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Weinstein, M. M. et al. Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia. Am J Med Genet A 170, 3298-3302 (2016).
Campbell, I. M., Shaw, C. A., Stankiewicz, P. & Lupski, J. R. Somatic mosaicism: implications for disease and transmission genetics. Trends Genet 31, 382-92 (2015).
Morita, H. & Komuro, I. Somatic mutations in cerebral cortical malformations. N Engl J Med 371, 2037 (2014).
Jamuar, S. S. et al. Somatic mutations in cerebral cortical malformations. N Engl J Med 371, 733-43 (2014).
Levinsohn, J. L., Sugarman, J. L., McNiff, J. M., Antaya, R. J. & Choate, K. A. Somatic Mutations in NEK9 Cause Nevus Comedonicus. Am J Hum Genet 98, 1030-1037 (2016).
Lim, Y. H., Odell, I. D., Ko, C. J. & Choate, K. A. Somatic p.T771R KDR (VEGFR2) Mutation Arising in a Sporadic Angioma During Ramucirumab Therapy. JAMA Dermatol 151, 1240-3 (2015).
Levinsohn, J. L., Sugarman, J. L., Bilguvar, K., McNiff, J. M. & Choate, K. A. Somatic V600E BRAF Mutation in Linear and Sporadic Syringocystadenoma Papilliferum. J Invest Dermatol 135, 2536-2538 (2015).
Wheeler, P. G. et al. SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features. Am J Med Genet A 170, 3165-3171 (2016).
Carvalho, C. M. B. et al. Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome. BMC Med Genet 15, 64 (2014).
Collins, R. L. et al. A structural variation reference for medical and population genetics. Nature 581, 444-451 (2020).
Said, E. et al. Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1. Am J Med Genet A 173, 3098-3103 (2017).
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Yang, N. et al. TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice. Hum Mol Genet 28, 539-547 (2019).
Wu, N. et al. TBX6 null variants and a common hypomorphic allele in congenital scoliosis. N Engl J Med 372, 341-50 (2015).
Makaryan, V. et al. TCIRG1-associated congenital neutropenia. Hum Mutat 35, 824-7 (2014).
Gripp, K. W. et al. Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome. Am J Med Genet A 167A, 271-81 (2015).
Cheng, H. et al. Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. Am J Hum Genet 102, 985-994 (2018).
Brun, F. et al. truncations cause arrhythmogenic right ventricular cardiomyopathy. J Med Genet 57, 254-257 (2020).
Timberlake, A. T. et al. Two locus inheritance of non-syndromic midline craniosynostosis via rare and common alleles. Elife 5, (2016).
Yi, J. - S., Perla, S., Enyenihi, L. & Bennett, A. M. Tyrosyl phosphorylation of PZR promotes hypertrophic cardiomyopathy in PTPN11-associated Noonan syndrome with multiple lentigines. JCI Insight 5, (2020).
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Bayer, D. K. et al. Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray. Clin Exp Immunol 178, 459-69 (2014).
Ullah, I. et al. Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. Hum Genet 138, 593-600 (2019).
Moreno, C. Araujo et al. Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes. Am J Med Genet A 170, 2965-2974 (2016).
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Qiao, D. et al. Whole exome sequencing analysis in severe chronic obstructive pulmonary disease. Hum Mol Genet 27, 3801-3812 (2018).
Daga, A. et al. Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. Kidney Int 93, 204-213 (2018).
Collison, F. T. et al. Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy. Ophthalmic Genet 36, 270-5 (2015).
Garg, A., Kircher, M., Del Campo, M., R Amato, S. & Agarwal, A. K. Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome. Am J Med Genet A 167A, 1796-806 (2015).
Yu, L. et al. Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia. J Med Genet 51, 197-202 (2014).
Bayram, Y. et al. Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome. Am J Med Genet A 164A, 2328-34 (2014).
Warejko, J. K. et al. Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome. Hypertension 71, 691-699 (2018).
Karaca, E. et al. Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome. J Clin Endocrinol Metab 100, E140-7 (2015).
Ramasamy, R. et al. Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia. Fertil Steril 104, 286-91 (2015).
Alodaib, A. et al. Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease. Eur J Hum Genet 25, 79-84 (2016).
Pehlivan, D. et al. Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia. Eur J Hum Genet 22, 1145-8 (2014).
Levinsohn, J. L. et al. Whole-exome sequencing reveals somatic mutations in HRAS and KRAS, which cause nevus sebaceus. J Invest Dermatol 133, 827-830 (2013).
Below, J. E. et al. Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia. Am J Hum Genet 92, 137-43 (2013).
Coban-Akdemir, Z. H. et al. Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation. Am J Med Genet A 182, 1387-1399 (2020).
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Chen, S., Mattei, P., You, J., Sobreira, N. L. & Hinds, G. A. γ-Secretase Mutation in an African American Family With Hidradenitis Suppurativa. JAMA Dermatol 151, 668-70 (2015).

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