List of works - Michael J Bamshad

A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair

scientific article

A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex

scientific article

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

scientific journal article

Actionable, pathogenic incidental findings in 1,000 participants' exomes

scientific article published on 19 September 2013

Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.

scientific article

Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish

scientific article

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

scientific article published on 28 November 2012

Autosomal dominant multiple pterygium syndrome is caused by mutations in MYH3

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

scientific article

Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2

scientific article published on 19 January 2016

Challenges and solutions for gene identification in the presence of familial locus heterogeneity

scientific article

Correction: Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1

article

DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients

scientific article published on 17 August 2018

De novo Mutations in NALCN Cause a Syndrome of Congenital Contractures of the Limbs and Face with Hypotonia, and Developmental Delay

scholarly preprint article

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

scientific article published on 14 November 2019

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay

scientific article

De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders

scientific article published on 10 December 2018

Dominant-negative SOX9 mutations in campomelic dysplasia

scientific article published on 26 August 2019

Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1

Erratum: Corrigendum: Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

scientific article published in Nature

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

scientific article

Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia

scientific article

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

scientific article

Exome sequencing identifies the cause of a mendelian disorder

scientific article

Expanding the Molecular and Clinical Phenotype of SSR4-CDG.

scientific article

Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.

scientific article published on 25 October 2017

Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability

scientific article published on 23 December 2015

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

scientific article published on 19 May 2020

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome

scientific article published on 13 December 2018

Genetic counselors on the frontline of precision health.

scientific article published on 26 March 2018

Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA.

scientific article

Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes

scientific article published on 03 December 2018

Global diversity, population stratification, and selection of human copy-number variation

scientific article

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss

article

Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project

scientific article

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome

scientific article

Insights into genetics, human biology and disease gleaned from family based genomic studies

article

LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.

scientific article published on 12 January 2016

MAT2A mutations predispose individuals to thoracic aortic aneurysms

scientific article

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

scientific article published on 01 January 2020

Massively parallel sequencing and rare disease

scientific article

Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP.

scientific article published on 16 February 2016

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation

scientific article published on April 2013

Mutation of ATF6 causes autosomal recessive achromatopsia

scientific article published on 11 June 2015

Mutations in ECEL1 cause distal arthrogryposis type 5D

scientific article

Mutations in KCTD1 cause scalp-ear-nipple syndrome

scientific article

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

scientific article

Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype

scientific article published on March 2014

Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms

scientific article published on 19 September 2013

Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.

scientific article published on January 2014

Mutations in the translocon-associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation

scientific article published on 16 April 2019

Non-invasive fetal genome sequencing: opportunities and challenges

scientific article published on 10 August 2012

Noninvasive whole-genome sequencing of a human fetus.

scientific article

Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis

scientific article

RNF213 rare variants in an ethnically diverse population with Moyamoya disease

scientific article published on 2 October 2014

Rare A2ML1 variants confer susceptibility to otitis media

scientific article

Rare variant associations with waist-to-hip ratio in European-American and African-American women from the NHLBI-Exome Sequencing Project

scientific article published on 13 January 2016

Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections

scientific article published on August 2013

Redefining the Etiologic Landscape of Cerebellar Malformations

scientific article published on 29 August 2019

SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features. ⬇️

scientific article

Sequencing of sporadic Attention-Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum disorder

scientific article

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations

scientific article

Somatic mutations in cerebral cortical malformations

scientific article

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

scientific article

Targeted capture and massively parallel sequencing of 12 human exomes

scientific article

The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions.

scientific article published on 24 May 2012

The Simons Genome Diversity Project: 300 genomes from 142 diverse populations

scientific article

Toll-like receptor polymorphism associations with HIV-1 outcomes among sub-Saharan Africans

scientific article published on 10 December 2013

Variants in host viral replication cycle genes are associated with heterosexual HIV-1 acquisition in Africans

scientific article

Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1.

scientific article published on 6 November 2017

Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia

scientific article

List of works by Michael J Bamshad

A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair

A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

Actionable, pathogenic incidental findings in 1,000 participants' exomes

Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.

Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

Autosomal dominant multiple pterygium syndrome is caused by mutations in MYH3

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2

Challenges and solutions for gene identification in the presence of familial locus heterogeneity

Correction: Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1

DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients

De novo Mutations in NALCN Cause a Syndrome of Congenital Contractures of the Limbs and Face with Hypotonia, and Developmental Delay

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay

De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders

Dominant-negative SOX9 mutations in campomelic dysplasia

Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1

Erratum: Corrigendum: Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

Exome sequencing identifies the cause of a mendelian disorder

Expanding the Molecular and Clinical Phenotype of SSR4-CDG.

Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.

Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome

Genetic counselors on the frontline of precision health.

Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA.

Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes

Global diversity, population stratification, and selection of human copy-number variation

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss

Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome

Insights into genetics, human biology and disease gleaned from family based genomic studies

LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.

MAT2A mutations predispose individuals to thoracic aortic aneurysms

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

Massively parallel sequencing and rare disease

Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP.

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation

Mutation of ATF6 causes autosomal recessive achromatopsia

Mutations in ECEL1 cause distal arthrogryposis type 5D

Mutations in KCTD1 cause scalp-ear-nipple syndrome

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype

Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms

Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.

Mutations in the translocon-associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation

Non-invasive fetal genome sequencing: opportunities and challenges

Noninvasive whole-genome sequencing of a human fetus.

Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis

RNF213 rare variants in an ethnically diverse population with Moyamoya disease

Rare A2ML1 variants confer susceptibility to otitis media

Rare variant associations with waist-to-hip ratio in European-American and African-American women from the NHLBI-Exome Sequencing Project

Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections

Redefining the Etiologic Landscape of Cerebellar Malformations

SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features. ⬇️

Sequencing of sporadic Attention-Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum disorder

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations

Somatic mutations in cerebral cortical malformations

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

Targeted capture and massively parallel sequencing of 12 human exomes

The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions.

The Simons Genome Diversity Project: 300 genomes from 142 diverse populations

Toll-like receptor polymorphism associations with HIV-1 outcomes among sub-Saharan Africans

Variants in host viral replication cycle genes are associated with heterosexual HIV-1 acquisition in Africans

Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1.

Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia