Lista de obras -

A 4-bp insertion in the eya-homologous region (eyaHR) of EYA4 causes hearing impairment in a Hungarian family linked to DFNA10

artículo científico publicado en 2002

A de novo gain-of-function mutation in SCN11A causes loss of pain perception

artículo científico publicado en 2013

A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations

artículo científico publicado en 2004

A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy

artículo científico publicado en 2014

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family

artículo científico publicado en 2014

A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping

artículo científico publicado en 2013

A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family

artículo científico publicado en 2015

A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome

artículo científico publicado en 2015

A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation

artículo científico publicado en 2015

A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of product

artículo científico publicado en 2016

A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function

artículo científico publicado en 2012

Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder

artículo científico publicado en 2017

Alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism are both ATP1A3-related disorders.

artículo científico publicado en 2014

Analysis ofELP4,SRPX2, and interacting genes in typical and atypical rolandic epilepsy

article

Assessing the enrichment performance in targeted resequencing experiments

artículo científico publicado en 2012

Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer

artículo científico publicado en 2016

Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE).

artículo científico publicado en 2017

Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish

artículo científico publicado en 2012

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies

artículo científico publicado en 2015

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer

artículo científico publicado en 2018

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation

artículo científico publicado en 2015

Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum

artículo científico publicado en 2013

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly

artículo científico publicado en 2013

CHD2 variants are a risk factor for photosensitivity in epilepsy

artículo científico publicado en 2015

Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression ⬇️

artículo científico publicado el 1 de noviembre de 2010

Complex karyotypes and KRAS and POT1 mutations impact outcome in CLL after chlorambucil-based chemotherapy or chemoimmunotherapy

artículo científico publicado en 2016

Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.

artículo científico publicado en 2017

DEPDC5 mutations in genetic focal epilepsies of childhood

artículo científico publicado en 2014

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction

artículo científico publicado en 2017

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

artículo científico publicado en 2017

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome

artículo científico publicado en 2012

Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia

artículo científico publicado en 2013

Dominant SCN2A Mutation Causes Familial Episodic Ataxia and Impairment of Speech Development

Dysfunction of the MDM2/p53 axis is linked to premature aging

artículo científico

Effects of PPP1R1B (DARPP-32) Polymorphism on Feedback-Related Brain Potentials Across the Life Span

artículo científico publicado en 2013

Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes

artículo científico publicado en 2016

Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice

artículo científico publicado en 2016

Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS).

artículo científico publicado en 2017

Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy

artículo científico publicado en 2018

Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas

artículo científico publicado en 2015

Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer

artículo científico publicado en 2018

Germline Mutation Status, Pathological Complete Response, and Disease-Free Survival in Triple-Negative Breast Cancer: Secondary Analysis of the GeparSixto Randomized Clinical Trial

artículo científico publicado en 2017

Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study

artículo científico publicado en 2012

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome

artículo científico publicado en 2014

Homozygous mutation in TXNRD1 is associated with genetic generalized epilepsy

artículo científico publicado en 2017

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia

artículo científico publicado en 2017

Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations

artículo científico publicado en 2016

Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length

artículo científico publicado en 2013

Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing

artículo científico publicado en 2016

Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure

artículo científico publicado en 2013

Investigation of GRIN2A in common epilepsy phenotypes

artículo científico publicado en 2015

Leveraging the power of high performance computing for next generation sequencing data analysis: tricks and twists from a high throughput exome workflow

artículo científico publicado en 2015

Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3.

artículo científico publicado en 2005

Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement

artículo científico publicado en 2004

Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy

artículo científico publicado en 2015

Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome

artículo científico publicado en 2011

Mutation of POC1B in a severe syndromic retinal ciliopathy

artículo científico publicado en 2014

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

artículo científico publicado en 2012

Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome

artículo científico publicado en 2016

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome

artículo científico publicado en 2014

Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction

artículo científico publicado en 2013

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

artículo científico publicado en 2013

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

artículo científico publicado en 2014

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

artículo científico publicado en 2014

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

artículo científico publicado en 2014

Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome

scientific journal article

Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability

artículo científico publicado en 2015

Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathy

artículo científico publicado en 2018

Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations

artículo científico publicado en 2002

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease

artículo científico publicado en 2004

Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa

artículo científico publicado en 2017

Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex gene NPRL3.

artículo científico publicado en 2016

Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene

artículo científico publicado en 2015

Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss

artículo científico publicado en 2011

Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum

OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67).

artículo científico publicado en 2015

PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly

scientific journal article

Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations

scientific journal article

Prevalence of deleterious germline variants in risk genes including BRCA1/2 in consecutive ovarian cancer patients (AGO-TR-1).

artículo científico publicado en 2017

RBFOX1 and RBFOX3 mutations in rolandic epilepsy

artículo científico publicado en 2013

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features

artículo científico publicado en 2017

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

article

Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes

artículo científico publicado en 2015

Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability

artículo científico publicado en 2013

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

artículo científico publicado en 2013

Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia

artículo científico publicado en 2015

Schizophrenia risk polymorphisms in the TCF4 gene interact with smoking in the modulation of auditory sensory gating

artículo científico publicado en 2012

Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3

scientific journal article

TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)

artículo científico publicado en 2015

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

artículo científico publicado en 2015

The RAD51C exonic splice-site mutations c.404G>C and c.404G>T are associated with familial breast and ovarian cancer

artículo científico publicado en 2016

The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family

artículo científico publicado en 2016

Whole-Exome Sequencing in Nine Monozygotic Discordant Twins

artículo científico publicado en 2015

eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation

artículo científico publicado en 2012

Lista de obras de

A 4-bp insertion in the eya-homologous region (eyaHR) of EYA4 causes hearing impairment in a Hungarian family linked to DFNA10

A de novo gain-of-function mutation in SCN11A causes loss of pain perception

A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations

A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family

A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping

A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family

A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome

A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation

A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of product

A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function

Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder

Alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism are both ATP1A3-related disorders.

Analysis ofELP4,SRPX2, and interacting genes in typical and atypical rolandic epilepsy

Assessing the enrichment performance in targeted resequencing experiments

Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer

Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE).

Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation

Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly

CHD2 variants are a risk factor for photosensitivity in epilepsy

Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression ⬇️

Complex karyotypes and KRAS and POT1 mutations impact outcome in CLL after chlorambucil-based chemotherapy or chemoimmunotherapy

Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.

DEPDC5 mutations in genetic focal epilepsies of childhood

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome

Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia

Dominant SCN2A Mutation Causes Familial Episodic Ataxia and Impairment of Speech Development

Dysfunction of the MDM2/p53 axis is linked to premature aging

Effects of PPP1R1B (DARPP-32) Polymorphism on Feedback-Related Brain Potentials Across the Life Span

Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes

Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice

Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS).

Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy

Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas

Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer

Germline Mutation Status, Pathological Complete Response, and Disease-Free Survival in Triple-Negative Breast Cancer: Secondary Analysis of the GeparSixto Randomized Clinical Trial

Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome

Homozygous mutation in TXNRD1 is associated with genetic generalized epilepsy

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia

Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations

Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length

Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing

Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure

Investigation of GRIN2A in common epilepsy phenotypes

Leveraging the power of high performance computing for next generation sequencing data analysis: tricks and twists from a high throughput exome workflow

Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3.

Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement

Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy

Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome

Mutation of POC1B in a severe syndromic retinal ciliopathy

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome

Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

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

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome

Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability

Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathy

Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease

Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa

Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex gene NPRL3.

Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene

Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss

Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum

OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67).

PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly