Lista de obras -

Analysis of shared heritability in common disorders of the brain

artículo científico publicado en 2018

Autosomal recessive <i>SLC30A9</i> variants in a proband with a cerebrorenal syndrome and no parental consanguinity

artículo científico publicado en 2022

Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study

artículo científico publicado en 2014

Evaluating possible maternal effect lethality and genetic background effects in Naa10 knockout mice

artículo científico publicado en 2024

Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications

artículo científico publicado en 2011

Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder

artículo científico publicado en 2011

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

artículo científico publicado en 2022

Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress ⬇️

artículo científico publicado el 26 de julio de 2012

Indel variant analysis of short-read sequencing data with Scalpel.

artículo científico publicado en 2016

Interrogating the Genetic Determinants of Tourette's Syndrome and Other Tic Disorders Through Genome-Wide Association Studies

artículo científico publicado en 2019

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing.

artículo científico publicado en 2013

Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiency.

artículo científico publicado en 2011

Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity

scientific article published on 23 October 2019

NAA10-related syndrome.

artículo científico publicado en 2018

PEDIA: prioritization of exome data by image analysis

artículo científico publicado en 2019

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

scientific article published on 27 June 2019

Proteomic and genomic characterization of a yeast model for Ogden syndrome.

scientific article published on 26 September 2016

Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome

artículo científico publicado en 2017

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

artículo científico publicado en 2018

Using VAAST to Identify an X-linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency.

artículo científico publicado en 2011

Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency

artículo científico publicado en 2011

VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation

scientific article published on 13 December 2019

Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement

artículo científico publicado en 2013

Whole-genome sequencing in an autism multiplex family

artículo científico publicado en 2013

Lista de obras de

Analysis of shared heritability in common disorders of the brain

Autosomal recessive <i>SLC30A9</i> variants in a proband with a cerebrorenal syndrome and no parental consanguinity

Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study

Evaluating possible maternal effect lethality and genetic background effects in Naa10 knockout mice

Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications

Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress ⬇️

Indel variant analysis of short-read sequencing data with Scalpel.

Interrogating the Genetic Determinants of Tourette's Syndrome and Other Tic Disorders Through Genome-Wide Association Studies

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing.

Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiency.

Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity

NAA10-related syndrome.

PEDIA: prioritization of exome data by image analysis

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

Proteomic and genomic characterization of a yeast model for Ogden syndrome.

Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome

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

Using VAAST to Identify an X-linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency.

Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency

VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation

Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement

Whole-genome sequencing in an autism multiplex family