Lista de obras -

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

scientific journal article

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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

Autosomal dominant multiple pterygium syndrome is caused by mutations in MYH3

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2018

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

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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2010

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

Exome sequencing identifies the cause of a mendelian disorder

artículo científico publicado en 2010

Expanding the Molecular and Clinical Phenotype of SSR4-CDG.

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2018

Genetic counselors on the frontline of precision health.

artículo científico publicado en 2018

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

artículo científico publicado en 2015

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

artículo científico publicado en 2018

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2012

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

article

LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.

artículo científico publicado en 2016

MAT2A mutations predispose individuals to thoracic aortic aneurysms

artículo científico publicado en 2014

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

artículo científico publicado en 2020

Massively parallel sequencing and rare disease

artículo científico publicado en 2010

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

Mutation of ATF6 causes autosomal recessive achromatopsia

artículo científico publicado en 2015

Mutations in ECEL1 cause distal arthrogryposis type 5D

artículo científico publicado en 2012

Mutations in KCTD1 cause scalp-ear-nipple syndrome

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2019

Non-invasive fetal genome sequencing: opportunities and challenges

artículo científico publicado en 2012

Noninvasive whole-genome sequencing of a human fetus.

artículo científico publicado en 2012

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

artículo científico publicado en 2015

RNF213 rare variants in an ethnically diverse population with Moyamoya disease

artículo científico publicado en 2014

Rare A2ML1 variants confer susceptibility to otitis media

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

Redefining the Etiologic Landscape of Cerebellar Malformations

artículo científico publicado en 2019

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations

artículo científico publicado en 2010

Somatic mutations in cerebral cortical malformations

artículo científico publicado en 2014

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

artículo científico publicado en 2011

Targeted capture and massively parallel sequencing of 12 human exomes

artículo científico publicado en 2009

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

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 2012

Lista de obras de

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