Lista de obras -

Autism risk in offspring can be assessed through quantification of male sperm mosaicism

artículo científico publicado en 2019

Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability

scientific article published on 21 May 2020

Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition

artículo científico publicado en 2020

Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis

artículo científico publicado en 2018

Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation

scientific article published on 01 April 2019

Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome

artículo científico publicado en 2020

Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly

artículo científico publicado en 2020

Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.

artículo científico publicado en 2018

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

artículo científico publicado en 2021

Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism

artículo científico publicado en 2020

MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

artículo científico publicado en 2020

Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families

artículo científico publicado en 2020

Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance

artículo científico publicado en 2021

Pathogenic ARH3 mutations result in ADP-ribose chromatin scars during DNA strand break repair

artículo científico publicado en 2020

Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly

scientific article published on 05 October 2019

The Neurobiology of Modern Viral Scourges: ZIKV and COVID-19

artículo científico publicado en 2021

Lista de obras de

Autism risk in offspring can be assessed through quantification of male sperm mosaicism

Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability

Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition

Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis

Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation

Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome

Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly

Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism

MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families

Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance

Pathogenic ARH3 mutations result in ADP-ribose chromatin scars during DNA strand break repair

Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly

The Neurobiology of Modern Viral Scourges: ZIKV and COVID-19