Lista de obras -

A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.

artículo científico publicado en 2008

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

artículo científico publicado en 2006

A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss

scientific article published on 10 August 2012

Analysis of novel missense ATR mutations reveals new splicing defects underlying Seckel syndrome

scientific article published on 24 September 2018

Biallelic variants in DNA2 cause microcephalic primordial dwarfism

artículo científico publicado en 2019

Biallelic variants in SLC35C1 as a cause of isolated short stature with intellectual disability

scientific article published on 21 April 2020

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

artículo científico publicado en 2011

Cerebral organoids model human brain development and microcephaly

artículo científico publicado en 2013

Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

Corrigendum: Mutations in genes encoding condensins cause microcephaly through decatenation failure at mitosis

artículo científico publicado en 2017

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

artículo científico publicado en 2018

Defective removal of ribonucleotides from DNA promotes systemic autoimmunity.

artículo científico publicado en 2014

Expanding the phenotypic spectrum associated with DPF2: A new case report

artículo científico publicado en 2019

Extreme growth failure is a common presentation of ligase IV deficiency

artículo científico publicado en 2013

Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes

artículo científico publicado en 2011

Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations

scientific article published on 20 July 2012

Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome

artículo científico publicado en 2019

Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice

artículo científico publicado en 2011

Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

artículo científico publicado en 2012

Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

article

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

scientific article published on 29 June 2016

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

artículo científico publicado en 2017

Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome

artículo científico publicado en 2011

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

artículo científico publicado en 2014

Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis

artículo científico publicado en 2016

Mutations in the NHEJ component XRCC4 cause primordial dwarfism

artículo científico publicado en 2015

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

artículo científico publicado en 2011

Mutations in two regions of FLNB result in atelosteogenesis I and III.

artículo científico publicado en 2006

Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity

artículo científico publicado en 2020

Quantifying single nucleotide variant detection sensitivity in exome sequencing

artículo científico publicado en 2013

Rare variants of the 3'-5' DNA exonuclease TREX1 in early onset small vessel stroke.

artículo científico publicado en 2017

SET nuclear oncogene associates with microcephalin/MCPH1 and regulates chromosome condensation

artículo científico publicado en 2011

Successful pregnancies in an adult with Meier-Gorlin syndrome harboring biallelic CDT1 variants

artículo científico publicado en 2020

TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism

artículo científico publicado en 2015

The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes

artículo científico publicado en 2015

Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1.

artículo científico publicado en 2015

Lista de obras de

A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss

Analysis of novel missense ATR mutations reveals new splicing defects underlying Seckel syndrome

Biallelic variants in DNA2 cause microcephalic primordial dwarfism

Biallelic variants in SLC35C1 as a cause of isolated short stature with intellectual disability

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

Cerebral organoids model human brain development and microcephaly

Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

Corrigendum: Mutations in genes encoding condensins cause microcephaly through decatenation failure at mitosis

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

Defective removal of ribonucleotides from DNA promotes systemic autoimmunity.

Expanding the phenotypic spectrum associated with DPF2: A new case report

Extreme growth failure is a common presentation of ligase IV deficiency

Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes

Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations

Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome

Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice

Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis

Mutations in the NHEJ component XRCC4 cause primordial dwarfism

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

Mutations in two regions of FLNB result in atelosteogenesis I and III.

Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity

Quantifying single nucleotide variant detection sensitivity in exome sequencing

Rare variants of the 3'-5' DNA exonuclease TREX1 in early onset small vessel stroke.

SET nuclear oncogene associates with microcephalin/MCPH1 and regulates chromosome condensation

Successful pregnancies in an adult with Meier-Gorlin syndrome harboring biallelic CDT1 variants

TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism

The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes

Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1.