David H. Ledbetter, Ph.D., FACMG

David H. Ledbetter Ph.D., FACMG

Professor

Department: Office of Research Affairs
Business Phone: (904) 244-9478
Business Email: David.Ledbetter@jax.ufl.edu

Board Certifications

  • Medical Genetics

Publications

2024
Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases.
American journal of human genetics.111(1):70-81[DOI] 10.1016/j.ajhg.2023.11.007.[PMID] 38091987.
2 citations·PubMed·Publisher's Site
2023
Association of Supernumerary Sex Chromosome Aneuploidies With Venous Thromboembolism.
JAMA.329(3):235-243[DOI] 10.1001/jama.2022.23897.[PMID] 36648468.
1 citations·PubMed·Publisher's Site
2023
Diagnostic Yield of Exome Sequencing in Cerebral Palsy and Implications for Genetic Testing Guidelines: A Systematic Review and Meta-analysis.
JAMA pediatrics.177(5):472-478[DOI] 10.1001/jamapediatrics.2023.0008.[PMID] 36877506.
16 citations·PubMed·Publisher's Site
2023
Letter to the editor.
Autism research : official journal of the International Society for Autism Research.16(4):678-[DOI] 10.1002/aur.2921.[PMID] 37087602.
PubMed·Publisher's Site
2023
Phenotypic shift in copy number variants: Evidence in 16p11.2 duplication syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics.25(1):151-154[DOI] 10.1016/j.gim.2022.09.011.[PMID] 36609147.
3 citations·PubMed·Publisher's Site
2023
Prevalence and Penetrance of Rare Pathogenic Variants in Neurodevelopmental Psychiatric Genes in a Health Care System Population.
The American journal of psychiatry.180(1):65-72[DOI] 10.1176/appi.ajp.22010062.[PMID] 36475376.
6 citations·PubMed·Publisher's Site
2022
Frequency of truncating FLCN variants and Birt-Hogg-Dubé-associated phenotypes in a health care system population.
Genetics in medicine : official journal of the American College of Medical Genetics.24(9):1857-1866[DOI] 10.1016/j.gim.2022.05.006.[PMID] 35639097.
9 citations·PubMed·Publisher's Site
2022
Genes To Mental Health (G2MH): A Framework to Map the Combined Effects of Rare and Common Variants on Dimensions of Cognition and Psychopathology.
The American journal of psychiatry.179(3):189-203[DOI] 10.1176/appi.ajp.2021.21040432.[PMID] 35236119.
31 citations·PubMed·Publisher's Site
2022
Medical manifestations and health care utilization among adult MyCode participants with neurodevelopmental psychiatric copy number variants.
Genetics in medicine : official journal of the American College of Medical Genetics.24(3):703-711[DOI] 10.1016/j.gim.2021.11.010.[PMID] 34906480.
2 citations·PubMed·Publisher's Site
2021
Correction to: Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants.
Genetics in medicine : official journal of the American College of Medical Genetics.23(12):2470-[DOI] 10.1038/s41436-021-01304-9.[PMID] 34646007.
PubMed·Publisher's Site
2021
Diagnostic genetic testing for neurodevelopmental psychiatric disorders: closing the gap between recommendation and clinical implementation.
Current opinion in genetics & development.68():1-8[DOI] 10.1016/j.gde.2020.12.016.[PMID] 33434711.
20 citations·PubMed·Publisher's Site
2021
Leveraging population-based exome screening to impact clinical care: The evolution of variant assessment in the Geisinger MyCode research project.
American journal of medical genetics. Part C, Seminars in medical genetics.187(1):83-94[DOI] 10.1002/ajmg.c.31887.[PMID] 33576083.
19 citations·PubMed·Publisher's Site
2021
Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy.
JAMA.325(5):467-475[DOI] 10.1001/jama.2020.26148.[PMID] 33528536.
56 citations·PubMed·Publisher's Site
2021
Population Genomic Screening for Genetic Etiologies of Neurodevelopmental/Psychiatric Disorders Demonstrates Personal Utility and Positive Participant Responses.
Journal of personalized medicine.11(5):-[DOI] 10.3390/jpm11050365.[PMID] 34062946.
6 citations·PubMed·Publisher's Site
2021
Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry.
Genetics in medicine : official journal of the American College of Medical Genetics.23(9):1738-1745[DOI] 10.1038/s41436-021-01197-8.[PMID] 34007001.
8 citations·PubMed·Publisher's Site
2020
Clinical outcomes of a genomic screening program for actionable genetic conditions.
Genetics in medicine : official journal of the American College of Medical Genetics.22(11):1874-1882[DOI] 10.1038/s41436-020-0876-4.[PMID] 32601386.
73 citations·PubMed·Publisher's Site
2020
Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders
Genetics in Medicine.22(10):1731-1732[DOI] 10.1038/s41436-020-0913-3.[PMID] 32728138.
12 citations·PubMed·Publisher's Site
2020
Electronic health record analysis identifies kidney disease as the leading risk factor for hospitalization in confirmed COVID-19 patients.
PloS one.15(11):e0242182-[DOI] 10.1371/journal.pone.0242182.[PMID] 33180868.
27 citations·PubMed·Publisher's Site
2020
Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers.
Autism research : official journal of the International Society for Autism Research.13(8):1300-1310[DOI] 10.1002/aur.2332.[PMID] 32597026.
20 citations·PubMed·Publisher's Site
2020
Exome sequencing and characterization of 49,960 individuals in the UK Biobank
Nature.586(7831):749-756[DOI] 10.1038/s41586-020-2853-0.[PMID] 33087929.
308 citations·PubMed·Publisher's Site
2020
Feasibility of blood testing combined with PET-CT to screen for cancer and guide intervention
Science.369(6499):-[DOI] 10.1126/science.abb9601.[PMID] 32345712.
319 citations·PubMed·Publisher's Site
2020
Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population.
JAMA psychiatry.77(12):1276-1285[DOI] 10.1001/jamapsychiatry.2020.2159.[PMID] 32697297.
45 citations·PubMed·Publisher's Site
2020
Insufficient Evidence for "Autism-Specific" Genes.
American journal of human genetics.106(5):587-595[DOI] 10.1016/j.ajhg.2020.04.004.[PMID] 32359473.
85 citations·PubMed·Publisher's Site
2020
Long overdue: including adults with brain disorders in precision health initiatives.
Current opinion in genetics & development.65():47-52[DOI] 10.1016/j.gde.2020.05.001.[PMID] 32544666.
11 citations·PubMed·Publisher's Site
2020
Response to Buxbaum et al.
American journal of human genetics.107(5):1004-[DOI] 10.1016/j.ajhg.2020.09.012.[PMID] 33157005.
3 citations·PubMed·Publisher's Site
2020
The impact of extraneous features on the performance of recurrent neural network models in clinical tasks.
Journal of biomedical informatics.102():103351-[DOI] 10.1016/j.jbi.2019.103351.[PMID] 31870949.
6 citations·PubMed·Publisher's Site
2019
A framework for the investigation of rare genetic disorders in neuropsychiatry
Nature Medicine.25(10):1477-1487[DOI] 10.1038/s41591-019-0581-5.[PMID] 31548702.
68 citations·PubMed·Publisher's Site
2019
Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.
Genetics in medicine : official journal of the American College of Medical Genetics.21(11):2413-2421[DOI] 10.1038/s41436-019-0554-6.[PMID] 31182824.
331 citations·PubMed·Publisher's Site
2019
Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders
Nature Communications.10(1):-[DOI] 10.1038/s41467-019-12869-0.[PMID] 31653860.
74 citations·PubMed·Publisher's Site
2018
A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort.
American journal of human genetics.103(3):328-337[DOI] 10.1016/j.ajhg.2018.07.009.[PMID] 30100086.
104 citations·PubMed·Publisher's Site
2018
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.
Genetics in medicine : official journal of the American College of Medical Genetics.20(11):1354-1364[DOI] 10.1038/gim.2018.8.[PMID] 29671837.
82 citations·PubMed·Publisher's Site
2018
ClinGen's GenomeConnect registry enables patient‐centered data sharing
Human Mutation.39(11):1668-1676[DOI] 10.1002/humu.23633.[PMID] 30311371.
22 citations·PubMed·Publisher's Site
2018
Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel.
Journal of the American College of Cardiology.72(6):662-680[DOI] 10.1016/j.jacc.2018.05.044.[PMID] 30071997.
334 citations·PubMed·Publisher's Site
2018
Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants.
Genetics in medicine : official journal of the American College of Medical Genetics.20(5):554-558[DOI] 10.1038/gim.2017.145.[PMID] 29261187.
43 citations·PubMed·Publisher's Site
2018
Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.
JAMA network open.1(5):e182140-[DOI] 10.1001/jamanetworkopen.2018.2140.[PMID] 30646163.
136 citations·PubMed·Publisher's Site
2018
Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes
Nature Communications.9(1):-[DOI] 10.1038/s41467-018-04611-z.[PMID] 29899519.
86 citations·PubMed·Publisher's Site
2018
Patient-Centered Precision Health In A Learning Health Care System: Geisinger's Genomic Medicine Experience.
Health affairs (Project Hope).37(5):757-764[DOI] 10.1377/hlthaff.2017.1557.[PMID] 29733722.
64 citations·PubMed·Publisher's Site
2018
Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes.
American journal of human genetics.102(5):874-889[DOI] 10.1016/j.ajhg.2018.03.012.[PMID] 29727688.
42 citations·PubMed·Publisher's Site
2017
Chromosomal Microarray Testing for Children With Unexplained Neurodevelopmental Disorders.
JAMA.317(24):2545-2546[DOI] 10.1001/jama.2017.7272.[PMID] 28654998.
16 citations·PubMed·Publisher's Site
2017
Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing.
Genetics in medicine : official journal of the American College of Medical Genetics.19(11):1245-1252[DOI] 10.1038/gim.2017.40.[PMID] 28471438.
36 citations·PubMed·Publisher's Site
2017
Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease.
The New England journal of medicine.377(3):211-221[DOI] 10.1056/NEJMoa1612790.[PMID] 28538136.
533 citations·PubMed·Publisher's Site
2016
A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders.
JAMA psychiatry.73(3):275-83[DOI] 10.1001/jamapsychiatry.2015.2692.[PMID] 26817790.
76 citations·PubMed·Publisher's Site
2016
Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication.
Journal of autism and developmental disorders.46(8):2734-2748[DOI] 10.1007/s10803-016-2807-4.[PMID] 27207092.
39 citations·PubMed·Publisher's Site
2016
Clinical phenotype of the recurrent 1q21.1 copy-number variant.
Genetics in medicine : official journal of the American College of Medical Genetics.18(4):341-9[DOI] 10.1038/gim.2015.78.[PMID] 26066539.
108 citations·PubMed·Publisher's Site
2016
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
JAMA psychiatry.73(1):20-30[DOI] 10.1001/jamapsychiatry.2015.2123.[PMID] 26629640.
157 citations·PubMed·Publisher's Site
2016
Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.
Science (New York, N.Y.).354(6319):-[DOI] 10.1126/science.aaf6814.[PMID] 28008009.
373 citations·PubMed·Publisher's Site
2016
Genetic identification of familial hypercholesterolemia within a single U.S. health care system.
Science (New York, N.Y.).354(6319):-[DOI] 10.1126/science.aaf7000.[PMID] 28008010.
292 citations·PubMed·Publisher's Site
2016
Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease.
The New England journal of medicine.374(12):1123-33[DOI] 10.1056/NEJMoa1510926.[PMID] 26933753.
342 citations·PubMed·Publisher's Site
2016
INTEGRATING CLINICAL LABORATORY MEASURES AND ICD-9 CODE DIAGNOSES IN PHENOME-WIDE ASSOCIATION STUDIES.
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing.21():168-79[DOI] .[PMID] 26776183.
13 citations·PubMed·Publisher's Site
2016
Recommendations for the integration of genomics into clinical practice
Genetics in Medicine.18(11):1075-1084[DOI] 10.1038/gim.2016.17.[PMID] 27171546.
106 citations·PubMed·Publisher's Site
2016
Shift happens: family background influences clinical variability in genetic neurodevelopmental disorders.
Genetics in medicine : official journal of the American College of Medical Genetics.18(4):302-4[DOI] 10.1038/gim.2015.92.[PMID] 26158229.
33 citations·PubMed·Publisher's Site
2016
The Geisinger MyCode community health initiative: an electronic health record-linked biobank for precision medicine research.
Genetics in medicine : official journal of the American College of Medical Genetics.18(9):906-13[DOI] 10.1038/gim.2015.187.[PMID] 26866580.
273 citations·PubMed·Publisher's Site
2016
Toward clinical genomics in everyday medicine: perspectives and recommendations.
Expert review of molecular diagnostics.16(5):521-32[DOI] 10.1586/14737159.2016.1146593.[PMID] 26810587.
43 citations·PubMed·Publisher's Site
2015
A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?
Biological psychiatry.77(9):775-84[DOI] 10.1016/j.biopsych.2014.09.017.[PMID] 25534755.
96 citations·PubMed·Publisher's Site
2015
ClinGen--the Clinical Genome Resource.
The New England journal of medicine.372(23):2235-42[DOI] 10.1056/NEJMsr1406261.[PMID] 26014595.
817 citations·PubMed·Publisher's Site
2015
Copy number variants, aneuploidies, and human disease.
Clinics in perinatology.42(2):227-42, vii[DOI] 10.1016/j.clp.2015.03.001.[PMID] 26042902.
40 citations·PubMed·Publisher's Site
2015
Current controversies in prenatal diagnosis 3: the ethical and counseling implications of new genomic technologies: all pregnant women should be offered prenatal diagnostic genome-wide testing for prenatally identified fetal congenital anomalies.
Prenatal diagnosis.35(1):19-22[DOI] 10.1002/pd.4531.[PMID] 25393822.
8 citations·PubMed·Publisher's Site
2015
GenomeConnect: matchmaking between patients, clinical laboratories, and researchers to improve genomic knowledge.
Human mutation.36(10):974-8[DOI] 10.1002/humu.22838.[PMID] 26178529.
50 citations·PubMed·Publisher's Site
2015
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.
Neuron.87(6):1215-1233[DOI] 10.1016/j.neuron.2015.09.016.[PMID] 26402605.
902 citations·PubMed·Publisher's Site
2015
Molecular cytogenetic analysis of telomere rearrangements.
Current protocols in human genetics.84():8.11.1-8.11.15[DOI] 10.1002/0471142905.hg0811s84.[PMID] 25599669.
2 citations·PubMed·Publisher's Site
2015
The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population.
Biological psychiatry.77(9):785-93[DOI] 10.1016/j.biopsych.2014.04.021.[PMID] 25064419.
173 citations·PubMed·Publisher's Site
2015
The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions.
JAMA psychiatry.72(2):119-26[DOI] 10.1001/jamapsychiatry.2014.2147.[PMID] 25493922.
103 citations·PubMed·Publisher's Site
2014
AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).
European journal of human genetics : EJHG.22(3):363-8[DOI] 10.1038/ejhg.2013.135.[PMID] 23756445.
35 citations·PubMed·Publisher's Site
2014
Characterizing genetic variants for clinical action.
American journal of medical genetics. Part C, Seminars in medical genetics.166C(1):93-104[DOI] 10.1002/ajmg.c.31386.[PMID] 24634402.
38 citations·PubMed·Publisher's Site
2014
Genomic Variation: Lessons Learned from Whole-Genome CNV Analysis.
Current genetic medicine reports.2(3):146-150[DOI] .[PMID] 25152847.
11 citations·PubMed·Publisher's Site
2014
Implementation of genomic medicine in a health care delivery system: a value proposition?
American journal of medical genetics. Part C, Seminars in medical genetics.166C(1):112-6[DOI] 10.1002/ajmg.c.31392.[PMID] 24619641.
12 citations·PubMed·Publisher's Site
2014
Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2.
Autism research : official journal of the International Society for Autism Research.7(3):355-62[DOI] 10.1002/aur.1378.[PMID] 24821083.
50 citations·PubMed·Publisher's Site
2014
Phenome-wide association studies demonstrating pleiotropy of genetic variants within FTO with and without adjustment for body mass index.
Frontiers in genetics.5():250-[DOI] 10.3389/fgene.2014.00250.[PMID] 25177340.
56 citations·PubMed·Publisher's Site
2014
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.
Nucleic acids research.42(Database issue):D966-74[DOI] 10.1093/nar/gkt1026.[PMID] 24217912.
495 citations·PubMed·Publisher's Site
2014
The struggle to find reliable results in exome sequencing data: filtering out Mendelian errors.
Frontiers in genetics.5():16-[DOI] 10.3389/fgene.2014.00016.[PMID] 24575121.
37 citations·PubMed·Publisher's Site
2013
Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait.
Biological psychiatry.74(8):576-84[DOI] 10.1016/j.biopsych.2013.04.018.[PMID] 23746936.
54 citations·PubMed·Publisher's Site
2013
Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence.
The Lancet. Neurology.12(4):406-14[DOI] 10.1016/S1474-4422(13)70011-5.[PMID] 23518333.
209 citations·PubMed·Publisher's Site
2013
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.
Nature genetics.45(9):984-94[DOI] 10.1038/ng.2711.[PMID] 23933821.
1584 citations·PubMed·Publisher's Site
2013
Implementing genomic medicine in the clinic: the future is here.
Genetics in medicine : official journal of the American College of Medical Genetics.15(4):258-67[DOI] 10.1038/gim.2012.157.[PMID] 23306799.
371 citations·PubMed·Publisher's Site
2013
Towards a Universal Clinical Genomics Database: the 2012 International Standards for Cytogenomic Arrays Consortium Meeting.
Human mutation.34(6):915-9[DOI] 10.1002/humu.22306.[PMID] 23463607.
22 citations·PubMed·Publisher's Site
2013
Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts.
Molecular psychiatry.18(10):1090-5[DOI] 10.1038/mp.2012.138.[PMID] 23044707.
117 citations·PubMed·Publisher's Site
2012
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.
Journal of medical genetics.49(10):660-8[DOI] 10.1136/jmedgenet-2012-101203.[PMID] 23054248.
197 citations·PubMed·Publisher's Site
2012
Chromosomal microarray versus karyotyping for prenatal diagnosis.
The New England journal of medicine.367(23):2175-84[DOI] 10.1056/NEJMoa1203382.[PMID] 23215555.
851 citations·PubMed·Publisher's Site
2012
Common genetic variants, acting additively, are a major source of risk for autism.
Molecular autism.3(1):9-[DOI] 10.1186/2040-2392-3-9.[PMID] 23067556.
277 citations·PubMed·Publisher's Site
2012
Diagnostic interpretation of array data using public databases and internet sources.
Human mutation.33(6):930-40[DOI] 10.1002/humu.22049.[PMID] 26285306.
79 citations·PubMed·Publisher's Site
2012
Genetic [corrected] insights into the causes and classification of [corrected] cerebral palsies.
The Lancet. Neurology.11(3):283-92[DOI] 10.1016/S1474-4422(11)70287-3.[PMID] 22261432.
90 citations·PubMed·Publisher's Site
2012
Human preferences for symmetry: subjective experience, cognitive conflict and cortical brain activity.
PloS one.7(6):e38966-[DOI] 10.1371/journal.pone.0038966.[PMID] 22720004.
10 citations·PubMed·Publisher's Site
2012
The introduction of arrays in prenatal diagnosis: a special challenge.
Human mutation.33(6):923-9[DOI] 10.1002/humu.22050.[PMID] 22508381.
54 citations·PubMed·Publisher's Site
2012
Towards an evidence-based process for the clinical interpretation of copy number variation.
Clinical genetics.81(5):403-12[DOI] 10.1111/j.1399-0004.2011.01818.x.[PMID] 22097934.
79 citations·PubMed·Publisher's Site
2011
Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability.
Journal of medical genetics.48(2):141-4[DOI] 10.1136/jmg.2010.082263.[PMID] 20972249.
129 citations·PubMed·Publisher's Site
2011
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.
Genetics in medicine : official journal of the American College of Medical Genetics.13(9):777-84[DOI] 10.1097/GIM.0b013e31822c79f9.[PMID] 21844811.
326 citations·PubMed·Publisher's Site
2011
Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.
Human molecular genetics.20(19):3769-78[DOI] 10.1093/hmg/ddr293.[PMID] 21729882.
32 citations·PubMed·Publisher's Site
2011
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Neuron.70(5):863-85[DOI] 10.1016/j.neuron.2011.05.002.[PMID] 21658581.
907 citations·PubMed·Publisher's Site
2010
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
American journal of human genetics.86(5):749-64[DOI] 10.1016/j.ajhg.2010.04.006.[PMID] 20466091.
1819 citations·PubMed·Publisher's Site
2010
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.
American journal of human genetics.87(5):618-30[DOI] 10.1016/j.ajhg.2010.10.004.[PMID] 21055719.
234 citations·PubMed·Publisher's Site
2009
"New microdeletion syndromes: complex, but no new paradigms".
Journal of medical genetics.46(8):576-[DOI] 10.1136/jmg.2009.068916.[PMID] 19648125.
2 citations·PubMed·Publisher's Site
2009
Chaos in the embryo.
Nature medicine.15(5):490-1[DOI] 10.1038/nm0509-490.[PMID] 19424206.
26 citations·PubMed·Publisher's Site
2009
Segmental duplications mediate novel, clinically relevant chromosome rearrangements.
Human molecular genetics.18(16):2957-62[DOI] 10.1093/hmg/ddp233.[PMID] 19443486.
53 citations·PubMed·Publisher's Site
2008
Cytogenetic technology--genotype and phenotype.
The New England journal of medicine.359(16):1728-30[DOI] 10.1056/NEJMe0806570.[PMID] 18784093.
31 citations·PubMed·Publisher's Site
2008
Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray.
Genetics in medicine : official journal of the American College of Medical Genetics.10(6):415-29[DOI] 10.1097/GIM.0b013e318177015c.[PMID] 18496225.
127 citations·PubMed·Publisher's Site
2008
Gene patenting and licensing: the role of academic researchers and advocacy groups.
Genetics in medicine : official journal of the American College of Medical Genetics.10(5):314-9[DOI] 10.1097/GIM.0b013e3181729dab.[PMID] 18496028.
7 citations·PubMed·Publisher's Site
2008
Issues in genetic testing for ultra-rare diseases: background and introduction.
Genetics in medicine : official journal of the American College of Medical Genetics.10(5):309-13[DOI] 10.1097/GIM.0b013e3181729d99.[PMID] 18496027.
6 citations·PubMed·Publisher's Site
2008
Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene.
American journal of human genetics.82(1):150-9[DOI] 10.1016/j.ajhg.2007.09.005.[PMID] 18179893.
585 citations·PubMed·Publisher's Site
2008
Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counseling issues.
American journal of human genetics.82(2):398-410[DOI] 10.1016/j.ajhg.2007.10.013.[PMID] 18252220.
66 citations·PubMed·Publisher's Site
2008
Molecular cytogenetic and clinical findings in a patient with a small supernumerary r(8) mosaicism.
American journal of medical genetics. Part A.146A(2):247-50[DOI] .[PMID] 18076101.
7 citations·PubMed·Publisher's Site
2008
Molecular genetic testing for ultra rare diseases: models for translation from the research laboratory to the CLIA-certified diagnostic laboratory.
Genetics in medicine : official journal of the American College of Medical Genetics.10(5):332-6[DOI] 10.1097/GIM.0b013e318172838d.[PMID] 18496031.
15 citations·PubMed·Publisher's Site
2008
Report of the Banbury Summit Meeting on the evolving role of the medical geneticist, February 12-14, 2006.
Genetics in medicine : official journal of the American College of Medical Genetics.10(7):502-7[DOI] .[PMID] 18580691.
13 citations·PubMed·Publisher's Site
2007
Autism and cytogenetic abnormalities: solving autism one chromosome at a time.
Current psychiatry reports.9(2):141-7[DOI] .[PMID] 17389126.
18 citations·PubMed·Publisher's Site
2007
Cryptic telomere imbalance: a 15-year update.
American journal of medical genetics. Part C, Seminars in medical genetics.145C(4):327-34[DOI] .[PMID] 17910073.
34 citations·PubMed·Publisher's Site
2007
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Nature genetics.39(3):319-28[DOI] .[PMID] 17322880.
990 citations·PubMed·Publisher's Site
2007
Strong association of de novo copy number mutations with autism.
Science (New York, N.Y.).316(5823):445-9[DOI] .[PMID] 17363630.
1933 citations·PubMed·Publisher's Site
2007
The evolution of molecular ruler analysis for characterizing telomere imbalances: from fluorescence in situ hybridization to array comparative genomic hybridization.
Genetics in medicine : official journal of the American College of Medical Genetics.9(9):566-73[DOI] .[PMID] 17873644.
8 citations·PubMed·Publisher's Site
2006
Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities.
Journal of medical genetics.43(6):478-89[DOI] .[PMID] 16199540.
275 citations·PubMed·Publisher's Site
2005
Detection and calibration of microdeletions and microduplications by array-based comparative genomic hybridization and its applicability to clinical genetic testing.
Genetics in medicine : official journal of the American College of Medical Genetics.7(4):264-71[DOI] .[PMID] 15834244.
20 citations·PubMed·Publisher's Site
2005
Distinct phenotype associated with a cryptic subtelomeric deletion of 19p13.3-pter.
American journal of medical genetics. Part A.136(1):38-44[DOI] .[PMID] 15937949.
34 citations·PubMed·Publisher's Site
2005
The dynamic nature and evolutionary history of subtelomeric and pericentromeric regions.
Cytogenetic and genome research.108(1-3):22-5[DOI] .[PMID] 15545712.
10 citations·PubMed·Publisher's Site
2004
Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages.
American journal of human genetics.74(6):1168-74[DOI] .[PMID] 15127362.
156 citations·PubMed·Publisher's Site
2004
Diverse fates of paralogs following segmental duplication of telomeric genes.
Genomics.84(2):239-47[DOI] .[PMID] 15233989.
16 citations·PubMed·Publisher's Site
2004
Mitotic and meiotic instability of a telomere association involving the Y chromosome.
American journal of medical genetics. Part A.129A(2):120-3[DOI] .[PMID] 15316974.
13 citations·PubMed·Publisher's Site
2003
14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome.
Nature genetics.34(3):274-85[DOI] .[PMID] 12796778.
312 citations·PubMed·Publisher's Site
2003
Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23.
Genomics.82(2):238-44[DOI] .[PMID] 12837273.
66 citations·PubMed·Publisher's Site
2003
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.
European journal of human genetics : EJHG.11(7):527-34[DOI] .[PMID] 12825074.
31 citations·PubMed·Publisher's Site
2003
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.
American journal of human genetics.72(4):918-30[DOI] .[PMID] 12621583.
165 citations·PubMed·Publisher's Site
2002
"Molecular rulers" for calibrating phenotypic effects of telomere imbalance.
Journal of medical genetics.39(10):734-40[DOI] .[PMID] 12362030.
68 citations·PubMed·Publisher's Site
2002
Allele-specific expression analysis by RNA-FISH demonstrates preferential maternal expression of UBE3A and imprint maintenance within 15q11- q13 duplications.
Human molecular genetics.11(15):1707-18[DOI] .[PMID] 12095913.
57 citations·PubMed·Publisher's Site
2002
Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).
Human mutation.19(1):4-15[DOI] .[PMID] 11754098.
86 citations·PubMed·Publisher's Site
2002
Mutation screening and transmission disequilibrium study of ATP10C in autism.
American journal of medical genetics.114(2):137-43[DOI] .[PMID] 11857573.
22 citations·PubMed·Publisher's Site
2002
Organisation of the pericentromeric region of chromosome 15: at least four partial gene copies are amplified in patients with a proximal duplication of 15q.
Journal of medical genetics.39(3):170-7[DOI] .[PMID] 11897815.
37 citations·PubMed·Publisher's Site
2002
Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females.
Brain : a journal of neurology.125(Pt 11):2507-22[DOI] .[PMID] 12390976.
77 citations·PubMed·Publisher's Site
2002
The evolutionary origin of human subtelomeric homologies--or where the ends begin.
American journal of human genetics.70(4):972-84[DOI] .[PMID] 11875757.
36 citations·PubMed·Publisher's Site
2001
American College of Medical Genetics statement of diagnostic testing for uniparental disomy.
Genetics in medicine : official journal of the American College of Medical Genetics.3(3):206-11[DOI] .[PMID] 11388763.
77 citations·PubMed·Publisher's Site
2001
Further evidence for linkage of Gilles de la Tourette syndrome (GTS) susceptibility loci on chromosomes 2p11, 8q22 and 11q23-24 in South African Afrikaners.
American journal of medical genetics.105(2):163-7[DOI] .[PMID] 11304830.
47 citations·PubMed·Publisher's Site
2001
Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene.
Neurology.57(2):327-30[DOI] .[PMID] 11468322.
20 citations·PubMed·Publisher's Site
2001
LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.
Neurology.57(3):416-22[DOI] .[PMID] 11502906.
37 citations·PubMed·Publisher's Site
2001
LIS1: from cortical malformation to essential protein of cellular dynamics.
Trends in neurosciences.24(9):489-92[DOI] .[PMID] 11506866.
31 citations·PubMed·Publisher's Site
2001
Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14.
Journal of medical genetics.38(1):26-34[DOI] .[PMID] 11134237.
65 citations·PubMed·Publisher's Site
2001
Molecular cytogenetic analysis of telomere rearrangements.
Current protocols in human genetics.Chapter 8():Unit 8.11-[DOI] 10.1002/0471142905.hg0811s24.[PMID] 18428312.
PubMed·Publisher's Site
2001
Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia.
European journal of human genetics : EJHG.9(1):5-12[DOI] .[PMID] 11175293.
109 citations·PubMed·Publisher's Site
2001
Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements.
American journal of human genetics.68(4):874-83[DOI] .[PMID] 11231899.
286 citations·PubMed·Publisher's Site
2001
The human aminophospholipid-transporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expression.
American journal of human genetics.68(6):1501-5[DOI] .[PMID] 11353404.
70 citations·PubMed·Publisher's Site
2000
An optimized set of human telomere clones for studying telomere integrity and architecture.
American journal of human genetics.67(2):320-32[DOI] .[PMID] 10869233.
242 citations·PubMed·Publisher's Site
2000
Breakpoint sequences of an 1;8 translocation in a family with Gilles de la Tourette syndrome.
European journal of human genetics : EJHG.8(11):875-83[DOI] .[PMID] 11093278.
27 citations·PubMed·Publisher's Site
2000
Inverted duplication of the distal short arm of chromosome 3 associated with lobar holoprosencephaly and lumbosacral meningomyelocele.
American journal of medical genetics.91(3):167-70[DOI] .[PMID] 10756335.
20 citations·PubMed·Publisher's Site
2000
Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis.
Molecular medicine today.6(7):277-84[DOI] .[PMID] 10859564.
15 citations·PubMed·Publisher's Site
2000
Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities.
American journal of human genetics.67(6):1586-91[DOI] .[PMID] 11038325.
28 citations·PubMed·Publisher's Site
2000
Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15.
Clinical genetics.57(5):349-58[DOI] .[PMID] 10852369.
46 citations·PubMed·Publisher's Site
2000
The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.
Human molecular genetics.9(20):3019-28[DOI] .[PMID] 11115846.
84 citations·PubMed·Publisher's Site
1999
Characterization of physical gap sizes at human telomeres.
Genome research.9(9):888-94[DOI] .[PMID] 10508848.
18 citations·PubMed·Publisher's Site
1999
Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly.
Neurology.53(2):270-7[DOI] .[PMID] 10430413.
156 citations·PubMed·Publisher's Site
1999
Endoscopic evaluation of the esophagus in infants and children immediately following intraoperative use of transesophageal echocardiography.
Chest.116(5):1247-50[DOI] .[PMID] 10559082.
34 citations·PubMed·Publisher's Site
1999
Genomic structure, chromosomal mapping, and expression pattern of human DCAMKL1 (KIAA0369), a homologue of DCX (XLIS).
Genomics.56(2):179-83[DOI] .[PMID] 10051403.
33 citations·PubMed·Publisher's Site
1999
Intrauterine growth retardation associated with maternal uniparental disomy for chromosome 6 unmasked by congenital adrenal hyperplasia.
Pediatric research.46(5):510-3[DOI] .[PMID] 10541311.
30 citations·PubMed·Publisher's Site
1999
Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).
Human molecular genetics.8(6):1025-37[DOI] .[PMID] 10332034.
195 citations·PubMed·Publisher's Site
1999
Molecular cloning and characterization of the human NUDC gene.
Human genetics.104(6):498-504[DOI] .[PMID] 10453739.
18 citations·PubMed·Publisher's Site
1999
Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the Miller-Dieker syndrome (MDS) critical region in chromosome 17p13.3.
American journal of medical genetics.85(4):369-75[DOI] .[PMID] 10398263.
4 citations·PubMed·Publisher's Site
1999
Satellited chromosome 10 detected prenatally in a fetus and confirmed as mosaic in a parent.
Prenatal diagnosis.19(11):1088-9[DOI] .[PMID] 10589072.
11 citations·PubMed·Publisher's Site
1999
Significance of genetic testing for paternal uniparental disomy of chromosome 6 in neonatal diabetes mellitus.
The Journal of pediatrics.134(1):42-6[DOI] .[PMID] 9880447.
32 citations·PubMed·Publisher's Site
1999
Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1.
Human molecular genetics.8(9):1757-60[DOI] .[PMID] 10441340.
101 citations·PubMed·Publisher's Site
1999
The effect of the duration and structure of a surgery clerkship on student performance.
The Journal of surgical research.84(1):106-11[DOI] .[PMID] 10334898.
35 citations·PubMed·Publisher's Site
1999
The spectrum of mutations in UBE3A causing Angelman syndrome.
Human molecular genetics.8(1):129-35[DOI] .[PMID] 9887341.
117 citations·PubMed·Publisher's Site
1998
A simple VNTR-PCR method for detecting maternal cell contamination in prenatal diagnosis.
Genetic testing.2(4):347-50[DOI] .[PMID] 10464615.
17 citations·PubMed·Publisher's Site
1998
Assignment1 of the bystin gene BYSL to human chromosome band 6p21.1 by in situ hybridization.
Cytogenetics and cell genetics.83(1-2):76-7[DOI] .[PMID] 9925933.
6 citations·PubMed·Publisher's Site
1998
Chromosome 20 ring: a chromosomal disorder associated with a particular electroclinical pattern.
Epilepsia.39(9):942-51[DOI] .[PMID] 9738673.
59 citations·PubMed·Publisher's Site
1998
Classical lissencephaly syndromes: does the face reflect the brain?
Journal of medical genetics.35(11):920-3[DOI] .[PMID] 9832039.
17 citations·PubMed·Publisher's Site
1998
Comparative genomic hybridization: a comparison with molecular and cytogenetic analysis.
Cancer genetics and cytogenetics.100(2):93-105[DOI] .[PMID] 9428351.
23 citations·PubMed·Publisher's Site
1998
Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence.
Genetics in medicine : official journal of the American College of Medical Genetics.1(1):29-33[DOI] .[PMID] 11261426.
39 citations·PubMed·Publisher's Site
1998
Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality.
Nature genetics.19(4):333-9[DOI] .[PMID] 9697693.
470 citations·PubMed·Publisher's Site
1998
Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb.
Genome research.8(2):146-57[DOI] .[PMID] 9477342.
50 citations·PubMed·Publisher's Site
1998
Isolation of BAC clones spanning the Xq22.3 translocation breakpoint in a lissencephaly patient with a de novo X;2 translocation.
Journal of medical genetics.35(10):829-32[DOI] .[PMID] 9783706.
8 citations·PubMed·Publisher's Site
1998
LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.
Human molecular genetics.7(13):2029-37[DOI] .[PMID] 9817918.
270 citations·PubMed·Publisher's Site
1998
Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination.
Human molecular genetics.7(6):1011-9[DOI] .[PMID] 9580665.
94 citations·PubMed·Publisher's Site
1998
Molecular screening for proximal 15q abnormalities in a mentally retarded population.
Journal of medical genetics.35(7):534-8[DOI] .[PMID] 9678696.
19 citations·PubMed·Publisher's Site
1998
The human ROX gene: genomic structure and mutation analysis in human breast tumors.
Genomics.49(2):275-82[DOI] .[PMID] 9598315.
17 citations·PubMed·Publisher's Site
1998
Two 22q telomere deletions serendipitously detected by FISH.
Journal of medical genetics.35(11):939-42[DOI] .[PMID] 9832042.
63 citations·PubMed·Publisher's Site
1997
A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.
Human molecular genetics.6(2):147-55[DOI] .[PMID] 9063734.
156 citations·PubMed·Publisher's Site
1997
Assignment of trophoblast/endometrial epithelium cell adhesion molecule trophinin gene TRO to human chromosome bands Xp11.22-->p11.21 by in situ hybridization.
Cytogenetics and cell genetics.79(1-2):123-4[DOI] .[PMID] 9533028.
17 citations·PubMed·Publisher's Site
1997
Deletion within the D17S34 locus in a primitive neuroectodermal tumor.
Cancer research.57(1):32-4[DOI] .[PMID] 8988035.
9 citations·PubMed·Publisher's Site
1997
Genomic organization of the murine Miller-Dieker/lissencephaly region: conservation of linkage with the human region.
Genome research.7(6):625-34[DOI] .[PMID] 9199935.
23 citations·PubMed·Publisher's Site
1997
Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome.
American journal of human genetics.61(1):228-31[DOI] .[PMID] 9246004.
51 citations·PubMed·Publisher's Site
1997
Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain.
Human molecular genetics.6(4):555-62[DOI] .[PMID] 9097958.
79 citations·PubMed·Publisher's Site
1997
Methylation analysis of the fragile X syndrome by PCR.
Genetic testing.1(3):151-5[DOI] .[PMID] 10464640.
38 citations·PubMed·Publisher's Site
1997
Methylation-specific PCR simplifies imprinting analysis.
Nature genetics.16(1):16-7[DOI] .[PMID] 9140389.
216 citations·PubMed·Publisher's Site
1997
Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation.
American journal of human genetics.60(1):113-20[DOI] .[PMID] 8981954.
106 citations·PubMed·Publisher's Site
1997
Neuronally-expressed necdin gene: an imprinted candidate gene in Prader-Willi syndrome.
Lancet (London, England).350(9090):1520-1[DOI] .[PMID] 9388406.
43 citations·PubMed·Publisher's Site
1997
Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome.
Human molecular genetics.6(2):157-64[DOI] .[PMID] 9063735.
245 citations·PubMed·Publisher's Site
1997
Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes.
Human genetics.99(1):11-7[DOI] .[PMID] 9003485.
94 citations·PubMed·Publisher's Site
1997
Rox, a novel bHLHZip protein expressed in quiescent cells that heterodimerizes with Max, binds a non-canonical E box and acts as a transcriptional repressor.
The EMBO journal.16(10):2892-906[DOI] .[PMID] 9184233.
125 citations·PubMed·Publisher's Site
1997
The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region.
Genome research.7(4):368-77[DOI] .[PMID] 9110176.
90 citations·PubMed·Publisher's Site
1996
14-3-3 epsilon has no homology to LIS1 and lies telomeric to it on chromosome 17p13.3 outside the Miller-Dieker syndrome chromosome region.
Genome research.6(8):735-41[DOI] .[PMID] 8858348.
22 citations·PubMed·Publisher's Site
1996
A 5-year-old white girl with Prader-Willi syndrome and a submicroscopic deletion of chromosome 15q11q13.
American journal of medical genetics.65(2):137-41[DOI] .[PMID] 8911606.
24 citations·PubMed·Publisher's Site
1996
A YAC contig of the human CC chemokine genes clustered on chromosome 17q11.2.
Genomics.34(2):236-40[DOI] .[PMID] 8661057.
104 citations·PubMed·Publisher's Site
1996
Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis.
Journal of medical genetics.33(12):1011-4[DOI] .[PMID] 9004133.
34 citations·PubMed·Publisher's Site
1996
Cytogenetic and age-dependent risk factors associated with uniparental disomy 15.