Lista de obras -

A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease

artículo científico publicado en 2020

A framework for an evidence-based gene list relevant to autism spectrum disorder

artículo científico publicado en 2020

An estimation of the prevalence of genomic disorders using chromosomal microarray data

scientific article published on 24 April 2018

Assessment of Cognitive Outcome Measures in Teenagers with 15q13.3 Microdeletion Syndrome

artículo científico publicado en 2016

Assigning evidence to actionability: An introduction to variant interpretation in precision cancer medicine

artículo científico publicado en 2021

CHRNA7 copy number gains are enriched in adolescents with major depressive and anxiety disorders

artículo científico publicado en 2018

Chronic intestinal pseudo-obstruction syndrome and gastrointestinal malrotation in an infantwith schaaf-yang syndrome - Expanding the phenotypic spectrum.

artículo científico publicado en 2018

Copy Number and SNP Arrays in Clinical Diagnostics ⬇️

artículo científico publicado el 1 de enero de 2011

De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability

artículo científico publicado en 2016

Desmosterolosis—phenotypic and molecular characterization of a third case and review of the literature ⬇️

artículo científico publicado el 10 de junio de 2011

Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.

artículo científico publicado en 2017

Facebook Support Groups for Rare Pediatric Diseases: Quantitative Analysis

artículo científico publicado en 2020

Germline testing for homologous recombination repair genes - opportunities and challenges

artículo científico publicado en 2020

Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage–fusion–bridge for telomere stabilization ⬇️

artículo científico publicado el 14 de agosto de 2012

Identification of incestuous parental relationships by SNP-based DNA microarrays ⬇️

artículo científico publicado el 12 de febrero de 2011

Magel2 knockout mice manifest altered social phenotypes and a deficit in preference for social novelty.

artículo científico publicado en 2017

Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novo NR2F1 gene mutation.

artículo científico publicado en 2018

Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome

artículo científico publicado en 2017

Mutations in ASH1L confer susceptibility to Tourette syndrome

scientific article published on 31 October 2019

NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits

artículo científico publicado en 2013

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

artículo científico publicado en 2019

Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations

scientific article published on 10 April 2020

Quantitative real-time imaging of glutathione

artículo científico publicado en 2017

Response to Briuglia et al

scientific article published on 05 October 2020

Schaaf-Yang syndrome overview: Report of 78 individuals

artículo científico publicado en 2018

The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications

artículo científico publicado en 2016

The Genetics of Autism Spectrum Disorders – A Guide for Clinicians ⬇️

artículo científico publicado el 1 de enero de 2013

The complex behavioral phenotype of 15q13.3 microdeletion syndrome.

artículo científico publicado en 2016

The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations

artículo científico publicado en 2016

The human clinical phenotypes of altered CHRNA7 copy number

artículo científico publicado en 2015

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

artículo científico publicado en 2016

Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia

scientific article published on 25 November 2019

Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approach

artículo científico publicado en 2019

mTOR and autophagy pathways are dysregulated in murine and human models of Schaaf-Yang syndrome

scientific article published on 04 November 2019

Lista de obras de

A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease

A framework for an evidence-based gene list relevant to autism spectrum disorder

An estimation of the prevalence of genomic disorders using chromosomal microarray data

Assessment of Cognitive Outcome Measures in Teenagers with 15q13.3 Microdeletion Syndrome

Assigning evidence to actionability: An introduction to variant interpretation in precision cancer medicine

CHRNA7 copy number gains are enriched in adolescents with major depressive and anxiety disorders

Chronic intestinal pseudo-obstruction syndrome and gastrointestinal malrotation in an infantwith schaaf-yang syndrome - Expanding the phenotypic spectrum.

Copy Number and SNP Arrays in Clinical Diagnostics ⬇️

De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability

Desmosterolosis—phenotypic and molecular characterization of a third case and review of the literature ⬇️

Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.

Facebook Support Groups for Rare Pediatric Diseases: Quantitative Analysis

Germline testing for homologous recombination repair genes - opportunities and challenges

Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage–fusion–bridge for telomere stabilization ⬇️

Identification of incestuous parental relationships by SNP-based DNA microarrays ⬇️

Magel2 knockout mice manifest altered social phenotypes and a deficit in preference for social novelty.

Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novo NR2F1 gene mutation.

Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome

Mutations in ASH1L confer susceptibility to Tourette syndrome

NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations

Quantitative real-time imaging of glutathione

Response to Briuglia et al

Schaaf-Yang syndrome overview: Report of 78 individuals

The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications

The Genetics of Autism Spectrum Disorders – A Guide for Clinicians ⬇️

The complex behavioral phenotype of 15q13.3 microdeletion syndrome.

The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations

The human clinical phenotypes of altered CHRNA7 copy number

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia

Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approach

mTOR and autophagy pathways are dysregulated in murine and human models of Schaaf-Yang syndrome