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David Ledbetter

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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Co-Publications
Name
24
Dobyns, William
18
Christian, Susan
13
Martin, Christa Lese
12
Pilz, Daniela
11
Matsumoto, N
10
Sutcliffe, James
9
Beaudet, Arthur
8
Leventer, Richard
7
Lese, CM
7
Cardoso, Carlos
6
Lupski, James
6
Pergament, Eugene
6
Das, Soma
6
Fantes, Judy
5
Chung, June

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Publications

TOP 3
Baldwin Erin L; Lee Ji-Yun; Blake Douglas M; Bunke Brian P; Alexander Chad R; Kogan Amy L; Ledbetter David H; Martin Christa L
Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray.
Das S; Bale Sherri J; Ledbetter David H
Molecular genetic testing for ultra rare diseases: models for translation from the research laboratory to the CLIA-certified diagnostic laboratory.
Ledbetter David H
Gene patenting and licensing: the role of academic researchers and advocacy groups.

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All Publications

2008: Baldwin Erin L; Lee Ji-Yun; Blake Douglas M; Bunke Brian P; Alexander Chad R; Kogan Amy L; Ledbetter David H; Martin Christa L
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 2008;10(6):415-29.
2008: Das S; Bale Sherri J; Ledbetter David H
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 2008;10(5):332-6.
2008: Ledbetter David H
Gene patenting and licensing: the role of academic researchers and advocacy groups.
Genetics in medicine : official journal of the American College of Medical Genetics 2008;10(5):314-9.
2008: Ledbetter David H; Faucett W Andrew
Issues in genetic testing for ultra-rare diseases: background and introduction.
Genetics in medicine : official journal of the American College of Medical Genetics 2008;10(5):309-13.
2008: Baldwin Erin L; May Lorraine F; Justice April N; Martin Christa L; Ledbetter David H
Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counseling issues.
American journal of human genetics 2008;82(2):398-410.
2008: Alarcón Maricela; Abrahams Brett S; Stone Jennifer L; Duvall Jacqueline A; Perederiy Julia V; Bomar Jamee M; Sebat Jonathan; Wigler Michael; Martin Christa L; Ledbetter David H; Nelson Stanley F; Cantor Rita M; Geschwind Daniel H
Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene.
American journal of human genetics 2008;82(1):150-9.
2008: Bettio Daniela; Baldwin Erin L; Carrozzo Romeo; Vignoli Aglaia; May Lorraine; Venci Anna; Ledbetter David H
Molecular cytogenetic and clinical findings in a patient with a small supernumerary r(8) mosaicism.
American journal of medical genetics. Part A 2008;146A(2):247-50.
2007: Ledbetter David H; Martin Christa Lese
Cryptic telomere imbalance: a 15-year update.
American journal of medical genetics. Part C, Seminars in medical genetics 2007;145C(4):327-34.
2007: Martin Christa Lese; Nawaz Zafar; Baldwin Erin L; Wallace Elijah J; Justice April N; Ledbetter David H
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 2007;9(9):566-73.
2007: Martin Christa Lese; Ledbetter David H
Autism and cytogenetic abnormalities: solving autism one chromosome at a time.
Current psychiatry reports 2007;9(2):141-7.
2005: Archer H L; Gupta S; Enoch S; Thompson P; Rowbottom A; Chua I; Warren S; Johnson D; Ledbetter D H; Lese-Martin C; Williams P; Pilz D T
Distinct phenotype associated with a cryptic subtelomeric deletion of 19p13.3-pter.
American journal of medical genetics. Part A 2005;136(1):38-44.
2005: Wong Andrew; Lese Martin Christa; Heretis Konstantina; Ruffalo Teresa; Wilber Kim; King Walter; Ledbetter David H
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 2005;7(4):264-71.
2005: Mewborn S K; Lese Martin C; Ledbetter D H
The dynamic nature and evolutionary history of subtelomeric and pericentromeric regions.
Cytogenetic and genome research 2005;108(1-3):22-5.
2004: Huang Bing; Martin Christa Lese; Sandlin Constance J; Wang Shengbiao; Ledbetter David H
Mitotic and meiotic instability of a telomere association involving the Y chromosome.
American journal of medical genetics. Part A 2004;129A(2):120-3.
2004: Wong Andrew; Vallender Eric J; Heretis Konstantina; Ilkin Yesim; Lahn Bruce T; Martin Christa Lese; Ledbetter David H
Diverse fates of paralogs following segmental duplication of telomeric genes.
Genomics 2004;84(2):239-47.
2004: Schaeffer Anthony J; Chung June; Heretis Konstantina; Wong Andrew; Ledbetter David H; Lese Martin Christa
Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages.
American journal of human genetics 2004;74(6):1168-74.
2003: Ramocki Melissa B; Dowling James; Grinberg Inessa; Kimonis Virginia E; Cardoso Carlos; Gross Alyssa; Chung June; Martin Christa Lese; Ledbetter David H; Dobyns William B; Millen Kathleen J
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 2003;11(7):527-34.
2003: Toyo-oka Kazuhito; Shionoya Aki; Gambello Michael J; Cardoso Carlos; Leventer Richard; Ward Heather L; Ayala Ramses; Tsai Li-Huei; Dobyns William; Ledbetter David; Hirotsune Shinji; Wynshaw-Boris Anthony
14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome.
Nature genetics 2003;34(3):274-85.
2003: Cardoso Carlos; Leventer Richard J; Ward Heather L; Toyo-Oka Kazuhito; Chung June; Gross Alyssa; Martin Christa L; Allanson Judith; Pilz Daniela T; Olney Ann H; Mutchinick Osvaldo M; Hirotsune Shinji; Wynshaw-Boris Anthony; Dobyns William B; Ledbetter David H
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 2003;72(4):918-30.
2002: Martin C L; Waggoner D J; Wong A; Uhrig S; Roseberry J A; Hedrick J F; Pack S D; Russell K; Zackai E; Dobyns W B; Ledbetter D H
"Molecular rulers" for calibrating phenotypic effects of telomere imbalance.
Journal of medical genetics 2002;39(10):734-40.
2002: Herzing Laura B K; Cook Edwin H; Ledbetter David H
Allele-specific expression analysis by RNA-FISH demonstrates preferential maternal expression of UBE3A and imprint maintenance within 15q11- q13 duplications.
Human molecular genetics 2002;11(15):1707-18.
2002: Martin Christa Lese; Wong Andrew; Gross Alyssa; Chung June; Fantes Judy A; Ledbetter David H
The evolutionary origin of human subtelomeric homologies--or where the ends begin.
American journal of human genetics 2002;70(4):972-84.
2002: Fantes J A; Mewborn S K; Lese C M; Hedrick J; Brown R L; Dyomin V; Chaganti R S K; Christian S L; Ledbetter D H
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 2002;39(3):170-7.
2002: Kim Soo-Jeong; Herzing Laura B K; Veenstra-VanderWeele Jeremy; Lord Catherine; Courchesne Rachel; Leventhal Bennett L; Ledbetter David H; Courchesne Eric; Cook Edwin H
Mutation screening and transmission disequilibrium study of ATP10C in autism.
American journal of medical genetics 2002;114(2):137-43.
2002: Cardoso Carlos; Leventer Richard J; Dowling James J; Ward Heather L; Chung June; Petras Kristin S; Roseberry Jessica A; Weiss Ann M; Das Soma; Martin Christa Lese; Pilz Daniela T; Dobyns William B; Ledbetter David H
Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).
Human mutation 2002;19(1):4-15.
2001: Leventer R J; Cardoso C; Ledbetter D H; Dobyns W B
LIS1: from cortical malformation to essential protein of cellular dynamics.
Trends in neurosciences 2001;24(9):489-92.
2001: Leventer R J; Cardoso C; Ledbetter D H; Dobyns W B
LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.
Neurology 2001;57(3):416-22.
2001: Demelas L; Serra G; Conti M; Achene A; Mastropaolo C; Matsumoto N; Dudlicek L L; Mills P L; Dobyns W B; Ledbetter D H; Das S
Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene.
Neurology 2001;57(2):327-30.
2001: Herzing L B; Kim S J; Cook E H; Ledbetter D H
The human aminophospholipid-transporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expression.
American journal of human genetics 2001;68(6):1501-5.
2001: Lese C M; Ledbetter D H
Molecular cytogenetic analysis of telomere rearrangements.
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.] 2001;Chapter 8():Unit 8.11.
2001: Shaffer L G; Agan N; Goldberg J D; Ledbetter D H; Longshore J W; Cassidy S B
American College of Medical Genetics statement of diagnostic testing for uniparental disomy.
Genetics in medicine : official journal of the American College of Medical Genetics 2001;3(3):206-11.
2001: Giglio S; Broman K W; Matsumoto N; Calvari V; Gimelli G; Neumann T; Ohashi H; Voullaire L; Larizza D; Giorda R; Weber J L; Ledbetter D H; Zuffardi O
Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements.
American journal of human genetics 2001;68(4):874-83.
2001: Matsumoto N; Leventer R J; Kuc J A; Mewborn S K; Dudlicek L L; Ramocki M B; Pilz D T; Mills P L; Das S; Ross M E; Ledbetter D H; Dobyns W B
Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia.
European journal of human genetics : EJHG 2001;9(1):5-12.
2001: Ungaro P; Christian S L; Fantes J A; Mutirangura A; Black S; Reynolds J; Malcolm S; Dobyns W B; Ledbetter D H
Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14.
Journal of medical genetics 2001;38(1):26-34.
2000: Cardoso C; Leventer R J; Matsumoto N; Kuc J A; Ramocki M B; Mewborn S K; Dudlicek L L; May L F; Mills P L; Das S; Pilz D T; Dobyns W B; Ledbetter D H
The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.
Human molecular genetics 2000;9(20):3019-28.
2000: Das S; Lese C M; Song M; Jensen J L; Wells L A; Barnoski B L; Roseberry J A; Camacho J M; Ledbetter D H; Schnur R E
Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities.
American journal of human genetics 2000;67(6):1586-91.
2000: Matsumoto N; David D E; Johnson E W; Konecki D; Burmester J K; Ledbetter D H; Weber J L
Breakpoint sequences of an 1;8 translocation in a family with Gilles de la Tourette syndrome.
European journal of human genetics : EJHG 2000;8(11):875-83.
2000: Knight S J; Lese C M; Precht K S; Kuc J; Ning Y; Lucas S; Regan R; Brenan M; Nicod A; Lawrie N M; Cardy D L; Nguyen H; Hudson T J; Riethman H C; Ledbetter D H; Flint J
An optimized set of human telomere clones for studying telomere integrity and architecture.
American journal of human genetics 2000;67(2):320-32.
2000: Leventer R J; Pilz D T; Matsumoto N; Ledbetter D H; Dobyns W B
Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis.
Molecular medicine today 2000;6(7):277-84.
2000: Kennedy D; Silver M M; Winsor E J; Toi A; Provias J; Macha M; Precht K; Ledbetter D H; Chitayat D
Inverted duplication of the distal short arm of chromosome 3 associated with lobar holoprosencephaly and lumbosacral meningomyelocele.
American journal of medical genetics 2000;91(3):167-70.
1999: Storto P D; Diehn T N; O'Malley D P; Bullard B A; Netzloff M L; VanDyke D L; Feldman G L; Precht K S; Ledbetter D H; Lese C M
Satellited chromosome 10 detected prenatally in a fetus and confirmed as mosaic in a parent.
Prenatal diagnosis 1999;19(11):1088-9.
1999: Spiro R P; Christian S L; Ledbetter D H; New M I; Wilson R C; Roizen N; Rosenfield R L
Intrauterine growth retardation associated with maternal uniparental disomy for chromosome 6 unmasked by congenital adrenal hyperplasia.
Pediatric research 1999;46(5):510-3.
1999: Lese C M; Fantes J A; Riethman H C; Ledbetter D H
Characterization of physical gap sizes at human telomeres.
Genome research 1999;9(9):888-94.
1999: Pilz D T; Kuc J; Matsumoto N; Bodurtha J; Bernadi B; Tassinari C A; Dobyns W B; Ledbetter D H
Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1.
Human molecular genetics 1999;8(9):1757-60.
1999: Dobyns W B; Truwit C L; Ross M E; Matsumoto N; Pilz D T; Ledbetter D H; Gleeson J G; Walsh C A; Barkovich A J
Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly.
Neurology 1999;53(2):270-7.
1999: Matsumoto N; Ledbetter D H
Molecular cloning and characterization of the human NUDC gene.
Human genetics 1999;104(6):498-504.
1999: Christian S L; Fantes J A; Mewborn S K; Huang B; Ledbetter D H
Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).
Human molecular genetics 1999;8(6):1025-37.
1999: Matsumoto N; Pilz D T; Ledbetter D H
Genomic structure, chromosomal mapping, and expression pattern of human DCAMKL1 (KIAA0369), a homologue of DCX (XLIS).
Genomics 1999;56(2):179-83.
1999: Fang P; Lev-Lehman E; Tsai T F; Matsuura T; Benton C S; Sutcliffe J S; Christian S L; Kubota T; Halley D J; Meijers-Heijboer H; Langlois S; Graham J M; Beuten J; Willems P J; Ledbetter D H; Beaudet A L
The spectrum of mutations in UBE3A causing Angelman syndrome.
Human molecular genetics 1999;8(1):129-35.
1999: Christian S L; Rich B H; Loebl C; Israel J; Vasa R; Kittikamron K; Spiro R; Rosenfield R; Ledbetter D H
Significance of genetic testing for paternal uniparental disomy of chromosome 6 in neonatal diabetes mellitus.
The Journal of pediatrics 1999;134(1):42-6.
1998: Pilz D T; Matsumoto N; Minnerath S; Mills P; Gleeson J G; Allen K M; Walsh C A; Barkovich A J; Dobyns W B; Ledbetter D H; Ross M E
LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.
Human molecular genetics 1998;7(13):2029-37.
1998: Pilz D T; Macha M E; Precht K S; Smith A C; Dobyns W B; Ledbetter D H
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 1998;1(1):29-33.
1998: Precht K S; Lese C M; Spiro R P; Huttenlocher P R; Johnston K M; Baker J C; Christian S L; Kittikamron K; Ledbetter D H
Two 22q telomere deletions serendipitously detected by FISH.
Journal of medical genetics 1998;35(11):939-42.
1998: Matsumoto N; Pilz D T; Fantes J A; Kittikamron K; Ledbetter D H
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 1998;35(10):829-32.
1998: Hirotsune S; Fleck M W; Gambello M J; Bix G J; Chen A; Clark G D; Ledbetter D H; McBain C J; Wynshaw-Boris A
Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality.
Nature genetics 1998;19(4):333-9.
1998: Jacobsen J; King B H; Leventhal B L; Christian S L; Ledbetter D H; Cook E H
Molecular screening for proximal 15q abnormalities in a mentally retarded population.
Journal of medical genetics 1998;35(7):534-8.
1998: Christian S L; Bhatt N K; Martin S A; Sutcliffe J S; Kubota T; Huang B; Mutirangura A; Chinault A C; Beaudet A L; Ledbetter D H
Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb.
Genome research 1998;8(2):146-57.
1998: Batanian J R; Ledbetter D H; Fenwick R G
A simple VNTR-PCR method for detecting maternal cell contamination in prenatal diagnosis.
Genetic testing 1998;2(4):347-50.
1997: Sutcliffe J S; Han M; Christian S L; Ledbetter D H
Neuronally-expressed necdin gene: an imprinted candidate gene in Prader-Willi syndrome.
Lancet 1997;350(9090):1520-1.
1997: Carrozzo R; Rossi E; Christian S L; Kittikamron K; Livieri C; Corrias A; Pucci L; Fois A; Simi P; Bosio L; Beccaria L; Zuffardi O; Ledbetter D H
Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome.
American journal of human genetics 1997;61(1):228-31.
1997: Hirotsune S; Pack S D; Chong S S; Robbins C M; Pavan W J; Ledbetter D H; Wynshaw-Boris A
Genomic organization of the murine Miller-Dieker/lissencephaly region: conservation of linkage with the human region.
Genome research 1997;7(6):625-34.
1997: Sutcliffe J S; Jiang Y H; Galijaard R J; Matsuura T; Fang P; Kubota T; Christian S L; Bressler J; Cattanach B; Ledbetter D H; Beaudet A L
The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region.
Genome research 1997;7(4):368-77.
1997: Ross M E; Allen K M; Srivastava A K; Featherstone T; Gleeson J G; Hirsch B; Harding B N; Andermann E; Abdullah R; Berg M; Czapansky-Bielman D; Flanders D J; Guerrini R; Motté J; Mira A P; Scheffer I; Berkovic S; Scaravilli F; King R A; Ledbetter D H; Schlessinger D; Dobyns W B; Walsh C A
Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain.
Human molecular genetics 1997;6(4):555-62.
1997: Chong S S; Pack S D; Roschke A V; Tanigami A; Carrozzo R; Smith A C; Dobyns W B; Ledbetter D H
A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.
Human molecular genetics 1997;6(2):147-55.
1997: Huang B; Crolla J A; Christian S L; Wolf-Ledbetter M E; Macha M E; Papenhausen P N; Ledbetter D H
Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes.
Human genetics 1997;99(1):11-7.
1997: Das S; Kubota T; Song M; Daniel R; Berry-Kravis E M; Prior T W; Popovich B; Rosser L; Arinami T; Ledbetter D H
Methylation analysis of the fragile X syndrome by PCR.
Genetic testing 1997;1(3):151-5.
1997: Pack S D; Tanigami A; Ledbetter D H; Sato T; Fukuda M N
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 1997;79(1-2):123-4.
1996: Kubota T; Aradhya S; Macha M; Smith A C; Surh L C; Satish J; Verp M S; Nee H L; Johnson A; Christan S L; Ledbetter D H
Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis.
Journal of medical genetics 1996;33(12):1011-4.
1996: Kubota T; Sutcliffe J S; Aradhya S; Gillessen-Kaesbach G; Christian S L; Horsthemke B; Beaudet A L; Ledbetter D H
Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome.
American journal of medical genetics 1996;66(1):77-80.
1996: Robinson W P; Langlois S; Schuffenhauer S; Horsthemke B; Michaelis R C; Christian S; Ledbetter D H; Schinzel A
Cytogenetic and age-dependent risk factors associated with uniparental disomy 15.
Prenatal diagnosis 1996;16(9):837-44.
1996: Ning Y; Roschke A; Christian S L; Lesser J; Sutcliffe J S; Ledbetter D H
Identification of a novel paternally expressed transcript adjacent to snRPN in the Prader-Willi syndrome critical region.
Genome research 1996;6(8):742-6.
1996: Chong S S; Tanigami A; Roschke A V; Ledbetter D H
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 1996;6(8):735-41.
1996: McDowell G; Isogai T; Tanigami A; Hazelwood S; Ledbetter D; Polymeropoulos M H; Lichter-Konecki U; Konecki D; Town M M; Van't Hoff W V; Weissenbach J; Gahl W A
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 1996;58(2):135-41.
1996: Dobyns W B; Andermann E; Andermann F; Czapansky-Beilman D; Dubeau F; Dulac O; Guerrini R; Hirsch B; Ledbetter D H; Lee N S; Motte J; Pinard J M; Radtke R A; Ross M E; Tampieri D; Walsh C A; Truwit C L
X-linked malformations of neuronal migration.
Neurology 1996;47(2):331-9.
1996: Schröck E; du Manoir S; Veldman T; Schoell B; Wienberg J; Ferguson-Smith M A; Ning Y; Ledbetter D H; Bar-Am I; Soenksen D; Garini Y; Ried T
Multicolor spectral karyotyping of human chromosomes.
Science (New York, N.Y.) 1996;273(5274):494-7.
1996: Ning Y; Rosenberg M; Biesecker L G; Ledbetter D H
Isolation of the human chromosome 22q telomere and its application to detection of cryptic chromosomal abnormalities.
Human genetics 1996;97(6):765-9.
1996: Christian S L; Smith A C; Macha M; Black S H; Elder F F; Johnson J M; Resta R G; Surti U; Suslak L; Verp M S; Ledbetter D H
Prenatal diagnosis of uniparental disomy 15 following trisomy 15 mosaicism.
Prenatal diagnosis 1996;16(4):323-32.
1995: Biesecker L G; Rosenberg M; Dziadzio L; Ledbetter D H; Ning Y; Sarneso C; Rosenbaum K
Detection of a subtle rearrangement of chromosome 22 using molecular techniques.
American journal of medical genetics 1995;58(4):389-94.
1995: Christian S L; Robinson W P; Huang B; Mutirangura A; Line M R; Nakao M; Surti U; Chakravarti A; Ledbetter D H
Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients.
American journal of human genetics 1995;57(1):40-8.
1995: Scheuerle A; Zenger-Hain J L; Van Dyke D L; Ledbetter D H; Greenberg F; Shaffer L G
Replication banding and molecular studies of a mosaic, unbalanced dic(X;15)(Xpter-->Xq26.1::15p11-->15qter).
American journal of medical genetics 1995;56(4):403-8.
1995: Gunaratne P H; Nakao M; Ledbetter D H; Sutcliffe J S; Chinault A C
Tissue-specific and allele-specific replication timing control in the imprinted human Prader-Willi syndrome region.
Genes & development 1995;9(7):808-20.
1995: Ledbetter D H; Engel E
Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis.
Human molecular genetics 1995;4 Spec No():1757-64.
1994: Sutcliffe J S; Nakao M; Christian S; Orstavik K H; Tommerup N; Ledbetter D H; Beaudet A L
Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region.
Nature genetics 1994;8(1):52-8.
1994: Saitoh S; Mutirangura A; Kuwano A; Ledbetter D H; Niikawa N
Isochromosome 15q of maternal origin in two Prader-Willi syndrome patients previously diagnosed erroneously as cytogenetic deletions.
American journal of medical genetics 1994;50(1):64-7.
1994: Nakao M; Sutcliffe J S; Durtschi B; Mutirangura A; Ledbetter D H; Beaudet A L
Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E).
Human molecular genetics 1994;3(2):309-15.
1993: Mutirangura A; Jayakumar A; Sutcliffe J S; Nakao M; McKinney M J; Buiting K; Horsthemke B; Beaudet A L; Chinault A C; Ledbetter D H
A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene.
Genomics 1993;18(3):546-52.
1993: Buiting K; Dittrich B; Gross S; Greger V; Lalande M; Robinson W; Mutirangura A; Ledbetter D; Horsthemke B
Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene.
Human molecular genetics 1993;2(12):1991-4.
1993: Dobyns W B; Reiner O; Carrozzo R; Ledbetter D H
Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.
JAMA : the journal of the American Medical Association 1993;270(23):2838-42.
1993: Robinson W P; Bernasconi F; Mutirangura A; Ledbetter D H; Langlois S; Malcolm S; Morris M A; Schinzel A A
Nondisjunction of chromosome 15: origin and recombination.
American journal of human genetics 1993;53(3):740-51.
1993: Shaffer L G; Overhauser J; Jackson L G; Ledbetter D H
Genetic syndromes and uniparental disomy: a study of 16 cases of Brachmann-de Lange syndrome.
American journal of medical genetics 1993;47(3):383-6.
1993: Reiner O; Carrozzo R; Shen Y; Wehnert M; Faustinella F; Dobyns W B; Caskey C T; Ledbetter D H
Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats.
Nature 1993;364(6439):717-21.
1993: Carrozzo R; Ledbetter D H
Dinucleotide repeat polymorphism mapping to the critical region for lissencephaly (17p13.3).
Human molecular genetics 1993;2(5):615.
1993: Shaffer L G; Hecht J T; Ledbetter D H; Greenberg F
Familial interstitial deletion 11(p11.12p12) associated with parietal foramina, brachymicrocephaly, and mental retardation.
American journal of medical genetics 1993;45(5):581-3.
1993: Mutirangura A; Greenberg F; Butler M G; Malcolm S; Nicholls R D; Chakravarti A; Ledbetter D H
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 1993;2(2):143-51.
1992: Hejtmancik J F; Black S; Harris S; Ward P A; Callaway C; Ledbetter D; Morris J; Leech S H; Pollack M S
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 1992;35(4):246-52.
1992: Ledbetter D H
Minireview: cryptic translocations and telomere integrity.
American journal of human genetics 1992;51(3):451-6.
1992: Hendricks-Taylor L R; Bachinski L L; Siciliano M J; Fertitta A; Trask B; de Jong P J; Ledbetter D H; Darlington G J
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 1992;14(1):12-7.
1992: Jackson L G; Zachary J M; Fowler S E; Desnick R J; Golbus M S; Ledbetter D H; Mahoney M J; Pergament E; Simpson J L; Black S
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 1992;327(9):594-8.
1992: Ledbetter D H
The 'colorizing' of cytogenetics: is it ready for prime time?
Human molecular genetics 1992;1(5):297-9.
1992: Huang T H; Cottingham R W; Ledbetter D H; Zoghbi H Y
Genetic mapping of four dinucleotide repeat loci, DXS453, DXS458, DXS454, and DXS424, on the X chromosome using multiplex polymerase chain reaction.
Genomics 1992;13(2):375-80.
1992: Golbus M S; Simpson J L; Fowler S E; de la Cruz F; Desnick R J; Wapner R; Ledbetter D H; Lubs H; Mahoney M J; Pergament E
Risk factors associated with transcervical CVS losses.
Prenatal diagnosis 1992;12(5):373-6.
1992: Desnick R J; Schuette J L; Golbus M S; Jackson L; Lubs H A; Ledbetter D H; Mahoney M J; Pergament E; Simpson J L; Zachary J M
First-trimester biochemical and molecular diagnoses using chorionic villi: high accuracy in the U.S. collaborative study.
Prenatal diagnosis 1992;12(5):357-72.
1992: Wapner R J; Simpson J L; Golbus M S; Zachary J M; Ledbetter D H; Desnick R J; Fowler S E; Jackson L G; Lubs H; Mahony R J
Chorionic mosaicism: association with fetal loss but not with adverse perinatal outcome.
Prenatal diagnosis 1992;12(5):347-55.
1992: Ledbetter D H; Zachary J M; Simpson J L; Golbus M S; Pergament E; Jackson L; Mahoney M J; Desnick R J; Schulman J; Copeland K L
Cytogenetic results from the U.S. Collaborative Study on CVS.
Prenatal diagnosis 1992;12(5):317-45.
1992: Mutirangura A; Kuwano A; Ledbetter S A; Chinault A C; Ledbetter D H
Dinucleotide repeat polymorphism at the D15S11 locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15.
Human molecular genetics 1992;1(2):139.
1992: Pentao L; Lewis R A; Ledbetter D H; Patel P I; Lupski J R
Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy.
American journal of human genetics 1992;50(4):690-9.
1992: Mutirangura A; Ledbetter S A; Kuwano A; Chinault A C; Ledbetter D H
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 1992;1(1):67.
1992: Lupski J R; Wise C A; Kuwano A; Pentao L; Parke J T; Glaze D G; Ledbetter D H; Greenberg F; Patel P I
Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A.
Nature genetics 1992;1(1):29-33.
1992: Ledbetter S A; Kuwano A; Dobyns W B; Ledbetter D H
Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly.
American journal of human genetics 1992;50(1):182-9.
1991: Huang T H; Hejtmancik J F; Edwards A; Pettigrew A L; Herrera C A; Hammond H A; Caskey C T; Zoghbi H Y; Ledbetter D H
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 1991;49(6):1312-9.
1991: Kuwano A; Ledbetter S A; Dobyns W B; Emanuel B S; Ledbetter D H
Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization.
American journal of human genetics 1991;49(4):707-14.
1991: Surh L C; Ledbetter D H; Greenberg F
Interstitial deletion of chromosome 18[del(18)(q11.2q12.2 or q12.2q21.1].
American journal of medical genetics 1991;41(1):15-7.
1991: Mares A; Ledbetter S A; Ledbetter D H; Roberts R; Hejtmancik J F
Isolation of a human chromosome 14-only somatic cell hybrid: analysis using Alu and LINE-based PCR.
Genomics 1991;11(1):215-8.
1991: Lupski J R; Langston C; Friedman R; Ledbetter D H; Greenberg F
Di George anomaly associated with a de novo Y;22 translocation resulting in monosomy del(22)(q11.2).
American journal of medical genetics 1991;40(2):196-8.
1991: Pettigrew A L; Greenberg F; Caskey C T; Ledbetter D H
Greig syndrome associated with an interstitial deletion of 7p: confirmation of the localization of Greig syndrome to 7p13.
Human genetics 1991;87(4):452-6.
1991: Ning Y; Weber J L; Killary A M; Ledbetter D H; Smith J R; Pereira-Smith O M
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 1991;88(13):5635-9.
1991: Franco B; Lai L W; Patterson D; Ledbetter D H; Trask B J; van den Engh G; Iannaccone S; Frances S; Patel P I; Lupski J R
Molecular characterization of a patient with del(1)(q23-q25).
Human genetics 1991;87(3):269-77.
1991: Huang T H; Greenberg F; Ledbetter D H
Determination of the origin of nondisjunction in a 49,XXXXY male using hypervariable dinucleotide repeat sequences.
Human genetics 1991;86(6):619-20.
1991: Ledbetter S A; Schwartz C E; Davies K E; Ledbetter D H
New somatic cell hybrids for physical mapping in distal Xq and the fragile X region.
American journal of medical genetics 1991;38(2-3):418-20.
1991: Pettigrew A L; Jackson L G; Ledbetter D H
New X-linked mental retardation disorder with Dandy-Walker malformation, basal ganglia disease, and seizures.
American journal of medical genetics 1991;38(2-3):200-7.
1991: Ning Y; Shay J W; Lovell M; Taylor L; Ledbetter D H; Pereira-Smith O M
Tumor suppression by chromosome 11 is not due to cellular senescence.
Experimental cell research 1991;192(1):220-6.
1990: Ledbetter S A; Garcia-Heras J; Ledbetter D H
"PCR-karyotype" of human chromosomes in somatic cell hybrids.
Genomics 1990;8(4):614-22.
1990: Batanian J R; Ledbetter S A; Wolff R K; Nakamura Y; White R; Dobyns W B; Ledbetter D H
Rapid diagnosis of Miller-Dieker syndrome and isolated lissencephaly sequence by the polymerase chain reaction.
Human genetics 1990;85(5):555-9.
1990: Ledbetter S A; Wallace M R; Collins F S; Ledbetter D H
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 1990;7(2):264-9.
1990: Patel P I; Franco B; Garcia C; Slaugenhaupt S A; Nakamura Y; Ledbetter D H; Chakravarti A; Lupski J R
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 1990;46(4):801-9.
1990: Ledbetter S A; Nelson D L; Warren S T; Ledbetter D H
Rapid isolation of DNA probes within specific chromosome regions by interspersed repetitive sequence polymerase chain reaction.
Genomics 1990;6(3):475-81.
1990: Ledbetter D H; Martin A O; Verlinsky Y; Pergament E; Jackson L; Yang-Feng T; Schonberg S A; Gilbert F; Zachary J M; Barr M
Cytogenetic results of chorionic villus sampling: high success rate and diagnostic accuracy in the United States collaborative study.
American journal of obstetrics and gynecology 1990;162(2):495-501.
1990: Pittler S J; Baehr W; Wasmuth J J; McConnell D G; Champagne M S; vanTuinen P; Ledbetter D; Davis R L
Molecular characterization of human and bovine rod photoreceptor cGMP phosphodiesterase alpha-subunit and chromosomal localization of the human gene.
Genomics 1990;6(2):272-83.
1990: Patel P I; Ledbetter D H; Frances S; Franco B; Wallace M R; Collins F S; Lupski J R
Isolation of a polymorphic DNA sequence (LL101) from the short arm of chromosome 17 [D17S251]
Nucleic acids research 1990;18(4):1087.
1990: Sifers R N; Ledley F D; Reed-Fourquet L; Ledbetter D H; Ledbetter S A; Woo S L
Complete cDNA sequence and chromosomal localization of mouse alpha 1-antitrypsin.
Genomics 1990;6(1):100-4.
1990: Zoghbi H Y; Ledbetter D H; Schultz R; Percy A K; Glaze D G
A de novo X;3 translocation in Rett syndrome.
American journal of medical genetics 1990;35(1):148-51.
1990: Robinson T J; Morris D J; Ledbetter D H
Chromosomal assignment and regional localization of myeloperoxidase in the mouse.
Cytogenetics and cell genetics 1990;53(2-3):83-6.
1989: Copeland K L; Carpenter R J; Fenolio K R; Ledbetter D H
Integration of the transabdominal technique into an ongoing chorionic villus sampling program.
American journal of obstetrics and gynecology 1989;161(5):1289-94.
1989: Nelson D L; Ledbetter S A; Corbo L; Victoria M F; Ramírez-Solis R; Webster T D; Ledbetter D H; Caskey C T
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 1989;86(17):6686-90.
1989: Ledbetter D H; Ledbetter S A; vanTuinen P; Summers K M; Robinson T J; Nakamura Y; Wolff R; White R; Barker D F; Wallace M R
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 1989;86(13):5136-40.
1989: Baker S J; Fearon E R; Nigro J M; Hamilton S R; Preisinger A C; Jessup J M; vanTuinen P; Ledbetter D H; Barker D F; Nakamura Y; White R; Vogelstein B
Chromosome 17 deletions and p53 gene mutations in colorectal carcinomas.
Science (New York, N.Y.) 1989;244(4901):217-21.
1989: Rhoads G G; Jackson L G; Schlesselman S E; de la Cruz F F; Desnick R J; Golbus M S; Ledbetter D H; Lubs H A; Mahoney M J; Pergament E
The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities.
The New England journal of medicine 1989;320(10):609-17.
1989: Ledbetter D H; Rich D C; O'Connell P; Leppert M; Carey J C
Precise localization of NF1 to 17q11.2 by balanced translocation.
American journal of human genetics 1989;44(1):20-4.
1988: Greenberg F; Elder F F; Haffner P; Northrup H; Ledbetter D H
Cytogenetic findings in a prospective series of patients with DiGeorge anomaly.
American journal of human genetics 1988;43(5):605-11.
1988: vanTuinen P; Dobyns W B; Rich D C; Summers K M; Robinson T J; Nakamura Y; Ledbetter D H
Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome.
American journal of human genetics 1988;43(5):587-96.
1988: Zhou Y Z; Slagle B L; Donehower L A; vanTuinen P; Ledbetter D H; Butel J S
Structural analysis of a hepatitis B virus genome integrated into chromosome 17p of a human hepatocellular carcinoma.
Journal of virology 1988;62(11):4224-31.
1988: Greenberg F; Courtney K B; Wessels R A; Huhta J; Carpenter R J; Rich D C; Ledbetter D H
Prenatal diagnosis of deletion 17p13 associated with DiGeorge anomaly.
American journal of medical genetics 1988;31(1):1-4.
1988: Rich D C; Witkowski C M; Summers K M; van Tuinen P; Ledbetter D H
Highly polymorphic locus D15S24 (CMW-1) maps to 15pter-q13. [HGM9 provisional no. D15S24]
Nucleic acids research 1988;16(17):8740.
1988: Ledley F D; Lumetta M R; Zoghbi H Y; VanTuinen P; Ledbetter S A; Ledbetter D H
Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6.
American journal of human genetics 1988;42(6):839-46.
1988: Ledbetter S A; Ledbetter D H
A common fragile site at Xq27: theoretical and practical implications.
American journal of human genetics 1988;42(5):694-702.
1988: Herman G E; Greenberg F; Ledbetter D H
Multiple congenital anomaly/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del(22q).
American journal of medical genetics 1988;29(4):909-15.
1988: Spence J E; Perciaccante R G; Greig G M; Willard H F; Ledbetter D H; Hejtmancik J F; Pollack M S; O'Brien W E; Beaudet A L
Uniparental disomy as a mechanism for human genetic disease.
American journal of human genetics 1988;42(2):217-26.
1988: Datta S; Luo C C; Li W H; VanTuinen P; Ledbetter D H; Brown M A; Chen S H; Liu S W; Chan L
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 1988;263(3):1107-10.
1988: Ledley F D; Ledbetter S A; Ledbetter D H; Woo S L
Localization of mouse phenylalanine hydroxylase locus on chromosome 10.
Cytogenetics and cell genetics 1988;47(3):125-6.
1987: Greenberg F; Elder F F; Ledbetter D H
Neonatal diagnosis of Prader-Willi syndrome and its implications.
American journal of medical genetics 1987;28(4):845-56.
1987: Greenberg F; Ledbetter D H
Deletions of proximal 15q without Prader-Willi syndrome.
American journal of medical genetics 1987;28(4):813-20.
1987: Pettigrew A L; Gollin S M; Greenberg F; Riccardi V M; Ledbetter D H
Duplication of proximal 15q as a cause of Prader-Willi syndrome.
American journal of medical genetics 1987;28(4):791-802.
1987: van Tuinen P; Rich D C; Summers K M; Ledbetter D H
Regional mapping panel for human chromosome 17: application to neurofibromatosis type 1.
Genomics 1987;1(4):374-81.
1987: Ledley F D; Grenett H E; Bartos D P; van Tuinen P; Ledbetter D H; Woo S L
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 1987;13(5):575-80.
1987: Liou G I; Fong S L; Gosden J; van Tuinen P; Ledbetter D H; Christie S; Rout D; Bhattacharya S; Cook R G; Li Y
Human interstitial retinol-binding protein (IRBP): cloning, partial sequence, and chromosomal localization.
Somatic cell and molecular genetics 1987;13(4):315-23.
1987: Spence J E; Buffone G J; Rosenbloom C L; Fernbach S D; Curry M R; Carpenter R J; Ledbetter D H; O'Brien W E; Beaudet A L
Prenatal diagnosis of cystic fibrosis using linked DNA markers and microvillar intestinal enzyme analysis.
Human genetics 1987;76(1):5-10.
1987: van Tuinen P; Johnson K R; Ledbetter S A; Nussbaum R L; Rovera G; Ledbetter D H
Localization of myeloperoxidase to the long arm of human chromosome 17: relationship to the 15; 17 translocation of acute promyelocytic leukemia.
Oncogene 1987;1(3):319-22.

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