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Falah, N. et al. 22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease. Am J Med Genet A 173, 1066-1070 (2017).
A
Larson, E. D. et al. A2ML1 and otitis media: novel variants, differential expression, and relevant pathways. Hum Mutat 40, 1156-1171 (2019).
Larson, E. D. et al. A2ML1 and otitis media: novel variants, differential expression, and relevant pathways. Hum Mutat 40, 1156-1171 (2019).
Larson, E. D. et al. A2ML1 and otitis media: novel variants, differential expression, and relevant pathways. Hum Mutat 40, 1156-1171 (2019).
Larson, E. D. et al. A2ML1 and otitis media: novel variants, differential expression, and relevant pathways. Hum Mutat 40, 1156-1171 (2019).
Larson, E. D. et al. A2ML1 and otitis media: novel variants, differential expression, and relevant pathways. Hum Mutat 40, 1156-1171 (2019).
Flex, E. et al. Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging. Am J Hum Genet 105, 493-508 (2019).
Flex, E. et al. Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging. Am J Hum Genet 105, 493-508 (2019).
Flex, E. et al. Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging. Am J Hum Genet 105, 493-508 (2019).
Carvalho, C. M. B. et al. Absence of heterozygosity due to template switching during replicative rearrangements. Am J Hum Genet 96, 555-64 (2015).
Carvalho, C. M. B. et al. Absence of heterozygosity due to template switching during replicative rearrangements. Am J Hum Genet 96, 555-64 (2015).
Carvalho, C. M. B. et al. Absence of heterozygosity due to template switching during replicative rearrangements. Am J Hum Genet 96, 555-64 (2015).
Saettini, F. et al. Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency. Blood 137, 493-499 (2021).
Yun, T. et al. Accurate, scalable cohort variant calls using DeepVariant and GLnexus. Bioinformatics (2021). doi:10.1093/bioinformatics/btaa1081
Yun, T. et al. Accurate, scalable cohort variant calls using DeepVariant and GLnexus. Bioinformatics (2021). doi:10.1093/bioinformatics/btaa1081
Vilarinho, S. et al. ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment. Proc Natl Acad Sci U S A 113, 11289-11293 (2016).
Cordeddu, V. et al. Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. Hum Mutat 36, 1080-7 (2015).
Cordeddu, V. et al. Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. Hum Mutat 36, 1080-7 (2015).
Cordeddu, V. et al. Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. Hum Mutat 36, 1080-7 (2015).
Lornage, X. et al. ACTN2 mutations cause "Multiple structured Core Disease" (MsCD). Acta Neuropathol 137, 501-519 (2019).
Lornage, X. et al. ACTN2 mutations cause "Multiple structured Core Disease" (MsCD). Acta Neuropathol 137, 501-519 (2019).
Lornage, X. et al. ACTN2 mutations cause "Multiple structured Core Disease" (MsCD). Acta Neuropathol 137, 501-519 (2019).
Ashraf, S. et al. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. J Clin Invest 123, 5179-89 (2013).
Ashraf, S. et al. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. J Clin Invest 123, 5179-89 (2013).
Ashraf, S. et al. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. J Clin Invest 123, 5179-89 (2013).
Santos-Cortez, R. Lyn P. et al. Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish. Hum Mol Genet 23, 3289-98 (2014).
Santos-Cortez, R. Lyn P. et al. Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish. Hum Mol Genet 23, 3289-98 (2014).
Rao, J. et al. Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome. J Clin Invest 127, 4257-4269 (2017).
Rao, J. et al. Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome. J Clin Invest 127, 4257-4269 (2017).
Naves, L. A. et al. Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome. Endocrine 51, 236-44 (2016).
Naves, L. A. et al. Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome. Endocrine 51, 236-44 (2016).
Ng, B. G. et al. ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Hum Mutat 37, 653-60 (2016).
Ng, B. G. et al. ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Hum Mutat 37, 653-60 (2016).
Morelli, K. H. et al. Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models. J Clin Invest 129, 5568-5583 (2019).
Seco, C. Zazo et al. Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2. Am J Hum Genet 97, 647-60 (2015).
Seco, C. Zazo et al. Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2. Am J Hum Genet 97, 647-60 (2015).
Dyment, D. A. et al. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Am J Med Genet A 185, 119-133 (2021).
Dyment, D. A. et al. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Am J Med Genet A 185, 119-133 (2021).
Dyment, D. A. et al. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Am J Med Genet A 185, 119-133 (2021).
Dyment, D. A. et al. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Am J Med Genet A 185, 119-133 (2021).
Gu, S. et al. Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3. Hum Mol Genet 24, 4061-77 (2015).
Boone, P. M. et al. The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles. Am J Hum Genet 95, 143-61 (2014).
Lessel, D. et al. Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations. Hum Genet 137, 921-939 (2018).
Lessel, D. et al. Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations. Hum Genet 137, 921-939 (2018).
Lessel, D. et al. Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations. Hum Genet 137, 921-939 (2018).
Di Donato, N. et al. Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. Genet Med 20, 1354-1364 (2018).
Pirruccello, J. P. et al. Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy. Nat Commun 11, 2254 (2020).
Pirruccello, J. P. et al. Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy. Nat Commun 11, 2254 (2020).
Hermle, T. et al. and Mutations Implicate RAB5 Regulation in Nephrotic Syndrome. J Am Soc Nephrol 29, 2123-2138 (2018).
Hermle, T. et al. and Mutations Implicate RAB5 Regulation in Nephrotic Syndrome. J Am Soc Nephrol 29, 2123-2138 (2018).

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