Lista de obras -

A Clinician's perspective on clinical exome sequencing.

artículo científico publicado en 2016

A prospective assessment of the Y402H variant in complement factor H, genetic variants in C-reactive protein, and risk of age-related macular degeneration

artículo científico publicado en 2006

A prospective study of radiographic manifestations in Hutchinson-Gilford progeria syndrome

artículo científico publicado en 2012

Advances in Genetic Discovery and Implications for Counseling of Patients and Families with Autism Spectrum Disorders

scholarly article by Jun Shen et al published 2 July 2014 in Current genetic medicine reports

Age- and gender-dependent obesity in individuals with 16p11.2 deletion

artículo científico publicado en 2011

Association between microdeletion and microduplication at 16p11.2 and autism

artículo científico publicado en 2008

Atherosclerosis: the path from genomics to therapeutics

artículo científico publicado en 2007

BRAT1 mutations present with a spectrum of clinical severity

artículo científico publicado en 2016

Chromosomal microarray testing influences medical management ⬇️

artículo científico publicado el 1 de septiembre de 2011

Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield

artículo científico publicado en 2014

Classifying Germline Sequence Variants in the Era of Next-Generation Sequencing

artículo científico publicado en 2016

Clinical Trial of the Protein Farnesylation Inhibitors Lonafarnib, Pravastatin, and Zoledronic Acid in Children With Hutchinson-Gilford Progeria Syndrome

artículo científico publicado en 2016

Clinical genetic testing for patients with autism spectrum disorders

artículo científico publicado en 2010

Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson-Gilford progeria syndrome

artículo científico publicado en 2012

Cognitive and behavioral characterization of 16p11.2 deletion syndrome

artículo científico publicado en 2010

Commentary: 2016 Clinical Epilepsia Prize

artículo científico publicado en 2016

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

artículo científico publicado en 2010

Copy number variation plays an important role in clinical epilepsy

artículo científico publicado en 2014

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation

article

Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

artículo científico publicado en 2020

Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders

artículo científico publicado en 2010

Density matters: comparison of array platforms for detection of copy-number variation and copy-neutral abnormalities ⬇️

artículo científico publicado el 4 de abril de 2013

Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance

artículo científico publicado en 2007

Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss

artículo científico publicado en 2009

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation

artículo científico publicado en 2018

Exploring concordance and discordance for return of incidental findings from clinical sequencing

artículo científico publicado en 2012

Genetic diagnosis of primary immune deficiencies

artículo científico publicado en 2008

Genetic testing for autism: recent advances and clinical implications ⬇️

artículo científico publicado el 1 de octubre de 2010

Genetic testing for developmental delay: keep searching for an answer

artículo científico publicado en 2009

Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases

artículo científico publicado en 2010

GenomeConnect: matchmaking between patients, clinical laboratories, and researchers to improve genomic knowledge

artículo científico publicado en 2015

Genomics of MPNST (GeM) Consortium: Rationale and Study Design for Multi-Omic Characterization of NF1-Associated and Sporadic MPNSTs

scientific article published on 02 April 2020

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

artículo científico publicado en 2017

Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2

scientific article published on 31 December 2020

Health Supervision for Children With Neurofibromatosis Type 1

scientific article published on 01 May 2019

Hutchinson-Gilford progeria is a skeletal dysplasia

artículo científico publicado en 2011

Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome.

artículo científico publicado en 2008

Insufficient Evidence for "Autism-Specific" Genes

artículo científico publicado en 2020

Lack of Association Between Genetic Variation in 9 Innate Immunity Genes and Baseline CRP Levels

article

Mechanisms of premature vascular aging in children with Hutchinson-Gilford progeria syndrome

artículo científico publicado en 2011

Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

scientific article published on 11 June 2019

Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics

article

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.

artículo científico publicado en 2008

Neurologic features of Hutchinson-Gilford progeria syndrome after lonafarnib treatment

artículo científico publicado en 2013

Novel presentation of Omenn syndrome in association with aniridia

artículo científico publicado en 2009

Oligonucleotide Microarrays for Clinical Diagnosis of Copy Number Variation and Zygosity Status ⬇️

artículo científico publicado el 1 de julio de 2012

Oligonucleotide microarrays for clinical diagnosis of copy number variation

artículo científico publicado en 2008

Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG)

artículo científico publicado en 2018

Phenotypic information in genomic variant databases enhances clinical care and research: the International Standards for Cytogenomic Arrays Consortium experience

artículo científico publicado en 2012

Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG)

artículo científico publicado en 2020

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

artículo científico publicado en 2016

Recurrent unexplained hyperammonemia in an adolescent with arginase deficiency

artículo científico publicado en 2012

Response to Biesecker

artículo científico publicado en 2017

Response to Knoppers et al

scientific article published on 11 April 2019

SLC26A4 c.919-2A>G varies among Chinese ethnic groups as a cause of hearing loss

artículo científico publicado en 2008

School liaison program supporting children with neurofibromatosis type 1: a model of care for children with chronic disease

artículo científico publicado en 2017

Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region

artículo científico publicado en 2007

Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability

artículo científico publicado en 2020

The adult galactosemic phenotype

artículo científico publicado en 2011

Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations

artículo científico publicado en 2012

Treating the whole person with autism: the proceedings of the Autism Speaks National Autism Conference

artículo científico publicado en 2014

Venous thrombosis associated with gene deletion of tissue factor pathway inhibitor

artículo científico publicado en 2009

Whole-Genome Sequencing: Ready for Prime Time? ⬇️

artículo científico publicado el 1 de diciembre de 2012

Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

artículo científico publicado en 2018

Lista de obras de

A Clinician's perspective on clinical exome sequencing.

A prospective assessment of the Y402H variant in complement factor H, genetic variants in C-reactive protein, and risk of age-related macular degeneration

A prospective study of radiographic manifestations in Hutchinson-Gilford progeria syndrome

Advances in Genetic Discovery and Implications for Counseling of Patients and Families with Autism Spectrum Disorders

Age- and gender-dependent obesity in individuals with 16p11.2 deletion

Association between microdeletion and microduplication at 16p11.2 and autism

Atherosclerosis: the path from genomics to therapeutics

BRAT1 mutations present with a spectrum of clinical severity

Chromosomal microarray testing influences medical management ⬇️

Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield

Classifying Germline Sequence Variants in the Era of Next-Generation Sequencing

Clinical Trial of the Protein Farnesylation Inhibitors Lonafarnib, Pravastatin, and Zoledronic Acid in Children With Hutchinson-Gilford Progeria Syndrome

Clinical genetic testing for patients with autism spectrum disorders

Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson-Gilford progeria syndrome

Cognitive and behavioral characterization of 16p11.2 deletion syndrome

Commentary: 2016 Clinical Epilepsia Prize

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

Copy number variation plays an important role in clinical epilepsy

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation

Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders

Density matters: comparison of array platforms for detection of copy-number variation and copy-neutral abnormalities ⬇️

Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance

Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation

Exploring concordance and discordance for return of incidental findings from clinical sequencing

Genetic diagnosis of primary immune deficiencies

Genetic testing for autism: recent advances and clinical implications ⬇️

Genetic testing for developmental delay: keep searching for an answer

Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases

GenomeConnect: matchmaking between patients, clinical laboratories, and researchers to improve genomic knowledge

Genomics of MPNST (GeM) Consortium: Rationale and Study Design for Multi-Omic Characterization of NF1-Associated and Sporadic MPNSTs

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2

Health Supervision for Children With Neurofibromatosis Type 1

Hutchinson-Gilford progeria is a skeletal dysplasia

Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome.

Insufficient Evidence for "Autism-Specific" Genes

Lack of Association Between Genetic Variation in 9 Innate Immunity Genes and Baseline CRP Levels

Mechanisms of premature vascular aging in children with Hutchinson-Gilford progeria syndrome

Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.

Neurologic features of Hutchinson-Gilford progeria syndrome after lonafarnib treatment

Novel presentation of Omenn syndrome in association with aniridia

Oligonucleotide Microarrays for Clinical Diagnosis of Copy Number Variation and Zygosity Status ⬇️

Oligonucleotide microarrays for clinical diagnosis of copy number variation

Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG)

Phenotypic information in genomic variant databases enhances clinical care and research: the International Standards for Cytogenomic Arrays Consortium experience

Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG)

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

Recurrent unexplained hyperammonemia in an adolescent with arginase deficiency

Response to Biesecker

Response to Knoppers et al

SLC26A4 c.919-2A>G varies among Chinese ethnic groups as a cause of hearing loss

School liaison program supporting children with neurofibromatosis type 1: a model of care for children with chronic disease

Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region

Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability

The adult galactosemic phenotype

Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations

Treating the whole person with autism: the proceedings of the Autism Speaks National Autism Conference

Venous thrombosis associated with gene deletion of tissue factor pathway inhibitor

Whole-Genome Sequencing: Ready for Prime Time? ⬇️

Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)