Lista de obras -

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2

scientific journal article

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

scientific article published on 17 October 2019

Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability ⬇️

artículo científico publicado en 2015

COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis

artículo científico publicado en 2015

DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome

artículo científico publicado en 2015

DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome

artículo científico publicado en 2016

Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins

artículo científico publicado en 2017

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

Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome

artículo científico publicado en 2014

Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

article

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

artículo científico publicado en 2019

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

artículo científico publicado en 2016

NR2F1 mutations cause optic atrophy with intellectual disability.

artículo científico publicado en 2014

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

scientific article published on 29 November 2019

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

artículo científico publicado en 2017

Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome.

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2019

TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model

scientific article published on 14 January 2019

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

scientific article published on 20 June 2019

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome

artículo científico publicado en 2017

Lista de obras de

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2

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

Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability ⬇️

COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis

DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome

DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome

Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins

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

Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome

Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

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

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

NR2F1 mutations cause optic atrophy with intellectual disability.

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

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

Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome.

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

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

TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model

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

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome