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Clan genomics and the complex architecture of human disease. Cell 147, 32-43 (2011).
A fast and noise-resilient approach to detect rare-variant associations with deep sequencing data for complex disorders. Genet Epidemiol 36, 675-85 (2012).
A unified method for detecting secondary trait associations with rare variants: application to sequence data. PLoS Genet 8, e1003075 (2012).
Incidental copy-number variants identified by routine genome testing in a clinical population. Genet Med 15, 45-54 (2013).
Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. Am J Hum Genet 92, 468-74 (2013).
Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptional. JAMA 310, 365-6 (2013).
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).
Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy. J Clin Immunol 34, 871-90 (2014).
A form of the metabolic syndrome associated with mutations in DYRK1B. N Engl J Med 370, 1909-1919 (2014).
Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data. Am J Hum Genet 94, 33-46 (2014).
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. Am J Hum Genet 96, 841-9 (2015).
Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype. Cancer Discov 5, 135-42 (2015).
Challenges and solutions for gene identification in the presence of familial locus heterogeneity. Eur J Hum Genet 23, 1207-15 (2015).
Characterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic Syndrome. Clin J Am Soc Nephrol 10, 1011-9 (2015).
COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. Nat Genet 47, 654-60 (2015).
Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI. Am J Med Genet A 167A, 2132-7 (2015).
Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening. Nat Genet 47, 512-7 (2015).
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).
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. Elife 4, e06602 (2015).
GeneMatcher: a matching tool for connecting investigators with an interest in the same gene. Hum Mutat 36, 928-30 (2015).
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).
The Matchmaker Exchange: a platform for rare disease gene discovery. Hum Mutat 36, 915-21 (2015).
The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profiles. Hum Mutat 36, 922-7 (2015).
New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. JAMA Ophthalmol 133, 133-9 (2015).
Rare A2ML1 variants confer susceptibility to otitis media. Nat Genet 47, 917-20 (2015).
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. Nat Cell Biol 17, 1074-1087 (2015).
Structural variation mutagenesis of the human genome: Impact on disease and evolution. Environ Mol Mutagen 56, 419-36 (2015).
TBX6 null variants and a common hypomorphic allele in congenital scoliosis. N Engl J Med 372, 341-50 (2015).
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease. Hum Genet 135, 1399-1409 (2016).
Exome Sequencing Analysis in Severe, Early-Onset Chronic Obstructive Pulmonary Disease. Am J Respir Crit Care Med 193, 1353-63 (2016).
Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis. Fam Cancer 15, 281-8 (2016).
FOXE3 mutations predispose to thoracic aortic aneurysms and dissections. J Clin Invest 126, 948-61 (2016).
Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech. PLoS One 11, e0153864 (2016).
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).
A germline ERBB3 variant is a candidate for predisposition to erythroid MDS/erythroleukemia. Leukemia 30, 2242-2245 (2016).
Increasing Generality and Power of Rare-Variant Tests by Utilizing Extended Pedigrees. Am J Hum Genet 99, 846-859 (2016).
Mechanisms underlying structural variant formation in genomic disorders. Nat Rev Genet 17, 224-38 (2016).
Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med 18, 678-85 (2016).
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. J Med Genet 53, 608-15 (2016).
Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis. Genet Med 18, 1158-1162 (2016).
Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections. Clin Genet 89, 719-23 (2016).
PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive. Ann Neurol 80, 59-70 (2016).
The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. Genet Med 18, 443-51 (2016).
Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1-q35.3 susceptibility locus identified by whole-exome sequencing. Eur J Hum Genet 25, 73-78 (2016).
Whole-Exome Sequencing in Familial Parkinson Disease. JAMA Neurol 73, 68-75 (2016).
Biallelic mutations in IRF8 impair human NK cell maturation and function. J Clin Invest 127, 306-320 (2017).
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nat Genet 49, 1593-1601 (2017).
De novo mutations in HNRNPU result in a neurodevelopmental syndrome. Am J Med Genet A 173, 3003-3012 (2017).
Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases. Pediatr Nephrol 32, 2273-2282 (2017).
Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations. J Clin Res Pediatr Endocrinol 9, 95-100 (2017).