Publications

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2011
DE LA Vega, F. M., Bustamante, C. D. & Leal, S. M. GENOME-WIDE ASSOCIATION MAPPING AND RARE ALLELES: FROM POPULATION GENOMICS TO PERSONALIZED MEDICINE - Session Introduction. Pac Symp Biocomput 74-5 (2011).
2014
Kircher, M. et al. A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet 46, 310-5 (2014).
Campeau, P. M. et al. The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurol 13, 44-58 (2014).
de Kock, L. et al. Germ-line and somatic DICER1 mutations in pineoblastoma. Acta Neuropathol 128, 583-95 (2014).
Trivellin, G. et al. Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. N Engl J Med 371, 2363-74 (2014).
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).
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).
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).
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).
Chong, J. X. et al. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. Am J Hum Genet 97, 199-215 (2015).
Ott, J., Wang, J. & Leal, S. M. Genetic linkage analysis in the age of whole-genome sequencing. Nat Rev Genet 16, 275-84 (2015).
Lodish, M. B. et al. Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations. Eur J Endocrinol 172, 803-11 (2015).
Yuan, B. et al. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. J Clin Invest 125, 636-51 (2015).
2016
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).
Peter, B. et al. Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech. PLoS One 11, e0153864 (2016).
Kornilov, S. A. et al. Genome-Wide Association and Exome Sequencing Study of Language Disorder in an Isolated Population. Pediatrics 137, (2016).
Hanchard, N. A. et al. A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20. Hum Mol Genet 25, 2331-2341 (2016).
Petrovski, S. et al. Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. Am J Hum Genet 98, 1001-1010 (2016).
Braunstein, E. M. et al. A germline ERBB3 variant is a candidate for predisposition to erythroid MDS/erythroleukemia. Leukemia 30, 2242-2245 (2016).
Iacovazzo, D. et al. Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study. Acta Neuropathol Commun 4, 56 (2016).
Lim, Y. H. et al. GNA14 Somatic Mutation Causes Congenital and Sporadic Vascular Tumors by MAPK Activation. Am J Hum Genet 99, 443-50 (2016).
Ben-Salem, S. et al. Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings. Am J Med Genet A 170A, 156-61 (2016).
2017
Qiao, D. et al. Gene-based segregation method for identifying rare variants in family-based sequencing studies. Genet Epidemiol 41, 309-319 (2017).
Lopez-Rivera, E. et al. Genetic Drivers of Kidney Defects in the DiGeorge Syndrome. N Engl J Med 376, 742-754 (2017).
Agopian, A. J. et al. Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. Circ Cardiovasc Genet 10, e001449 (2017).
Wang, X. et al. Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. Nat Genet 49, 613-617 (2017).
2018
Moccia, A. et al. Genetic analysis of CHARGE syndrome identifies overlapping molecular biology. Genet Med 20, 1022-1029 (2018).
Chinn, I. K. et al. Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis. Blood 132, 89-100 (2018).
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).
Ulirsch, J. C. et al. The Genetic Landscape of Diamond-Blackfan Anemia. Am J Hum Genet 103, 930-947 (2018).
Bramswig, N. C. et al. Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies). Hum Genet 137, 753-768 (2018).
Yilmaz, S. et al. Genotype-phenotype investigation of 35 patients from 11 unrelated families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome. Mol Genet Genomic Med 6, 230-248 (2018).
2019
Li, A. H. et al. Genetic architecture of laterality defects revealed by whole exome sequencing. Eur J Hum Genet 27, 563-573 (2019).
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).
Ulirsch, J. C. et al. The Genetic Landscape of Diamond-Blackfan Anemia. Am J Hum Genet 104, 356 (2019).
Mohammadi, P. et al. Genetic regulatory variation in populations informs transcriptome analysis in rare disease. Science 366, 351-356 (2019).
Braun, D. A. et al. Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome. Nephrol Dial Transplant 34, 485-493 (2019).
Guo, H. et al. Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes. Genet Med 21, 1611-1620 (2019).
Wojcik, M. H. et al. Genome Sequencing Identifies the Pathogenic Variant Missed by Prior Testing in an Infant with Marfan Syndrome. J Pediatr 213, 235-240 (2019).
Pehlivan, D. et al. The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance. Am J Hum Genet 105, 132-150 (2019).
LaCroix, A. J. et al. GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome. Am J Hum Genet 104, 35-44 (2019).
Richard, E. M. et al. Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss. Hum Mutat 40, 53-72 (2019).
2020
Absalom, N. L. et al. Gain-of-function variants identified in vigabatrin-hypersensitive epileptic encephalopathies. Brain Commun 2, fcaa162 (2020).
Cowan, J. R. et al. Gain-of-Function Variants in Dilated Cardiomyopathy. Circ Genom Precis Med 13, e002892 (2020).
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).
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).
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).
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).
Darnell, R. B. The Genetic Control of Stoichiometry Underlying Autism. Annu Rev Neurosci 43, 509-533 (2020).
Rochtus, A. et al. Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort. Epilepsia 61, 249-258 (2020).

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