David H Ledbetter

David H Ledbetter, Ph.D.

Adjunct Faculty

Department: MD-PSYCHIATRY
Business Phone: (404) 272-4565
Business Email: ledbetter.david@ufl.edu

Board Certifications

  • Clinical Cytogenetics
    American Board of Medical Genetics and Genomics

Research Profile

Open Researcher and Contributor ID (ORCID)

0000-0001-8934-4210

Publications

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.
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.
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.
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) [DOI] 10.1038/s41436-021-01304-9. [PMID] 34646007.
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.
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.
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.
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.
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.
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.
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.
2020
Electronic health record analysis identifies kidney disease as the leading risk factor for hospitalization in confirmed COVID-19 patients.
PloS one. 15(11) [DOI] 10.1371/journal.pone.0242182. [PMID] 33180868.
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.
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.
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.
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.
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.
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.
2020
Response to Buxbaum et al.
American journal of human genetics. 107(5) [DOI] 10.1016/j.ajhg.2020.09.012. [PMID] 33157005.
2020
The impact of extraneous features on the performance of recurrent neural network models in clinical tasks.
Journal of biomedical informatics. 102 [DOI] 10.1016/j.jbi.2019.103351. [PMID] 31870949.
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.
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.
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.
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.
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.
2018
ClinGen’s GenomeConnect registry enables patient‐centered data sharing
Human Mutation. 39(11):1668-1676 [DOI] 10.1002/humu.23633. [PMID] 30311371.
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.
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.
2018
Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.
JAMA network open. 1(5) [DOI] 10.1001/jamanetworkopen.2018.2140. [PMID] 30646163.
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.
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.
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.
2017
Chromosomal Microarray Testing for Children With Unexplained Neurodevelopmental Disorders.
JAMA. 317(24):2545-2546 [DOI] 10.1001/jama.2017.7272. [PMID] 28654998.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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 [PMID] 26776183.
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.
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.
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.
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.
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.
2015
ClinGen–the Clinical Genome Resource.
The New England journal of medicine. 372(23):2235-42 [DOI] 10.1056/NEJMsr1406261. [PMID] 26014595.
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.
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.
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.
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.
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.
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.
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.
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.
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.
2014
Genomic Variation: Lessons Learned from Whole-Genome CNV Analysis.
Current genetic medicine reports. 2:146-150 [PMID] 25152847.
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.
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.
2014
Phenome-wide association studies demonstrating pleiotropy of genetic variants within FTO with and without adjustment for body mass index.
Frontiers in genetics. 5 [DOI] 10.3389/fgene.2014.00250. [PMID] 25177340.
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.
2014
The struggle to find reliable results in exome sequencing data: filtering out Mendelian errors.
Frontiers in genetics. 5 [DOI] 10.3389/fgene.2014.00016. [PMID] 24575121.
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.
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.
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.
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.
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.
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.
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.
2012
Chromosomal microarray versus karyotyping for prenatal diagnosis.
The New England journal of medicine. 367(23):2175-84 [DOI] 10.1056/NEJMoa1203382. [PMID] 23215555.
2012
Common genetic variants, acting additively, are a major source of risk for autism.
Molecular autism. 3(1) [DOI] 10.1186/2040-2392-3-9. [PMID] 23067556.
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.
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.
2012
Human preferences for symmetry: subjective experience, cognitive conflict and cortical brain activity.
PloS one. 7(6) [DOI] 10.1371/journal.pone.0038966. [PMID] 22720004.
2012
The introduction of arrays in prenatal diagnosis: a special challenge.
Human mutation. 33(6):923-9 [DOI] 10.1002/humu.22050. [PMID] 22508381.
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.
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.
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.
2011
Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.
Human molecular genetics. 20(19):3769-78 [DOI] 10.1093/hmg/ddr293. [PMID] 21729882.
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.
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.
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.
2009
“New microdeletion syndromes: complex, but no new paradigms”.
Journal of medical genetics. 46(8) [DOI] 10.1136/jmg.2009.068916. [PMID] 19648125.
2009
Chaos in the embryo.
Nature medicine. 15(5):490-1 [DOI] 10.1038/nm0509-490. [PMID] 19424206.
2009
Segmental duplications mediate novel, clinically relevant chromosome rearrangements.
Human molecular genetics. 18(16):2957-62 [DOI] 10.1093/hmg/ddp233. [PMID] 19443486.
2008
Cytogenetic technology–genotype and phenotype.
The New England journal of medicine. 359(16):1728-30 [DOI] 10.1056/NEJMe0806570. [PMID] 18784093.
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.
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.
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.
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.
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.
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 [PMID] 18076101.
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.
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] 10.1097GIM.0b013e31817701fe. [PMID] 18580691.
2007
Autism and cytogenetic abnormalities: solving autism one chromosome at a time.
Current psychiatry reports. 9(2):141-7 [PMID] 17389126.
2007
Cryptic telomere imbalance: a 15-year update.
American journal of medical genetics. Part C, Seminars in medical genetics. 145C(4):327-34 [PMID] 17910073.
2007
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Nature genetics. 39(3):319-28 [PMID] 17322880.
2007
Strong association of de novo copy number mutations with autism.
Science (New York, N.Y.). 316(5823):445-9 [PMID] 17363630.
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 [PMID] 17873644.
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 [PMID] 16199540.
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 [PMID] 15834244.
2005
Distinct phenotype associated with a cryptic subtelomeric deletion of 19p13.3-pter.
American journal of medical genetics. Part A. 136(1):38-44 [PMID] 15937949.
2005
The dynamic nature and evolutionary history of subtelomeric and pericentromeric regions.
Cytogenetic and genome research. 108(1-3):22-5 [PMID] 15545712.
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 [PMID] 15127362.
2004
Diverse fates of paralogs following segmental duplication of telomeric genes.
Genomics. 84(2):239-47 [PMID] 15233989.
2004
Mitotic and meiotic instability of a telomere association involving the Y chromosome.
American journal of medical genetics. Part A. 129A(2):120-3 [PMID] 15316974.
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 [PMID] 12796778.
2003
Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23.
Genomics. 82(2):238-44 [PMID] 12837273.
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 [PMID] 12825074.
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 [PMID] 12621583.
2002
“Molecular rulers” for calibrating phenotypic effects of telomere imbalance.
Journal of medical genetics. 39(10):734-40 [PMID] 12362030.
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 [PMID] 12095913.
2002
Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).
Human mutation. 19(1):4-15 [PMID] 11754098.
2002
Mutation screening and transmission disequilibrium study of ATP10C in autism.
American journal of medical genetics. 114(2):137-43 [PMID] 11857573.
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 [PMID] 11897815.
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 [PMID] 12390976.
2002
The evolutionary origin of human subtelomeric homologies–or where the ends begin.
American journal of human genetics. 70(4):972-84 [PMID] 11875757.
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 [PMID] 11388763.
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 [PMID] 11304830.
2001
Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene.
Neurology. 57(2):327-30 [PMID] 11468322.
2001
LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.
Neurology. 57(3):416-22 [PMID] 11502906.
2001
LIS1: from cortical malformation to essential protein of cellular dynamics.
Trends in neurosciences. 24(9):489-92 [PMID] 11506866.
2001
Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14.
Journal of medical genetics. 38(1):26-34 [PMID] 11134237.
2001
Molecular cytogenetic analysis of telomere rearrangements.
Current protocols in human genetics. Chapter 8 [DOI] 10.1002/0471142905.hg0811s24. [PMID] 18428312.
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 [PMID] 11175293.
2001
Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements.
American journal of human genetics. 68(4):874-83 [PMID] 11231899.
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 [PMID] 11353404.
2000
An optimized set of human telomere clones for studying telomere integrity and architecture.
American journal of human genetics. 67(2):320-32 [PMID] 10869233.
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 [PMID] 11093278.
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 [PMID] 10756335.
2000
Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis.
Molecular medicine today. 6(7):277-84 [PMID] 10859564.
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 [PMID] 11038325.
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 [PMID] 10852369.
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 [PMID] 11115846.
1999
Characterization of physical gap sizes at human telomeres.
Genome research. 9(9):888-94 [PMID] 10508848.
1999
Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly.
Neurology. 53(2):270-7 [PMID] 10430413.
1999
Endoscopic evaluation of the esophagus in infants and children immediately following intraoperative use of transesophageal echocardiography.
Chest. 116(5):1247-50 [PMID] 10559082.
1999
Genomic structure, chromosomal mapping, and expression pattern of human DCAMKL1 (KIAA0369), a homologue of DCX (XLIS).
Genomics. 56(2):179-83 [PMID] 10051403.
1999
Intrauterine growth retardation associated with maternal uniparental disomy for chromosome 6 unmasked by congenital adrenal hyperplasia.
Pediatric research. 46(5):510-3 [PMID] 10541311.
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 [PMID] 10332034.
1999
Molecular cloning and characterization of the human NUDC gene.
Human genetics. 104(6):498-504 [PMID] 10453739.
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 [PMID] 10398263.
1999
Satellited chromosome 10 detected prenatally in a fetus and confirmed as mosaic in a parent.
Prenatal diagnosis. 19(11):1088-9 [PMID] 10589072.
1999
Significance of genetic testing for paternal uniparental disomy of chromosome 6 in neonatal diabetes mellitus.
The Journal of pediatrics. 134(1):42-6 [PMID] 9880447.
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 [PMID] 10441340.
1999
The effect of the duration and structure of a surgery clerkship on student performance.
The Journal of surgical research. 84(1):106-11 [PMID] 10334898.
1999
The spectrum of mutations in UBE3A causing Angelman syndrome.
Human molecular genetics. 8(1):129-35 [PMID] 9887341.
1998
A simple VNTR-PCR method for detecting maternal cell contamination in prenatal diagnosis.
Genetic testing. 2(4):347-50 [PMID] 10464615.
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 [PMID] 9925933.
1998
Chromosome 20 ring: a chromosomal disorder associated with a particular electroclinical pattern.
Epilepsia. 39(9):942-51 [PMID] 9738673.
1998
Classical lissencephaly syndromes: does the face reflect the brain?
Journal of medical genetics. 35(11):920-3 [PMID] 9832039.
1998
Comparative genomic hybridization: a comparison with molecular and cytogenetic analysis.
Cancer genetics and cytogenetics. 100(2):93-105 [PMID] 9428351.
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 [PMID] 11261426.
1998
Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality.
Nature genetics. 19(4):333-9 [PMID] 9697693.
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 [PMID] 9477342.
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 [PMID] 9783706.
1998
LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.
Human molecular genetics. 7(13):2029-37 [PMID] 9817918.
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 [PMID] 9580665.
1998
Molecular screening for proximal 15q abnormalities in a mentally retarded population.
Journal of medical genetics. 35(7):534-8 [PMID] 9678696.
1998
The human ROX gene: genomic structure and mutation analysis in human breast tumors.
Genomics. 49(2):275-82 [PMID] 9598315.
1998
Two 22q telomere deletions serendipitously detected by FISH.
Journal of medical genetics. 35(11):939-42 [PMID] 9832042.
1997
A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.
Human molecular genetics. 6(2):147-55 [PMID] 9063734.
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 [PMID] 9533028.
1997
Deletion within the D17S34 locus in a primitive neuroectodermal tumor.
Cancer research. 57(1):32-4 [PMID] 8988035.
1997
Genomic organization of the murine Miller-Dieker/lissencephaly region: conservation of linkage with the human region.
Genome research. 7(6):625-34 [PMID] 9199935.
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 [PMID] 9246004.
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 [PMID] 9097958.
1997
Methylation analysis of the fragile X syndrome by PCR.
Genetic testing. 1(3):151-5 [PMID] 10464640.
1997
Methylation-specific PCR simplifies imprinting analysis.
Nature genetics. 16(1):16-7 [PMID] 9140389.
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 [PMID] 8981954.
1997
Neuronally-expressed necdin gene: an imprinted candidate gene in Prader-Willi syndrome.
Lancet (London, England). 350(9090):1520-1 [PMID] 9388406.
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 [PMID] 9063735.
1997
Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes.
Human genetics. 99(1):11-7 [PMID] 9003485.
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 [PMID] 9184233.
1997
The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region.
Genome research. 7(4):368-77 [PMID] 9110176.
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 [PMID] 8858348.
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 [PMID] 8911606.
1996
A YAC contig of the human CC chemokine genes clustered on chromosome 17q11.2.
Genomics. 34(2):236-40 [PMID] 8661057.
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 [PMID] 9004133.
1996
Cytogenetic and age-dependent risk factors associated with uniparental disomy 15.
Prenatal diagnosis. 16(9):837-44 [PMID] 8905898.
1996
Fine mapping of the cystinosis gene using an integrated genetic and physical map of a region within human chromosome band 17p13.
Biochemical and molecular medicine. 58(2):135-41 [PMID] 8812732.
1996
Identification of a novel paternally expressed transcript adjacent to snRPN in the Prader-Willi syndrome critical region.
Genome research. 6(8):742-6 [PMID] 8858349.
1996
Isolation of the human chromosome 22q telomere and its application to detection of cryptic chromosomal abnormalities.
Human genetics. 97(6):765-9 [PMID] 8641694.
1996
Miller-Dieker syndrome resulting from rearrangement of a familial chromosome 17 inversion detected by fluorescence in situ hybridisation.
Journal of medical genetics. 33(1):69-72 [PMID] 8825053.
1996
Multicolor spectral karyotyping of human chromosomes.
Science (New York, N.Y.). 273(5274):494-7 [PMID] 8662537.
1996
Prenatal diagnosis of an infant with mosaic trisomy 16 of paternal origin.
Prenatal diagnosis. 16(11):1021-6 [PMID] 8953635.
1996
Prenatal diagnosis of uniparental disomy 15 following trisomy 15 mosaicism.
Prenatal diagnosis. 16(4):323-32 [PMID] 8734806.
1996
Robertsonian (15q;15q) translocation in a child with Angelman syndrome: evidence of uniparental disomy.
American journal of medical genetics. 66(4):426-8 [PMID] 8989460.
1996
Unilateral cleft lip in a boy with Angelman syndrome.
Journal of craniofacial genetics and developmental biology. 16(2):122-5 [PMID] 8773903.
1996
Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome.
American journal of medical genetics. 66(1):77-80 [PMID] 8957518.
1996
X-linked malformations of neuronal migration.
Neurology. 47(2):331-9 [PMID] 8757001.
1995
A new dinucleotide repeat polymorphism at the telomere of chromosome 21q reveals a significant difference between male and female rates of recombination.
American journal of human genetics. 57(2):388-94 [PMID] 7668265.
1995
Detection of a subtle rearrangement of chromosome 22 using molecular techniques.
American journal of medical genetics. 58(4):389-94 [PMID] 8533859.
1995
LIS2, gene and pseudogene, homologous to LIS1 (lissencephaly 1), located on the short and long arms of chromosome 2.
Genomics. 30(2):251-6 [PMID] 8586424.
1995
Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients.
American journal of human genetics. 57(1):40-8 [PMID] 7611294.
1995
Replication banding and molecular studies of a mosaic, unbalanced dic(X;15)(Xpter–>Xq26.1::15p11–>15qter).
American journal of medical genetics. 56(4):403-8 [PMID] 7604850.
1995
Spatial organization of ABR and CRK genes on human chromosome band 17p13.3.
Oncogene. 10(5):1009-11 [PMID] 7898918.
1995
Summary of the 1993 ASHG ancillary meeting “recent research on chromosome 4p syndromes and genes”.
American journal of medical genetics. 55(4):453-8 [PMID] 7762585.
1995
The human corticotropin-releasing factor receptor (CRHR) gene maps to chromosome 17q12-q22.
Genomics. 28(1):123-4 [PMID] 7590738.
1995
Tissue-specific and allele-specific replication timing control in the imprinted human Prader-Willi syndrome region.
Genes & development. 9(7):808-20 [PMID] 7705658.
1995
Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis.
Human molecular genetics. 4 Spec No:1757-64 [PMID] 8541876.
1994
A variety of genetic mechanisms are associated with the Prader-Willi syndrome.
American journal of medical genetics. 54(3):219-26 [PMID] 7810579.
1994
Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region.
Nature genetics. 8(1):52-8 [PMID] 7987392.
1994
Detailed analysis of loss of heterozygosity on chromosome band 17p13 in breast carcinoma on the basis of a high-resolution physical map with 29 markers.
Genes, chromosomes & cancer. 9(3):173-9 [PMID] 7515659.
1994
Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E).
Human molecular genetics. 3(2):309-15 [PMID] 8004100.
1994
Isochromosome 15q of maternal origin in two Prader-Willi syndrome patients previously diagnosed erroneously as cytogenetic deletions.
American journal of medical genetics. 50(1):64-7 [PMID] 7909198.
1994
Olfactory receptor gene cluster on human chromosome 17: possible duplication of an ancestral receptor repertoire.
Human molecular genetics. 3(2):229-35 [PMID] 8004088.
1993
A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene.
Genomics. 18(3):546-52 [PMID] 8307564.
1993
A somatic cell hybrid map of human chromosome 13.
Genomics. 18(3):486-95 [PMID] 8307557.
1993
Dinucleotide repeat polymorphism mapping to the critical region for lissencephaly (17p13.3).
Human molecular genetics. 2(5) [PMID] 8518813.
1993
Familial interstitial deletion 11(p11.12p12) associated with parietal foramina, brachymicrocephaly, and mental retardation.
American journal of medical genetics. 45(5):581-3 [PMID] 8456828.
1993
Genetic syndromes and uniparental disomy: a study of 16 cases of Brachmann-de Lange syndrome.
American journal of medical genetics. 47(3):383-6 [PMID] 8135286.
1993
Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats.
Nature. 364(6439):717-21 [PMID] 8355785.
1993
Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.
JAMA. 270(23):2838-42 [PMID] 7907669.
1993
Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene.
Human molecular genetics. 2(12):1991-4 [PMID] 8111365.
1993
Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy.
Human molecular genetics. 2(2):143-51 [PMID] 8499903.
1993
Nondisjunction of chromosome 15: origin and recombination.
American journal of human genetics. 53(3):740-51 [PMID] 8352279.
1992
A randomized comparison of transcervical and transabdominal chorionic-villus sampling. The U.S. National Institute of Child Health and Human Development Chorionic-Villus Sampling and Amniocentesis Study Group.
The New England journal of medicine. 327(9):594-8 [PMID] 1640952.
1992
Causal heterogeneity in isolated lissencephaly.
Neurology. 42(7):1375-88 [PMID] 1620349.
1992
Chorionic mosaicism: association with fetal loss but not with adverse perinatal outcome.
Prenatal diagnosis. 12(5):347-55 [PMID] 1523202.
1992
Congenital 21-hydroxylase deficiency as a new deletion mutation. Detection in a proband during subsequent prenatal diagnosis by HLA typing and DNA analysis.
Human immunology. 35(4):246-52 [PMID] 1293088.
1992
Cytogenetic results from the U.S. Collaborative Study on CVS.
Prenatal diagnosis. 12(5):317-45 [PMID] 1523201.
1992
Dinucleotide repeat polymorphism at the D15S11 locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15.
Human molecular genetics. 1(2) [PMID] 1301155.
1992
Dinucleotide repeat polymorphism at the GABAA receptor beta 3 (GABRB3) locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15.
Human molecular genetics. 1(1) [PMID] 1338690.
1992
First-trimester biochemical and molecular diagnoses using chorionic villi: high accuracy in the U.S. collaborative study.
Prenatal diagnosis. 12(5):357-72 [PMID] 1523203.
1992
Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A.
Nature genetics. 1(1):29-33 [PMID] 1301995.
1992
Genetic mapping of four dinucleotide repeat loci, DXS453, DXS458, DXS454, and DXS424, on the X chromosome using multiplex polymerase chain reaction.
Genomics. 13(2):375-80 [PMID] 1351869.
1992
Localization of the photoreceptor gene ROM1 to human chromosome 11 and mouse chromosome 19: sublocalization to human 11q13 between PGA and PYGM.
American journal of human genetics. 51(5):1028-35 [PMID] 1415249.
1992
Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy.
American journal of human genetics. 50(4):690-9 [PMID] 1347967.
1992
Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly.
American journal of human genetics. 50(1):182-9 [PMID] 1346078.
1992
Minireview: cryptic translocations and telomere integrity.
American journal of human genetics. 51(3):451-6 [PMID] 1496980.
1992
MRX8: an X-linked mental retardation condition with linkage to Xq21.
American journal of medical genetics. 43(1-2):467-74 [PMID] 1605227.
1992
Risk factors associated with transcervical CVS losses.
Prenatal diagnosis. 12(5):373-6 [PMID] 1523204.
1992
Spastic paraplegia with iron deposits in the basal ganglia: a new X-linked mental retardation syndrome.
American journal of medical genetics. 43(1-2):479-90 [PMID] 1605230.
1992
The ‘colorizing’ of cytogenetics: is it ready for prime time?
Human molecular genetics. 1(5):297-9 [PMID] 1303205.
1992
The CCAAT/enhancer binding protein (C/EBP alpha) gene (CEBPA) maps to human chromosome 19q13.1 and the related nuclear factor NF-IL6 (C/EBP beta) gene (CEBPB) maps to human chromosome 20q13.1.
Genomics. 14(1):12-7 [PMID] 1427819.
1992
Two hereditary defects related to vitamin D metabolism map to the same region of human chromosome 12q13-14.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 7(12):1447-53 [PMID] 1336301.
1992
X-linked lymphoproliferative disease: prenatal detection of an unaffected histocompatible male.
Clinical genetics. 42(2):76-9 [PMID] 1358486.
1991
Assignment of a human skeletal muscle sodium channel alpha-subunit gene (SCN4A) to 17q23.1-25.3.
Genomics. 9(3):555-6 [PMID] 1851726.
1991
Assignment of the human prohibitin gene (PHB) to chromosome 17 and identification of a DNA polymorphism.
Genomics. 11(1):228-30 [PMID] 1684951.
1991
Assignment of the human small inducible cytokine A2 gene, SCYA2 (encoding JE or MCP-1), to 17q11.2-12: evolutionary relatedness of cytokines clustered at the same locus.
Genomics. 10(2):489-92 [PMID] 2071154.
1991
Chromosomal assignment of a large tRNA gene cluster (tRNA(Leu), tRNA(Gln), tRNA(Lys), tRNA(Arg), tRNA(Gly)) to 17p13.1.
Human genetics. 87(2):226-30 [PMID] 2066114.
1991
Clinical and molecular diagnosis of Miller-Dieker syndrome.
American journal of human genetics. 48(3):584-94 [PMID] 1671808.
1991
Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization.
American journal of human genetics. 49(4):707-14 [PMID] 1897521.
1991
Determination of the origin of nondisjunction in a 49,XXXXY male using hypervariable dinucleotide repeat sequences.
Human genetics. 86(6):619-20 [PMID] 2026425.
1991
Di George anomaly associated with a de novo Y;22 translocation resulting in monosomy del(22)(q11.2).
American journal of medical genetics. 40(2):196-8 [PMID] 1897574.
1991
Genetic analysis of indefinite division in human cells: evidence for a cell senescence-related gene(s) on human chromosome 4.
Proceedings of the National Academy of Sciences of the United States of America. 88(13):5635-9 [PMID] 2062841.
1991
Greig syndrome associated with an interstitial deletion of 7p: confirmation of the localization of Greig syndrome to 7p13.
Human genetics. 87(4):452-6 [PMID] 1879832.
1991
Interstitial deletion of chromosome 18[del(18)(q11.2q12.2 or q12.2q21.1].
American journal of medical genetics. 41(1):15-7 [PMID] 1719812.
1991
Isodicentric X chromosome in a patient with Turner syndrome–implications for localization of the X-inactivation center.
Human genetics. 87(4):498-502 [PMID] 1879836.
1991
Isolation of a human chromosome 14-only somatic cell hybrid: analysis using Alu and LINE-based PCR.
Genomics. 11(1):215-8 [PMID] 1765380.
1991
Journal policies concerning free access to scientific materials.
American journal of medical genetics. 39(3):371-2 [PMID] 1867293.
1991
Linkage of the gene for an X-linked mental retardation disorder to a hypervariable (AGAT)n repeat motif within the human hypoxanthine phosphoribosyltransferase (HPRT) locus (Xq26).
American journal of human genetics. 49(6):1312-9 [PMID] 1746558.
1991
Localization of histidase to human chromosome region 12q22—-q24.1 and mouse chromosome region 10C2—-D1.
Cytogenetics and cell genetics. 56(3-4):178-81 [PMID] 2055114.
1991
Localization of the cellular retinoic acid binding protein (CRABP) gene relative to the acute promyelocytic leukemia-associated breakpoint on human chromosome 15.
Human genetics. 87(2):201-4 [PMID] 1648546.
1991
Localization of the X inactivation centre on the human X chromosome in Xq13.
Nature. 349(6304):82-4 [PMID] 1985270.
1991
Mapping of a cerebellar degeneration related protein and DXS304 around the fragile site.
American journal of medical genetics. 38(2-3):354-6 [PMID] 1673311.
1991
Molecular characterization of a patient with del(1)(q23-q25).
Human genetics. 87(3):269-77 [PMID] 1677922.
1991
Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4.
American journal of human genetics. 49(6):1235-42 [PMID] 1746553.
1991
New somatic cell hybrids for physical mapping in distal Xq and the fragile X region.
American journal of medical genetics. 38(2-3):418-20 [PMID] 2018083.
1991
New X-linked mental retardation disorder with Dandy-Walker malformation, basal ganglia disease, and seizures.
American journal of medical genetics. 38(2-3):200-7 [PMID] 2018058.
1991
Second international workshop on human chromosome 17.
Cytogenetics and cell genetics. 57(2-3):66-77 [PMID] 1914524.
1991
Tumor suppression by chromosome 11 is not due to cellular senescence.
Experimental cell research. 192(1):220-6 [PMID] 1670600.
1990
“PCR-karyotype” of human chromosomes in somatic cell hybrids.
Genomics. 8(4):614-22 [PMID] 2276735.
1990
A de novo X;3 translocation in Rett syndrome.
American journal of medical genetics. 35(1):148-51 [PMID] 2301468.
1990
Chromosomal assignment and regional localization of myeloperoxidase in the mouse.
Cytogenetics and cell genetics. 53(2-3):83-6 [PMID] 2164461.
1990
Cloning and characterization of the t(15;17) translocation breakpoint region in acute promyelocytic leukemia.
Genes, chromosomes & cancer. 2(2):79-87 [PMID] 2278973.
1990
Complete cDNA sequence and chromosomal localization of mouse alpha 1-antitrypsin.
Genomics. 6(1):100-4 [PMID] 2303252.
1990
Cytogenetic results of chorionic villus sampling: high success rate and diagnostic accuracy in the United States collaborative study.
American journal of obstetrics and gynecology. 162(2):495-501 [PMID] 2309837.
1990
Dinucleotide repeat polymorphisms at the D17S250 and D17S261 loci.
Nucleic acids research. 18(15) [PMID] 2388867.
1990
Five polymorphic microsatellite VNTRs on the human X chromosome.
American journal of human genetics. 46(4):776-83 [PMID] 2316523.
1990
Fluorescence in situ hybridization with Alu and L1 polymerase chain reaction probes for rapid characterization of human chromosomes in hybrid cell lines.
Proceedings of the National Academy of Sciences of the United States of America. 87(17):6634-8 [PMID] 2395866.
1990
Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17.
American journal of human genetics. 46(4):801-9 [PMID] 2316525.
1990
Human chromosome 17 NotI linking clones and their use in long-range restriction mapping of the Miller-Dieker chromosome region (MDCR) in 17p13.3.
Genomics. 7(2):264-9 [PMID] 2347590.
1990
Identification of the functional profilin gene, its localization to chromosome subband 17p13.3, and demonstration of its deletion in some patients with Miller-Dieker syndrome.
American journal of human genetics. 46(3):559-67 [PMID] 1968707.
1990
Isolation of a polymorphic DNA sequence (LL101) from the short arm of chromosome 17 [D17S251].
Nucleic acids research. 18(4) [PMID] 1969146.
1990
Molecular characterization of human and bovine rod photoreceptor cGMP phosphodiesterase alpha-subunit and chromosomal localization of the human gene.
Genomics. 6(2):272-83 [PMID] 2155175.
1990
New insights into idiopathic infantile arterial calcinosis. Three patient reports.
American journal of diseases of children (1960). 144(2):229-33 [PMID] 2405640.
1990
Rapid diagnosis of Miller-Dieker syndrome and isolated lissencephaly sequence by the polymerase chain reaction.
Human genetics. 85(5):555-9 [PMID] 2227942.
1990
Rapid isolation of DNA probes within specific chromosome regions by interspersed repetitive sequence polymerase chain reaction.
Genomics. 6(3):475-81 [PMID] 2328990.
1990
The human homolog of murine Evi-2 lies between two von Recklinghausen neurofibromatosis translocations.
Genomics. 7(4):547-54 [PMID] 2117565.
1989
Alu polymerase chain reaction: a method for rapid isolation of human-specific sequences from complex DNA sources.
Proceedings of the National Academy of Sciences of the United States of America. 86(17):6686-90 [PMID] 2771952.
1989
An anonymous single-copy clone, p55-B1, from chromosome 17 identifies a TaqI RFLP [HGM9 no. D17S86].
Nucleic acids research. 17(6) [PMID] 2565029.
1989
Characterization of a translocation within the von Recklinghausen neurofibromatosis region of chromosome 17.
Genomics. 5(2):245-9 [PMID] 2507442.
1989
Chromosome 17 deletions and p53 gene mutations in colorectal carcinomas.
Science (New York, N.Y.). 244(4901):217-21 [PMID] 2649981.
1989
Fine structure DNA mapping studies of the chromosomal region harboring the genetic defect in neurofibromatosis type I.
American journal of human genetics. 44(1):51-7 [PMID] 2562822.
1989
Integration of the transabdominal technique into an ongoing chorionic villus sampling program.
American journal of obstetrics and gynecology. 161(5):1289-94 [PMID] 2589453.
1989
Molecular dissection of a contiguous gene syndrome: frequent submicroscopic deletions, evolutionarily conserved sequences, and a hypomethylated “island” in the Miller-Dieker chromosome region.
Proceedings of the National Academy of Sciences of the United States of America. 86(13):5136-40 [PMID] 2740347.
1989
New polymorphisms at the DXS98 locus and confirmation of its location proximal to FRAXA by in situ hybridization.
American journal of human genetics. 44(2):248-54 [PMID] 2563194.
1989
Physical mapping of the von Recklinghausen neurofibromatosis region on chromosome 17.
American journal of human genetics. 44(1):58-67 [PMID] 2491783.
1989
Prader-Willi syndrome.
Neurologic clinics. 7(1):37-54 [PMID] 2646521.
1989
Precise localization of NF1 to 17q11.2 by balanced translocation.
American journal of human genetics. 44(1):20-4 [PMID] 2491776.
1989
Report of the committee on cytogenetic markers.
Cytogenetics and cell genetics. 51(1-4):452-8 [PMID] 2676381.
1989
The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities.
The New England journal of medicine. 320(10):609-17 [PMID] 2645520.
1989
Two NF1 translocations map within a 600-kilobase segment of 17q11.2.
Science (New York, N.Y.). 244(4908):1087-8 [PMID] 2543077.
1988
A common fragile site at Xq27: theoretical and practical implications.
American journal of human genetics. 42(5):694-702 [PMID] 3358421.
1988
Alteration and abnormal expression of the c-myc oncogene in human multiple myeloma.
Blood. 71(1):30-5 [PMID] 3275475.
1988
Chromosomal localization of the genes for the vitronectin and fibronectin receptors alpha subunits and for platelet glycoproteins IIb and IIIa.
The Journal of clinical investigation. 81(6):1993-8 [PMID] 2454952.
1988
Chromosome abnormalities and Williams syndrome.
American journal of medical genetics. 30(4):993-6 [PMID] 3189419.
1988
Cosmid 128 defines three RFLPs on chromosome 17q23-qter. [HGM9 no. D17S77].
Nucleic acids research. 16(13) [PMID] 2899874.
1988
Cytogenetic findings in a prospective series of patients with DiGeorge anomaly.
American journal of human genetics. 43(5):605-11 [PMID] 3189331.
1988
Highly polymorphic locus D15S24 (CMW-1) maps to 15pter-q13. [HGM9 provisional no. D15S24].
Nucleic acids research. 16(17) [PMID] 2901727.
1988
Human hepatic lipase. Cloned cDNA sequence, restriction fragment length polymorphisms, chromosomal localization, and evolutionary relationships with lipoprotein lipase and pancreatic lipase.
The Journal of biological chemistry. 263(3):1107-10 [PMID] 2447084.
1988
Localization of mouse phenylalanine hydroxylase locus on chromosome 10.
Cytogenetics and cell genetics. 47(3):125-6 [PMID] 3378451.
1988
Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6.
American journal of human genetics. 42(6):839-46 [PMID] 2897160.
1988
Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome.
American journal of human genetics. 43(5):587-96 [PMID] 3189330.
1988
Multiple congenital anomaly/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del(22q).
American journal of medical genetics. 29(4):909-15 [PMID] 3400736.
1988
Prenatal detection of 46,XY,rec(5),dup q, inv(5)(p13q33) using DNA analysis, flow cytometry, and in situ hybridization to supplement classical cytogenetic analysis.
American journal of medical genetics. 31(3):643-54 [PMID] 3228143.
1988
Prenatal diagnosis of deletion 17p13 associated with DiGeorge anomaly.
American journal of medical genetics. 31(1):1-4 [PMID] 3066218.
1988
RFLPs revealed by cosmid 131 [HGM9 no. D17S78].
Nucleic acids research. 16(13) [PMID] 2899873.
1988
Structural analysis of a hepatitis B virus genome integrated into chromosome 17p of a human hepatocellular carcinoma.
Journal of virology. 62(11):4224-31 [PMID] 2845134.
1988
Tightly linked flanking markers for the Lowe oculocerebrorenal syndrome, with application to carrier assessment.
American journal of human genetics. 42(5):748-55 [PMID] 2895982.
1988
Uniparental disomy as a mechanism for human genetic disease.
American journal of human genetics. 42(2):217-26 [PMID] 2893543.
1987
An anonymous single-copy clone, pC63, from chromosome 17q23-qter identifies a frequent RFLP [HGM9 No. D17S21].
Nucleic acids research. 15(21) [PMID] 2891104.
1987
Assignment of human tryptophan hydroxylase locus to chromosome 11: gene duplication and translocation in evolution of aromatic amino acid hydroxylases.
Somatic cell and molecular genetics. 13(5):575-80 [PMID] 2889273.
1987
Cosmid 1-26 defines four RFLPs on chromosome 17q23-qter [HGM9 No. D17S20].
Nucleic acids research. 15(21) [PMID] 2891105.
1987
Deletions of proximal 15q without Prader-Willi syndrome.
American journal of medical genetics. 28(4):813-20 [PMID] 3688019.
1987
Duplication of proximal 15q as a cause of Prader-Willi syndrome.
American journal of medical genetics. 28(4):791-802 [PMID] 3688017.
1987
Familial Prader-Willi syndrome with apparently normal chromosomes.
American journal of medical genetics. 28(1):37-43 [PMID] 3674116.
1987
Human interstitial retinol-binding protein (IRBP): cloning, partial sequence, and chromosomal localization.
Somatic cell and molecular genetics. 13(4):315-23 [PMID] 3455009.
1987
Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation.
Proceedings of the National Academy of Sciences of the United States of America. 84(18):6521-5 [PMID] 3476958.
1987
Localization of myeloperoxidase to the long arm of human chromosome 17: relationship to the 15; 17 translocation of acute promyelocytic leukemia.
Oncogene. 1(3):319-22 [PMID] 2838781.
1987
Localization of the human thyroxine-binding globulin gene to the long arm of the X chromosome (Xq21-22).
American journal of human genetics. 41(3):428-35 [PMID] 3115094.
1987
Molecular cloning and characterization of a cDNA for human granulocyte colony-stimulating factor (G-CSF) from a glioblastoma multiforme cell line and localization of the G-CSF gene to chromosome band 17q21.
Oncogene research. 1(3):209-20 [PMID] 2453015.
1987
Neonatal diagnosis of Prader-Willi syndrome and its implications.
American journal of medical genetics. 28(4):845-56 [PMID] 3688023.
1987
Prenatal diagnosis of cystic fibrosis using linked DNA markers and microvillar intestinal enzyme analysis.
Human genetics. 76(1):5-10 [PMID] 3471704.
1987
Regional mapping panel for human chromosome 17: application to neurofibromatosis type 1.
Genomics. 1(4):374-81 [PMID] 3130306.
1987
The Gardner-Silengo-Wachtel or genito-palato-cardiac syndrome: male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal cardiac defect.
American journal of medical genetics. 26(1):59-64 [PMID] 3812578.
1986
A rodent-human hybrid containing Xq24-qter translocated to a hamster chromosome expresses the Xq27 folate-sensitive fragile site.
American journal of medical genetics. 23(1-2):457-66 [PMID] 2937300.
1986
Caffeine enhances fragile (X) expression in somatic cell hybrids.
American journal of medical genetics. 23(1-2):445-55 [PMID] 2937299.
1986
Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17.
American journal of medical genetics. 23(4):853-9 [PMID] 3963054.
1986
Fragile X syndrome: a unique mutation in man.
Annual review of genetics. 20:109-45 [PMID] 3545058.
1986
Human liver fatty acid binding protein gene is located on chromosome 2.
Somatic cell and molecular genetics. 12(3):303-6 [PMID] 3012800.
1986
Implications of fragile X expression in normal males for the nature of the mutation.
Nature. 324(6093):161-3 [PMID] 3785381.
1986
Recombination and amplification of pyrimidine-rich sequences may be responsible for initiation and progression of the Xq27 fragile site: an hypothesis.
American journal of medical genetics. 23(1-2):715-21 [PMID] 3456708.
1986
Somatic cell hybrid studies of fragile (X) expression in a carrier female and transmitting male.
American journal of medical genetics. 23(1-2):429-43 [PMID] 2937298.
1986
The anonymous polymorphic DNA clone D1S1, previously mapped to human chromosome 1p36 by in situ hybridization, is from chromosome 3 and is duplicated on chromosome 1.
American journal of human genetics. 38(4):437-46 [PMID] 3010710.
1985
A new family with fra(10)(q25): spontaneous expression and 100% expression with 100 microM BrdU.
American journal of medical genetics. 21(4):643-8 [PMID] 4025395.
1985
A trisomic child after in vitro fertilization: result of paternal nondisjunction.
Fertility and sterility. 44(6):830-1 [PMID] 2416598.
1985
Fra(10)(q25): the BrdU effect is substitution-dependent.
American journal of human genetics. 37(1):208-14 [PMID] 3976659.
1985
Fragile (X) expression induced by FUdR is transient and inversely related to levels of thymidylate synthase activity.
American journal of human genetics. 37(5):947-55 [PMID] 2931977.
1985
Localization of cloned unique DNA to three different regions of chromosome 19: screen for linkage probes for myotonic dystrophy.
Journal of neurogenetics. 2(6):403-12 [PMID] 3001264.
1985
The human apolipoprotein B-100 gene: a highly polymorphic gene that maps to the short arm of chromosome 2.
Biochemical and biophysical research communications. 133(1):248-55 [PMID] 4074366.
1985
Thymidylate synthase-deficient Chinese hamster cells: a selection system for human chromosome 18 and experimental system for the study of thymidylate synthase regulation and fragile X expression.
American journal of human genetics. 37(6):1192-205 [PMID] 3002173.
1984
Familial DiGeorge syndrome and associated partial monosomy of chromosome 22.
Human genetics. 65(4):317-9 [PMID] 6693120.
1984
Human chromosomal assignments for 14 argininosuccinate synthetase pseudogenes: cloned DNAs as reagents for cytogenetic analysis.
American journal of human genetics. 36(5):954-64 [PMID] 6093508.
1984
New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.
Human genetics. 67(2):193-200 [PMID] 6745939.
1984
Organization of the HPRT gene and related sequences in the human genome.
Somatic cell and molecular genetics. 10(5):483-93 [PMID] 6089358.
1983
Cystic hygroma and hydrops fetalis in a fetus with trisomy 13.
Clinical genetics. 24(5):389-91 [PMID] 6652950.
1983
Cytogenetic comparison and phylogeny of three species of Hylobatidae.
American journal of physical anthropology. 61(4):453-66 [PMID] 6624889.
1983
Expression of the fragile (X) chromosome in an interspecific somatic cell hybrid.
Human genetics. 64(2):148-50 [PMID] 6885049.
1983
Miller-Dieker syndrome: lissencephaly and monosomy 17p.
The Journal of pediatrics. 102(4):552-8 [PMID] 6834189.
1982
Amniotic-fluid-cell-culture failure and syringe toxicity revisited.
American journal of human genetics. 34(5):823-6 [PMID] 7124736.
1982
Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases.
American journal of human genetics. 34(2):278-85 [PMID] 7072717.
1982
Failure to demonstrate self-recognition in gorillas.
American journal of primatology. 2(3):307-310 [DOI] 10.1002/ajp.1350020309. [PMID] 32192240.
1981
Deletions of chromosome 15 as a cause of the Prader-Willi syndrome.
The New England journal of medicine. 304(6):325-9 [PMID] 7442771.
1981
Phenotype associated with ring 10 chromosome: report of patient and review of literature.
American journal of medical genetics. 9(3):231-7 [PMID] 7025632.
1980
Duplication 11p11.3 leads to 14.1 to meiotic crossing–over.
American journal of medical genetics. 7(1):15-20 [PMID] 7211949.
1980
Ring chromosome 15: phenotype, Ag-NOR analysis, secondary aneuploidy, and associated chromosome instability.
Cytogenetics and cell genetics. 27(2-3):111-22 [PMID] 6156798.
Frequency of FLCN Loss of Function Variants and Birt-Hogg-Dubé-Associated Phenotypes in a Healthcare System Population
. [DOI] 10.1101/2022.01.31.22269926.

Grants

Jan 2022 – Mar 2022
Leveraging rare genetic etiologies to advance knowledge and treatment of neuropsychiatric disorders
Role: Principal Investigator
Funding: GEISINGER MEDICAL CENTER via NATL INST OF HLTH NIMH

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