List of works by Leslie G Biesecker

A Clinical Service to Support the Return of Secondary Genomic Findings in Human Research

scientific article

A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome

scientific article

A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N)

A candidate gene for autoimmune myasthenia gravis

scientific article

A common haplotype containing functional CACNA1H variants is frequently coinherited with increased TPSAB1 copy number

scientific article published on 21 September 2017

A de novo GLI3 mutation in a patient with acrocallosal syndrome

A dyadic genotype-phenotype approach to diagnostic criteria for Proteus syndrome

scientific article published on 06 November 2019

A genomic view of mosaicism and human disease

scientific article

A genotypic ascertainment approach to refute the association of MYO1A variants with non-syndromic deafness

scientific article

A hypomorphic PIGA gene mutation causes severe defects in neuron development and susceptibility to complement-mediated toxicity in a human iPSC model

scientific article

A limited form of proteus syndrome with bilateral plantar cerebriform collagenomas and varicose veins secondary to a mosaic AKT1 mutation

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

A maneuver to assess the presence of metacarpal or metatarsal osseous syndactyly: a physical finding useful for the differential diagnosis of polydactyly

scientific article published on 01 August 2007

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

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

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

scientific article

A taxonomy of medical uncertainties in clinical genome sequencing

scientific article

AKT1 gene mutation levels are correlated with the type of dermatologic lesions in patients with Proteus syndrome

scientific article published on 24 July 2013

Accuracy and precision in Bayesian analysis.

scientific article published in April 2005

Acinar cell apoptosis in Serpini2-deficient mice models pancreatic insufficiency

scientific article

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

scientific article

Addressing the ethical challenges in genetic testing and sequencing of children

scientific article

Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathies

scientific article published on 08 January 2020

An approach to pediatric exome and genome sequencing

scientific article

An introduction to standardized clinical nomenclature for dysmorphic features: the Elements of Morphology project ⬇️

scientific article published on October 4, 2010

Anabaptist genealogy database

scientific article

Approaches to informed consent for hypothesis-testing and hypothesis-generating clinical genomics research

scientific article

Assessing the reproducibility of exome copy number variations predictions

scientific article published on 08 August 2016

Assessment and management of the orthopedic and other complications of Proteus syndrome

scientific article

Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes

scientific article

Associations of perceived norms with intentions to learn genomic sequencing results: Roles for attitudes and ambivalence.

scientific article

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

scientific article published on 22 February 2018

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

scientific article

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

scientific article

Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS)

scientific article

CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

scientific article published in May 2017

Characterization of Courtesy Stigma Perceived by Parents of Overweight Children with Bardet-Biedl Syndrome

scientific article published on 16 October 2015

Characterization of the hepatosplenic and portal venous findings in patients with Proteus syndrome

article

Characterization of thrombosis in patients with Proteus syndrome.

scientific article published on 19 June 2017

Characterizing Participants in the ClinSeq Genome Sequencing Cohort as Early Adopters of a New Health Technology

scientific article published on 17 July 2015

Characterizing genetic variants for clinical action

scientific article

Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S Genotypes

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

scientific article

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

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Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome.

scientific article published in December 2003

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

scientific article

Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.

scientific article published on 29 April 2015

Cognitive, sensory, and psychosocial characteristics in patients with Bardet-Biedl syndrome.

scientific article

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

scientific article

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

scientific article

Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome

scientific article

Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome: CNS malformations and seizures may be a component of this disorder

scientific article published in October 2008

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)

Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes

scientific article published on 19 December 2011

Correspondence on "The role of clinical response to treatment in determining pathogenicity of genomic variants" by Shen et al

scientific article published on 06 November 2020

Coupling genomics and human genetics to delineate basic mechanisms of development

scientific article

Cover Image, Volume 173A, Number 7, July 2017

Cowchock syndrome is associated with a mutation in apoptosis-inducing factor

scientific article

Current and emerging technology approaches in genomics

scientific article published on 07 January 2013

Cutaneous manifestations of proteus syndrome: correlations with general clinical severity

scientific article published in August 2004

DENND5B Regulates Intestinal Triglyceride Absorption and Body Mass

Databases of genomic variation and phenotypes: existing resources and future needs

scientific article published on 19 August 2013

Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing data

scientific article

Diagnostic clinical genome and exome sequencing

scientific article

Dispositional optimism and perceived risk interact to predict intentions to learn genome sequencing results

scientific article

Distinguishing Variant Pathogenicity From Genetic Diagnosis: How to Know Whether a Variant Causes a Condition

scientific article published in The Journal of the American Medical Association

Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders

scientific article published in 2014

Editorial comment on "Whole exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria"

Elements of morphology: general terms for congenital anomalies.

scientific article published on 3 October 2013

Elements of morphology: introduction.

scientific article published in January 2009

Elements of morphology: standard terminology for the external genitalia.

scientific article published on 6 May 2013

Elements of morphology: standard terminology for the hands and feet.

scientific article published in January 2009

Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number

scientific article published on 17 October 2016

Engagement and communication among participants in the ClinSeq Genomic Sequencing Study.

scientific article published on 20 October 2016

Epidemiology. DNA identifications after the 9/11 World Trade Center attack

scientific article

Essential role of the m2R-RGS6-IKACh pathway in controlling intrinsic heart rate variability

scientific article (publication date: 2013)

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

Evaluation of Recipients of Positive and Negative Secondary Findings Evaluations in a Hybrid CLIA-Research Sequencing Pilot

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

scientific article

Evolution of skin lesions in Proteus syndrome

scientific article

Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly

scientific article published on 4 February 2016

Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral-facial-digital anomalies

scientific article published on 19 November 2015

Exome sequencing makes medical genomics a reality

scientific article published in January 2010

Exome sequencing: the expert view

scientific article published on 14 September 2011

Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.

scientific article

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

scientific article published on 15 March 2012

Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene

scientific article

FOS expression in blood as a LDL-independent marker of statin treatment

scientific article

Factors affecting breast cancer patients' need for genetic risk information: From information insufficiency to information need

scientific article published on 24 January 2019

Family functioning mediates adaptation in caregivers of individuals with Rett syndrome

scientific article published on 18 June 2016

Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome

scientific article published on 28 May 2013

GAUDEAMUS IGITUR…In gratitude to John Carey for his stewardship of the American Journal of Medical Genetics 2001-2016.

scientific article published on 19 August 2016

GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism

scientific article

Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder?

scientific article

Genetic modifiers in human development and malformation syndromes, including chaperone proteins

scientific article

Genitourinary malformations as a feature of the Pallister-Hall syndrome

scientific article

Genomic inheritances: disclosing individual research results from whole-exome sequencing to deceased participants' relatives

scientific article

Genomic medicine in the military

scientific article published on 13 January 2016

Genomic screening for monogenic forms of diabetes

scientific article published on 20 February 2018

Gonadal mosaicism in severe Pallister-Hall syndrome.

scientific article published in January 2004

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

scientific article

Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12

scientific article

Heritable syndromes with hypothalamic hamartoma and seizures: using rare syndromes to understand more common disorders

scientific article published on December 2003

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

How do research participants perceive "uncertainty" in genome sequencing?

scientific article

Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer.

scientific article

Hypothalamic hamartomas and seizures: distinct natural history of isolated and Pallister-Hall syndrome cases

scientific article published in January 2005

Hypothesis-generating clinical genomics research and predictive medicine.

scientific article published in October 2012

Hypothesis-generating research and predictive medicine

scientific article published on July 2013

Identification of a novel LDLR mutation (c.261_262invGA, p.Trp87X): Importance of specifying DNA and protein mutations

scientific article

Identification of candidate genes involved in coronary artery calcification by transcriptome sequencing of cell lines

scientific article

Improving the rigor of mutation reports: biologic parentage and de novo mutations

scientific article

Incidental variants are critical for genomics

scientific article published on May 2013

Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations

scientific article published on June 2015

Information Avoidance Tendencies, Threat Management Resources, and Interest in Genetic Sequencing Feedback

scientific article published in August 2015

Integrating pharmacogenetic information and clinical decision support into the electronic health record

scientific article published on 03 December 2013

Integrative DNA, RNA, and protein evidence connects TREML4 to coronary artery calcification

scientific article

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

scientific article published on 15 August 2012

Intentions to share exome sequencing results with family members: exploring spousal beliefs and attitudes.

scientific article published on 23 February 2018

Interpreting secondary cardiac disease variants in an exome cohort

scientific article published on 16 July 2013

Invited editorial comment--The human phenotype of germline PIGA mutations.

scientific article

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

scientific article

Knowledge, motivations, expectations, and traits of an African, African-American, and Afro-Caribbean sequencing cohort and comparisons to the original ClinSeq cohort

scientific article published on 01 November 2018

Lack of mutation-histopathology correlation in a patient with Proteus syndrome.

scientific article published on 26 April 2016

Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination

scientific article

Long QT Syndrome and Potentially Pathogenic Genetic Variants.

scientific article published in June 2016

Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene

article

Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiency.

scientific article published on 19 September 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

Massively-parallel sequencing of genes on a single chromosome: a comparison of solution hybrid selection and flow sorting

scientific article

Medical genetic studies in the Amish: historical perspective

scientific article

Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.

scientific article

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

scientific article

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

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

Molecular characterization of co-occurring Duchenne muscular dystrophy and X-linked oculo-facio-cardio-dental syndrome in a girl.

scientific article published in June 2009

Morphological characterization of the breast in Proteus syndrome complicated by ductal carcinoma in situ.

scientific article published in January 2006

Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling Pathway

scientific article published on January 2017

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy

scientific article published on 20 February 2018

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy

scientific article published in November 2018

Mosaic disorders and the Taxonomy of Human Disease

scientific article published on 7 December 2017

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

scientific article

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

scientific article published on 6 July 2011

Mutant deoxynucleotide carrier is associated with congenital microcephaly

scientific article

Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia

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

Next-generation sequencing demands next-generation phenotyping

scientific article published on 27 March 2012

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

scientific article

OR11-6 Rare Sequence Variants in GnRH-Associated Genes May Contribute to Variable Susceptibility to Environmental Stressors in Functional Hypothalamic Amenorrhea.

scientific article published on 30 April 2019

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

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 16 February 2012

Orthopaedic Management of Leg-length Discrepancy in Proteus Syndrome: A Case Series

scientific article published on 11 January 2018

Overcalling secondary findings

scientific article published on 17 March 2016

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

scientific article

Parenting children with Proteus syndrome: experiences with, and adaptation to, courtesy stigma.

scientific article published in September 2007

Pathogenetic insights from quantification of the cerebriform connective tissue nevus in Proteus syndrome

scientific article published on 14 October 2017

Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance

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

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

scientific article published on July 2016

Phenotype matters

scientific article

Polydactyly: how many disorders and how many genes?

scientific article

Polydactyly: how many disorders and how many genes? 2010 update

scientific article

Preferences for results delivery from exome sequencing/genome sequencing

scientific article

Preliminary validation of a consumer-oriented colorectal cancer risk assessment tool compatible with the US Surgeon General's My Family Health Portrait.

scientific article

Principles for the surgical management of patients with Proteus syndrome and patients with overgrowth not meeting Proteus criteria

scientific article

Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: points to consider-a statement of the American College of Medical Genetics and Genomi

scientific article published on 11 January 2018

Progressive overgrowth of the cerebriform connective tissue nevus in patients with Proteus syndrome

scientific article published on 14 August 2010

Prophylactic anticoagulation of individuals with Proteus syndrome and COVID-19

scientific article published on 10 September 2020

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

scientific article

Proteus syndrome: Misdiagnosis with PTEN mutations ⬇️

scientific article published on November 1, 2003

RARE VARIANTS IN SORT1 ASSOCIATE WITH CORONARY ARTERY CALCIUM IN THE CLINSEQ STUDY

Radiologic manifestations of Proteus syndrome

scientific article

Reactions to clinical reinterpretation of a gene variant by participants in a sequencing study.

scientific article

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

scientific article

Recommendations for the integration of genomics into clinical practice

scientific article published on 12 May 2016

Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneity

scientific article

Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome.

scientific article published on 15 November 2018

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

scientific article

Report from the workshop on Pallister-Hall syndrome and related phenotypes

scientific article published on 01 October 1996

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

scientific article published on July 2013

Repression of AKT signaling by ARQ 092 in cells and tissues from patients with Proteus syndrome

scientific article

Research participants' attitudes towards the confidentiality of genomic sequence information

scientific article

Response to Esplin et al

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Response to Nogales-Gadea et al.

scientific article

Response to open peer commentaries on "Genomic inheritances: disclosing individual research results from whole-exome sequencing to deceased participants' relatives".

scientific article

Scrutinizing the Right Not to Know

scientific article published in January 2015

Secondary variants and human subjects research

scientific article

Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes

scientific article

Sirolimus therapy for a patient with segmental overgrowth due to a mosaic activating mutation in phosphatidylinositol-3-kinase

Somatic AKT1 mutations cause meningiomas colocalizing with a characteristic pattern of cranial hyperostosis.

scientific article published on 23 August 2016

Standard terminology for phenotypic variations: the elements of morphology project, its current progress, and future directions

scientific article published on 13 April 2012

Strategic vision for improving human health at The Forefront of Genomics

scientific article published on 28 October 2020

Surrendered autonomy for genetic screening.

scientific article published in August 2004

Systematic Evaluation of Sanger Validation of Next-Generation Sequencing Variants

scientific article published on 04 February 2016

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

scientific article

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

scientific article published on 14 July 2009

The Greig cephalopolysyndactyly syndrome

scientific article

The Nirvana fallacy and the return of results

scientific article published in January 2013

The challenges of Proteus syndrome: diagnosis and management

scientific article published on 2 August 2006

The clinical atlas of Greig cephalopolysyndactyly syndrome.

scientific article published in March 2008

The development of a clinical screening instrument for tumour predisposition syndromes in childhood cancer patients

scientific article

The new world of clinical genomics

scientific article published on November 2012

The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria

scientific article published on 2 February 2012

The pleiotropic mouse phenotype extra-toes spotting is caused by translation initiation factor Eif3c mutations and is associated with disrupted sonic hedgehog signaling

scientific article

The role of current affect, anticipated affect and spontaneous self-affirmation in decisions to receive self-threatening genetic risk information

scientific article published on 8 December 2014

Thrombosis risk factors in PIK3CA-related overgrowth spectrum and Proteus syndrome

scientific article published on 06 September 2019

Uncertainty and perceived personal control among parents of children with rare chromosome conditions: the role of genetic counseling

scientific article

Updated recommendation for the benign stand-alone ACMG/AMP criterion

Urine cell-free DNA is a biomarker for nephroblastomatosis or Wilms tumor in PIK3CA-related overgrowth spectrum (PROS).

scientific article published on 4 January 2018

Using VAAST to Identify an X-linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency.

scientific article published in August 2011

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

scientific article

Using exome data to identify malignant hyperthermia susceptibility mutations

scientific article

Validation of My Family Health Portrait for six common heritable conditions

scientific article published on June 2010

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

scientific article

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

scientific article

Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes

scientific article published on 10 November 2006

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