Michael J. Bamshad
University of Washington
ExomeExome sequencingMutationGeneticsBiology
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Publications 339
#1Jessica X. Chong (UW: University of Washington)H-Index: 19
#2Jared C. Talbot (OSU: Ohio State University)H-Index: 6
view all 31 authors...
We identified ten persons in six consanguineous families with Distal Arthrogryposis (DA) who had congenital contractures, scoliosis, and short stature. Exome sequencing revealed that each affected person was homozygous for one of two different rare variants (c.470G>T, p.(Cys157Phe) or c.469T>C, p.(Cys157Arg)) affecting the same residue of myosin light chain, phosphorylatable, fast skeletal muscle (MYLPF). In a seventh family, a c.487G>A, p.(Gly163Ser) variant in MYLPF arose de novo in a father, ...
#1William D. Dupont (VUMC: Vanderbilt University Medical Center)H-Index: 61
#2Joan P Breyer (VUMC: Vanderbilt University Medical Center)
Last. Jeffrey R Smith (VUMC: Vanderbilt University Medical Center)
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The 8q24 genomic locus is tied to the origin of numerous cancers. We investigate its contribution to hereditary prostate cancer (HPC) in independent study populations of the Nashville Familial Prostate Cancer Study and International Consortium for Prostate Cancer Genetics (combined: 2,836 HPC cases, 2,206 controls of European ancestry). Here we report 433 variants concordantly associated with HPC in both study populations, accounting for 9% of heritability and modifying age of diagnosis as well ...
#1Dongxue Mao (BCM: Baylor College of Medicine)H-Index: 2
#2Chloe M. Reuter (Stanford University)H-Index: 7
Last. Matthew T. Wheeler (Stanford University)H-Index: 30
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EIF2AK1 and EIF2AK2 encode members of the eukaryotic translation initiation factor 2 alpha kinase (EIF2AK) family that inhibits protein synthesis in response to physiologic stress conditions. EIF2AK2 is also involved in innate immune response and the regulation of signal transduction, apoptosis, cell proliferation, and differentiation. Despite these findings, human disorders associated with deleterious variants in EIF2AK1 and EIF2AK2 have not been reported. Here, we describe the identification o...
1 CitationsSource
#1Amélie PinardH-Index: 2
Last. Chaker AlouiH-Index: 1
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Introduction: Moyamoya disease (MMD) is a cerebrovascular disease often causing pediatric onset strokes and characterized by progressive bilateral occlusion of the distal internal carotid arteries ...
#1Ghayda M. Mirzaa (Seattle Children's Research Institute)H-Index: 20
#2Jessica X. Chong (UW: University of Washington)H-Index: 19
Last. Michael J. Bamshad (UW: University of Washington)H-Index: 75
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Intellectual disability (ID) and autism spectrum disorder (ASD) are genetically heterogeneous neurodevelopmental disorders. We sought to delineate the clinical, molecular, and neuroimaging spectrum of a novel neurodevelopmental disorder caused by variants in the zinc finger protein 292 gene (ZNF292). We ascertained a cohort of 28 families with ID due to putatively pathogenic ZNF292 variants that were identified via targeted and exome sequencing. Available data were analyzed to characterize the c...
1 CitationsSource
#1Lynn B. Jorde (UofU: University of Utah)H-Index: 81
#2Michael J. Bamshad (UW: University of Washington)H-Index: 75
#1Amélie Pinard (University of Texas Health Science Center at Houston)H-Index: 2
#2Stéphanie Guey (Paris Diderot University)H-Index: 5
Last. Dianna M. Milewicz (University of Texas Health Science Center at Houston)H-Index: 58
view all 18 authors...
Moyamoya angiopathy (MMA) is a cerebrovascular disease characterized by occlusion of large arteries, which leads to strokes starting in childhood. Twelve altered genes predispose to MMA but the majority of cases of European descent do not have an identified genetic trigger. Exome sequencing from 39 trios were analyzed. We identified four de novo variants in three genes not previously associated with MMA: CHD4, CNOT3, and SETD5. Identification of additional rare variants in these genes in 158 unr...
1 CitationsSource
#1Christopher C. Y. Mak (HKU: University of Hong Kong)H-Index: 4
#2Dan Doherty (Seattle Children's Research Institute)H-Index: 29
Last. Christopher T. Gordon (Paris V: Paris Descartes University)H-Index: 20
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MN1 encodes a transcriptional co-regulator without homology to other proteins, previously implicated in acute myeloid leukaemia and development of the palate. Large deletions encompassing MN1 have been reported in individuals with variable neurodevelopmental anomalies and non-specific facial features. We identified a cluster of de novo truncating mutations in MN1 in a cohort of 23 individuals with strikingly similar dysmorphic facial features, especially midface hypoplasia, and intellectual disa...
#1Caio DaviH-Index: 1
Last. Bartolomeu Acioli-Santos (FIOCRUZ: Oswaldo Cruz Foundation)H-Index: 3
view all 9 authors...
Dengue has become one of the most important worldwide arthropodborne diseases around the world. Here, one hundred and two Brazilian dengue virus (DENV) III patients and controls were genotyped for 322 innate immunity gene loci. All biological data (including age, sex and genome background) were analyzed using Machine Learning techniques to discriminate tendency to severe dengue phenotype development. Our current approach produces median values for accuracy greater than 86%, with sensitivity and ...
1 CitationsSource