Lista de obras -

A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy

artículo científico publicado en 2018

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases

scientific journal article

A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy

artículo científico publicado en 2018

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2

scientific journal article

An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation

artículo científico publicado en 2017

Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

artículo científico publicado en 2016

Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.

artículo científico publicado en 2016

COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis

artículo científico publicado en 2015

Cerebral visual impairment and intellectual disability caused by PGAP1 variants

artículo científico publicado en 2015

Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy

artículo científico publicado en 2014

DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome

artículo científico publicado en 2015

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

artículo científico publicado en 2015

Evolutionary and Biomedical Insights from the Rhesus Macaque Genome

artículo científico publicado en 2007

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

artículo científico publicado en 2013

Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis

artículo científico publicado en 2015

Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency

artículo científico publicado en 2014

Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS)

scientific article published on 22 January 2020

Genetic architecture of laterality defects revealed by whole exome sequencing

artículo científico publicado en 2019

Genome sequence of an Australian kangaroo, Macropus eugenii, provides insight into the evolution of mammalian reproduction and development

artículo científico publicado en 2011

Germ-line and somatic DICER1 mutations in pineoblastoma

artículo científico publicado en 2014

Germline mutations in shelterin complex genes are associated with familial glioma

artículo científico publicado en 2015

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes

artículo científico publicado en 2015

HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease

scientific article published on 01 July 2020

Hemichordate genomes and deuterostome origins

artículo científico publicado en 2015

Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome

artículo científico publicado en 2014

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort

artículo científico publicado en 2016

Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism

artículo científico publicado en 2015

Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function

artículo científico publicado en 2014

Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.

artículo científico publicado en 2016

Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome

artículo científico publicado en 2019

Lessons learned from additional research analyses of unsolved clinical exome cases

artículo científico publicado en 2017

MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

artículo científico publicado en 2016

Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy

artículo científico publicado en 2016

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations

artículo científico publicado en 2014

Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses

artículo científico publicado en 2015

Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa

artículo científico publicado en 2018

Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population

artículo científico publicado en 2014

Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly

artículo científico publicado en 2013

NR2F1 mutations cause optic atrophy with intellectual disability.

artículo científico publicado en 2014

New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy

artículo científico publicado en 2015

New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.

artículo científico publicado en 2014

Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction

artículo científico publicado en 2017

Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome

scientific article published on 30 July 2019

Novel genetic causes for cerebral visual impairment

artículo científico publicado en 2015

PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia

artículo científico publicado en 2014

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

artículo científico publicado en 2016

Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation

artículo científico publicado en 2015

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

artículo científico publicado en 2016

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

scientific journal article

Secondary findings and carrier test frequencies in a large multiethnic sample

artículo científico publicado en 2015

Somatic mutations affect key pathways in lung adenocarcinoma

artículo científico publicado en 2008

Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome

artículo científico publicado en 2014

Targeted sequencing in chromosome 17q linkage region identifies familial glioma candidates in the Gliogene Consortium

artículo científico publicado en 2015

The Drosophila melanogaster Genetic Reference Panel

artículo científico publicado en 2012

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

artículo científico publicado en 2015

The first myriapod genome sequence reveals conservative arthropod gene content and genome organisation in the centipede Strigamia maritima ⬇️

artículo científico publicado en 2014

The genome of the model beetle and pest Tribolium castaneum

artículo científico publicado en 2008

The genome sequence of taurine cattle: a window to ruminant biology and evolution

artículo científico publicado en 2009

The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.

artículo científico publicado en 2015

The sheep genome illuminates biology of the rumen and lipid metabolism

artículo científico publicado en 2014

Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1-q35.3 susceptibility locus identified by whole-exome sequencing

artículo científico publicado en 2016

Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy

artículo científico publicado en 2015

Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns

artículo científico publicado en 2017

Whole exome sequencing in a large pedigree with DCM identifies a novel mutation in RBM20

scientific article published on 04 October 2019

Whole-Exome Sequencing in Familial Parkinson Disease

artículo científico publicado en 2015

Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome

artículo científico publicado en 2015

Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia.

artículo científico publicado en 2015

Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

artículo científico publicado en 2016

Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia

artículo científico publicado en 2014

Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia

artículo científico publicado en 2014

Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation

scientific article published on 31 March 2020

Lista de obras de

A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases

A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2

An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation

Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.

COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis

Cerebral visual impairment and intellectual disability caused by PGAP1 variants

Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy

DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

Evolutionary and Biomedical Insights from the Rhesus Macaque Genome

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis

Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency

Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS)

Genetic architecture of laterality defects revealed by whole exome sequencing

Genome sequence of an Australian kangaroo, Macropus eugenii, provides insight into the evolution of mammalian reproduction and development

Germ-line and somatic DICER1 mutations in pineoblastoma

Germline mutations in shelterin complex genes are associated with familial glioma

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes

HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease

Hemichordate genomes and deuterostome origins

Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort

Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism

Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function

Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.

Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome

Lessons learned from additional research analyses of unsolved clinical exome cases

MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations

Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses

Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa

Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population

Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly

NR2F1 mutations cause optic atrophy with intellectual disability.

New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy

New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.

Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction

Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome

Novel genetic causes for cerebral visual impairment

PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

Secondary findings and carrier test frequencies in a large multiethnic sample

Somatic mutations affect key pathways in lung adenocarcinoma

Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome

Targeted sequencing in chromosome 17q linkage region identifies familial glioma candidates in the Gliogene Consortium

The Drosophila melanogaster Genetic Reference Panel

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

The first myriapod genome sequence reveals conservative arthropod gene content and genome organisation in the centipede Strigamia maritima ⬇️

The genome of the model beetle and pest Tribolium castaneum

The genome sequence of taurine cattle: a window to ruminant biology and evolution

The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.

The sheep genome illuminates biology of the rumen and lipid metabolism

Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1-q35.3 susceptibility locus identified by whole-exome sequencing

Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy

Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns

Whole exome sequencing in a large pedigree with DCM identifies a novel mutation in RBM20

Whole-Exome Sequencing in Familial Parkinson Disease

Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome

Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia.

Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia

Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia

Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation