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List of works by David H. Ledbetter

14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome

scientific article (publication date: July 2003)

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

scientific article

A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders

scientific article published on 27 January 2016

A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort

article

A framework for the investigation of rare genetic disorders in neuropsychiatry

scientific article published on 23 September 2019

A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?

scientific article

AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).

scientific article published on 12 June 2013

Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability

scientific article

Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait

scientific article published on 06 June 2013

Allele-specific expression analysis by RNA-FISH demonstrates preferential maternal expression of UBE3A and imprint maintenance within 15q11- q13 duplications

scientific article published on July 2002

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities ⬇️

scientific article published on September 1, 2011

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

scientific article published on 19 April 2018

Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication

scientific article published on 21 May 2016

Autism and cytogenetic abnormalities: solving autism one chromosome at a time

scientific article published on April 2007

Characterizing genetic variants for clinical action

scientific article

Chromosomal Microarray Testing for Children With Unexplained Neurodevelopmental Disorders.

scientific article

Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis ⬇️

scientific article published on December 6, 2012

ClinGen's GenomeConnect registry enables patient-centered data sharing

scientific article published on 01 November 2018

ClinGen--the Clinical Genome Resource

scientific article

Clinical Genetic Testing for Familial Hypercholesterolemia

scientific article published on 01 August 2018

Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).

scientific article

Clinical outcomes of a genomic screening program for actionable genetic conditions

scientific article published on 30 June 2020

Clinical phenotype of the recurrent 1q21.1 copy-number variant

scientific article published on 11 June 2015

Common genetic variants, acting additively, are a major source of risk for autism

scientific article

Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages

scientific article

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)

Copy number variants, aneuploidies, and human disease

scientific article published on April 2015

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

scientific article published on 29 July 2020

Cryptic telomere imbalance: a 15-year update

scientific article published on November 2007

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

scientific article published on 2 December 2015

Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia ⬇️

scientific article published on November 4, 2010

Detection and calibration of microdeletions and microduplications by array-based comparative genomic hybridization and its applicability to clinical genetic testing

scientific article published in April 2005

Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence ⬇️

scientific article published on March 18, 2013

Diagnostic interpretation of array data using public databases and internet sources

scientific article

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study

scientific article published on December 2016

Diverse fates of paralogs following segmental duplication of telomeric genes

scientific article

Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements ⬇️

scientific article published on July 4, 2011

Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants

scientific article published on 26 October 2017

Electronic health record analysis identifies kidney disease as the leading risk factor for hospitalization in confirmed COVID-19 patients

scientific article published on 12 November 2020

Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing

scientific article published on 4 May 2017

Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray

scientific article published on 01 June 2008

Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers

scientific article published on 28 June 2020

Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants

scientific article published on 07 September 2018

Exome sequencing and characterization of 49,960 individuals in the UK Biobank

scientific article published on 21 October 2020

Feasibility of blood testing combined with PET-CT to screen for cancer and guide intervention

scientific article published on 28 April 2020

Frequency of truncating FLCN variants and Birt-Hogg-Dubé–associated phenotypes in a health care system population

scientific article published in 2022

Genetic [corrected] insights into the causes and classification of [corrected] cerebral palsies

scientific article published on 18 January 2012

Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease

scientific article published on 24 May 2017

Genetic identification of familial hypercholesterolemia within a single U.S. health care system

scientific article published on December 2016

Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes.

scientific article published on 13 June 2018

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

scientific article

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

scientific article

Genomic Variation: Lessons Learned from Whole-Genome CNV Analysis

scientific article published on 18 July 2014

Genomic organization of the murine Miller-Dieker/lissencephaly region: conservation of linkage with the human region

scientific article

Human Preferences for Symmetry: Subjective Experience, Cognitive Conflict and Cortical Brain Activity ⬇️

scientific article published on June 13, 2012

INTEGRATING CLINICAL LABORATORY MEASURES AND ICD-9 CODE DIAGNOSES IN PHENOME-WIDE ASSOCIATION STUDIES.

scientific article

Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population

scientific article published on 22 July 2020

Implementation of genomic medicine in a health care delivery system: a value proposition?

scientific article published on 11 March 2014

Implementing Genomic Medicine in the Clinic

Implementing genomic medicine in the clinic: the future is here

scientific article published on 10 January 2013

Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease

scientific article published on 02 March 2016

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

scientific article

Insufficient Evidence for "Autism-Specific" Genes

scientific article published on 23 April 2020

Integrated YAC Contig Map of the Prader–Willi/Angelman Region on Chromosome 15q11–q13 with Average STS Spacing of 35 kb ⬇️

scientific article published on February 1, 1998

Issues in genetic testing for ultra-rare diseases: background and introduction

scientific article published on 01 May 2008

Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene

scientific article

Long overdue: including adults with brain disorders in precision health initiatives

scientific article published on 13 June 2020

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

scientific article

Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counseling issues

scientific article published on February 2008

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

Mitotic and meiotic instability of a telomere association involving the Y chromosome

scientific article published on 01 August 2004

Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2.

scientific article published on 12 May 2014

Molecular cytogenetic analysis of telomere rearrangements

scientific article published on 20 January 2015

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

scientific article (publication date: June 2011)

Mutation screening and transmission disequilibrium study of ATP10C in autism

scientific article published in March 2002

Patient-Centered Precision Health In A Learning Health Care System: Geisinger's Genomic Medicine Experience

article

Phenome-wide association studies demonstrating pleiotropy of genetic variants within FTO with and without adjustment for body mass index

scientific article

Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes

scientific article published on 01 May 2018

Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders

scientific article published on 25 October 2019

Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32.

scientific article published in July 2003

Recommendations for the integration of genomics into clinical practice

scientific article published on 12 May 2016

Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry

scientific article published on 18 May 2021

Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3

scientific article

Report of the Banbury Summit Meeting on the evolving role of the medical geneticist, February 12-14, 2006.

scientific article published on July 2008

Response to Buxbaum et al

scientific article published on 01 November 2020

Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the Miller-Dieker syndrome (MDS) critical region in chromosome 17p13.3

article published in 1999

Segmental duplications mediate novel, clinically relevant chromosome rearrangements

scientific article published on 14 May 2009

Shift happens: family background influences clinical variability in genetic neurodevelopmental disorders

scientific article published on 9 July 2015

Strong association of de novo copy number mutations with autism

scientific article

Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females

scientific article (publication date: November 2002)

The Geisinger MyCode community health initiative: an electronic health record-linked biobank for precision medicine research.

scientific article published on 11 February 2016

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

scientific article (publication date: 2014)

The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population

scientific article

The evolution of molecular ruler analysis for characterizing telomere imbalances: from fluorescence in situ hybridization to array comparative genomic hybridization

scientific article published on September 2007

The evolutionary origin of human subtelomeric homologies--or where the ends begin

scientific article (publication date: April 2002)

The introduction of arrays in prenatal diagnosis: a special challenge

scientific article published on 16 April 2012

The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions

scientific article published in February 2015

Toward clinical genomics in everyday medicine: perspectives and recommendations

scientific article published on 25 January 2016

Towards a Universal Clinical Genomics Database: the 2012 International Standards for Cytogenomic Arrays Consortium Meeting

scientific article (publication date: June 2013)

Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome

scientific article published on 01 December 1996

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