Lista de obras -

A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects

artículo científico publicado en 2016

A Genocentric Approach to Discovery of Mendelian Disorders

scientific article published on 24 October 2019

A Novel STXBP1 Mutation Causes Focal Seizures With Neonatal Onset ⬇️

artículo científico publicado el 1 de junio de 2012

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

artículo científico publicado en 2019

A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins

artículo científico publicado en 2017

A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing

article

A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics.

artículo científico publicado en 2016

ASSESSING THE UTILITY OF CLINICAL TUMOR SEQUENCING IN THE PEDIATRIC NEURO-ONCOLOGY CLINIC.

artículo científico publicado en 2014

Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel

scientific article published on 20 March 2019

Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma

artículo científico publicado en 2018

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

artículo científico publicado en 2016

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features

artículo científico publicado en 2017

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

scientific article published on 25 December 2018

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

artículo científico publicado en 2020

CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities.

artículo científico publicado en 2016

Characterization of a recurrent 3.8kb deletion involving exons 17a and 17b within the CFTR gene ⬇️

artículo científico publicado el 19 de septiembre de 2012

Characterization of the renal phenotype in RMND1-related mitochondrial disease

artículo científico publicado en 2019

Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis ⬇️

artículo científico publicado el 6 de diciembre de 2012

Clinical and molecular characterization of de novo loss of function variants in HNRNPU.

artículo científico publicado en 2017

Clinical application of whole-exome sequencing: a novel autosomal recessive spastic ataxia of Charlevoix-Saguenay sequence variation in a child with ataxia

artículo científico publicado en 2013

Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder

artículo científico publicado en 2018

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases

artículo científico publicado en 2009

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

artículo científico publicado en 2013

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

artículo científico publicado en 2013

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

scientific article published on 17 May 2019

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome

Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

artículo científico publicado en 2020

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

scientific article published on 02 July 2019

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

artículo científico publicado en 2015

De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features

scientific article published on 28 June 2018

De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive

artículo científico publicado en 2016

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome

artículo científico publicado en 2019

De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities.

artículo científico publicado en 2018

De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures.

artículo científico publicado en 2019

De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia

artículo científico publicado en 2016

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea

artículo científico publicado en 2014

Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors

artículo científico publicado en 2016

Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome

artículo científico publicado en 2008

Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutation ⬇️

artículo científico publicado el 6 de julio de 2011

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

artículo científico publicado en 2017

Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome

artículo científico publicado en 2013

Evolution of prenatal genetics: from point mutation testing to chromosomal microarray analysis

artículo científico publicado en 2005

Exome Sequencing: Applications From the Lab Bench to the Clinic

Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype.

artículo científico publicado en 2017

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

artículo científico publicado en 2013

Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review

artículo científico publicado en 2019

Genetic Diagnosis through Whole-Exome Sequencing

scientific article published on 01 March 2014

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

artículo científico publicado en 2017

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

artículo científico publicado en 2017

Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability

artículo científico publicado en 2017

Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy

artículo científico publicado en 2016

IRF2BPL Is Associated with Neurological Phenotypes

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

artículo científico publicado en 2006

Integrated tumor and germline whole-exome sequencing identifies mutations in MAPK and PI3K pathway genes in an adolescent with rosette-forming glioneuronal tumor of the fourth ventricle

scientific article published on September 2016

Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss

artículo científico publicado en 2008

Is Whole-Exome Sequencing an Ethically Disruptive Technology? Perspectives of Pediatric Oncologists and Parents of Pediatric Patients With Solid Tumors

artículo científico publicado en 2015

LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining

scientific article published on 19 May 2011

Lessons learned from additional research analyses of unsolved clinical exome cases

artículo científico publicado en 2017

Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions

artículo científico publicado en 2020

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

artículo científico publicado en 2016

Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization

artículo científico publicado en 2008

Molecular diagnostic experience of whole-exome sequencing in adult patients

artículo científico publicado en 2015

Molecular findings among patients referred for clinical whole-exome sequencing

artículo científico publicado en 2014

Multiplex ligation‐dependent probe amplification (MLPA) and prenatal diagnosis ⬇️

artículo científico publicado el 1 de abril de 2012

Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome

artículo científico publicado en 2014

Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency

artículo científico publicado en 2012

Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis

scientific journal article

Next-Generation Sequencing to Diagnose Suspected Genetic Disorders

scientific article published on 01 January 2019

Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA

artículo científico publicado en 2019

Obtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patients

artículo científico publicado en 2014

POGZ truncating alleles cause syndromic intellectual disability.

artículo científico publicado en 2016

Phenotypic expansion in - a common cause of intellectual disability in females

artículo científico publicado en 2018

Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young

artículo científico publicado en 2016

Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives

artículo científico publicado en 2008

Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization

artículo científico publicado en 2006

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

artículo científico publicado en 2016

Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium

artículo científico publicado en 2013

Publisher Correction: Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA

scientific article published on 01 April 2019

Reanalysis of Clinical Exome Sequencing Data

artículo científico publicado en 2019

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

artículo científico publicado en 2016

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

scientific journal article

Regional genomic instability predisposes to complex dystrophin gene rearrangements

artículo científico publicado en 2009

Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemia

artículo científico publicado en 2016

Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice

artículo científico

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

artículo científico publicado en 2016

TBIO-20. CLINICAL TUMOR WHOLE EXOME SEQUENCING FOR PEDIATRIC NEURO-ONCOLOGY PATIENTS – RESULTS FROM THE BAYLOR ADVANCING SEQUENCING IN CHILDHOOD CANCER CARE (BASIC3) CLINICAL SEQUENCING STUDY

The ethics of conducting molecular autopsies in cases of sudden death in the young

artículo científico publicado en 2016

The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing.

artículo científico publicado en 2017

Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability

artículo científico publicado en 2018

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.

artículo científico publicado en 2017

Use of MALDI-TOF mass spectrometry in a 51-mutation test for cystic fibrosis: evidence that 3199del6 is a disease-causing mutation

artículo científico publicado en 2004

What’s in an exome? Diversity of diagnostic and incidental findings revealed by clinical tumor and germline sequencing of 100 children with solid tumors

Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE).

artículo científico publicado en 2016

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 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

Lista de obras de

A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects

A Genocentric Approach to Discovery of Mendelian Disorders

A Novel STXBP1 Mutation Causes Focal Seizures With Neonatal Onset ⬇️

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins

A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing

A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics.

ASSESSING THE UTILITY OF CLINICAL TUMOR SEQUENCING IN THE PEDIATRIC NEURO-ONCOLOGY CLINIC.

Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel

Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma

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

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities.

Characterization of a recurrent 3.8kb deletion involving exons 17a and 17b within the CFTR gene ⬇️

Characterization of the renal phenotype in RMND1-related mitochondrial disease

Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis ⬇️

Clinical and molecular characterization of de novo loss of function variants in HNRNPU.

Clinical application of whole-exome sequencing: a novel autosomal recessive spastic ataxia of Charlevoix-Saguenay sequence variation in a child with ataxia

Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome

Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

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

De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features

De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome

De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities.

De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures.

De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea

Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors

Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome

Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutation ⬇️

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome

Evolution of prenatal genetics: from point mutation testing to chromosomal microarray analysis

Exome Sequencing: Applications From the Lab Bench to the Clinic

Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype.

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

Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review

Genetic Diagnosis through Whole-Exome Sequencing

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability

Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy

IRF2BPL Is Associated with Neurological Phenotypes

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

Integrated tumor and germline whole-exome sequencing identifies mutations in MAPK and PI3K pathway genes in an adolescent with rosette-forming glioneuronal tumor of the fourth ventricle

Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss

Is Whole-Exome Sequencing an Ethically Disruptive Technology? Perspectives of Pediatric Oncologists and Parents of Pediatric Patients With Solid Tumors

LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining

Lessons learned from additional research analyses of unsolved clinical exome cases

Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions

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

Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization

Molecular diagnostic experience of whole-exome sequencing in adult patients

Molecular findings among patients referred for clinical whole-exome sequencing

Multiplex ligation‐dependent probe amplification (MLPA) and prenatal diagnosis ⬇️

Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome

Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency

Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis

Next-Generation Sequencing to Diagnose Suspected Genetic Disorders

Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA

Obtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patients

POGZ truncating alleles cause syndromic intellectual disability.

Phenotypic expansion in - a common cause of intellectual disability in females

Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young

Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives