5 (2020): 1687.
• Singh, Mohita, Daniel P. Morin, and Mark S. Link. "Sudden cardiac death in Long QT syndrome (LQTS), Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia (CPVT)." Progress in cardiovascular diseases 62.3 (2019): 227-234.
• Frank, Derk, et al. "Cardiac α-actin (ACTC1) gene mutation causes atrial-septal defects associated with late-onset dilated cardiomyopathy." Circulation: Genomic and Precision Medicine 12.8 (2019): e002491.
• Foo, Claribel Tian Yu, et al. "Variant landscape of the RYR1 gene based on whole genome sequencing of the Singaporean population." Scientific Reports 12.1 (2022): 1-9.
• Babaei, Kosar, et al. "Epigenetic profiling of MUTYH, KLF6, WNT1 and KLF4 genes in carcinogenesis and tumorigenesis of colorectal cancer." BioMedicine 9.4 (2019).
• Brailovski, Eugene, et al. "Previously unreported WRAP53 gene variants in a patient with dyskeratosis congenita." Annals of Hematology 101.4 (2022): 907-909.
• Kuivaniemi, Helena, and Gerard Tromp. "Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases." Gene 707 (2019): 151-171.
• Hori, Mika, et al. "The first Japanese cases of familial hypercholesterolemia due to a known pathogenic APOB gene variant, c. 10580 G> A: p.(Arg3527Gln)." Journal of Clinical Lipidology 14.4 (2020): 482-486.
• Niraj, Joshi, Anniina Färkkilä, and Alan D. D'Andrea. "The Fanconi anemia pathway in cancer." Annual review of cancer biology 3 (2019): 457-478.
• Jiang, Qian, et al. "RET somatic mutations are underrecognized in Hirschsprung disease." Genetics in Medicine 20.7 (2018): 770-777.
• Camors, Emmanuel M., et al. "Early lethality due to a novel desmoplakin variant causing infantile epidermolysis bullosa simplex with fragile skin, aplasia cutis congenita, and arrhythmogenic cardiomyopathy." Circulation: Genomic and Precision Medicine 13.4 (2020): e002800.
• Amadou, Amina, Maria I. Waddington Achatz, and Pierre Hainaut. "Revisiting tumor patterns and penetrance in germline TP53 mutation carriers: temporal phases of Li–Fraumeni syndrome." Current opinion in oncology 30.1 (2018): 23-29.
• Coll, Monica, et al. "Role of genetic and electrolyte abnormalities in prolonged QTc interval and sudden cardiac death in end-stage renal disease patients." PloS one7 (2018): e0200756.
• Tamura, Kazuo, et al. "Genetic and genomic basis of the mismatch repair system involved in Lynch syndrome." International journal of clinical oncology9 (2019): 999-1011.
• Miller, D. M., et al. "Genetic epidemiology of malignant hyperthermia in the UK." British journal of anaesthesia4 (2018): 944-952.
• Alkhunaizi, Ebba, et al. "Homozygous/compound heterozygote RYR1 gene variants: expanding the clinical spectrum." American Journal of Medical Genetics Part A3 (2019): 386-396.
• Kamilaris, Crystal DC, and Constantine A. Stratakis. "Multiple endocrine neoplasia type 1 (MEN1): an update and the significance of early genetic and clinical diagnosis." Frontiers in endocrinology10 (2019): 339.
• Moog, Sophie, Charlotte Lussey-Lepoutre, and Judith Favier. "Epigenetic and metabolic reprogramming of SDH-deficient paragangliomas." Endocrine-Related Cancer12 (2020): R451-R463.
• Buffet, Alexandre, et al. "An overview of 20 years of genetic studies in pheochromocytoma and paraganglioma." Best practice & research Clinical endocrinology & metabolism2 (2020): 101416.
• Guo, Zhuoyao, et al. "Clinical and genetic analysis of patients with primary ciliary dyskinesia caused by novel DNAAF3 mutations." Journal of human genetics8 (2019): 711-719.
• Faridi, Rabia, et al. "Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange‐Nielsen syndrome and Romano‐Ward syndrome." Human mutation2 (2019): 162-176.
• Favre, Bertrand, N. Begre, and Luca Borradori. "A recessive mutation in the DSP gene linked to cardiomyopathy, skin fragility and hair defects impairs the binding of desmoplakin to epidermal keratins and the muscle-specific intermediate filament desmin." The British journal of dermatology3 (2018): 797-799.
• Tirosh, Amit, et al. "In silico VHL gene mutation analysis and prognosis of pancreatic neuroendocrine tumors in von Hippel–Lindau disease." The Journal of Clinical Endocrinology & Metabolism4 (2018): 1631-1638.

• Pistiner, Michael, et al. "Polymorphisms in IL12A and cockroach allergy in children with asthma." Clinical and Molecular Allergy1 (2008): 1-7.
• Gao, Peisong. "Sensitization to cockroach allergen: immune regulation and genetic determinants." Clinical and Developmental Immunology2012 (2012).
• Dittmar, Daan, and Marie L. Schuttelaar. "Immunology and genetics of tumour necrosis factor in allergic contact dermatitis." Contact Dermatitis5 (2017): 257-271.
• Gardner, Leanne M., Robyn E. O’Hehir, and Jennifer M. Rolland. "High dose allergen stimulation of T cells from house dust mite-allergic subjects induces expansion of IFN-γ+ T cells, apoptosis of CD4+ IL-4+ T cells and T cell anergy." International archives of allergy and immunology1 (2004): 1-13.
• Farzan, Niloufar, et al. "The use of pharmacogenomics, epigenomics, and transcriptomics to improve childhood asthma management: Where do we stand?." Pediatric pulmonology6 (2018): 836-845.
• Ketelaar, Marlies. Functional and clinical translation of asthma and allergy associated genetic variants in IL33 and IL1RL1. Diss. University of Groningen, 2021.
• Suaini, Noor HA, et al. "Genetic determinants of paediatric food allergy: a systematic review." Allergy9 (2019): 1631-1648.
• Eldein, Mahmoud Nour, et al. "Exome Sequencing Studies for Kids with Non-Familial Food Allergy." (2018).
• Gao, Yunbo, et al. "Replication study of susceptibility variants associated with allergic rhinitis and allergy in Han Chinese." Allergy, Asthma & Clinical Immunology1 (2020): 1-9.
• Choi, Bo Yoon, et al. "Genetics and Epigenetics in Allergic Rhinitis." Genes12 (2021): 2004.
• Li, Youjin, et al. "GWAS-identified variants to allergic disease and early environmental exposure in Chinese schoolchildren with allergic rhinitis induced by house dust mite." Asian Pacific Journal of Allergy and Immunology1 (2022): 55-64.
• Kim, Kyung Won, and Carole Ober. "Lessons learned from GWAS of asthma." Allergy, Asthma & Immunology Research2 (2019): 170-187.
• Kerperien, JoAnn, et al. "IL-10 receptor or TGF-β neutralization abrogates the protective effect of a specific nondigestible oligosaccharide mixture in cow-milk-allergic mice." The Journal of nutrition8 (2018): 1372-1379.
• Hromatka, Bethann S., et al. "Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis." Human molecular genetics9 (2015): 2700-2708.
• Eriksson, Nicholas, et al. "Web-based, participant-driven studies yield novel genetic associations for common traits." PLoS genetics6 (2010): e1000993.
• Madore, Anne-Marie, et al. "HLA-DQB1* 02 and DQB1* 06: 03P are associated with peanut allergy." European Journal of Human Genetics10 (2013): 1181-1184.
• Savenije, Olga E., et al. "Association of IL33–IL-1 receptor–like 1 (IL1RL1) pathway polymorphisms with wheezing phenotypes and asthma in childhood." Journal of Allergy and Clinical Immunology1 (2014): 170-177.
• Pechlivanis, Sonali, and Erika von Mutius. "Effect of Farming on Asthma." Acta Medica Academica2 (2020).
• Noguchi, Emiko, et al. "Genome-wide association study identifies HLA-DP as a susceptibility gene for pediatric asthma in Asian populations." PLoS genetics7 (2011): e1002170.

• Benyamin, Beben, et al. "Childhood intelligence is heritable, highly polygenic and associated with FNBP1L." Molecular psychiatry 19.2 (2014): 253-258.
• Chen, Huan, et al. "A genome-wide association study identifies genetic variants associated with mathematics ability." Scientific reports1 (2017): 1-9.
• Park, Hansoo, et al. "Comprehensive genomic analyses associate UGT8 variants with musical ability in a Mongolian population." Journal of medical genetics 49.12 (2012): 747-752.
• Zhang, Shun, Muzi Zhang, and Jinghuan Zhang. "Association of COMT and COMT-DRD2 interaction with creative potential." Frontiers in Human Neuroscience 8 (2014): 216.
• Arpawong, Thalida E., et al. "Genetic variants specific to aging-related verbal memory: Insights from GWASs in a population-based cohort." PloS one 12.8 (2017): e0182448.
• Gong, Pingyuan, et al. "An association study on the polymorphisms of dopaminergic genes with working memory in a healthy Chinese Han population." Cellular and molecular neurobiology 32.6 (2012): 1011-1019.
• Markant, Julie, et al. "Relating dopaminergic and cholinergic polymorphisms to spatial attention in infancy." Developmental psychology 50.2 (2014): 360.
• Lee, James J., et al. "Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals." Nature genetics8 (2018): 1112-1121
• Okbay, Aysu, et al. "Genome-wide association study identifies 74 loci associated with educational attainment." Nature 533.7604 (2016): 539-542.
• Colzato, Lorenza S., et al. "The flexible mind is associated with the catechol-O-methyltransferase (COMT) Val158Met polymorphism: evidence for a role of dopamine in the control of task-switching." Neuropsychologia 48.9 (2010): 2764-2768.
• Jawinski, Philippe, et al. "Human brain arousal in the resting state: a genome-wide association study." Molecular psychiatry 24.11 (2019): 1599-1609.
• Davies, Gail, et al. "Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function." Nature communications 9.1 (2018): 1-16.
• Davies, Gail, et al. "Genome-wide association study of cognitive functions and educational attainment in UK Biobank (N= 112 151)." Molecular psychiatry 21.6 (2016): 758-767.
• Luciano, Michelle, et al. "A genome‐wide association study for reading and language abilities in two population cohorts." Genes, Brain and Behavior 12.6 (2013): 645-652.
• Wolber, Lisa E., et al. "Salt-inducible kinase 3, SIK3, is a new gene associated with hearing." Human molecular genetics 23.23 (2014): 6407-6418.
• Doi, Hirokazu, Shota Nishitani, and Kazuyuki Shinohara. "Association between catechol-O-methyltransferase Val158Met polymorphism and configural mode of face processing." Neuroscience Letters 586 (2015): 19-23.
• Doi, Hirokazu, Shota Nishitani, and Kazuyuki Shinohara. "Association between catechol-O-methyltransferase Val158Met polymorphism and configural mode of face processing." Neuroscience Letters 586 (2015): 19-23.
• Ning, Kaida, et al. "Improving brain age estimates with deep learning leads to identification of novel genetic factors associated with brain aging." Neurobiology of Aging 105 (2021): 199-204.

• Yadav, Mange Ram, and Prashant R. Murumkar. "Advances in patented CB1 receptor antagonists for obesity." Pharmaceutical Patent Analyst5 (2018): 169-173.
• Frayling, Timothy M et al. “A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity.” Science (New York, N.Y.) 316,5826 (2007): 889-94. doi:10.1126/science.1141634
• Palmeira, Lara, et al. "Association study of variants in genes FTO, SLC6A4, DRD2, BDNF and GHRL with binge eating disorder (BED) in Portuguese women." Psychiatry Research 273 (2019): 309-311.

• Pasman, Joëlle A., et al. "GWAS of lifetime cannabis use reveals new risk loci, genetic overlap with psychiatric traits, and a causal effect of schizophrenia liability." Nature neuroscience 21.9 (2018): 1161-1170.

• Davis, Caroline, et al. "Binge eating disorder and the dopamine D2 receptor: genotypes and sub-phenotypes." Progress in Neuro-Psychopharmacology and Biological Psychiatry2 (2012): 328-335.
• Stutzmann, F., et al. "Common genetic variation near MC4R is associated with eating behaviour patterns in European populations." International journal of obesity3 (2009): 373-378.
• Martins, Maisa C., et al. "Associations between obesity candidate gene polymorphisms (fat mass and obesity-associated (FTO), melanocortin-4 receptor (MC4R), leptin (LEP) and leptin receptor (LEPR)) and dietary intake in pregnant women." British Journal of Nutrition4 (2018): 454-463.
• Awofala, Awoyemi Abayomi, Olusegun Emmanuel Ogundele, and Khalid Olajide Adekoya. "ADIPOQ gene is linked to emotional eating behaviour in young Nigerian adults independent of psychological traits." Bulletin of the National Research Centre1 (2020): 1-7.
• Rabiee, Negar, et al. "Evaluation of the correlation between serum lipid characteristics of obese subjects and ADIPOQ gene rs266729 polymorphism in Chaharmahal and Bakhtiari Province of Iran." Journal of Current Biomedical Reports2 (2020): 66-72.
• Hao, Jian-Wei, et al. "CD36 facilitates fatty acid uptake by dynamic palmitoylation-regulated endocytosis." Nature communications1 (2020): 1-16.
• von Holstein‐Rathlou, Stephanie, and Matthew P. Gillum. "Fibroblast growth factor 21: an endocrine inhibitor of sugar and alcohol appetite." The Journal of physiology14 (2019): 3539-3548.
• Christensen, Karl Bang. "FGF21 Is a Sugar-Induced Hormone Associated with Sweet Intake and Preference in Humans."
• Smail, Harem Othman. "The roles of genes in the bitter taste." AIMS genetics04 (2019): 088-097.
• Boxer, Emma E., and Nicole L. Garneau. "Rare haplotypes of the gene TAS2R38 confer bitter taste sensitivity in humans." SpringerPlus1 (2015): 1-4.
• Thonusin, Chanisa, et al. "The impact of genetic polymorphisms on weight regain after successful weight loss." British Journal of Nutrition8 (2020): 809-823.
• Chmurzynska, Agata, et al. "PPARG and FTO polymorphism can modulate the outcomes of a central European diet and a Mediterranean diet in centrally obese postmenopausal women." Nutrition Research 69 (2019): 94-100.
• Javanrouh Givi, Niloufar, et al. "The joint effect of PPARG upstream genetic variation in association with long-term persistent obesity: Tehran cardio-metabolic genetic study (TCGS)." Eating and Weight Disorders-Studies on Anorexia, Bulimia and Obesity7 (2021): 2325-2332.
• Lupi-Herrera, Eulo, et al. "Polymorphisms C677T and A1298C of MTHFR gene: Homocysteine levels and prothrombotic biomarkers in coronary and pulmonary thromboembolic disease." Clinical and Applied Thrombosis/Hemostasis 25 (2019): 1076029618780344.
• Di Renzo, Laura, et al. "Influence of FTO rs9939609 and Mediterranean diet on body composition and weight loss: a randomized clinical trial." Journal of Translational Medicine1 (2018): 1-12
• Ha, Elizabeth, et al. "Adipocyte-Specific Tribbles1 Regulates Adiponectin Secretion and Plasma Lipids." Arteriosclerosis, Thrombosis, and Vascular BiologySuppl_1 (2019): A155-A155.
• de Luis, Daniel Antonio, et al. "Association of the rs10830963 polymorphism in melatonin receptor type 1B (MTNR1B) with metabolic response after weight loss secondary to a hypocaloric diet based in Mediterranean style." Clinical Nutrition5 (2018): 1563-1568.
• Qi, Lu. "Gene–diet interaction and weight loss." Current opinion in lipidology1 (2014): 27.
• Martinez, J. Alfredo, et al. "Personalized weight loss strategies—the role of macronutrient distribution." Nature Reviews Endocrinology12 (2014): 749-760.
• Bauer, Witold, et al. "Dietary macronutrient intake may influence the effects of TCF7L2 rs7901695 genetic variants on glucose homeostasis and obesity-related parameters: A cross-sectional population-based study." Nutrients6 (2021): 1936.
• Lai, Chao-Qiang, et al. "Epigenomics and metabolomics reveal the mechanism of the APOA2-saturated fat intake interaction affecting obesity." The American journal of clinical nutrition1 (2018): 188-200.
• Chmurzynska, Agata, et al. "PPARG and FTO polymorphism can modulate the outcomes of a central European diet and a Mediterranean diet in centrally obese postmenopausal women." Nutrition Research 69 (2019): 94-100.
• Blaner, William S., et al. "Vitamin A absorption, storage and mobilization." The Biochemistry of Retinoid Signaling II (2016): 95-125.
• Surendran, S., et al. "An update on vitamin B12-related gene polymorphisms and B12 status." Genes & nutrition1 (2018): 1-35.
• Tanaka, Toshiko, et al. "Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations." The American Journal of Human Genetics4 (2009): 477-482.
• Olde Loohuis, Loes M., et al. "The alkaline phosphatase (ALPL) locus is associated with B6 vitamer levels in CSF and plasma." Genes1 (2018): 8.
• Kobylecki, Camilla J., Shoaib Afzal, and Børge G. Nordestgaard. "Genetically high plasma vitamin C and urate: A Mendelian randomization study in 106 147 individuals from the general population." Rheumatology10 (2018): 1769-1776.
• Tomei, Sara, et al. "The role of polymorphisms in vitamin D-related genes in response to vitamin D supplementation." Nutrients9 (2020): 2608.
• Revez, Joana A., et al. "Genome-wide association study identifies 143 loci associated with 25 hydroxyvitamin D concentration." Nature communications1 (2020): 1-12.
• Major, Jacqueline M., et al. "Genome-wide association study identifies common variants associated with circulating vitamin E levels." Human molecular genetics19 (2011): 3876-3883.
• Garcia, Andrea A., and Pieter H. Reitsma. "VKORC1 and the vitamin K cycle." Vitamins & Hormones 78 (2008): 23-33.
• O'Seaghdha, Conall M., et al. "Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations." PLoS genetics9 (2013): e1003796.
• Baeza-Richer, Carlos, et al. "Genetic contribution to iron status: SNPs related to iron deficiency anaemia and fine mapping of CACNA2D3 calcium channel subunit." Blood Cells, Molecules, and Diseases4 (2015): 273-280
• Luongo, Francesca, et al. "TRPM6 is essential for magnesium uptake and epithelial cell function in the colon." Nutrients6 (2018): 784.
• Kapur, Karen, et al. "Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) gene." PLoS genetics7 (2010): e1001035.
• Fujihara, Junko, et al. "Association of SNPs in genes encoding zinc transporters on blood zinc levels in humans." Legal Medicine 30 (2018): 28-33
• Batai, Ken, et al. "Genome-wide association study of response to selenium supplementation and circulating selenium concentrations in adults of European descent." The Journal of nutrition2 (2021): 293-302.
• Ighodaro, O. M., and O. A. Akinloye. "First line defence antioxidants-superoxide dismutase (SOD), catalase (CAT) and glutathione peroxidase (GPX): Their fundamental role in the entire antioxidant defence grid." Alexandria journal of medicine4 (2018): 287-293.
• D’Adamo, Christopher R., et al. "A common variant in the SETD7 gene predicts serum lycopene concentrations." Nutrients2 (2016): 82.
• Ross, David, and David Siegel. "Functions of NQO1 in cellular protection and CoQ10 metabolism and its potential role as a redox sensitive molecular switch." Frontiers in physiology 8 (2017): 595.
• Haas, Andrea V., et al. "Genetic Predictors of Salt Sensitivity of Blood Pressure: The Additive Impact of 2 Hits in the Same Biological Pathway." Hypertension6 (2021): 1809-1817.
• Zhang, Huan, et al. "Associations among NPPA gene polymorphisms, serum ANP levels, and hypertension in the Chinese Han population." Journal of Human Hypertension9 (2019): 641-647.
• Rooney, Martina, et al. "Impact of the MTHFR C677T polymorphism on one-carbon metabolites: Evidence from a randomised trial of riboflavin supplementation." Biochimie 173 (2020): 91-99.
• Macgregor, Stuart, et al. "Associations of ADH and ALDH2 gene variation with self report alcohol reactions, consumption and dependence: an integrated analysis." Human molecular genetics3 (2009): 580-593.
• Santos, Roseane M. "Preliminary studies on genetic profiling of coffee and caffeine consumption." Beverages3 (2019): 41.
• Cornelis, Marilyn C., et al. "Genome-wide association study of caffeine metabolites provides new insights to caffeine metabolism and dietary caffeine-consumption behavior." Human molecular genetics24 (2016): 5472-5482.
• Koonrungsesomboon, Nut, et al. "The impact of genetic polymorphisms on CYP1A2 activity in humans: a systematic review and meta-analysis." The pharmacogenomics journal6 (2018): 760-768.
• Guest, Nanci, et al. "Caffeine, CYP1A2 genotype, and endurance performance in athletes." Medicine & Science in Sports & Exercise8 (2018): 1570-1578.
• Serena, Gloria, Rosiane Lima, and Alessio Fasano. "Genetic and environmental contributors for celiac disease." Current Allergy and Asthma Reports9 (2019): 1-10.
• Qibtia, Maria, et al. "Polymorphism in MCM6-Gene Associated with Lactose Non-Persistence in Pakistani Patients." (2021).
• Lopez-Leon, Sandra, et al. "Molecular genetics of substance use disorders: An umbrella review." Neuroscience & Biobehavioral Reviews 124 (2021): 358-369.
• Lehrer, S., and P. H. Rheinstein. "Diabetes, cigarette smoking and transcription factor 7-like 2 (Tcf7L2) in the UK Biobank cohort." Bulletin de l'Académie Nationale de Médecine9 (2021): 1146-1150.

• Ahmetov, Ildus I., et al. "Genome-wide association study identifies three novel genetic markers associated with elite endurance performance." Biology of Sport1 (2015): 3.
• Ahmetov, Ildus I., et al. "Genes and athletic performance: an update." Genetics and sports 61 (2016): 41-54.
• Al-Khelaifi, Fatima, et al. "Genome-wide association study reveals a novel association between MYBPC3 gene polymorphism, endurance athlete status, aerobic capacity and steroid metabolism." Frontiers in genetics 11 (2020): 595.
• Qi, Wei, Fan Jia-cheng, and Du Ya-wen. "Correlation of four gene polymorphic loci with athlete endurance phenotype." Chinese Journal of Tissue Engineering Research16 (2018): 2508.
• Ahmetov, I. I., et al. "Effect of HIF1A gene polymorphism on human muscle performance." Bulletin of experimental biology and medicine3 (2008): 351-353.
• Crossland, Hannah, et al. "Targeted genotype analyses of GWAS-derived lean body mass and handgrip strength-associated single-nucleotide polymorphisms in elite master athletes." American Journal of Physiology-Regulatory, Integrative and Comparative Physiology2 (2020): R184-R194.
• Massidda, Myosotis, et al. "Genetics of flexibility." Sports, Exercise, and Nutritional Genomics. Academic Press, 2019. 273-293
• Lee, Harold H., et al. "The Moderating Effects of Genetic Variations on Changes in Physical Activity Level and Cardiorespiratory Fitness in Response to a Life-Style Intervention: A Randomized Controlled Trial." Psychosomatic medicine5 (2021): 440-448.
• Zhang, Xueying, and John R. Speakman. "Genetic factors associated with human physical activity: are your genes too tight to prevent you exercising?." Endocrinology4 (2019): 840-852.
• Clos, Enric, et al. "ACTN3 single nucleotide polymorphism is associated with non-contact musculoskeletal soft-tissue injury incidence in elite professional football players." Knee Surgery, Sports Traumatology, Arthroscopy12 (2019): 4055-4061.
• Van de Vegte, Yordi J., et al. "Genetics and the heart rate response to exercise." Cellular and molecular life sciences12 (2019): 2391-2409.
• Blanc, Roméo S., et al. "Inhibition of inflammatory CCR2 signaling promotes aged muscle regeneration and strength recovery after injury." Nature communications1 (2020): 1-12
• Kim, Sangkyu, et al. "Single nucleotide polymorphisms linked to mitochondrial uncoupling protein genes UCP2 and UCP3 affect mitochondrial metabolism and healthy aging in female nonagenarians." Biogerontology4 (2016): 725-736.
• Zillikens, M. Carola, et al. "Large meta-analysis of genome-wide association studies identifies five loci for lean body mass." Nature communications1 (2017): 1-13.
• Yoshida, Tadashi, and Patrice Delafontaine. "Mechanisms of IGF-1-mediated regulation of skeletal muscle hypertrophy and atrophy." Cells9 (2020): 1970.
• Ginevičienė, Valentina, et al. "Variants in the Myostatin Gene and Physical Performance Phenotype of Elite Athletes." Genes5 (2021): 757.
• Andersen, Sonja, and Frank Skorpen. "Variation in the COMT gene: implications for pain perception and pain treatment." (2009): 669-684.
• El Khoury, Louis, William J. Ribbans, and Stuart M. Raleigh. "MMP3 and TIMP2 gene variants as predisposing factors for Achilles tendon pathologies: Attempted replication study in a British case–control cohort." Meta gene 9 (2016): 52-55.
• Nie, Guanghua, et al. "Additional evidence supports association of common genetic variants in MMP3 and TIMP2 with increased risk of chronic Achilles tendinopathy susceptibility." Journal of Science and Medicine in Sport10 (2019): 1074-1078.
• McCabe, Kiah, and Christopher Collins. "Can genetics predict sports injury? The association of the genes GDF5, AMPD1, COL5A1 and IGF2 on soccer player injury occurrence." Sports1 (2018): 21.
• Hartwig, Fernando Pires, et al. "SLC16A1 SNPs and leisure-time physical activity in young Brazilian adults." (2020).
• Cupeiro, Rocío, et al. "Influence of the MCT1-T1470A polymorphism (rs1049434) on blood lactate accumulation during different circuit weight trainings in men and women." Journal of science and medicine in sport6 (2012): 541-547.
• Baumert, Philipp, et al. "TRIM63 (MuRF-1) gene polymorphism is associated with biomarkers of exercise-induced muscle damage." Physiological genomics3 (2018): 142-143.
• Buckert, Magdalena, et al. "The COMT Val158Met polymorphism modulates working memory performance under acute stress." Psychoneuroendocrinology11 (2012): 1810-1821.
• Xiang, Lingwei, et al. "FTO genotype and weight loss in diet and lifestyle interventions: a systematic review and meta-analysis." The American journal of clinical nutrition4 (2016): 1162-1170.
• Teran-Garcia, Margarita, et al. "Hepatic lipase gene variant− 514C> T is associated with lipoprotein and insulin sensitivity response to regular exercise: the HERITAGE Family Study." Diabetes7 (2005): 2251-2255.
• Yang, Tzi-Peng, et al. "The minor C-allele of the rs2014355 variant in ACADS gene is associated with exercise-induced increase in HDL cholesterol levels in Taiwanese adults." Medicine1 (2021).
• Sena, Klecia, et al. "Influence of Ethnicity and Gene Polymorphism T-786C eNOS on Post-Exercise Hypotension in Hypertensive Adults." Journal of Exercise Physiology Online2 (2020).
• Ruchat, S-M., et al. "Improvements in glucose homeostasis in response to regular exercise are influenced by the PPARG Pro12Ala variant: results from the HERITAGE Family Study." Diabetologia4 (2010): 679-689.
• Sarzynski, Mark A., et al. "Genomic and transcriptomic predictors of triglyceride response to regular exercise." British journal of sports medicine23 (2015): 1524-1531.

• Adams, Jeremy N et al. “Genetic analysis of advanced glycation end products in the DHS MIND study.” Gene 584,2 (2016): 173-9. doi:10.1016/j.gene.2016.02.029
• Osmola-Mańkowska, Agnieszka, et al. "Genetic polymorphism in psoriasis and its meaning for the treatment efficacy in the future." Advances in Dermatology and Allergology/Postȩpy Dermatologii i Alergologii4 (2018): 331.
• Zaorska, Katarzyna, Piotr Zawierucha, and Michał Nowicki. "Prediction of skin color, tanning and freckling from DNA in Polish population: linear regression, random forest and neural network approaches." Human genetics6 (2019): 635-647.
• Jacobs, Leonie C., et al. "IRF4, MC1R and TYR genes are risk factors for actinic keratosis independent of skin color." Human Molecular Genetics11 (2015): 3296-3303.
• Nan, Hongmei, et al. "Genome-wide association study of tanning phenotype in a population of European ancestry." Journal of Investigative Dermatology9 (2009): 2250-2257.
• Chen, Y., et al. "A genome‐wide association study identifies novel gene associations with facial skin wrinkling and mole count in Latin Americans." British Journal of Dermatology5 (2021): 988-998.
• Le Clerc, Sigrid, et al. "A genome-wide association study in Caucasian women points out a putative role of the STXBP5L gene in facial photoaging." Journal of Investigative Dermatology4 (2013): 929-935.
• Schuck, Desirée C., et al. "Unraveling the molecular and cellular mechanisms of stretch marks." Journal of cosmetic dermatology1 (2020): 190-198.
• Emanuele, E., M. Bertona, and D. Geroldi. "A multilocus candidate approach identifies ACE and HIF1A as susceptibility genes for cellulite." Journal of the European Academy of Dermatology and Venereology8 (2010): 930-935.
• Fallahpour, Masoumeh, Rohullah Abdullahpour, and Farkhondeh Nemati. "Association of C677T polymorphism in methylenetetrahydrofolate reductase (MTHFR) with varicose veins in Mazandaran population." Razi Journal of Medical Sciences7 (2018): 18-26.
• Wilmanns, Christoph, et al. "Morphology and progression in primary varicose vein disorder due to 677C> T and 1298A> C variants of MTHFR." EBioMedicine2 (2015): 158-164.
• Mitchell, Brittany L., et al. "Genome-wide association meta-analysis identifies 29 new acne susceptibility loci." Nature communications1 (2022): 1-9.
• Borel, Patrick, and Charles Desmarchelier. "Genetic variations associated with vitamin A status and vitamin A bioavailability." Nutrients3 (2017): 246.
• Hazra, Aditi, et al. "Common variants of FUT2 are associated with plasma vitamin B 12 levels." Nature genetics10 (2008): 1160-1162.
• Eck, Peter. "Nutrigenomics of vitamin C absorption and transport." Current Opinion in Food Science 20 (2018): 100-104
• Jones, Patrice, et al. "Distribution of variants in multiple vitamin D-related loci (DHCR7/NADSYN1, GC, CYP2R1, CYP11A1, CYP24A1, VDR, RXRα and RXRγ) vary between European, East-Asian and Sub-Saharan African-ancestry populations." Genes & Nutrition1 (2020): 1-11.
• Takeuchi, Masanobu, et al. "CYP2C9, VKORC1, and CYP4F2 polymorphisms and pediatric warfarin maintenance dose: a systematic review and meta-analysis." The Pharmacogenomics Journal2 (2020): 306-319.

• Elkhazraji, Abdelhak, et al. "Effect of CYP2C9, VKORC1, CYP4F2, and GGCX gene variants and patient characteristics on acenocoumarol maintenance dose: Proposal for a dosing algorithm for Moroccan patients." Drug Discoveries & Therapeutics2 (2018): 68-76.
• Al-Eitan, Laith N., Ayah Y. Almasri, and Rame H. Khasawneh. "Effects of CYP2C9 and VKORC1 polymorphisms on warfarin sensitivity and responsiveness during the stabilization phase of therapy." Saudi Pharmaceutical Journal4 (2019): 484-490.
• Crews, Kristine R., et al. "Clinical pharmacogenetics implementation consortium guideline for CYP2D6, OPRM1, and COMT genotypes and select opioid therapy." Clinical Pharmacology & Therapeutics4 (2021): 888-896.
• Matthaei, Johannes, et al. "Effects of Genetic Polymorphism in CYP2D6, CYP2C19, and the Organic Cation Transporter OCT1 on Amitriptyline Pharmacokinetics in Healthy Volunteers and Depressive Disorder Patients." Frontiers in pharmacology 12 (2021): 1219.
• Risselada, Arne J., et al. "Association between HTR2C gene polymorphisms and the metabolic syndrome in patients using antipsychotics: a replication study." The Pharmacogenomics Journal1 (2012): 62-67.
• Puangpetch, Apichaya, et al. "Association between polymorphisms of LEP, LEPR, DRD2, HTR2A and HTR2C genes and risperidone-or clozapine-induced hyperglycemia." Pharmacogenomics and Personalized Medicine 12 (2019): 155.
• Zhang, Xiaodan, et al. "Association between aripiprazole pharmacokinetics and CYP2D6 phenotypes: A systematic review and meta‐analysis." Journal of Clinical Pharmacy and Therapeutics2 (2019): 163-173.
• Yang, Juesheng, et al. "Associations of candidate gene polymorphisms with poor responsiveness to aspirin: a meta-analysis." Clinical and Experimental Pharmacology & Physiology (2018).
• Poblete, Daniela, et al. "Pharmacogenetic Associations Between Atazanavir/UGT1A1* 28 and Efavirenz/rs3745274 (CYP2B6) Account for Specific Adverse Reactions in Chilean Patients Undergoing Antiretroviral Therapy." Frontiers in Pharmacology 12 (2021): 1133.
• Kim, Se-Hyung, et al. "Physiologically based pharmacokinetic modelling of atomoxetine with regard to CYP2D6 genotypes." Scientific Reports1 (2018): 1-9.
• Zhang, Limin, et al. "Association of SLCO1B1 and ABCB1 genetic variants with atorvastatin-induced myopathy in patients with acute ischemic stroke." Current Pharmaceutical Design14 (2019): 1663-1670.
• Dean, Laura. "Azathioprine therapy and TPMT and NUDT15 genotype." Medical Genetics Summaries [Internet] (2020).
• Tanaka, Yoichi, and Yoshiro Saito. "Importance of NUDT15 polymorphisms in thiopurine treatments." Journal of Personalized Medicine8 (2021): 778.
• Elmokadem, Ahmed, et al. "Brexpiprazole Pharmacokinetics in CYP2D6 Poor Metabolizers: Using Physiologically Based Pharmacokinetic Modeling to Optimize Time to Effective Concentrations." The Journal of Clinical Pharmacology1 (2022): 66-75.
• Tomaz, Paulo Roberto Xavier, et al. "CYP2B6 rs2279343 polymorphism is associated with smoking cessation success in bupropion therapy." European journal of clinical pharmacology9 (2015): 1067-1073.
• Grgic, Jozo, et al. "ADORA2A C allele carriers exhibit ergogenic responses to caffeine supplementation." Nutrients3 (2020): 741.
• Varma, Ashok, et al. "Influence of DPYD* 9A, DPYD* 6 and GSTP1 ile105val genetic polymorphisms on Capecitabine and Oxaliplatin (CAPOX) associated toxicities in colorectal Cancer (CRC) patients." Asian Pacific Journal of Cancer Prevention: APJCP10 (2019): 3093.
• Nahid, Noor Ahmed, et al. "DPYD* 2A and MTHFR C677T predict toxicity and efficacy, respectively, in patients on chemotherapy with 5-fluorouracil for colorectal cancer." Cancer chemotherapy and pharmacology1 (2018): 119-129.
• García-González, Xandra, et al. "Severe toxicity to capecitabine due to a new variant at a donor splicing site in the dihydropyrimidine dehydrogenase (DPYD) gene." Cancer Management and Research 10 (2018): 4517.
• Zhao, Gui-Xin, et al. "Association between EPHX1 polymorphisms and carbamazepine metabolism in epilepsy: a meta-analysis." International journal of clinical pharmacy6 (2019): 1414-1428.
• Tiseo, Marcello, et al. "Pharmacogenetic study of patients with advanced non-small cell lung cancer (NSCLC) treated with second-line pemetrexed or pemetrexed–carboplatin." Lung cancer1 (2012): 92-99.
• Kim, Se-Hyung, et al. "Effects of CYP2C9 genetic polymorphisms on the pharmacokinetics of celecoxib and its carboxylic acid metabolite." Archives of pharmacal research3 (2017): 382-390.
• Turongkaravee, Saowalak, et al. "A systematic review and meta-analysis of genotype-based and individualized data analysis of SLCO1B1 gene and statin-induced myopathy." The pharmacogenomics journal3 (2021): 296-307.
• Olivera, Gladys, et al. "Colorectal cancer: pharmacogenetics support for the correct drug prescription." Pharmacogenomics10 (2019): 741-763.
• Aldrich, Stacey L., et al. "Influence of CYP2C19 metabolizer status on escitalopram/citalopram tolerability and response in youth with anxiety and depressive disorders." Frontiers in Pharmacology (2019): 99.
• Lan, Tian, et al. "Effects of 31 recombinant CYP2C19 variants on clomipramine metabolism in vitro." Journal of Psychopharmacology12 (2021): 1517-1522.
• Carranza-Leon, Daniel, et al. "CYP2D6 genotype and reduced codeine analgesic effect in real-world clinical practice." The pharmacogenomics journal4 (2021): 484-490.
• Jabir, Ferdous A., and Wisam H. Hoidy. "Pharmacogenetics as personalized medicine: Association investigation of SOD2 rs4880, CYP2C19 rs4244285, and FCGR2A rs1801274 polymorphisms in a breast cancer population in Iraqi women." Clinical breast cancer5 (2018): e863-e868.
• Islam, Md, et al. "Effect of GSTP1 and ABCC4 gene polymorphisms on response and toxicity of cyclophosphamide-epirubicin-5-fluorouracil-based chemotherapy in Bangladeshi breast cancer patients." Tumor Biology7 (2015): 5451-5457.
• El-Shair, Sahar, et al. "Association Between CYP3A4 and CYP3A5 Genotypes and Cyclosporine's Blood Levels and Doses among Jordanian Kidney Transplanted Patients." Current Drug Metabolism8 (2019): 682-694.
• Niwa, Toshiro, et al. "Effect of cytochrome P450 (CYP) 2D6 genetic polymorphism on the inhibitory action of antidepressants on CYP2D6-mediated dopamine formation from p-tyramine." Journal of Pharmacy & Pharmaceutical Sciences 21 (2018): 135-142.
• Lima, John J., et al. "Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for CYP2C19 and proton pump inhibitor dosing." Clinical Pharmacology & Therapeutics6 (2021): 1417-1423.
• Svensson-Färbom, Patrik, et al. "A functional variant of the NEDD4L gene is associated with beneficial treatment response with β-blockers and diuretics in hypertensive patients." Journal of hypertension2 (2011): 388-395.
• Hicks, J. K., et al. "Clinical Pharmacogenetics Implementation Consortium guideline for CYP2D6 and CYP2C19 genotypes and dosing of tricyclic antidepressants." Clinical Pharmacology & Therapeutics5 (2013): 402-408.
• Wang, Pan-Fen, Alicia Neiner, and Evan D. Kharasch. "Efavirenz metabolism: influence of polymorphic CYP2B6 variants and stereochemistry." Drug Metabolism and Disposition10 (2019): 1195-1205.
• Kane, Megan, and Laura Dean. "Eliglustat Therapy and CYP2D6 Genotype." (2020).
• Jukić, Marin M., et al. "Impact of CYP2C19 genotype on escitalopram exposure and therapeutic failure: a retrospective study based on 2,087 patients." American Journal of Psychiatry5 (2018): 463-470.
• Zhang, Jingliang, et al. "Association between MDR1/CYP3A4/OPRM1 gene polymorphisms and the post-caesarean fentanyl analgesic effect on Chinese women." Gene 661 (2018): 78-84.
• Gerhard, Glenn S., Scott Kaniper, and Barbara Paynton. "Fentanyl overdoses and pharmacogenetics." Pharmacogenetics and genomics1 (2020): 5-8.
• Doki, Kosuke, et al. "Effects of CYP2D6 genotypes on age‐related change of flecainide metabolism: involvement of CYP1A2‐mediated metabolism." British journal of clinical pharmacology1 (2009): 89-96.
• Wigle, Theodore J., et al. "DPYD and fluorouracil-based chemotherapy: mini review and case report." Pharmaceutics5 (2019): 199.
• Limviphuvadh, Vachiranee, et al. "Discovering novel SNPs that are correlated with patient outcome in a Singaporean cancer patient cohort treated with gemcitabine-based chemotherapy." BMC cancer1 (2018): 1-16.
• Waade, Ragnhild Birkeland, Vigdis Solhaug, and Gudrun Høiseth. "Impact of CYP2D6 on serum concentrations of flupentixol, haloperidol, perphenazine and zuclopenthixol." British Journal of Clinical Pharmacology5 (2021): 2228-2235.
• Oliveira-Paula, Gustavo H., et al. "Pharmacogenomics and hypertension: current insights." Pharmacogenomics and Personalized Medicine 12 (2019): 341.
• Dean, Laura. "Irinotecan therapy and UGT1A1 genotype." (2018).
• Corvol, Harriet, et al. "SLC26A9 gene is associated with lung function response to ivacaftor in patients with cystic fibrosis." Frontiers in pharmacology 9 (2018): 828.
• Mougey, Edward B., et al. "CYP2C19 and STAT6 variants influence the outcome of proton pump inhibitor therapy in pediatric eosinophilic esophagitis." Journal of pediatric gastroenterology and nutrition5 (2019): 581.
• Cui, X‐J., A‐G. Zhao, and X‐L. Wang. "Correlations of AFAP 1, GMDS and PTGFR gene polymorphisms with intra‐ocular pressure response to latanoprost in patients with primary open‐angle glaucoma." Journal of Clinical Pharmacy and Therapeutics1 (2017): 87-92.
• Cho, Chang‑Keun, et al. "Physiologically based pharmacokinetic (PBPK) modeling of meloxicam in different CYP2C9 genotypes." Archives of pharmacal research12 (2021): 1076-1090.
• Gerbek, Tina, et al. "Role of TPMT and ITPA variants in mercaptopurine disposition." Cancer chemotherapy and pharmacology3 (2018): 579-586.
• Chen, Peixian, et al. "Association of SLC22A1 rs622342 and ATM rs11212617 polymorphisms with metformin efficacy in patients with type 2 diabetes." Pharmacogenetics and Genomics2 (2021): 67-71.
• López-Rodríguez, Rosario, et al. "Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis." Scientific reports1 (2018): 1-8.
• Meloche, Maxime, et al. "CYP2D6 polymorphism and its impact on the clinical response to metoprolol: A systematic review and meta‐analysis." British journal of clinical pharmacology6 (2020): 1015-1033.
• Campa, Daniele, et al. "Association of ABCB1/MDR1 and OPRM1 gene polymorphisms with morphine pain relief." Clinical pharmacology & therapeutics4 (2008): 559-566.
• Hartwell, Emily E., et al. "Systematic review and meta‐analysis of the moderating effect of rs1799971 in OPRM1, the mu‐opioid receptor gene, on response to naltrexone treatment of alcohol use disorder." Addiction8 (2020): 1426-1437.
• Yoon, Ha Young, et al. "Effects of CYP2B6 polymorphisms on plasma nevirapine concentrations: a systematic review and meta-analysis." Scientific Reports1 (2020): 1-7.
• Pérez‐Morales, Rebeca, et al. "CHRNA3 rs1051730 and CHRNA5 rs16969968 polymorphisms are associated with heavy smoking, lung cancer, and chronic obstructive pulmonary disease in a mexican population." Annals of human genetics6 (2018): 415-424.
• van der Schans, Jurjen, et al. "Effects of Pharmacogenetic Screening for CYP2D6 among elderly starting therapy with nortriptyline or venlafaxine: a pragmatic randomized controlled trial (CYSCE Trial)." Journal of Clinical Psychopharmacology6 (2019): 583-590.
• Niewiński, Przemysław A., et al. "CYP2D6 basic genotyping as a potential tool to improve the antiemetic efficacy of ondansetron in prophylaxis of postoperative nausea and vomiting." Advances in Clinical and Experimental Medicine11 (2018): 1499-1503.
• Jung, Eui Hyun, et al. "Effects of paroxetine on the pharmacokinetics of atomoxetine and its metabolites in different CYP2D6 genotypes." Archives of pharmacal research12 (2020): 1356-1363.
• Silvado, Carlos Eduardo, Vera Cristina Terra, and Carlos Alexandre Twardowschy. "CYP2C9 polymorphisms in epilepsy: influence on phenytoin treatment." Pharmacogenomics and Personalized Medicine 11 (2018): 51.
• Chapron, Brian D., et al. "The Respective Roles of CYP3A4 and CYP2D6 in the Metabolism of Pimozide to Established and Novel Metabolites." Drug Metabolism and Disposition11 (2020): 1113-1120.
• Dean, Laura. "Piroxicam Therapy and CYP2C9 Genotype." Medical Genetics Summaries [Internet] (2019).
• Ruiz-Iruela, Cristina, et al. "KIF6 gene as a pharmacogenetic marker for lipid-lowering effect in statin treatment." PloS one10 (2018): e0205430.
• Doki, Kosuke, et al. "Effect of CYP2D6 genetic polymorphism on peak propafenone concentration: no significant effect of CYP2D6* 10." Pharmacogenomics18 (2020): 1279-1288.
• Ma, Lingyue, et al. "Association between dopamine receptor gene polymorphisms and effects of risperidone treatment: A systematic review and meta‐analysis." Basic & Clinical Pharmacology & Toxicology1 (2019): 94-104.
• Merćep, Iveta, et al. "Loss of function polymorphisms in SLCO1B1 (c. 521T> C, rs4149056) and ABCG2 (c. 421C> A, rs2231142) genes are associated with adverse events of rosuvastatin: a case–control study." European Journal of Clinical Pharmacology2 (2022): 227-236.
• Hikino, Keiko, et al. "A meta‐analysis of the influence of ADRB2 genetic polymorphisms on albuterol (salbutamol) therapy in patients with asthma." British Journal of Clinical Pharmacology4 (2021): 1708-1716.
• Poweleit, Ethan A., et al. "Pharmacogenetics of sertraline tolerability and response in pediatric anxiety and depressive disorders." Journal of Child and Adolescent Psychopharmacology5 (2019): 348-361.
• Cooper‐DeHoff, Rhonda M., et al. "The Clinical Pharmacogenetics Implementation Consortium Guideline for SLCO1B1, ABCG2, and CYP2C9 genotypes and Statin‐Associated Musculoskeletal Symptoms." Clinical Pharmacology & Therapeutics (2022).
• Zhu, Guang-dan, et al. "Genetic Testing for BCHE Variants Identifies Patients at Risk of Prolonged Neuromuscular Blockade in Response to Succinylcholine." Pharmacogenomics and Personalized Medicine 13 (2020): 405.
• Chen, Lucy, and GV Ramesh Prasad. "CYP3A5 polymorphisms in renal transplant recipients: influence on tacrolimus treatment." Pharmacogenomics and personalized medicine 11 (2018): 23.
• Cronin-Fenton, Deirdre P., and Per Damkier. "Tamoxifen and CYP2D6: a controversy in pharmacogenetics." Advances in pharmacology 83 (2018): 65-91.
• Cheli, Stefania, et al. "ABCC4 single-nucleotide polymorphisms as markers of tenofovir disoproxil fumarate-induced kidney impairment." The Pharmacogenomics Journal5 (2021): 586-593.
• Theken, Katherine N., et al. "Clinical Pharmacogenetics Implementation Consortium Guideline (CPIC) for CYP2C9 and nonsteroidal anti‐inflammatory drugs." Clinical Pharmacology & Therapeutics2 (2020): 191-200.
• Dean, Laura. "Thioguanine Therapy and TPMT and NUDT15 Genotype." Medical Genetics Summaries [Internet] (2020).
• Arafa, Manar Hamed, and Hebatallah Husseini Atteia. "Genetic polymorphisms of cytochrome P450 2D6 (CYP2D6) are associated with long term tramadol treatment-induced oxidative damage and hepatotoxicity." Toxicology and applied pharmacology 346 (2018): 37-44.
• TANG, Mufei, Yunzhu SHEN, and Baoguo ZHANG. "Influence of CYP2D6 gene polymorphism on the effect of tropisetron in preventing chemotherapy induced nausea and vomiting." Chinese Journal of Clinical Pharmacology and Therapeutics7 (2020): 817.
• Saneto, Russell P., et al. "POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders." Seizure3 (2010): 140-146.
• Kringen, Marianne K., et al. "The influence of combined CYP2D6 and CYP2C19 genotypes on venlafaxine and O-desmethylvenlafaxine concentrations in a large patient cohort." Journal of clinical psychopharmacology2 (2020): 137-144.

Zhang, Ying, et al. "The influence of CYP2C19 polymorphisms on voriconazole trough concentrations: Systematic review and meta‐analysis." Mycoses 64.8 (2021): 860-873.

• Wang, Huaiyan, et al. "3-Methylcrotonyl-CoA carboxylase deficiency newborn screening in a population of 536,008: is routine screening necessary?." Journal of Pediatric Endocrinology and Metabolism12 (2019): 1321-1326.
• Miller, Sharon A., et al. "Novel missense MTTP gene mutations causing abetalipoproteinemia." Biochimica et Biophysica Acta (BBA)-Molecular and Cell Biology of Lipids10 (2014): 1548-1554.
• Weisschuh, Nicole, et al. "Deep‐intronic variants in CNGB3 cause achromatopsia by pseudoexon activation." Human mutation1 (2020): 255-264.
• Souza, Paulo Victor Sgobbi, et al. "GBE1‐related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes." Journal of Inherited Metabolic Disease3 (2021): 534-543.
• Seixas, Susana, and Patricia Isabel Marques. "Known mutations at the cause of Alpha-1 antitrypsin deficiency an updated overview of SERPINA1 variation spectrum." The application of clinical genetics 14 (2021): 173.
• Savige, Judy, and Philip Harraka. "Pathogenic Variants in the Genes Affected in Alport Syndrome (COL4A3–COL4A5) and Their Association With Other Kidney Conditions: A Review." American Journal of Kidney Diseases6 (2021): 857-864.
• Hearn, Tom. "ALMS1 and Alström syndrome: a recessive form of metabolic, neurosensory and cardiac deficits." Journal of Molecular Medicine1 (2019): 1-17.
• Akçakaya, Nihan Hande, et al. "A new splice-site mutation in SLC12A6 causing Andermann syndrome with motor neuronopathy." Journal of Neurology, Neurosurgery & Psychiatry10 (2018): 1123-1125.
• Unal, Edip, et al. "Aromatase deficiency due to a novel mutation in CYP19A1 gene." Journal of clinical research in pediatric endocrinology4 (2018): 377.
• Dursun, Fatma, and Serdar Ceylaner. "A novel homozygous CYP19A1 gene mutation: aromatase deficiency mimicking congenital adrenal hyperplasia in an infant without obvious maternal virilisation." Journal of Clinical Research in Pediatric Endocrinology2 (2019): 196.
• Amirifar, Parisa, et al. "Ataxia‐telangiectasia: A review of clinical features and molecular pathology." Pediatric Allergy and Immunology3 (2019): 277-288.
• Frattini, Annalisa, et al. "Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis." Nature genetics3 (2000): 343-346.
• Goggolidou, Paraskevi, and Taylor Richards. "The genetics of autosomal recessive polycystic kidney disease (ARPKD)." Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease (2022): 166348.
• Birkenhäger, Ralf, et al. "Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure." Nature genetics3 (2001): 310-314.
• Mahdieh, Nejat, and Bahareh Rabbani. "Beta thalassemia in 31,734 cases with HBB gene mutations: pathogenic and structural analysis of the common mutations; Iran as the crossroads of the Middle East." Blood reviews6 (2016): 493-508.
• Khan, Aisha Moeen, et al. "The spectrum of beta-thalassemia mutations in the 22 Arab countries: a systematic review." Expert review of hematology1 (2021): 109-122.
• Chen, Si, et al. "Two novel HSD17B4 heterozygous mutations in association with D-Bifunctional protein deficiency: a case report and literature review." Frontiers in pediatrics 9 (2021).
• Hymes, Jeanne, Christine M. Stanley, and Barry Wolf. "Mutations in BTD causing biotinidase deficiency." Human mutation5 (2001): 375-381.
• Gallus, G. N., M. T. Dotti, and A. Federico. "Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene." Neurological Sciences2 (2006): 143-149.
• Tang, Yi, et al. "A novel mutation in the CYP27A1 gene in a family with cerebrotendinous xanthomatosis." International Journal of Neuroscience10 (2020): 972-975.
• Ouchkat, Fatima, et al. "Novel pathogenic VPS13A mutation in Moroccan family with Choreoacanthocytosis: a case report." BMC Medical Genetics1 (2020): 1-6.
• Köker, M. Y., et al. "Six different CYBA mutations including three novel mutations in ten families from Turkey, resulting in autosomal recessive chronic granulomatous disease." European journal of clinical investigation4 (2009): 311-319.
• Köse, Melis Demir, et al. "Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13." Journal of Pediatric Endocrinology and Metabolism1 (2020): 157-163.
• Rodrigues, Jonathan M., et al. "Cohen syndrome: review of the literature." Cureus9 (2018).
• Balikova, Irina, et al. "Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome." Human mutation9 (2009): E845-E854.
• Foro, Tamara. Genetic causes of combined pituitary hormone deficiency. Diss. University of Zagreb. School of Medicine. Department of Pediatrics, 2021.
• Narasimhan, Mithra L., and Ahmed Khattab. "Genetics of congenital adrenal hyperplasia and genotype-phenotype correlation." Fertility and Sterility1 (2019): 24-29.
• Concolino, Paola, and Alessandra Costella. "Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency: a comprehensive focus on 233 pathogenic variants of CYP21A2 gene." Molecular diagnosis & therapy3 (2018): 261-280.
• Wilson, Matthew P., and Gert Matthijs. "The evolving genetic landscape of congenital disorders of glycosylation." Biochimica et Biophysica Acta (BBA)-General Subjects11 (2021): 129976.
• De Franco, Elisa, et al. "Update of variants identified in the pancreatic β‐cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes." Human mutation5 (2020): 884-905.
• McMacken, Grace, et al. "The increasing genetic and phenotypical diversity of congenital myasthenic syndromes." Neuropediatrics04 (2017): 294-308.
• Wedenoja, Satu, et al. "Update on SLC26A3 mutations in congenital chloride diarrhea." Human mutation7 (2011): 715-722.
• Li, Shimin, et al. "R125H, W240S, C386R, and V507I SLC4A11 mutations associated with corneal endothelial dystrophy affect the transporter function but not trafficking in PS120 cells." Experimental eye research 180 (2019): 86-91.
• Miao, Hui, et al. "Analysis of novel heterozygous mutations in the CYP11B2 gene causing congenital aldosterone synthase deficiency and literature review." Steroids 150 (2019): 108448.
• Merakou, Christina, et al. "Molecular analysis of the CYP11B2 gene in 62 patients with hypoaldosteronism due to aldosterone synthase deficiency." The Journal of Clinical Endocrinology & Metabolism1 (2021): e182-e191.
• Maruo, Yoshihiro, et al. "Genotype of UGT1A1 and phenotype correlation between Crigler–Najjar syndrome type II and Gilbert syndrome." Journal of gastroenterology and hepatology2 (2016): 403-408.
• Sharma, N., and G. R. Cutting. "The genetics and genomics of cystic fibrosis." Journal of Cystic Fibrosis 19 (2020): S5-S9.
• David, Dries, et al. "Molecular basis of cystinosis: geographic distribution, functional consequences of mutations in the CTNS gene, and potential for repair." Nephron2 (2019): 133-146.
• Riise Stensland, Hilde Monica Frostad, et al. "Identification of 83 novel alpha‐mannosidosis‐associated sequence variants: Functional analysis of MAN2B1 missense mutations." Human mutation3 (2012): 511-520.
• Pallet, Nicolas, et al. "A comprehensive population-based study comparing the phenotype and genotype in a pretherapeutic screen of dihydropyrimidine dehydrogenase deficiency." British journal of cancer5 (2020): 811-818.
• Forghani, Irman. "Updates in clinical and genetics aspects of hypermobile Ehlers Danlos syndrome." Balkan medical journal1 (2019): 12.
• Ritelli, Marco, and Marina Colombi. "Molecular genetics and pathogenesis of Ehlers–Danlos syndrome and related connective tissue disorders." Genes5 (2020): 547.
• Louie, Ke’ale W., Yuji Mishina, and Honghao Zhang. "Molecular and cellular pathogenesis of Ellis-van Creveld syndrome: Lessons from targeted and natural mutations in animal models." Journal of developmental biology4 (2020): 25.
• Park, Chang-Hun, et al. "Congenital factor V deficiency from compound heterozygous mutations with a novel variant c. 2426del (p. Pro809Hisfs∗ 2) in the F5 gene: A case report." Medicine5 (2020).
• Dall'Osso, Claudia, et al. "Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern." haematologica10 (2008): 1505-1513.
• Benito-Vicente, Asier, et al. "Validation of LDLr activity as a tool to improve genetic diagnosis of familial hypercholesterolemia: a retrospective on functional characterization of LDLr variants." International Journal of Molecular Sciences6 (2018): 1676.
• Meshkov, Alexey, et al. "The LDLR, APOB, and PCSK9 variants of index patients with familial hypercholesterolemia in Russia." Genes1 (2021): 66.
• Brautbar, Ariel, et al. "Genetics of familial hypercholesterolemia." Current atherosclerosis reports4 (2015): 1-17.
• Jéru, Isabelle, et al. "The risk of familial Mediterranean fever in MEFV heterozygotes: a statistical approach." PLoS One7 (2013): e68431.
• Kimble, Danielle C., et al. "A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families." Human mutation2 (2018): 237-254.
• Wan, Xuesi, et al. "Heterozygosity for a Pathogenic Variant in SLC12A3 That Causes Autosomal Recessive Gitelman Syndrome Is Associated with Lower Serum Potassium." Journal of the American Society of Nephrology3 (2021): 756-765.
• Riveira-Munoz, Eva, et al. "Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome." Journal of the American Society of Nephrology4 (2007): 1271-1283.
• He, Ying, et al. "Glucose-6-phosphate dehydrogenase deficiency in the Han Chinese population: molecular characterization and genotype–phenotype association throughout an activity distribution." Scientific Reports1 (2020): 1-10.
• Devi, Akella Radha Rama, Lokesh Lingappa, and Shaik Mohammad Naushad. "Identification of Two Novel Mutations in Aminomethyltransferase Gene in Cases of Glycine Encephalopathy." Journal of pediatric genetics03 (2018): 097-102.
• Huang, Y. L., et al. "GAA gene variants and genotype-phenotype correlations in patients with glycogen storage disease type Ⅱ." Zhonghua er ke za zhi= Chinese Journal of Pediatrics3 (2021): 189-194.
• Katsarou, Martha-Spyridoula, et al. "Hemochromatosis: hereditary hemochromatosis and HFE gene." Vitamins and hormones 110 (2019): 201-222.
• Deljoomanesh, Neshat. Genetic Polymorphisms in Fructokinase and Aldolase B, and Biomarkers of the Metabolic Syndrome. Diss. University of Toronto (Canada), 2017.
• Özdemir, Taha Reşid, et al. "A case of spastic paraplegia-15 with a novel pathogenic variant in ZFYVE26 gene." International Journal of Neuroscience12 (2019): 1198-1202.
• Wu, Hsin-Ru, et al. "Impaired glucose homeostasis and a novel HLCS pathogenic variant in holocarboxylase synthetase deficiency: a report of two cases and brief review." Journal of Pediatric Endocrinology and Metabolism11 (2020): 1481-1486.
• Suzuki, Yoichi, et al. "Mutations in the holocarboxylase synthetase gene HLCS." Human Mutation4 (2005): 285-290.
• Li, Dong-Xiao, et al. "Eight novel mutations of CBS gene in nine Chinese patients with classical homocystinuria." World Journal of Pediatrics2 (2018): 197-203.
• Caddeo, A., et al. "Molecular analysis of three known and one novel LPL variants in patients with type I hyperlipoproteinemia." Nutrition, Metabolism and Cardiovascular Diseases2 (2018): 158-164.
• Oyachi, Maki, et al. "A case of perinatal hypophosphatasia with a novel mutation in the ALPL gene: clinical course and review of the literature." clinical pediatric endocrinology3 (2018): 179-186.
• Mao, Xiaojian, et al. "Two novel mutations in the ALPL gene of unrelated Chinese children with hypophosphatasia: case reports and literature review." BMC pediatrics1 (2019): 1-8.
• Huizing, Marjan, and Donna M. Krasnewich. "Hereditary inclusion body myopathy: a decade of progress." Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease9 (2009): 881-887.
• D'Annibale, Olivia M., et al. "Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis." Molecular genetics and metabolism1-2 (2021): 29-36.
• Lin, Yiming, et al. "Newborn screening for isovaleric acidemia in Quanzhou, China." Clinica Chimica Acta 509 (2020): 25-29.
• Parisi, Melissa A. "The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity." Translational science of rare diseases1-2 (2019): 25-49.
• Gana, Simone, Valentina Serpieri, and Enza Maria Valente. "Genotype–phenotype correlates in Joubert syndrome: A review." American Journal of Medical Genetics Part C: Seminars in Medical Genetics. Hoboken, USA: John Wiley & Sons, Inc., 2022.
• Youssefian, Leila, et al. "Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families." Human mutation3 (2019): 288-298.
• Den Hollander, Anneke I., et al. "Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis." Nature genetics7 (2007): 889-895.
• Kondkar, Altaf A., and Khaled K. Abu-Amero. "Leber congenital amaurosis: Current genetic basis, scope for genetic testing and personalized medicine." Experimental Eye Research 189 (2019): 107834.
• Cerino, Mathieu, et al. "Extension of the phenotypic spectrum of GLE1‐related disorders to a mild congenital form resembling congenital myopathy." Molecular genetics & genomic medicine8 (2020): e1277.
• Keefe, Matthew D., et al. "Vanishing white matter disease expression of truncated EIF2B5 activates induced stress response." elife 9 (2020): e56319.
• Pathak, Pankaj, et al. "Mutational Spectrum of CAPN3 with genotype-phenotype correlations in limb girdle muscular dystrophy type 2A/R1 (LGMD2A/LGMDR1) patients in India." Journal of Neuromuscular Diseases1 (2021): 125-136.
• Li, Qiao, et al. "Next-generation sequencing identified a novel DYSF variant in a patient with limb-girdle muscular dystrophy type 2B: a case report." Medicine41 (2020).
• Sperandeo, Maria Pia, Generoso Andria, and Gianfranco Sebastio. "Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene." Human mutation1 (2008): 14-21.
• Imtiaz, Faiqa, et al. "Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease." Molecular Genetics and Metabolism Reports 11 (2017): 17-23.
• Li, Xiyuan, et al. "Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: report on eight cases." European Journal of Medical Genetics11 (2015): 617-623.
• Zhang, Ping, et al. "Identification of Pathogenic Variants in RPGRIP1L with Meckel Syndrome and Preimplantation Genetic Testing in a Chinese Family." Reproductive Sciences (2022): 1-8.
• Hong, Zhidan, et al. "Three Novel Variants of CEP290 and CC2D2DA and a Link Between ZNF77 and SHH Signaling Pathway Are Found in Two Meckel-Gruber Syndrome Fetuses." Reproductive Sciences (2022): 1-11.
• Caicedo-Herrera, Gabriela, et al. "Novel ATP7A gene mutation in a patient with Menkes disease." The application of clinical genetics 11 (2018): 151.
• Hettiarachchi, D., and V. H. W. Dissanayake. "Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD)." BMC research notes1 (2019): 1-4.
• Cesani, Martina, et al. "Mutation update of ARSA and PSAP genes causing metachromatic leukodystrophy." Human Mutation1 (2016): 16-27.
• Liu, Mei-Ying, et al. "Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria." Journal of human genetics9 (2010): 621-626.
• Al-Alawi, Badriya, et al. "Mucolipidosis Type IV in Omani Families with a Novel MCOLN1 Mutation: Search for Evidence of Founder Effect." Genes2 (2022): 248.
• Yogalingam, Gouri, and John J. Hopwood. "Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications." Human mutation4 (2001): 264-281.
• Li, Xiaohua, et al. "A novel mutation of SGSH and clinical features analysis of mucopolysaccharidosis type IIIA." Medicine52 (2018).
• Peracha, Hira, et al. "Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA." Molecular genetics and metabolism1-2 (2018): 18-37.
• Verma, Shalja, et al. "A molecular genetics view on Mucopolysaccharidosis Type II." Mutation Research/Reviews in Mutation Research 788 (2021): 108392.
• Carrera‐García, Laura, et al. "CHRNG‐related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings." American Journal of Medical Genetics Part A6 (2019): 915-926.
• Hamanaka, Kohei, et al. "RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy." Genetics in Medicine7 (2019): 1629-1638.
• Gao, Chao, Paul J. Higgins, and Wenzheng Zhang. "AQP2: mutations associated with congenital nephrogenic diabetes insipidus and regulation by post-translational modifications and protein-protein interactions." Cells10 (2020): 2172.
• Gardner, Emily, et al. "Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease." Human Mutation11 (2019): 1924-1938.
• Mole, Sara E., et al. "New mutations in the neuronal ceroid lipofuscinosisgenes." European Journal of Paediatric Neurology 5 (2001): 7-10.
• Mole, Sara E., and Susan L. Cotman. "Genetics of the neuronal ceroid lipofuscinoses (Batten disease)." Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease10 (2015): 2237-2241.
• Ory, Daniel S. "The Niemann-Pick disease genes: regulators of cellular cholesterol homeostasis." Trends in cardiovascular medicine2 (2004): 66-72.
• Lins, Stephan, et al. "Clinical variability and expression of the NBN c. 657del5 allele in Nijmegen Breakage Syndrome." Gene1 (2009): 12-17.
• Gobin‐Limballe, Stephanie, et al. "OTC deficiency in females: Phenotype‐genotype correlation based on a 130‐family cohort." Journal of Inherited Metabolic Disease5 (2021): 1235-1247.
• Morita, Atsushi, et al. "Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency." Brain and Development3 (2021): 475-481.
• Jha, Ruchika, et al. "Two Novel Compound Heterozygous ADGRG1/GPR56 Mutations Associated with Diffuse Cerebral Polymicrogyria." Journal of Pediatric Genetics01 (2022): 074-080.
• Carneiro, Fábio, et al. "Case Report: Diffuse Polymicrogyria Associated With a Novel ADGRG1 Variant." Frontiers in Pediatrics 9 (2021).
• Zariwala, Maimoona A., et al. "Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation." American journal of respiratory and critical care medicine8 (2006): 858-866.
• Geremek, Maciej, and Micha Witt. "Primary ciliary dyskinesia: genes, candidate genes and chromosomal regions." Journal of applied genetics3 (2004): 347-362.
• Haddad, Amine, et al. "Meta-analysis of CYP1B1 gene mutations in primary congenital glaucoma patients." European Journal of Ophthalmology6 (2021): 2796-2807.
• Murad, Hossam, et al. "Molecular analysis of the AGXT gene in Syrian patients suspected with primary hyperoxaluria type 1." BMC Medical Genomics1 (2021): 1-11.
• Danpure, Christopher J., and Gillian Rumsby. "Enzymology and molecular genetics of primary hyperoxaluria type 1. Consequences for clinical management." Calcium oxalate in biological systems. CRC Press, 2020. 189-205.
• Chen, Xue, and Chen Zhao. "The Retinitis Pigmentosa Genes." Advances in Vision Research, Volume III. Springer, Singapore, 2021. 207-221.
• Gao, Feng-Juan, et al. "Genetic and clinical findings in a large cohort of Chinese patients with suspected retinitis pigmentosa." Ophthalmology11 (2019): 1549-1556.
• Xiong, Shiqiu, et al. "Podocytic infolding in Schimke immuno-osseous dysplasia with novel SMARCAL1 mutations: a case report." BMC nephrology1 (2020): 1-5.
• Santangelo, Luisa, et al. "A novel SMARCAL1 mutation associated with a mild phenotype of Schimke immuno-osseous dysplasia (SIOD)." BMC nephrology1 (2014): 1-5.
• Ning, Ke, et al. "Defective INPP5E distribution in NPHP1‐related Senior–Loken syndrome." Molecular Genetics & Genomic Medicine1 (2021): e1566.
• Daum, Hagit, et al. "Smith–Lemli–Opitz syndrome: what is the actual risk for couples carriers of the DHCR7: c. 964-1G> C variant?." European Journal of Human Genetics7 (2020): 938-942.
• Bertani, Valeria, et al. "A pathogenic HEXA missense variant in wild boars with Tay-Sachs disease." Molecular genetics and metabolism3 (2021): 297-306.
• Rimawi, Niveen, Annie RAMBAUD-COUSSON, and Hisham Darwish. "Aminotrasferase (TAT) Gene Mutations Among Palestinian Tyrosinemia Type II Patients: An extended study." Journal of the Arab American University. Volume1 (2018).
• Čulic, Vida, et al. "Tyrosinemia type II (Richner–Hanhart syndrome): A new mutation in the TAT gene." European Journal of Medical Genetics3 (2011): 205-208.
• Roy, Shubhrajit, et al. "Analysis of Wilson disease mutations revealed that interactions between different ATP7B mutants modify their properties." Scientific reports1 (2020): 1-15.
• Zhao, Na, et al. "Identification of Two Novel Compound Heterozygous EIF2AK3 Mutations Underlying Wolcott–Rallison Syndrome in a Chinese Family." Frontiers in Pediatrics 9 (2021).
• Ozbek, M. Nuri, et al. "Wolcott–Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literature." Pediatric diabetes4 (2010): 279-285.
• Martens, Marie Christine, Steffen Emmert, and Lars Boeckmann. "Xeroderma Pigmentosum: Gene Variants and Splice Variants." Genes8 (2021): 1173.

Yu, Hui-Ling, et al. "Two novel mutations of PEX6 in one Chinese Zellweger spectrum disorder and their clinical characteristics." Annals of Translational Medicine 7.16 (2019).