Publications
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[ Author] Title Year Filters: Keyword is Sequence Analysis, DNA [Clear All Filters]
Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing. J Allergy Clin Immunol 138, 1142-1151.e2 (2016).
Attitudes of African Americans toward return of results from exome and whole genome sequencing. Am J Med Genet A 161A, 1064-72 (2013).
Attitudes of non-African American focus group participants toward return of results from exome and whole genome sequencing. Am J Med Genet A 164A, 2153-60 (2014).
Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia. J Med Genet 51, 197-202 (2014).
Identification of Rare Variants in Metabolites of the Carnitine Pathway by Whole Genome Sequencing Analysis. Genet Epidemiol 40, 486-91 (2016).
Molecular findings among patients referred for clinical whole-exome sequencing. JAMA 312, 1870-9 (2014).
TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. Am J Hum Genet 93, 197-210 (2013).
DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. Am J Hum Genet 98, 553-561 (2016).
DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. Am J Hum Genet 96, 612-22 (2015).
Discovery and population genomics of structural variation in a songbird genus. Nat Commun 11, 3403 (2020).
Collapsed haplotype pattern method for linkage analysis of next-generation sequence data. Eur J Hum Genet 23, 1739-43 (2015).
Power analysis and sample size estimation for sequence-based association studies. Bioinformatics 30, 2377-8 (2014).
Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing. Eur J Hum Genet 25, 1246-1252 (2017).
Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development. Am J Hum Genet 97, 291-301 (2015).
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. Am J Hum Genet 101, 23-36 (2017).
De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis. Proc Natl Acad Sci U S A 114, E7341-E7347 (2017).
Two locus inheritance of non-syndromic midline craniosynostosis via rare and common alleles. Elife 5, (2016).
An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome. Hum Mol Genet 25, 3998-4011 (2016).
Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss. Am J Hum Genet 97, 457-64 (2015).
Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease. Mol Genet Metab 115, 161-7 (2015).
PRIMUS: rapid reconstruction of pedigrees from genome-wide estimates of identity by descent. Am J Hum Genet 95, 553-64 (2014).
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).
Rapid, Paralog-Sensitive CNV Analysis of 2457 Human Genomes Using QuicK-mer2. Genes (Basel) 11, (2020).
Efficient phasing and imputation of low-coverage sequencing data using large reference panels. Nat Genet 53, 120-126 (2021).
Association Between Absolute Neutrophil Count and Variation at TCIRG1: The NHLBI Exome Sequencing Project. Genet Epidemiol 40, 470-4 (2016).
Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation. Nat Genet 46, 1135-1139 (2014).
Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. Am J Hum Genet 94, 144-52 (2014).
Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections. Clin Genet 89, 719-23 (2016).
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. J Hum Genet 62, 243-252 (2017).
Gene-based segregation method for identifying rare variants in family-based sequencing studies. Genet Epidemiol 41, 309-319 (2017).
Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. Eur J Med Genet 57, 339-344 (2014).
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med 376, 21-31 (2017).
Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D. Genet Med 16, 386-394 (2014).
Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis. Genet Med 18, 1158-1162 (2016).
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science 343, 506-511 (2014).
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Hum Mutat 37, 653-60 (2016).
Diagnosis of Chronic Intestinal Pseudo-obstruction and Megacystis by Sequencing the ACTG2 Gene. J Pediatr Gastroenterol Nutr 65, 384-387 (2017).
Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion. Am J Med Genet A 164A, 1170-4 (2014).