Lista de obras -

Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2.

artículo científico publicado en 2015

Binding interface change and cryptic variation in the evolution of protein-protein interactions.

artículo científico publicado en 2016

Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome

artículo científico publicado en 2014

DMRTA2 (DMRT5) is mutated in a novel cortical brain malformation.

artículo científico publicado en 2016

Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome.

artículo científico publicado en 2015

Evolvability of Yeast Protein–Protein Interaction Interfaces

scientific article published on 01 April 2012

Expanding the genotypic spectrum of Perrault syndrome.

artículo científico publicado en 2016

Exploring the genetic basis of 3MC syndrome: Findings in 12 further families.

artículo científico publicado en 2016

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

artículo científico publicado en 2014

Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations

artículo científico publicado en 2014

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6 ⬇️

artículo científico publicado en 2015

Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy.

artículo científico publicado en 2017

Induced pluripotent stem cell modelling of HLHS underlines the contribution of dysfunctional NOTCH signalling to impaired cardiogenesis

artículo científico publicado en 2017

Molecular findings from 537 individuals with inherited retinal disease.

artículo científico publicado en 2016

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

artículo científico publicado en 2014

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

artículo científico publicado en 2016

Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract

artículo científico

ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.

artículo científico publicado en 2017

Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome

artículo científico publicado en 2015

Promoter interactome of human embryonic stem cell-derived cardiomyocytes connects GWAS regions to cardiac gene networks.

artículo científico publicado en 2018

The effect of sequence evolution on protein structural divergence.

artículo científico publicado en 2009

Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes.

artículo científico publicado en 2015

Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

artículo científico publicado en 2016

Lista de obras de

Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2.

Binding interface change and cryptic variation in the evolution of protein-protein interactions.

Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome

DMRTA2 (DMRT5) is mutated in a novel cortical brain malformation.

Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome.

Evolvability of Yeast Protein–Protein Interaction Interfaces

Expanding the genotypic spectrum of Perrault syndrome.

Exploring the genetic basis of 3MC syndrome: Findings in 12 further families.

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6 ⬇️

Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy.

Induced pluripotent stem cell modelling of HLHS underlines the contribution of dysfunctional NOTCH signalling to impaired cardiogenesis

Molecular findings from 537 individuals with inherited retinal disease.

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract

ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.

Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome

Promoter interactome of human embryonic stem cell-derived cardiomyocytes connects GWAS regions to cardiac gene networks.

The effect of sequence evolution on protein structural divergence.

Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes.

Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.