Lista de obras -

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

artículo científico publicado en 2017

A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency

artículo científico publicado en 2019

A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy

artículo científico publicado en 2018

An Organismal CNV Mutator Phenotype Restricted to Early Human Development

artículo científico publicado en 2017

Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.

artículo científico publicado en 2016

Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders

scientific article published on 17 October 2019

Biallelic Pathogenic Variants in <i>TNNT3</i> Associated With Congenital Myopathy

artículo científico publicado en 2021

Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities

artículo científico publicado en 2019

Biallelic mutations in IRF8 impair human NK cell maturation and function ⬇️

artículo científico publicado en 2016

Centers for Mendelian Genomics: A decade of facilitating gene discovery

artículo científico publicado en 2022

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

artículo científico publicado en 2017

Cover

artículo científico publicado en 2020

Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform

artículo científico publicado en 2020

Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.

artículo científico publicado en 2015

Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate

artículo científico publicado en 2016

Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis

artículo científico publicado en 2015

First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis

scientific article published on 10 February 2017

Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide

scientific article published on 06 May 2020

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

artículo científico publicado en 2015

Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1

scientific article published on 27 November 2019

Genetic architecture of laterality defects revealed by whole exome sequencing

artículo científico publicado en 2019

HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease

scientific article published on 01 July 2020

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort

artículo científico publicado en 2016

Human NK cell deficiency as a result of biallelic mutations in MCM10

scientific article published on 31 August 2020

Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease

scientific article published on 28 July 2020

Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome

artículo científico publicado en 2019

Lessons learned from additional research analyses of unsolved clinical exome cases

artículo científico publicado en 2017

Mechanisms for Complex Chromosomal Insertions.

artículo científico publicado en 2016

Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

artículo científico publicado en 2016

Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy

artículo científico publicado en 2016

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

scientific article published on 27 June 2019

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders

artículo científico publicado en 2017

Phenotypic expansion illuminates multilocus pathogenic variation.

artículo científico publicado en 2018

Phenotypic expansion in - a common cause of intellectual disability in females

artículo científico publicado en 2018

Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome)

scientific article published on 29 November 2019

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

artículo científico publicado en 2016

REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.

artículo científico publicado en 2017

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy

artículo científico publicado en 2019

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

scientific article published on 20 June 2019

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease

artículo científico publicado en 2018

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

artículo científico publicado en 2018

Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation

scientific article published on 31 March 2020

Lista de obras de

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency

A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy

An Organismal CNV Mutator Phenotype Restricted to Early Human Development

Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.

Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders

Biallelic Pathogenic Variants in <i>TNNT3</i> Associated With Congenital Myopathy

Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities

Biallelic mutations in IRF8 impair human NK cell maturation and function ⬇️

Centers for Mendelian Genomics: A decade of facilitating gene discovery

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

Cover

Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform

Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.

Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate

Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis

First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis

Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1

Genetic architecture of laterality defects revealed by whole exome sequencing

HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort

Human NK cell deficiency as a result of biallelic mutations in MCM10

Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease

Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome

Lessons learned from additional research analyses of unsolved clinical exome cases

Mechanisms for Complex Chromosomal Insertions.

Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders

Phenotypic expansion illuminates multilocus pathogenic variation.

Phenotypic expansion in - a common cause of intellectual disability in females

Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome)

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation