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2019
Wang, L. et al. metaFARVAT: An Efficient Tool for Meta-Analysis of Family-Based, Case-Control, and Population-Based Rare Variant Association Studies. Front Genet 10, 572 (2019).
Wang, L. et al. metaFARVAT: An Efficient Tool for Meta-Analysis of Family-Based, Case-Control, and Population-Based Rare Variant Association Studies. Front Genet 10, 572 (2019).
Cogné, B. et al. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. Am J Hum Genet 104, 530-541 (2019).
Cogné, B. et al. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. Am J Hum Genet 104, 530-541 (2019).
Cogné, B. et al. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. Am J Hum Genet 104, 530-541 (2019).
Cogné, B. et al. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. Am J Hum Genet 104, 530-541 (2019).
Cogné, B. et al. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. Am J Hum Genet 104, 530-541 (2019).
Cogné, B. et al. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. Am J Hum Genet 104, 530-541 (2019).
Cogné, B. et al. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. Am J Hum Genet 104, 530-541 (2019).
Cogné, B. et al. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. Am J Hum Genet 104, 530-541 (2019).
Cogné, B. et al. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. Am J Hum Genet 104, 530-541 (2019).
Connaughton, D. M. et al. Monogenic causes of chronic kidney disease in adults. Kidney Int 95, 914-928 (2019).
Connaughton, D. M. et al. Monogenic causes of chronic kidney disease in adults. Kidney Int 95, 914-928 (2019).
Connaughton, D. M. et al. Monogenic causes of chronic kidney disease in adults. Kidney Int 95, 914-928 (2019).
Connaughton, D. M. et al. Monogenic causes of chronic kidney disease in adults. Kidney Int 95, 914-928 (2019).
Donkervoort, S. et al. MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement. Acta Neuropathol 138, 1013-1031 (2019).
Donkervoort, S. et al. MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement. Acta Neuropathol 138, 1013-1031 (2019).
Timberlake, A. T. et al. Mutations in and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis. Proc Natl Acad Sci U S A 116, 15116-15121 (2019).
Timberlake, A. T. et al. Mutations in and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis. Proc Natl Acad Sci U S A 116, 15116-15121 (2019).
Timberlake, A. T. et al. Mutations in and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis. Proc Natl Acad Sci U S A 116, 15116-15121 (2019).
Link, N. et al. Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly. Dev Cell 51, 713-729.e6 (2019).
Link, N. et al. Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly. Dev Cell 51, 713-729.e6 (2019).
Cox, T. C. et al. Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans. Hum Mutat 40, 1813-1825 (2019).
Cox, T. C. et al. Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans. Hum Mutat 40, 1813-1825 (2019).
Cox, T. C. et al. Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans. Hum Mutat 40, 1813-1825 (2019).
Duchatelet, S. et al. Mutations in PERP Cause Dominant and Recessive Keratoderma. J Invest Dermatol 139, 380-390 (2019).
Duchatelet, S. et al. Mutations in PERP Cause Dominant and Recessive Keratoderma. J Invest Dermatol 139, 380-390 (2019).
Aird, A. et al. Novel Heterozygous Mutation in Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome. Front Pediatr 7, 303 (2019).
Aird, A. et al. Novel Heterozygous Mutation in Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome. Front Pediatr 7, 303 (2019).
Schulze, K. V. et al. Novel parent-of-origin-specific differentially methylated loci on chromosome 16. Clin Epigenetics 11, 60 (2019).
Schulze, K. V. et al. Novel parent-of-origin-specific differentially methylated loci on chromosome 16. Clin Epigenetics 11, 60 (2019).
Schulze, K. V. et al. Novel parent-of-origin-specific differentially methylated loci on chromosome 16. Clin Epigenetics 11, 60 (2019).
Kaplan, K., McCool, C., Lupski, J. R., Glaze, D. & Potocki, L. Objective measures of sleep disturbances in children with Potocki-Lupski syndrome. Am J Med Genet A 179, 1982-1986 (2019).
Paine, I. et al. Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet 105, 302-316 (2019).
Paine, I. et al. Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet 105, 302-316 (2019).
Paine, I. et al. Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet 105, 302-316 (2019).
Bryen, S. J. et al. Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly. Am J Hum Genet 105, 573-587 (2019).
Bryen, S. J. et al. Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly. Am J Hum Genet 105, 573-587 (2019).
Amor, D. J. et al. Pathogenic Variants in GPC4 Cause Keipert Syndrome. Am J Hum Genet 104, 914-924 (2019).
Amor, D. J. et al. Pathogenic Variants in GPC4 Cause Keipert Syndrome. Am J Hum Genet 104, 914-924 (2019).
Amor, D. J. et al. Pathogenic Variants in GPC4 Cause Keipert Syndrome. Am J Hum Genet 104, 914-924 (2019).
Oswiecimska, J. et al. A Patient with Berardinelli-Seip Syndrome, Novel Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy. J Clin Res Pediatr Endocrinol 11, 319-326 (2019).
Davis, S. D. et al. Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype. Am J Respir Crit Care Med 199, 190-198 (2019).
Davis, S. D. et al. Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype. Am J Respir Crit Care Med 199, 190-198 (2019).
Liu, P. et al. Reanalysis of Clinical Exome Sequencing Data. N Engl J Med 380, 2478-2480 (2019).
Liu, P. et al. Reanalysis of Clinical Exome Sequencing Data. N Engl J Med 380, 2478-2480 (2019).
Liu, P. et al. Reanalysis of Clinical Exome Sequencing Data. N Engl J Med 380, 2478-2480 (2019).
Liu, P. et al. Reanalysis of Clinical Exome Sequencing Data. N Engl J Med 380, 2478-2480 (2019).
Estañ, M. Cristina et al. Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy. Nat Commun 10, 797 (2019).
Estañ, M. Cristina et al. Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy. Nat Commun 10, 797 (2019).

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