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Dron, J. S. et al. Genetic Predictor to Identify Individuals With High Lipoprotein(a) Concentrations. Circ Genom Precis Med 14, e003182 (2021).

Ott, J., Wang, J. & Leal, S. M. Genetic linkage analysis in the age of whole-genome sequencing. Nat Rev Genet 16, 275-84 (2015).

Ulirsch, J. C. et al. The Genetic Landscape of Diamond-Blackfan Anemia. Am J Hum Genet 103, 930-947 (2018).

Ulirsch, J. C. et al. The Genetic Landscape of Diamond-Blackfan Anemia. Am J Hum Genet 104, 356 (2019).

Lopez-Rivera, E. et al. Genetic Drivers of Kidney Defects in the DiGeorge Syndrome. N Engl J Med 376, 742-754 (2017).

Wojcik, M. H., Reimers, R., Poorvu, T. & Agrawal, P. B. Genetic diagnosis in the fetus. J Perinatol 40, 997-1006 (2020).

Robbins, S. M., Thimm, M. A., Valle, D. & Jelin, A. C. Genetic diagnosis in first or second trimester pregnancy loss using exome sequencing: a systematic review of human essential genes. J Assist Reprod Genet 36, 1539-1548 (2019).

Rochtus, A. et al. Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort. Epilepsia 61, 249-258 (2020).

Bamshad, M. J., Magoulas, P. L. & Dent, K. M. Genetic counselors on the frontline of precision health. Am J Med Genet C Semin Med Genet 178, 5-9 (2018).

Darnell, R. B. The Genetic Control of Stoichiometry Underlying Autism. Annu Rev Neurosci 43, 509-533 (2020).

Peter, B. et al. Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech. PLoS One 11, e0153864 (2016).

Chen, S. et al. Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS). JBMR Plus 4, e10335 (2020).

Chong, J. X. et al. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. Am J Hum Genet 97, 199-215 (2015).

Campeau, P. M. et al. The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurol 13, 44-58 (2014).

Li, A. H. et al. Genetic architecture of laterality defects revealed by whole exome sequencing. Eur J Hum Genet 27, 563-573 (2019).

Kasela, S. et al. Genetic and non-genetic factors affecting the expression of COVID-19-relevant genes in the large airway epithelium. Genome Med 13, 66 (2021).

Lin, M. et al. Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1. Mol Genet Genomic Med 8, e1023 (2020).

Chinn, I. K. et al. Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis. Blood 132, 89-100 (2018).

Siggs, O. M. et al. The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort. Clin Genet 97, 764-769 (2020).

Moccia, A. et al. Genetic analysis of CHARGE syndrome identifies overlapping molecular biology. Genet Med 20, 1022-1029 (2018).

Karaca, E. et al. Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. Neuron 88, 499-513 (2015).

Li, B., Wang, G. T. & Leal, S. M. Generation of sequence-based data for pedigree-segregating Mendelian or Complex traits. Bioinformatics 31, 3706-8 (2015).

Klämbt, V. et al. Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches. Kidney Int Rep 6, 460-471 (2021).

Kircher, M. et al. A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet 46, 310-5 (2014).

Au, P. Y. Billie et al. GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK. Hum Mutat 36, 1009-1014 (2015).

Sobreira, N., Schiettecatte, F., Valle, D. & Hamosh, A. GeneMatcher: a matching tool for connecting investigators with an interest in the same gene. Hum Mutat 36, 928-30 (2015).

Qiao, D. et al. Gene-based segregation method for identifying rare variants in family-based sequencing studies. Genet Epidemiol 41, 309-319 (2017).

Sewda, A. et al. Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects. PLoS One 15, e0234357 (2020).

Chong, J. X. et al. Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features. Genet Med 18, 788-95 (2016).

Cowan, J. R. et al. Gain-of-Function Variants in Dilated Cardiomyopathy. Circ Genom Precis Med 13, e002892 (2020).

Absalom, N. L. et al. Gain-of-function variants identified in vigabatrin-hypersensitive epileptic encephalopathies. Brain Commun 2, fcaa162 (2020).

F

Santos-Cortez, R. Lyn P. et al. FUT2 Variants Confer Susceptibility to Familial Otitis Media. Am J Hum Genet 103, 679-690 (2018).

Hildebrandt, C. C. et al. Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome. Am J Med Genet A (2021). doi:10.1002/ajmg.a.62194

Zhang, L. Xin et al. Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. Genet Med 22, 1338-1347 (2020).

Roosing, S. et al. Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. Elife 4, e06602 (2015).

Martinelli, S. et al. Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes. Am J Hum Genet 102, 309-320 (2018).

Gonzaga-Jauregui, C. et al. Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide. Eur J Hum Genet 28, 1243-1264 (2020).

Choate, K. A. et al. Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti. J Clin Invest 125, 1703-7 (2015).

Spier, I. et al. Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas. Int J Cancer 137, 320-31 (2015).

Hwang, J. L. et al. FOXP3 mutations causing early-onset insulin-requiring diabetes but without other features of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. Pediatr Diabetes 19, 388-392 (2018).

Kuang, S. - Q. et al. FOXE3 mutations predispose to thoracic aortic aneurysms and dissections. J Clin Invest 126, 948-61 (2016).

Mroczek, M., Durmus, H., Topf, A., Parman, Y. & Straub, V. Four Individuals with a Homozygous Mutation in Exon 1f of the Gene and Associated Myasthenic Features. Genes (Basel) 11, (2020).

Keramati, A. R. et al. A form of the metabolic syndrome associated with mutations in DYRK1B. N Engl J Med 370, 1909-1919 (2014).

Xavier, C. et al. Forensic evaluation of the Asia Pacific ancestry-informative MAPlex assay. Forensic Sci Int Genet 48, 102344 (2020).

Pedroza, L. Alberto et al. First Case of Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis. Front Pediatr 5, 17 (2017).

Beck, T. F. et al. FBN1 contributing to familial congenital diaphragmatic hernia. Am J Med Genet A 167A, 831-6 (2015).

Gee, H. Yung et al. FAT1 mutations cause a glomerulotubular nephropathy. Nat Commun 7, 10822 (2016).

Cheung, Y. Him, Wang, G., Leal, S. M. & Wang, S. A fast and noise-resilient approach to detect rare-variant associations with deep sequencing data for complex disorders. Genet Epidemiol 36, 675-85 (2012).

Choi, S. et al. FARVATX: Family-Based Rare Variant Association Test for X-Linked Genes. Genet Epidemiol 40, 475-85 (2016).

Wang, L. et al. Family-Based Rare Variant Association Analysis: A Fast and Efficient Method of Multivariate Phenotype Association Analysis. Genet Epidemiol 40, 502-11 (2016).

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