Lista de obras -

8q24 genetic variation and comprehensive haplotypes altering familial risk of prostate cancer

artículo científico publicado en 2020

A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex

artículo científico publicado en 2013

A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families.

artículo científico publicado en 2015

A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1).

artículo científico publicado en 2015

A2ML1 and otitis media: novel variants, differential expression, and relevant pathways

scientific article published on 21 May 2019

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

scientific journal article

Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.

artículo científico publicado en 2017

Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish

artículo científico publicado en 2014

An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS.

artículo científico publicado en 2017

An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome.

artículo científico publicado en 2016

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes ⬇️

scientific journal article

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.

artículo científico publicado en 2018

Ari-1 Regulates Myonuclear Organization Together with Parkin and Is Associated with Aortic Aneurysms.

artículo científico publicado en 2018

Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation

artículo científico publicado en 2018

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

artículo científico publicado en 2015

Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2

artículo científico publicado en 2016

Challenges and solutions for gene identification in the presence of familial locus heterogeneity

artículo científico publicado en 2014

Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.

artículo científico publicado en 2016

DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients

artículo científico publicado en 2018

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

scientific journal article

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism

artículo científico publicado en 2019

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism

artículo científico publicado en 2019

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

artículo científico publicado en 2018

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay

artículo científico publicado en 2015

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

artículo científico publicado en 2019

ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes

artículo científico publicado en 2017

Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data

scientific article published on 21 July 2019

Expanding the Molecular and Clinical Phenotype of SSR4-CDG.

artículo científico publicado en 2015

Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.

artículo científico publicado en 2017

Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability

artículo científico publicado en 2015

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

artículo científico publicado en 2018

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome

artículo científico publicado en 2018

Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech

artículo científico publicado en 2016

Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes

artículo científico publicado en 2018

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

artículo científico publicado en 2016

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss

article

Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population

artículo científico publicado en 2015

Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani population.

artículo científico publicado en 2015

Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance

artículo científico publicado en 2018

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

artículo científico publicado en 2015

KIAA0586 is Mutated in Joubert Syndrome

artículo científico publicado en 2015

LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.

artículo científico publicado en 2016

LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections.

artículo científico publicado en 2018

Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts

artículo científico publicado en 2018

Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease

artículo científico publicado en 2016

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

artículo científico publicado en 2014

MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance

scientific article published on 21 November 2018

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

scientific journal article

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

artículo científico publicado en 2020

Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP.

artículo científico publicado en 2016

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.

artículo científico publicado en 2016

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation

artículo científico publicado en 2013

Mutation of ATF6 causes autosomal recessive achromatopsia

artículo científico publicado en 2015

Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.

artículo científico

Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis.

artículo científico publicado en 2016

Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type

artículo científico publicado en 2016

Mutations in ECEL1 cause distal arthrogryposis type 5D

artículo científico publicado en 2012

Mutations in KCTD1 cause scalp-ear-nipple syndrome

artículo científico publicado en 2013

Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy

artículo científico publicado en 2014

Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis ⬇️

artículo científico publicado en 2020

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

artículo científico publicado en 2014

Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.

artículo científico publicado en 2014

Mutations in TJP2 cause progressive cholestatic liver disease

artículo científico publicado en 2014

Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers.

artículo científico publicado en 2018

Mutations in the translocon-associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation

artículo científico publicado en 2019

Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1

artículo científico publicado en 2014

Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections

artículo científico publicado en 2015

Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly

scientific article published on 10 February 2020

Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease

artículo científico publicado en 2013

Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission.

artículo científico publicado en 2017

RNF213 rare variants in an ethnically diverse population with Moyamoya disease

artículo científico publicado en 2014

Rare A2ML1 variants confer susceptibility to otitis media

artículo científico publicado en 2015

Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy

artículo científico publicado en 2016

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

artículo científico publicado en 2016

SMAD4 rare variants in individuals and families with thoracic aortic aneurysms and dissections

scientific article published on 26 February 2019

Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.

artículo científico publicado en 2017

Sequencing of sporadic Attention-Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum disorder

artículo científico publicado en 2017

Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.

artículo científico publicado en 2017

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery

artículo científico publicado en 2016

Using Whole Exome Sequencing to Identify Candidate Genes With Rare Variants In Nonsyndromic Cleft Lip and Palate.

artículo científico publicado en 2016

Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome.

artículo científico publicado en 2015

Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia

artículo científico publicado en 2012

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

scientific article published on 10 January 2019

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

artículo científico publicado en 2019

Lista de obras de

8q24 genetic variation and comprehensive haplotypes altering familial risk of prostate cancer

A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex

A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families.

A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1).

A2ML1 and otitis media: novel variants, differential expression, and relevant pathways

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.

Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish

An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS.

An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome.

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes ⬇️

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.

Ari-1 Regulates Myonuclear Organization Together with Parkin and Is Associated with Aortic Aneurysms.

Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2

Challenges and solutions for gene identification in the presence of familial locus heterogeneity

Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.

DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes

Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data

Expanding the Molecular and Clinical Phenotype of SSR4-CDG.

Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.

Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome

Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech

Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss

Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population

Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani population.

Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

KIAA0586 is Mutated in Joubert Syndrome

LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.

LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections.

Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts

Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP.

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation

Mutation of ATF6 causes autosomal recessive achromatopsia

Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.

Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis.

Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type

Mutations in ECEL1 cause distal arthrogryposis type 5D

Mutations in KCTD1 cause scalp-ear-nipple syndrome

Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy

Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis ⬇️

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.

Mutations in TJP2 cause progressive cholestatic liver disease

Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers.

Mutations in the translocon-associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation

Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1

Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections

Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly

Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease

Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission.

RNF213 rare variants in an ethnically diverse population with Moyamoya disease

Rare A2ML1 variants confer susceptibility to otitis media

Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

SMAD4 rare variants in individuals and families with thoracic aortic aneurysms and dissections

Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.

Sequencing of sporadic Attention-Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum disorder

Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery