List of works - Leslie G Biesecker

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

scientific article (publication date: 14 May 2010)

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

scientific article

Ethical and practical guidelines for reporting genetic research results to study participants: updated guidelines from a National Heart, Lung, and Blood Institute working group

scientific article

Diagnostic Clinical Genome and Exome Sequencing

scientific article published on June 19, 2014

A genomic view of mosaicism and human disease

scientific article published on May 1, 2013

The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine

scientific article published on 14 July 2009

Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing

scientific article

Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder

scientific article

Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.

scientific article

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

scientific article published on 2 June 2016

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

scientific article

Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes

scientific article published on June 14, 2012

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA

scientific article

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

scientific article published on 15 March 2012

Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency

scientific article

Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy

scientific article

Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene

scientific article

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations

scientific article

Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study

scientific article published on 15 August 2012

VarSifter: Visualizing and analyzing exome-scale sequence variation data on a desktop computer

scientific article published on December 30, 2011

PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation

scientific article

Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: lessons from the ClinSeq project

scientific article published on February 16, 2012

Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome

scientific article

Next-generation sequencing demands next-generation phenotyping

scientific article published on March 27, 2012

Exome sequencing makes medical genomics a reality

scientific article published in January 2010

Motivators for participation in a whole-genome sequencing study: implications for translational genomics research

scientific article published on July 6, 2011

Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate

scientific article

High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

scientific article published on 12 March 2015

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum

scientific article

The challenges of Proteus syndrome: diagnosis and management

scientific article published on 2 August 2006

Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework.

scientific article

The Phenotype of a Germline Mutation in PIGA: The Gene Somatically Mutated in Paroxysmal Nocturnal Hemoglobinuria

scientific article published on February 2, 2012

Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia

scientific article

Next-generation sequencing in the clinic: are we ready?

scientific article

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

scientific article

Addressing the Ethical Challenges in Genetic Testing and Sequencing of Children

scientific article published on January 1, 2014

Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases

scientific article

A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo

scientific article published on 11 October 2012

Mutant deoxynucleotide carrier is associated with congenital microcephaly

scientific article

Systematic Evaluation of Sanger Validation of Next-Generation Sequencing Variants

scientific article published on 04 February 2016

A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome

scientific article

Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research

scientific article

Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptional

scientific article published on July 2013

Hedgehog signaling regulates sensory cell formation and auditory function in mice and humans

scientific article

A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N)

scientific article published on 9 November 2011

Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation

scientific article

Recommendations for the integration of genomics into clinical practice

scientific article published on 12 May 2016

Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)

scientific article

Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance

scientific article

Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients

scientific article

List of works by Leslie G Biesecker

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

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

Ethical and practical guidelines for reporting genetic research results to study participants: updated guidelines from a National Heart, Lung, and Blood Institute working group

Diagnostic Clinical Genome and Exome Sequencing

A genomic view of mosaicism and human disease

The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine

Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing

Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder

Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA

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

Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency

Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy

Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations

Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study

VarSifter: Visualizing and analyzing exome-scale sequence variation data on a desktop computer

PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation

Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: lessons from the ClinSeq project

Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome

Next-generation sequencing demands next-generation phenotyping

Exome sequencing makes medical genomics a reality

Motivators for participation in a whole-genome sequencing study: implications for translational genomics research

Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate

High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum

The challenges of Proteus syndrome: diagnosis and management

Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework.

The Phenotype of a Germline Mutation in PIGA: The Gene Somatically Mutated in Paroxysmal Nocturnal Hemoglobinuria

Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia

Next-generation sequencing in the clinic: are we ready?

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Addressing the Ethical Challenges in Genetic Testing and Sequencing of Children

Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases

A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo

Mutant deoxynucleotide carrier is associated with congenital microcephaly

Systematic Evaluation of Sanger Validation of Next-Generation Sequencing Variants

A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome

Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research

Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptional

Hedgehog signaling regulates sensory cell formation and auditory function in mice and humans

A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N)

Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation

Recommendations for the integration of genomics into clinical practice

Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)

Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance

Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients