Lista de obras -

22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease

artículo científico publicado en 2017

<i>USP27X</i>variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms

artículo científico publicado en 2024

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases

scientific journal article

Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

scientific article published on 01 October 2020

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

artículo científico publicado en 2016

Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay

artículo científico publicado en 2021

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

artículo científico publicado en 2017

Comprehensive genomic analysis of patients with disorders of cerebral cortical development

artículo científico publicado en 2018

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

artículo científico publicado en 2017

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

artículo científico publicado en 2018

De novo variant in AMOTL1 in infant with cleft lip and palate, imperforate anus and dysmorphic features

scientific article published on 07 October 2020

De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features

scientific article published on 19 May 2020

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

Genomic disorders 20 years on-mechanisms for clinical manifestations

artículo científico publicado en 2017

Grandparental genotyping enhances exome variant interpretation

artículo científico publicado en 2020

Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features

artículo científico publicado en 2019

Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination

scientific article published on 24 July 2018

Homozygous null variant in CRADD, encoding an adaptor protein that mediates apoptosis, is associated with lissencephaly.

artículo científico publicado en 2017

Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay

artículo científico publicado en 2019

Homozygous variants in MAPRE2 and CDON in individual with skin folds, growth delay, retinal coloboma, and pyloric stenosis

artículo científico publicado en 2019

Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.

artículo científico publicado en 2016

Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis

article

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

artículo científico publicado en 2019

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

article

Lessons learned from additional research analyses of unsolved clinical exome cases

artículo científico publicado en 2017

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

Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome

artículo científico publicado en 2015

Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.

artículo científico publicado en 2016

POGZ truncating alleles cause syndromic intellectual disability.

artículo científico publicado en 2016

Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child

artículo científico publicado en 2020

Phenotypic expansion illuminates multilocus pathogenic variation.

artículo científico publicado en 2018

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

scientific article published on 30 January 2020

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

artículo científico publicado en 2016

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

artículo científico publicado en 2016

The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.

artículo científico publicado en 2015

Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome

artículo científico publicado en 2020

Lista de obras de

22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease

<i>USP27X</i>variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases

Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

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

Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

Comprehensive genomic analysis of patients with disorders of cerebral cortical development

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

De novo variant in AMOTL1 in infant with cleft lip and palate, imperforate anus and dysmorphic features

De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

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

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

Genomic disorders 20 years on-mechanisms for clinical manifestations

Grandparental genotyping enhances exome variant interpretation

Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features

Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination

Homozygous null variant in CRADD, encoding an adaptor protein that mediates apoptosis, is associated with lissencephaly.

Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay

Homozygous variants in MAPRE2 and CDON in individual with skin folds, growth delay, retinal coloboma, and pyloric stenosis

Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.

Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis

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

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

Lessons learned from additional research analyses of unsolved clinical exome cases

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

Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome

Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.

POGZ truncating alleles cause syndromic intellectual disability.

Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child

Phenotypic expansion illuminates multilocus pathogenic variation.

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.

Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome