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Mark Leppert

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Chromosomes, Human, Pair 8

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Nori Matsunami; Britt Otterud; Jeff Stevens; Kelly Thomas; TS Varvil; Lisa Baird; G Bryce Christensen; Renata Pellegrino da Silva; Edward Frackelton; Dexter Hadley; Charles H Hensel; Karen Ho; Cecilia Kim; Christophe G Lambert; Mark Leppert; Tami Leppert; Hakon Hakonarson
Identification of rare recurrent copy number variants in high-risk autism families and their prevalence in a large ASD population.
John D Kriesel; Evelyn A Kurt-Jones; Mark Leppert; Nori Matsunami; Milan K Patel; Christine A St Pierre; Robert W Finberg; Brandt B Jones; Maurine R Hobbs
C21orf91 genotypes correlate with herpes simplex labialis (cold sore) frequency: description of a cold sore susceptibility gene.
Kristina Allen-Brady; Judith Miller; Nori Matsunami; Jeffery Stevens; H Block; M Farley; Lori Krasny; Carmen Pingree; Janet E Lainhart; Mark Leppert; William M McMahon; Hilary Coon
A high-density SNP genome-wide linkage scan in a large autism extended pedigree.

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All Publications

2013: Nori Matsunami; Britt Otterud; Jeff Stevens; Kelly Thomas; TS Varvil; Lisa Baird; G Bryce Christensen; Renata Pellegrino da Silva; Edward Frackelton; Dexter Hadley; Charles H Hensel; Karen Ho; Cecilia Kim; Christophe G Lambert; Mark Leppert; Tami Leppert; Hakon Hakonarson
Identification of rare recurrent copy number variants in high-risk autism families and their prevalence in a large ASD population.
PloS one 2013;8(1):e52239.
2011: John D Kriesel; Evelyn A Kurt-Jones; Mark Leppert; Nori Matsunami; Milan K Patel; Christine A St Pierre; Robert W Finberg; Brandt B Jones; Maurine R Hobbs
C21orf91 genotypes correlate with herpes simplex labialis (cold sore) frequency: description of a cold sore susceptibility gene.
The Journal of infectious diseases 2011;204(11):1654-62.
2009: Kristina Allen-Brady; Judith Miller; Nori Matsunami; Jeffery Stevens; H Block; M Farley; Lori Krasny; Carmen Pingree; Janet E Lainhart; Mark Leppert; William M McMahon; Hilary Coon
A high-density SNP genome-wide linkage scan in a large autism extended pedigree.
Molecular psychiatry 2009;14(6):590-600.
2008: Shirley Rainier; Melanie R Bui; Erin Mark; Donald Thomas; Debra Tokarz; Lei Ming; Colin Delaney; Rudy Richardson; James Albers; Nori Matsunami; Jeff Stevens; Hilary Coon; Mark Leppert; John K Fink
Neuropathy target esterase gene mutations cause motor neuron disease.
American journal of human genetics 2008;82(3):780-5.
2008: Maurine R Hobbs; Brandt B Jones; Britt Otterud; Mark Leppert; John D Kriesel
Identification of a herpes simplex labialis susceptibility region on human chromosome 21.
The Journal of infectious diseases 2008;197(3):340-6.
2008: Stephen M Prescott; Jean-Marc Lalouel; Mark Leppert
From linkage maps to quantitative trait loci: the history and science of the Utah genetic reference project.
Annual review of genomics and human genetics 2008;9():347-58.
2007: Charles N Rotimi; Mark Leppert; Ichiro Matsuda; Changqing Zeng; Houcan Zhang; Clement Adebamowo; Ike Ajayi; Toyin Aniagwu; Missy Dixon; Yoshimitsu Fukushima; Darryl Macer; Patricia Marshall; Chibuzor Nkwodimmah; Andy Peiffer; Charmaine Royal; Eiko Suda; Hui Zhao; Vivian Ota Wang; Jean McEwen
Community engagement and informed consent in the International HapMap project.
Community genetics 2007;10(3):186-98.
2006: Fritz Zimprich; G M Ronen; W Stögmann; Christoph Baumgartner; E Stögmann; B Rett; C Pappas; Mark Leppert; N Singh; V Elving Anderson
Andreas Rett and benign familial neonatal convulsions revisited.
Neurology 2006;67(5):864-6.
2006: Amy F Hubbard; E. Wayne Askew; Nanda Singh; Mark Leppert; Paul S Bernstein
Association of adipose and red blood cell lipids with severity of dominant Stargardt macular dystrophy (STGD3) secondary to an ELOVL4 mutation.
Archives of ophthalmology 2006;124(2):257-63.
2005: Björn de Rijke; Agnes van Horssen-Zoetbrood; Jeffrey M Beekman; Britt Otterud; Frans Maas; Rob Woestenenk; Michel Kester; Mark Leppert; A V M B Schattenberg; Theo de Witte; Elly van de Wiel-van Kemenade; Harry Dolstra
A frameshift polymorphism in P2X5 elicits an allogeneic cytotoxic T lymphocyte response associated with remission of chronic myeloid leukemia.
The Journal of clinical investigation 2005;115(12):3506-16.
2005: Eric Jorgenson; Hua Tang; Maya Gadde; Michael A Province; Mark Leppert; Sharon L R Kardia; Nicholas J Schork; Richard Cooper; D C Rao; Eric Boerwinkle; Neil Risch
Ethnicity and human genetic linkage maps.
American journal of human genetics 2005;76(2):276-90.
2004: Donna K Arnett; Michael B Miller; Hilary Coon; R Curtis Ellison; Kari E North; Michael A Province; Mark Leppert; John H Eckfeldt
Genome-wide linkage analysis replicates susceptibility locus for fasting plasma triglycerides: NHLBI Family Heart Study.
Human genetics 2004;115(6):468-74.
2004: Paul J Norman; Mark A Cook; B Sean Carey; Christine Carrington; David H Verity; Kamran Hameed; D Dan Ramdath; Dasnayanee Chandanayingyong; Mark Leppert; Henry A F Stephens; Robert W Vaughan
SNP haplotypes and allele frequencies show evidence for disruptive and balancing selection in the human leukocyte receptor complex.
Immunogenetics 2004;56(4):225-37.
2003: Weihong Tang; Michael B Miller; Stephen S Rich; Kari E North; James S Pankow; Ingrid B Borecki; Richard H Myers; Paul N Hopkins; Mark Leppert; Donna K Arnett
Linkage analysis of a composite factor for the multiple metabolic syndrome: the National Heart, Lung, and Blood Institute Family Heart Study.
Diabetes 2003;52(11):2840-7.
2003: Weihong Tang; Richard B Devereux; Dalane W Kitzman; Michael A Province; Mark Leppert; Albert Oberman; Paul N Hopkins; Donna K Arnett
The Arg16Gly polymorphism of the beta2-adrenergic receptor and left ventricular systolic function.
American journal of hypertension 2003;16(11 Pt 1):945-51.
2003: Dennis Drayna; Hilary Coon; Un-Kyung Kim; Tami Elsner; Kevin Cromer; Britt Otterud; Lisa Baird; Andy P Peiffer; Mark Leppert
Genetic analysis of a complex trait in the Utah Genetic Reference Project: a major locus for PTC taste ability on chromosome 7q and a secondary locus on chromosome 16p.
Human genetics 2003;112(5-6):567-72.
2003: Un-Kyung Kim; Eric Jorgenson; Hilary Coon; Mark Leppert; Neil Risch; Dennis Drayna
Positional cloning of the human quantitative trait locus underlying taste sensitivity to phenylthiocarbamide.
Science (New York, N.Y.) 2003;299(5610):1221-5.
2003: Dennis Drayna; Un-Kyung Kim; Hilary Coon; Eric Jorgenson; Neil Risch; Mark Leppert
A model system for identifying genes underlying complex traits.
Cold Spring Harbor symposia on quantitative biology 2003;68():365-71.
2002: E Anderson; S Berkovic; O Dulac; M Gardiner; S Jain; M Laue Friis; Dick Lindhout; Jeffrey L Noebels; R Ottman; A Scaramelli; J Serratosa; Ortrud K Steinlein; G Avanzini; J Bailey-Wilson; L Cardon; R Fischbach; Katrina Gwinn-Hardy; Mark Leppert; J Ott; K Lindblad-Toh; K Weiss; M Laue-Friis
ILAE genetics commission conference report: molecular analysis of complex genetic epilepsies.
Epilepsia 2002;43(10):1262-7.
2002: M A Hall; Paul J Norman; Bonnie A Thiel; Hemant K Tiwari; Andy P Peiffer; Robert W Vaughan; S Prescott; Mark Leppert; Nicholas J Schork; Jerry S Lanchbury
Quantitative trait loci on chromosomes 1, 2, 3, 4, 8, 9, 11, 12, and 18 control variation in levels of T and B lymphocyte subpopulations.
American journal of human genetics 2002;70(5):1172-82.
2002: Paul S Bernstein; Mark Leppert; Nanda Singh; Michael Dean; Richard Alan Lewis; James R Lupski; Rando Allikmets; Johanna M Seddon
Genotype-phenotype analysis of ABCR variants in macular degeneration probands and siblings.
Investigative ophthalmology & visual science 2002;43(2):466-73.
2001: Paul S Bernstein; Jaana Tammur; Nanda Singh; Amy Hutchinson; M Dixon; C M Pappas; Norman A Zabriskie; Kang Zhang; Konstantin Petrukhin; Mark Leppert; Rando Allikmets
Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene.
Investigative ophthalmology & visual science 2001;42(13):3331-6.
2001: Wade S Samowitz; Karen Curtin; Khe-Ni Ma; Donna Schaffer; L W Coleman; Mark Leppert; Martha L Slattery
Microsatellite instability in sporadic colon cancer is associated with an improved prognosis at the population level.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2001;10(9):917-23.
2001: Martha L Slattery; Wade S Samowitz; Linda Ballard; Donna Schaffer; Mark Leppert; John D Potter
A molecular variant of the APC gene at codon 1822: its association with diet, lifestyle, and risk of colon cancer.
Cancer research 2001;61(3):1000-4.
2000: Martha L Slattery; Karen Curtin; Kristin Anderson; Khe-Ni Ma; Sandra Edwards; Mark Leppert; John Potter; Donna Schaffer; Wade S Samowitz
Associations between dietary intake and Ki-ras mutations in colon tumors: a population-based study.
Cancer research 2000;60(24):6935-41.
2000: Martha L Slattery; Karen Curtin; K Anderson; Khe-Ni Ma; Linda Ballard; Sandra Edwards; Donna Schaffer; John Potter; Mark Leppert; Wade S Samowitz
Associations between cigarette smoking, lifestyle factors, and microsatellite instability in colon tumors.
Journal of the National Cancer Institute 2000;92(22):1831-6.
2000: Wade S Samowitz; Karen Curtin; Donna Schaffer; M Robertson; Mark Leppert; Martha L Slattery
Relationship of Ki-ras mutations in colon cancers to tumor location, stage, and survival: a population-based study.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2000;9(11):1193-7.
2000: Mark Leppert
Novel K+ channel genes in benign familial neonatal convulsions.
Epilepsia 2000;41(8):1066-7.
2000: Kevin M Flanigan; L Kerr; Mark B Bromberg; C Leonard; Jay S Tsuruda; P Zhang; I Gonzalez-Gomez; Ronald D Cohn; K P Campbell; Mark Leppert
Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study.
Annals of neurology 2000;47(2):152-61.
2000: Martha L Slattery; John D Potter; Khe-Ni Ma; Bette Caan; Mark Leppert; Wade S Samowitz
Western diet, family history of colorectal cancer, NAT2, GSTM-1 and risk of colon cancer.
Cancer causes & control : CCC 2000;11(1):1-8.
1999: Nicholas Katsanis; R A Lewis; David Wayne Stockton; P M Mai; Lisa Baird; Philip L Beales; Mark Leppert; James R Lupski
Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees.
American journal of human genetics 1999;65(6):1672-9.
1999: Lisa N Spirio; J Green; J Robertson; M Robertson; Britt Otterud; J Sheldon; E Howse; R Green; J Groden; R White; Mark Leppert
The identical 5' splice-site acceptor mutation in five attenuated APC families from Newfoundland demonstrates a founder effect.
Human genetics 1999;105(5):388-98.
1999: Andy P Peiffer; J Thompson; Carole Charlier; Britt Otterud; TS Varvil; C Pappas; C Barnitz; KM Gruenthal; R Kuhn; Mark Leppert
A locus for febrile seizures (FEB3) maps to chromosome 2q23-24.
Annals of neurology 1999;46(4):671-8.
1999: Noah Shroyer; R A Lewis; Rando Allikmets; N Singh; M Dean; Mark Leppert; James R Lupski
The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial.
Vision research 1999;39(15):2537-44.
1999: Martha L Slattery; John D Potter; Wade S Samowitz; Donna Schaffer; Mark Leppert
Methylenetetrahydrofolate reductase, diet, and risk of colon cancer.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 1999;8(6):513-8.
1999: Mary MacDougall; L G Jeffords; Ting Ting Gu; Cara Gonzales; G Frei; BE Reus; Britt Otterud; Mark Leppert; Robin J Leach
Genetic linkage of the dentinogenesis imperfecta type III locus to chromosome 4q.
Journal of dental research 1999;78(6):1277-82.
1999: Andy P Peiffer; N Singh; Mark Leppert; W B Dobyns; John C Carey
Microcephaly with simplified gyral pattern in six related children.
American journal of medical genetics 1999;84(2):137-44.
1999: Takuya Numasawa; Hiroaki Koga; Kazumasa Ueyama; Shingo Maeda; Takashi Sakou; Seiko Harata; Mark Leppert; Ituro Inoue
Human retinoic X receptor beta: complete genomic sequence and mutation search for ossification of posterior longitudinal ligament of the spine.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 1999;14(4):500-8.
1999: Mark Leppert; N Singh
Benign familial neonatal epilepsy with mutations in two potassium channel genes.
Current opinion in neurology 1999;12(2):143-7.
1999: Peter Hedera; Shirley Rainier; David Alvarado; Xinping Zhao; J Williamson; Britt Otterud; Mark Leppert; John K Fink
Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q.
American journal of human genetics 1999;64(2):563-9.
1999: Maurine R Hobbs; Ann Pole; G N Pidwirny; I B Rosen; Richard J Zarbo; Hilary Coon; H Heath; Mark Leppert; Charles E Jackson
Hyperparathyroidism-jaw tumor syndrome: the HRPT2 locus is within a 0.7-cM region on chromosome 1q.
American journal of human genetics 1999;64(2):518-25.
1999: R A Lewis; Noah Shroyer; N Singh; Rando Allikmets; A Hutchinson; Y Li; James R Lupski; Mark Leppert; M Dean
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
American journal of human genetics 1999;64(2):422-34.
1999: N Singh; Carole Charlier; Andy P Peiffer; D Stauffer; Roberta Melis; M A Enoch; D Goldman; S Rogers; V Elving Anderson; Mark Leppert
Genes for rare idiopathic generalized epilepsies: BFNC.
Advances in neurology 1999;79():341-50.
1999: E Kampman; Martha L Slattery; Jeannette Bigler; Mark Leppert; Wade S Samowitz; Bette Caan; John D Potter
Meat consumption, genetic susceptibility, and colon cancer risk: a United States multicenter case-control study.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 1999;8(1):15-24.
1998: Martha L Slattery; John D Potter; Wade S Samowitz; Jeannette Bigler; Bette Caan; Mark Leppert
NAT2, GSTM-1, cigarette smoking, and risk of colon cancer.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 1998;7(12):1079-84.
1998: Lisa N Spirio; Wade S Samowitz; J Robertson; M Robertson; Randall W Burt; Mark Leppert; R White
Alleles of APC modulate the frequency and classes of mutations that lead to colon polyps.
Nature genetics 1998;20(4):385-8.
1998: Shirley Rainier; S M Jones; C Esposito; E Guice; Britt Otterud; Mark Leppert; John K Fink
Analysis of microtubule-associated protein 1a gene in hereditary spastic paraplegia.
Neurology 1998;51(5):1509-10.
1998: Hiroaki Koga; Takashi Sakou; Eiji Taketomi; Kyoji Hayashi; Takuya Numasawa; Seiko Harata; Kazunori Yone; Shunji Matsunaga; Britt Otterud; Ituro Inoue; Mark Leppert
Genetic mapping of ossification of the posterior longitudinal ligament of the spine.
American journal of human genetics 1998;62(6):1460-7.
1998: Bassem A Bejjani; R A Lewis; K F Tomey; K L Anderson; D K Dueker; MH Jabak; W F Astle; Britt Otterud; Mark Leppert; James R Lupski
Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.
American journal of human genetics 1998;62(2):325-33.
1998: Carole Charlier; Nanda A Singh; S G Ryan; T B Lewis; BE Reus; Robin J Leach; Mark Leppert
A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family.
Nature genetics 1998;18(1):53-5.
1998: Nanda A Singh; Carole Charlier; D Stauffer; B R DuPont; Robin J Leach; Roberta Melis; G M Ronen; I Bjerre; T Quattlebaum; J V Murphy; M L McHarg; D Gagnon; T O Rosales; Andy P Peiffer; V Elving Anderson; Mark Leppert
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.
Nature genetics 1998;18(1):25-9.
1997: Steven C Elbein; Mark Leppert; Sandra J Hasstedt
Uncoupling protein 2 region on chromosome 11q13 is not linked to markers of obesity in familial type 2 diabetes.
Diabetes 1997;46(12):2105-7.
1997: Jannine Cody; Frederick R Singer; David G Roodman; B Otterund; T B Lewis; Mark Leppert; Robin J Leach
Genetic linkage of Paget disease of the bone to chromosome 18q.
American journal of human genetics 1997;61(5):1117-22.
1997: Rando Allikmets; Noah Shroyer; N Singh; J M Seddon; R A Lewis; Paul S Bernstein; Andy P Peiffer; Norman A Zabriskie; Y Li; Amy Hutchinson; M Dean; James R Lupski; Mark Leppert
Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.
Science (New York, N.Y.) 1997;277(5333):1805-7.
1997: A Zwick; M Munir; C K Ryan; J Gian; Randall W Burt; Mark Leppert; Lisa N Spirio; William Y Chey
Gastric adenocarcinoma and dysplasia in fundic gland polyps of a patient with attenuated adenomatous polyposis coli.
Gastroenterology 1997;113(2):659-63.
1997: Rando Allikmets; N Singh; H Sun; Noah Shroyer; A Hutchinson; A Chidambaram; B Gerrard; Lisa Baird; D Stauffer; Andy P Peiffer; Amir Rattner; Philip M Smallwood; Y Li; K L Anderson; R A Lewis; Jeremy Nathans; Mark Leppert; M Dean; James R Lupski
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
Nature genetics 1997;15(3):236-46.
1997: Steven C Elbein; M D Hoffman; R A Mayorga; K L Barrett; Mark Leppert; Sandra J Hasstedt
Do non-insulin-dependent diabetes mellitus (NIDDM) and insulin-dependent diabetes mellitus (IDDM) share genetic susceptibility loci? An analysis of putative IDDM susceptibility regions in familial NIDDM.
Metabolism: clinical and experimental 1997;46(1):48-52.