FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Jeffery Vance

Research Profile

Concepts & Ideas

Procedures

Disorders

Physiology

Genes & Molecular Sequences

Chemicals & Drugs

Microsatellite Repeats

Anatomy

Chromosomes, Human, Pair 3

Co-author Network

Publications

TOP 3
Karen Nuytemans; William K Scott; Liyong Wang; Stephan Zuchner; Guney Bademci; Gary Beecham; Amy Dressen; Vanessa Inchausti; Daniel D Kinnamon; Eden R Martin; Arpit Mehta; Jeffery Vance
Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease.
Aimée Vester; Stephan Zuchner; Asim Beg; Leslie G Biesecker; Kenneth H Fischbeck; James R Lupski; Heather M McLaughlin; Garth Nicholson; Ricardo H Roda; Kevin Talbot; Jeffery Vance; Gisselle Velez-Ruiz; Anthony Antonellis
A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo.
Thomas L Ortel; Margaret Pericak-Vance; Leonardo R Brandão; Doruk Erkan; Susan Hahn; Andra H James; Craig S Kitchens; Roshni Kulkarni; Marilyn J Manco-Johnson; Jeffery Vance
Clinical causes and treatment of the thrombotic storm.

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of Jeffery Vance (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2013: Karen Nuytemans; William K Scott; Liyong Wang; Stephan Zuchner; Guney Bademci; Gary Beecham; Amy Dressen; Vanessa Inchausti; Daniel D Kinnamon; Eden R Martin; Arpit Mehta; Jeffery Vance
Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease.
Neurology 2013;80(11):982-9.
2013: Aimée Vester; Stephan Zuchner; Asim Beg; Leslie G Biesecker; Kenneth H Fischbeck; James R Lupski; Heather M McLaughlin; Garth Nicholson; Ricardo H Roda; Kevin Talbot; Jeffery Vance; Gisselle Velez-Ruiz; Anthony Antonellis
A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo.
Human mutation 2013;34(1):191-9.
2012: Thomas L Ortel; Margaret Pericak-Vance; Leonardo R Brandão; Doruk Erkan; Susan Hahn; Andra H James; Craig S Kitchens; Roshni Kulkarni; Marilyn J Manco-Johnson; Jeffery Vance
Clinical causes and treatment of the thrombotic storm.
Expert review of hematology 2012;5(6):653-9.
2012: Alexandra Dumitriu; Tatiana Foroud; Dan Garza; Tiffany C Hadzi; Jeanne C Latourelle; John P Miller; Nathan Pankratz; Jeffery Vance; Thomas G Beach; Richard H Myers
Gene expression profiles in Parkinson disease prefrontal cortex implicate FOXO1 and genes under its transcriptional regulation.
PLoS genetics 2012;8(6):e1002794.
2012: Guney Bademci; Jeffery Vance; Liyong Wang
Tyrosine hydroxylase gene: another piece of the genetic puzzle of Parkinson's disease.
CNS & neurological disorders drug targets 2012;11(4):469-81.
2012: Brooke A DeRosa; Gaurav K Dubey; Michael Cuccaro; Joycelyn M Lee; Margaret Pericak-Vance; Jessica M Van Baaren; Jeffery Vance; Derek M. Dykxhoorn
Derivation of autism spectrum disorder-specific induced pluripotent stem cells from peripheral blood mononuclear cells.
Neuroscience letters 2012;516(1):9-14.
2012: Nathan Pankratz; Haydeh Payami; Owen A Ross; Clemens R Scherzer; William Scott; David K Simon; Caroline Tanner; Jeffery Vance; Zbigniew K Wszolek; Cyrus Zabetian; Gary Beecham; LN Clark; Ted M Dawson; Anita L DeStefano; Kimberly F Doheny; Stewart A Factor; Tatiana Foroud; Taye H Hamza; Albert Y Hung; Bradley T Hyman; Adrian J Ivinson; Dmitri Krainc; Jeanne C Latourelle; Karen Marder; Eden R Martin; Richard Mayeux; Richard H Myers
Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.
Annals of neurology 2012;71(3):370-84.
2012: Gladys Montenegro; Pasqua Montieri; Antonio Orlacchio; Margaret Pericak-Vance; Justin Price; Adriana P Rebelo; Evan Reid; Mark T Rogers; Ludger Schöls; Rebecca Schüle; Alleene Strickland; Shoji Tsuji; Jeffery Vance; Rachel Allison; Carla Babalini; Lisa Baumbach; Giorgio Bernardi; James Connell; Michela D'Aloia; Peter De Jonghe; Tine Deconinck; Michael A Gonzalez; Jia Huang; Hiroyuki Ishiura; Stephan Zuchner
Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12.
The Journal of clinical investigation 2012;122(2):538-44.
2012: Christina M Lill; Tian Liu; Demetrius M Maraganore; Eden R Martin; Maria Martinez; Matthew B McQueen; Esther Meissner; Richard H Myers; Michael A Nalls; Nathan Pankratz; Haydeh Payami; Johannes T Roehr; Wataru Satake; Marcel Schilling; Brit-Maren M Schjeide; Leif M Schjeide; William Scott; Manu Sharma; Andrew B Singleton; Kari Stefansson; Rudolph E Tanzi; Tatsushi Toda; Joyce Y Tung; Jeffery Vance; Nick W Wood; Peter Young; Cyrus P Zabetian; Ute Zauft; Frauke Zipp; Joanna M Biernacka; Alexis Brice; Anita L DeStefano; Chuong B Do; Nicholas Eriksson; Stewart A Factor; Matthew J Farrer; Tatiana Foroud; Thomas Gasser; Taye Hamza; John A Hardy; Peter Heutink; Erin M Hill-Burns; John Ioannidis; Fotini K Kavvoura; Muin J Khoury; Christine Klein; Jeanne C Latourelle; Hans Lehrach; Nicole C Allen; Kari J Anderson; Sachin Bagade; Gary Beecham; Daniela Berg; Lars Bertram
Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database.
PLoS genetics 2012;8(3):e1002548.
2012: Heather M McLaughlin; Kevin Talbot; Garth Nicholson; Yi-Chung Lee; Stephan Züchner; James R Lupski; Ya-Ming Hou; Marina Kennerson; Thomas E Wilson; Reiko Sakaguchi; William Giblin; Jeffery Vance; Leslie Biesecker; Anthony Antonellis
A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N).
Human mutation 2012;33(1):244-53.
2011: Taye H Hamza; Erin M Hill-Burns; Denise M Kay; Kenneth S Kendler; Victoria I Kusel; Jennifer S Montimurro; John G Nutt; Yikyung Park; Shannon L Rhodes; Beate Ritz; John W Roberts; Ali Samii; William Scott; Patricia Sheehan; Albert Tenesa; Jeffery Vance; Liyong Wang; Dora Yearout; Cyrus Zabetian; Pinky Agarwal; Silviu-Alin Bacanu; Yvette Bordelon; Honglei Chen; Muthukrishnan Eaaswarkhanth; Stewart A Factor; Jianjun Gao; Haydeh Payami
Genome-wide gene-environment study identifies glutamate receptor gene GRIN2A as a Parkinson's disease modifier gene via interaction with coffee.
PLoS genetics 2011;7(8):e1002237.
2011: Donald S McCorquodale; Michel Melanson; Gladys Montenegro; Ainsley Peguero; Justin Price; Fiorella Speziani; Sean W Taylor; Jeffery Vance; Nicole Carlson; Stephan Zuchner
Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2.
Journal of neurology 2011;258(7):1234-9.
2011: Mollie A Minear; David R Crosslin; Beth S Sutton; Jessica J Connelly; Sarah C Nelson; Shera Gadson-Watson; Tianyuan Wang; David Seo; Jeffery Vance; Michael H Sketch; Chad Haynes; Pascal J Goldschmidt-Clermont; Svati H Shah; William E Kraus; Elizabeth R Hauser; Simon G Gregory
Polymorphic variants in tenascin-C (TNC) are associated with atherosclerosis and coronary artery disease.
Human genetics 2011;129(6):641-54.
2011: Jeffery Vance; Demet Tekin
Genomic medicine and neurology.
Continuum (Minneapolis, Minn.) 2011;17(2 Neurogenetics):249-67.
2011: Craig S Kitchens; Doruk Erkan; Leonardo R Brandão; Susan Hahn; Andra H James; Roshni Kulkarni; Margaret Pericak-Vance; Jeffery Vance; Thomas L Ortel
Thrombotic storm revisited: preliminary diagnostic criteria suggested by the thrombotic storm study group.
The American journal of medicine 2011;124(4):290-6.
2011: Megan W Butler; Amber Burt; Todd L Edwards; Stephan Zuchner; William Scott; Eden R Martin; Jeffery Vance; Liyong Wang
Vitamin D receptor gene as a candidate gene for Parkinson disease.
Annals of human genetics 2011;75(2):201-10.
2011: Gladys Montenegro; Eric Powell; Jia Huang; Fiorella Speziani; Yvonne Jemimah Edwards; Gary Beecham; William F Hulme; Carly Siskind; Jeffery Vance; chris hall; Stephan Zuchner
Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family.
Annals of neurology 2011;69(3):464-70.
2011: Stephan Zuchner; Julia Dallman; Rong Wen; Gary Beecham; Adam Naj; Amjad Farooq; Martin A Kohli; Patrice L Whitehead; William F Hulme; Ioanna Konidari; Yvonne Jemimah Edwards; Guiqing Cai; Inga Peter; David Seo; Joseph Buxbaum; Jonathan L Haines; S Blanton; Juan I. Young; Eduardo C Alfonso; Jeffery Vance; Byron Lam; Margaret A Peričak-Vance
Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa.
American journal of human genetics 2011;88(2):201-6.
2011: Madalena Martins; Tiago Mestre; Fran Borovecki; Miguel Coelho; Joaquim Ferreira; Benedita V Fonseca; Kristina Gotovac; Leonor C Guedes; Eden R Martin; Tiago F Outeiro; Alexandra Rosa; Mário Miguel Rosa; Jeffery Vance; Sara Violante; Liyong Wang; Sofia A Oliveira
Convergence of miRNA expression profiling, α-synuclein interacton and GWAS in Parkinson's disease.
PloS one 2011;6(10):e25443.
2011: Dale Hedges; Toumy Guettouche; Shan Yang; Guney Bademci; Ashley Diaz; Ashley Andersen; William F Hulme; Sara Linker; Arpit Mehta; Yvonne Jemimah Edwards; Gary Beecham; Eden R Martin; Margaret Pericak-Vance; Stephan Zuchner; Jeffery Vance; John Gilbert
Comparison of three targeted enrichment strategies on the SOLiD sequencing platform.
PloS one 2011;6(4):e18595.
2011: Yvonne Jemimah Edwards; Gary Beecham; William Scott; Sawsan Khuri; Guney Bademci; Demet Tekin; Eden R Martin; Zhijie Jiang; Deborah C Mash; Jarlath ffrench-Mullen; Margaret Pericak-Vance; Nicholas F Tsinoremas; Jeffery Vance
Identifying consensus disease pathways in Parkinson's disease using an integrative systems biology approach.
PloS one 2011;6(2):e16917.
2011: John Peter Hussman; Ren-Hua Chung; Anthony J Griswold; James M Jaworski; Daria Salyakina; Deqiong Ma; Ioanna Konidari; Patrice L Whitehead; Jeffery Vance; Eden R Martin; Michael Cuccaro; John Gilbert; Jonathan L Haines; Margaret Pericak-Vance
A noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism.
Molecular autism 2011;2(1):1.
2010: Pascal J Goldschmidt-Clermont; David Seo; Liyong Wang; Gary Beecham; Zhao-Jun Liu; Roberto I Vazquez-Padron; Chunming Dong; Joshua M Hare; Michael Kapiloff; Nanette H Bishopric; Margaret Pericak-Vance; Jeffery Vance; Omaida Velazquez
Inflammation, stem cells and atherosclerosis genetics.
Current opinion in molecular therapeutics 2010;12(6):712-23.
2010: Siôn L Williams; Jia Huang; Yvonne Jemimah Edwards; Rick H Ulloa; Lloye M Dillon; Tomas A Prolla; Jeffery Vance; Carlos T Moraes; Stephan Zuchner
The mtDNA mutation spectrum of the progeroid Polg mutator mouse includes abundant control region multimers.
Cell metabolism 2010;12(6):675-82.
2010: Karen Nuytemans; Jeffery Vance
Whole exome sequencing.
Rinshō shinkeigaku = Clinical neurology 2010;50(11):952-5.
2010: Heather M McLaughlin; Reiko Sakaguchi; Cuiping Liu; Takao Igarashi; Davut Pehlivan; Kristine Chu; Ram Iyer; Pedro Cruz; Praveen F Cherukuri; Nancy F Hansen; James C Mullikin; Leslie G Biesecker; Thomas E Wilson; Victor Ionasescu; Garth Nicholson; Charles Searby; Kevin Talbot; Jeffery Vance; Stephan Zuchner; Kinga Szigeti; James R Lupski; Ya-Ming Hou; Eric D Green; Anthony Antonellis
Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.
American journal of human genetics 2010;87(4):560-6.
2010: Bin Zheng; Zhixiang Liao; Joseph J Locascio; Kristen A Lesniak; Sarah S Roderick; Marla L Watt; Aron C Eklund; Yanli Zhang-James; Peter D Kim; Michael A Hauser; Edna Grünblatt; Linda B Moran; Silvia A Mandel; Peter Riederer; Renee M Miller; Howard Federoff; Ullrich Wüllner; Spyridon Papapetropoulos; Moussa B Youdim; Ippolita Cantuti-Castelvetri; Anne B Young; Jeffery Vance; Richard L Davis; John C Hedreen; Charles H Adler; Thomas Beach; Manuel B Graeber; Frank A Middleton; Jean-Christophe Rochet; Clemens R Scherzer
PGC-1α, a potential therapeutic target for early intervention in Parkinson's disease.
Science translational medicine 2010;2(52):52ra73.
2010: Güney Bademci; Todd L Edwards; Andre L Torres; William Scott; Stephan Zuchner; Eden R Martin; Jeffery Vance; Liyong Wang
A rare novel deletion of the tyrosine hydroxylase gene in Parkinson disease.
Human mutation 2010;31(10):E1767-71.
2010: Adam C Naj; Gary Beecham; Eden R Martin; Paul J Gallins; Eric Halsey Powell; Ioanna Konidari; Patrice L Whitehead; Guiqing Cai; Vahram Haroutunian; William Scott; Jeffery Vance; Michael Slifer; Harry E Gwirtsman; John Gilbert; Jonathan L Haines; Joseph Buxbaum; Margaret Pericak-Vance
Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities.
PLoS genetics 2010;6(9):.
2010: Carol A Christianson; Karen Potter Powell; Susan Estabrooks Hahn; Deborah Bartz; Tiese Roxbury; S Blanton; Jeffery Vance; Margaret Pericak-Vance; Joseph Telfair; Vincent C Henrich
Findings from a community education needs assessment to facilitate the integration of genomic medicine into primary care.
Genetics in medicine : official journal of the American College of Medical Genetics 2010;12(9):587-93.
2010: Jeffery Vance; Syed Ali; Walter G Bradley; Carlos Singer; Donato A Di Monte
Gene-environment interactions in Parkinson's disease and other forms of parkinsonism.
Neurotoxicology 2010;31(5):598-602.
2010: Chee Yeun Chung; Pawel Licznerski; Kambiz Nassirpour Alavian; Antonio Simeone; Zhicheng Lin; Eden R Martin; Jeffery Vance; Ole Isacson
The transcription factor orthodenticle homeobox 2 influences axonal projections and vulnerability of midbrain dopaminergic neurons.
Brain : a journal of neurology 2010;133(Pt 7):2022-31.
2010: Emil Lou; Stephan Zuchner; Jeffery Vance; Joel Morgenlander
A potential novel variant of hereditary sensory neuropathy in a 61-year-old man with cough-induced syncope and vertebral artery dissection.
Mayo Clinic proceedings. Mayo Clinic 2010;85(6):594-5.
2010: Jia Huang; Xingyao Wu; Gladys Montenegro; Justin Price; Gaofeng Wang; Jeffery Vance; chris hall; Stephan Zuchner
Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease.
Journal of neurology 2010;257(5):735-41.
2010: Todd L Edwards; William Scott; Cherylyn Almonte; Amber Burt; Eric Halsey Powell; Gary Beecham; Liyong Wang; Stephan Zuchner; Ioanna Konidari; Gaofeng Wang; Carlos Singer; Fatta Nahab; Burton Scott; Jeffrey M Stajich; Margaret Pericak-Vance; Jonathan L Haines; Jeffery Vance; Eden R Martin
Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease.
Annals of human genetics 2010;74(2):97-109.
2010: Lina Shehadeh; Kristine Yu; Liyong Wang; Alexandra Guevara; Carlos Singer; Jeffery Vance; Spiridon Papapetropoulos
SRRM2, a potential blood biomarker revealing high alternative splicing in Parkinson's disease.
PloS one 2010;5(2):e9104.
2010: S Hahn; S Letvak; K Powell; C Christianson; Douglas C Wallace; M Speer; P Lietz; S Blanton; Jeffery Vance; Margaret Pericak-Vance; V C Henrich
A Community's Awareness and Perceptions of Genomic Medicine.
Public health genomics 2010;13(2):63-71.
2009: Kristl G Claeys; Stephan Zuchner; Marina Kennerson; José Berciano; Antonio Garcia; Kristien Verhoeven; Elsdon Storey; John R Merory; Henriette M E Bienfait; Martin Lammens; Eva Nelis; Jonathan Baets; Els De Vriendt; Zwi N Berneman; Ilse De Veuster; Jeffery Vance; Garth Nicholson; Vincent Timmerman; Peter De Jonghe
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy.
Brain : a journal of neurology 2009;132(Pt 7):1741-52.
2009: Xiaoyi Gao; Eden R Martin; Yutao Liu; Gregory Mayhew; Jeffery Vance; William Scott
Genome-wide linkage screen in familial Parkinson disease identifies loci on chromosomes 3 and 18.
American journal of human genetics 2009;84(4):499-504.
2009: David R Crosslin; Svati H Shah; Sarah C Nelson; CS Haynes; Jessica J Connelly; Shera Gadson; Pascal J Goldschmidt-Clermont; Jeffery Vance; Jason Rose; Chris B Granger; David Seo; Simon G Gregory; William E Kraus; Elizabeth R Hauser
Genetic effects in the leukotriene biosynthesis pathway and association with atherosclerosis.
Human genetics 2009;125(2):217-29.
2009: Svati H Shah; Neil J Freedman; Lisheng Zhang; David R Crosslin; David H Stone; Chad Haynes; Jessica Johnson; Sarah Nelson; Liyong Wang; Jessica J Connelly; Michael Muehlbauer; Geoffrey S Ginsburg; David C Crossman; Christopher J H Jones; Jeffery Vance; Michael H Sketch; Christopher B Granger; Christopher B Newgard; Simon G Gregory; Pascal J Goldschmidt-Clermont; William E Kraus; Elizabeth R Hauser
Neuropeptide Y gene polymorphisms confer risk of early-onset atherosclerosis.
PLoS genetics 2009;5(1):e1000318.
2008: Dana B Hancock; Eden R Martin; Jeffery Vance; William Scott
Nitric oxide synthase genes and their interactions with environmental factors in Parkinson's disease.
Neurogenetics 2008;9(4):249-62.
2008: R M Carney; Michael Slifer; Ping-I Lin; Perry C Gaskell; William Scott; C F Potocky; C M Hulette; Kathleen A Welsh-Bohmer; Donald E Schmechel; Jeffery Vance; Margaret Pericak-Vance
Longitudinal follow-up of late-onset Alzheimer disease families.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008;147B(5):571-8.
2008: Liyong Wang; E R Hauser; S H Shah; David Seo; P Sivashanmugam; Sabrina Exum; S G Gregory; C B Granger; Jonathan L Haines; C J H Jones; D Crossman; C Haynes; W E Kraus; N J Freedman; Margaret Pericak-Vance; Pascal J Goldschmidt-Clermont; Jeffery Vance
Polymorphisms of the tumor suppressor gene LSAMP are associated with left main coronary artery disease.
Annals of human genetics 2008;72(Pt 4):443-53.
2008: Allison E Ashley-Koch; Laine Elliott; Melanie E Kail; Laura M De Castro; Jude Jonassaint; Terry L Jackson; Jennifer Price; Kenneth I Ataga; Marc C Levesque; J Brice Weinberg; Eugene P Orringer; Ann Collins; Jeffery Vance; Marilyn J Telen
Identification of genetic polymorphisms associated with risk for pulmonary hypertension in sickle cell disease.
Blood 2008;111(12):5721-6.
2008: Beth S Sutton; David R Crosslin; Svati H Shah; Sarah C Nelson; Anthony Bassil; A Brent Hale; Chad Haynes; Pascal J Goldschmidt-Clermont; Jeffery Vance; David Seo; William E Kraus; Simon G Gregory; Elizabeth R Hauser
Comprehensive genetic analysis of the platelet activating factor acetylhydrolase (PLA2G7) gene and cardiovascular disease in case-control and family datasets.
Human molecular genetics 2008;17(9):1318-28.
2008: X Gao; William Scott; Gaofeng Wang; G Mayhew; Yi-Ju Li; Jeffery Vance; Eden R Martin
Gene-gene interaction between FGF20 and MAOB in Parkinson disease.
Annals of human genetics 2008;72(Pt 2):157-62.
2008: Gaofeng Wang; Joelle M van der Walt; Gregory Mayhew; Yi-Ju Li; Stephan Zuchner; William Scott; Eden R Martin; Jeffery Vance
Variation in the miRNA-433 binding site of FGF20 confers risk for Parkinson disease by overexpression of alpha-synuclein.
American journal of human genetics 2008;82(2):283-9.
2008: Dana B Hancock; Eden R Martin; Gregory M Mayhew; Jeffrey M Stajich; Rita Jewett; Mark A Stacy; Burton L Scott; Jeffery Vance; William Scott
Pesticide exposure and risk of Parkinson's disease: a family-based case-control study.
BMC neurology 2008;8():6.
2007: Yi-Ju Li; J Deng; G M Mayhew; J W Grimsley; X Huo; Jeffery Vance
Investigation of the PARK10 gene in Parkinson disease.
Annals of human genetics 2007;71(Pt 5):639-47.
2007: Laine Elliott; Allison E Ashley-Koch; Laura M De Castro; Jude Jonassaint; Jennifer Price; Kenneth I Ataga; Marc C Levesque; J Brice Weinberg; James R Eckman; Eugene P Orringer; Jeffery Vance; Marilyn J Telen
Genetic polymorphisms associated with priapism in sickle cell disease.
British journal of haematology 2007;137(3):262-7.
2007: Dana B Hancock; Eden R Martin; Jeffrey M Stajich; Rita M Jewett; Mark Stacy; Burton L Scott; Jeffery Vance; William Scott
Smoking, caffeine, and nonsteroidal anti-inflammatory drugs in families with Parkinson disease.
Archives of neurology 2007;64(4):576-80.
2007: Liyong Wang; Elizabeth R Hauser; Svati H Shah; Margaret Pericak-Vance; Chad Haynes; David R Crosslin; Marco Harris; Sarah Nelson; A Brent Hale; Christopher B Granger; Jonathan L Haines; Christopher J H Jones; David C Crossman; David Seo; Simon G Gregory; William E Kraus; Pascal J Goldschmidt-Clermont; Jeffery Vance
Peakwide mapping on chromosome 3q13 identifies the kalirin gene as a novel candidate gene for coronary artery disease.
American journal of human genetics 2007;80(4):650-63.
2007: Lawrence I Golbe; Giuseppe Di Iorio; Katerina Markopoulou; Aglaia Athanassiadou; Spiridon Papapetropoulos; Ray L Watts; Jeffery Vance; Vincenzo Bonifati; Tanishia A Williams; John R Spychala; Edward S Stenroos; William G Johnson
Glutathione S-transferase polymorphisms and onset age in alpha-synuclein A53T mutant Parkinson's disease.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007;144B(2):254-8.
2007: Ping-I Lin; Jeffery Vance; Margaret Pericak-Vance; Eden R Martin
No gene is an island: the flip-flop phenomenon.
American journal of human genetics 2007;80(3):531-8.
2007: Clemens R Scherzer; Aron C Eklund; Lee J Morse; Zhixiang Liao; Joseph J Locascio; Daniel Fefer; Michael A Schwarzschild; Michael G Schlossmacher; Michael A Hauser; Jeffery Vance; Lewis R Sudarsky; David G Standaert; John H Growdon; Roderick V Jensen; Steven R Gullans
Molecular markers of early Parkinson's disease based on gene expression in blood.
Proceedings of the National Academy of Sciences of the United States of America 2007;104(3):955-60.
2006: Sun J Kang; William Scott; Yi-Ju Li; Michael A Hauser; Joelle M van der Walt; Kenichiro Fujiwara; Gregory M Mayhew; Sandra G West; Jeffery Vance; Eden R Martin
Family-based case-control study of MAOA and MAOB polymorphisms in Parkinson disease.
Movement disorders : official journal of the Movement Disorder Society 2006;21(12):2175-80.
2006: Svati H Shah; William E Kraus; David C Crossman; Christopher B Granger; Jonathan L Haines; Christopher J H Jones; Vincent Mooser; L Huang; Chad Haynes; E Dowdy; G L Vega; S M Grundy; Jeffery Vance; Elizabeth R Hauser
Serum lipids in the GENECARD study of coronary artery disease identify quantitative trait loci and phenotypic subsets on chromosomes 3q and 5q.
Annals of human genetics 2006;70(Pt 6):738-48.
2006: Dana B Hancock; Eden R Martin; Kenichiro Fujiwara; Mark Stacy; Burton L Scott; Jeffrey M Stajich; Rita M Jewett; Yi-Ju Li; Michael A Hauser; Jeffery Vance; William Scott
NOS2A and the modulating effect of cigarette smoking in Parkinson's disease.
Annals of neurology 2006;60(3):366-73.
2006: Jessica J Connelly; Tianyuan Wang; Julie E Cox; Chad Haynes; Liyong Wang; Svati H Shah; David R Crosslin; A Brent Hale; Sarah Nelson; David C Crossman; Christopher B Granger; Jonathan L Haines; Christopher J H Jones; Jeffery Vance; Pascal J Goldschmidt-Clermont; William E Kraus; Elizabeth R Hauser; Simon G Gregory
GATA2 is associated with familial early-onset coronary artery disease.
PLoS genetics 2006;2(8):e139.
2006: Stephan Zuchner; Gaofeng Wang; Khanh-Nhat Tran-Viet; Martha A Nance; Perry C Gaskell; Jeffery Vance; Allison E Ashley-Koch; Margaret Pericak-Vance
Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.
American journal of human genetics 2006;79(2):365-9.
2006: Kristien Verhoeven; Kristl G Claeys; Stephan Zuchner; J Michael Schröder; Joachim Weis; Chantal Ceuterick; Albena Jordanova; Eva Nelis; Els De Vriendt; Matthias Van Hul; Pavel Seeman; Radim Mazanec; Gulam Mustafa Saifi; Kinga Szigeti; Pedro Mancias; Ian J Butler; Andrzej Kochanski; Barbara Ryniewicz; Jan De Bleecker; Peter Van den Bergh; Christine Verellen; Rudy Van Coster; Nathalie Goemans; Michaela Auer-Grumbach; Wim Robberecht; Vedrana Milic Rasic; Yoram Nevo; Ivajlo Tournev; Velina Guergueltcheva; Filip Roelens; Peter Vieregge; Paolo Vinci; Maria Teresa Moreno; H-J Christen; chris hall; James R Lupski; Jeffery Vance; Peter De Jonghe; Vincent Timmerman
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.
Brain : a journal of neurology 2006;129(Pt 8):2093-102.
2006: Yi-Ju Li; William Scott; Ling Zhang; Ping-I Lin; Sofia A Oliveira; Tara Skelly; Maurali P Doraiswamy; Kathleen A Welsh-Bohmer; Eden R Martin; Jonathan L Haines; Margaret Pericak-Vance; Jeffery Vance
Revealing the role of glutathione S-transferase omega in age-at-onset of Alzheimer and Parkinson diseases.
Neurobiology of aging 2006;27(8):1087-93.
2006: Daniel W Hahs; Jacob McCauley; Amy E Crunk; Lynne L McFarland; Perry C Gaskell; Lan Jiang; Susan H Slifer; Jeffery Vance; William Scott; Kathleen A Welsh-Bohmer; Stephanie R Johnson; Charles E Jackson; Margaret Pericak-Vance; Jonathan L Haines
A genome-wide linkage analysis of dementia in the Amish.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2006;141B(2):160-6.
2006: Sreekumar Pillai; Mathias N Chiano; Nicola J White; Marcy C Speer; Kathleen C Barnes; Karin Carlsen; Jorrit Gerritsen; Peter J Helms; Warren Lenney; Michael Silverman; Peter Sly; John Sundy; John Tsanakas; Andrea Von Berg; Moira Whyte; Shela Varsani; Paul Skelding; Michael Hauser; Jeffery Vance; Margaret Pericak-Vance; Daniel K Burns; Lefkos T Middleton; Shyama R Brewster; Wayne H Anderson; John H Riley
A genome-wide search for linkage to asthma phenotypes in the genetics of asthma international network families: evidence for a major susceptibility locus on chromosome 2p.
European journal of human genetics : EJHG 2006;14(3):307-16.
2006: Stephan Zuchner; Peter De Jonghe; Albena Jordanova; Kristl G Claeys; Velina Guergueltcheva; Sylvia Cherninkova; Steven R Hamilton; Gregory P Van Stavern; Karen M Krajewski; Jason E Stajich; Ivailo Tournev; Kristien Verhoeven; Christine T Langerhorst; Marianne De Visser; Frank Baas; Thomas D Bird; Vincent Timmerman; chris hall; Jeffery Vance
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.
Annals of neurology 2006;59(2):276-81.
2006: Stephan Zuchner; Jeffery Vance
Mechanisms of disease: a molecular genetic update on hereditary axonal neuropathies.
Nature clinical practice. Neurology 2006;2(1):45-53.
2006: Stephan Zuchner; Jeffery Vance
Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease.
Neuromolecular medicine 2006;8(1-2):63-74.
2006: Jacob McCauley; Daniel W Hahs; Lan Jiang; William Scott; Kathleen A Welsh-Bohmer; Charles E Jackson; Jeffery Vance; Margaret Pericak-Vance; Jonathan L Haines
Combinatorial Mismatch Scan (CMS) for loci associated with dementia in the Amish.
BMC medical genetics 2006;7():19.
2005: Stephan Zuchner; Jeffery Vance
Emerging pathways for hereditary axonopathies.
Journal of molecular medicine (Berlin, Germany) 2005;83(12):935-43.
2005: Hong Xu; Simon G Gregory; Elizabeth R Hauser; Judith E Stenger; Margaret Pericak-Vance; Jeffery Vance; Stephan Zuchner; Michael A Hauser
SNPselector: a web tool for selecting SNPs for genetic association studies.
Bioinformatics (Oxford, England) 2005;21(22):4181-6.
2005: Maher A Noureddine; Yi-Ju Li; Joelle M van der Walt; Robert Walters; Rita M Jewett; Hong Xu; Tianyuan Wang; Jeffrey W Walter; Burton L Scott; Christine M Hulette; Donald E Schmechel; Judith E Stenger; Fred S Dietrich; Jeffery Vance; Michael A Hauser
Genomic convergence to identify candidate genes for Parkinson disease: SAGE analysis of the substantia nigra.
Movement disorders : official journal of the Movement Disorder Society 2005;20(10):1299-309.
2005: Danqing Zhu; Marina L Kennerson; Gina Walizada; Stephan Zuchner; Jeffery Vance; Garth A Nicholson
Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations.
Neurology 2005;65(3):496-7.
2005: Sofia A Oliveira; Yi-Ju Li; Maher A Noureddine; Stephan Zuchner; Xuejun Qin; Margaret Pericak-Vance; Jeffery Vance
Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease.
American journal of human genetics 2005;77(2):252-64.
2005: Michelle P Winn; Peter J Conlon; Kelvin L Lynn; Merry Kay Farrington; Tony L Creazzo; April F Hawkins; Nikki Daskalakis; Shu Ying Kwan; Seth Ebersviller; James L Burchette; Margaret Pericak-Vance; David N Howell; Jeffery Vance; Paul B Rosenberg
A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis.
Science (New York, N.Y.) 2005;308(5729):1801-4.
2005: Michael A Hauser; Yi-Ju Li; Hong Xu; Maher A Noureddine; Yujun S Shao; Steven R Gullans; Clemens R Scherzer; Roderick V Jensen; Adam C McLaurin; Jason R Gibson; Burton L Scott; Rita M Jewett; Judith E Stenger; Donald E Schmechel; Christine M Hulette; Jeffery Vance
Expression profiling of substantia nigra in Parkinson disease, progressive supranuclear palsy, and frontotemporal dementia with parkinsonism.
Archives of neurology 2005;62(6):917-21.
2005: Ning-pu Liu; Wenjun Bao; Clayton F Smith; Jeffery Vance; Gordon K Klintworth
Different mutations in carbohydrate sulfotransferase 6 (CHST6) gene cause macular corneal dystrophy types I and II in a single sibship.
American journal of ophthalmology 2005;139(6):1118-20.
2005: Maher A Noureddine; Xue-Jun Qin; Sofia A Oliveira; Tara J Skelly; Joelle M van der Walt; Michael A Hauser; Margaret Pericak-Vance; Jeffery Vance; Yi-Ju Li
Association between the neuron-specific RNA-binding protein ELAVL4 and Parkinson disease.
Human genetics 2005;117(1):27-33.
2005: Stephan Zuchner; Maher A Noureddine; Marina L Kennerson; Kristien Verhoeven; Kristl G Claeys; Peter De Jonghe; John Merory; Sofia A Oliveira; Marcy C Speer; Judith E Stenger; Gina Walizada; Danqing Zhu; Margaret Pericak-Vance; Garth Nicholson; Vincent Timmerman; Jeffery Vance
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.
Nature genetics 2005;37(3):289-94.
2005: William Scott; Fengyu Zhang; Jeffrey M Stajich; Burton L Scott; Mark Stacy; Jeffery Vance
Family-based case-control study of cigarette smoking and Parkinson disease.
Neurology 2005;64(3):442-7.
2005: Judith E Stenger; Hong Xu; Chad Haynes; Elizabeth R Hauser; Margaret Pericak-Vance; Pascal J Goldschmidt-Clermont; Jeffery Vance
Statistical Viewer: a tool to upload and integrate linkage and association data as plots displayed within the Ensembl genome browser.
BMC bioinformatics 2005;6():95.
2004: Kristin K Nicodemus; Judith E Stenger; Donald E Schmechel; Kathleen A Welsh-Bohmer; Ann M Saunders; Allen D Roses; John Gilbert; Jeffery Vance; Jonathan L Haines; Margaret Pericak-Vance; Eden R Martin
Comprehensive association analysis of APOE regulatory region polymorphisms in Alzheimer disease.
Neurogenetics 2004;5(4):201-8.
2004: Sofia A Oliveira; William Scott; Fengyu Zhang; Jeffrey M Stajich; Kenichiro Fujiwara; Michael Hauser; Burton L Scott; Margaret Pericak-Vance; Jeffery Vance; Eden R Martin
Linkage disequilibrium and haplotype tagging polymorphisms in the Tau H1 haplotype.
Neurogenetics 2004;5(3):147-55.
2004: Elizabeth R Hauser; David C Crossman; Christopher B Granger; Jonathan L Haines; Christopher J H Jones; Vincent Mooser; Brendan McAdam; Bernhard R Winkelmann; Alan H Wiseman; J Brent Muhlestein; Alan G Bartel; Charles A Dennis; Elaine Dowdy; Susan Estabrooks; Karen Eggleston; Sheila Francis; Kath Roche; Paula W Clevenger; Liling Huang; Bonnie Pedersen; Svati Shah; Silke Schmidt; Carol Haynes; Sandra G West; Donny Asper; Michael Booze; Sanjay Sharma; Scott Sundseth; Lefkos Middleton; Allen D Roses; Michael A Hauser; Jeffery Vance; Margaret Pericak-Vance; William E Kraus
A genomewide scan for early-onset coronary artery disease in 438 families: the GENECARD Study.
American journal of human genetics 2004;75(3):436-47.
2004: Joelle M van der Walt; Yulia A Dementieva; Eden R Martin; William Scott; Kristin K Nicodemus; Charles C Kroner; Kathleen A Welsh-Bohmer; Ann M Saunders; Allen D Roses; Gary W Small; Donald E Schmechel; P Murali Doraiswamy; John Gilbert; Jonathan L Haines; Jeffery Vance; Margaret Pericak-Vance
Analysis of European mitochondrial haplogroups with Alzheimer disease risk.
Neuroscience letters 2004;365(1):28-32.
2004: Yi-Ju Li; Michael A Hauser; William Scott; Eden R Martin; Michael W Booze; Xue-Jun Qin; Jeffrey W Walter; Martha A Nance; Jean P Hubble; William Koller; Rajesh Pahwa; Matthew B Stern; Bradley C Hiner; Joseph Jankovic; Christopher G Goetz; Gary W Small; Frank L Mastaglia; Jonathan L Haines; Margaret Pericak-Vance; Jeffery Vance
Apolipoprotein E controls the risk and age at onset of Parkinson disease.
Neurology 2004;62(11):2005-9.
2004: K Toyama; H Morisaki; Y Kitamura; M Gross; T Tamura; Y Nakahori; Jeffery Vance; M Speer; N Kamatani; T Morisaki
Haplotype analysis of human AMPD1 gene: origin of common mutant allele.
Journal of medical genetics 2004;41(6):e74.
2004: Joelle M van der Walt; Maher A Noureddine; Raja Kittappa; Michael A Hauser; William Scott; Ron McKay; Fengyu Zhang; Jeffrey M Stajich; Kenichiro Fujiwara; Burton L Scott; Margaret Pericak-Vance; Jeffery Vance; Eden R Martin
Fibroblast growth factor 20 polymorphisms and haplotypes strongly influence risk of Parkinson disease.
American journal of human genetics 2004;74(6):1121-7.
2004: Stephan Zuchner; Irina V Mersiyanova; Maria Muglia; Nisrine Bissar-Tadmouri; Julie M Rochelle; Elena L Dadali; Mario Zappia; Eva Nelis; Alessandra Patitucci; Jan Senderek; Yesim Parman; Oleg V Evgrafov; Peter De Jonghe; Yuji Takahashi; Shoij Tsuji; Margaret Pericak-Vance; Aldo Quattrone; Esra Battaloglu; Alexander V Polyakov; Vincent Timmerman; J Michael Schröder; Jeffery Vance; Esra Battologlu
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
Nature genetics 2004;36(5):449-51.
2004: Perry C Gaskell; Jeffery Vance
Alzheimer's disease genes and genetic testing in clinical practice.
JAAPA : official journal of the American Academy of Physician Assistants 2004;17(3):25-6, 29-30, 32.
2004: Kimberly L Raiford; Yujun Shao; Irving Allen; Eden R Martin; Marisa M Menold; Harry H Wright; Ruth K Abramson; Gordon Worley; G Robert DeLong; Jeffery Vance; Michael Cuccaro; John Gilbert; Margaret Pericak-Vance
No association between the APOE gene and autism.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2004;125B(1):57-60.
2003: Yi-Ju Li; Sofia A Oliveira; Puting Xu; Eden R Martin; Judith E Stenger; Clemens R Scherzer; Michael A Hauser; William Scott; Gary W Small; Martha A Nance; Ray L Watts; Jean P Hubble; William Koller; Rajesh Pahwa; Matthew B Stern; Bradley C Hiner; Joseph Jankovic; Christopher G Goetz; Frank L Mastaglia; Lefkos T Middleton; Allen D Roses; Ann M Saunders; Donald E Schmechel; Steven R Gullans; Jonathan L Haines; John Gilbert; Jeffery Vance; Margaret Pericak-Vance; Christine M Hulette; Kathleen A Welsh-Bohmer
Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease.
Human molecular genetics 2003;12(24):3259-67.
2003: Yoshiharu Kawaguchi; Jeffrey J Kovacs; Adam C McLaurin; Jeffery Vance; Akihiro Ito; Tso-Pang Yao
The deacetylase HDAC6 regulates aggresome formation and cell viability in response to misfolded protein stress.
Cell 2003;115(6):727-38.
2003: William Scott; Elizabeth R Hauser; Donald E Schmechel; Kathleen A Welsh-Bohmer; Gary W Small; Allen D Roses; Ann M Saunders; John Gilbert; Jeffery Vance; Jonathan L Haines; Margaret Pericak-Vance
Ordered-subsets linkage analysis detects novel Alzheimer disease loci on chromosomes 2q34 and 15q22.
American journal of human genetics 2003;73(5):1041-51.
2003: Irene Voo; Bryan E Allf; Nitin Udar; Rosamaria Silva-Garcia; Jeffery Vance; Kent W Small
Hereditary motor and sensory neuropathy type VI with optic atrophy.
American journal of ophthalmology 2003;136(4):670-7.
2003: Sofia A Oliveira; Eden R Martin; William Scott; Kristin K Nicodemus; Gary W Small; Donald E Schmechel; P Murali Doraiswamy; Allen D Roses; Ann M Saunders; John Gilbert; Jonathan L Haines; Jeffery Vance; Margaret Pericak-Vance
The Q7R Saitohin gene polymorphism is not associated with Alzheimer disease.
Neuroscience letters 2003;347(3):143-6.
2003: Sofia A Oliveira; William Scott; Martha A Nance; Ray L Watts; Jean P Hubble; William Koller; Kelly E Lyons; Rajesh Pahwa; Matthew B Stern; Bradley C Hiner; Joseph Jankovic; William G Ondo; Fred H Allen; Burton L Scott; Christopher G Goetz; Gary W Small; Frank L Mastaglia; Jeffrey M Stajich; Fengyu Zhang; Michael W Booze; Joshua A Reaves; Lefkos T Middleton; Jonathan L Haines; Margaret Pericak-Vance; Jeffery Vance; Eden R Martin
Association study of Parkin gene polymorphisms with idiopathic Parkinson disease.
Archives of neurology 2003;60(7):975-80.
2003: Sofia A Oliveira; William Scott; Eden R Martin; Martha A Nance; Ray L Watts; Jean P Hubble; William Koller; Rajesh Pahwa; Matthew B Stern; Bradley C Hiner; William G Ondo; Fred H Allen; Burton L Scott; Christopher G Goetz; Gary W Small; Frank L Mastaglia; Jeffrey M Stajich; Fengyu Zhang; Michael W Booze; Michelle P Winn; Lefkos T Middleton; Jonathan L Haines; Margaret Pericak-Vance; Jeffery Vance
Parkin mutations and susceptibility alleles in late-onset Parkinson's disease.
Annals of neurology 2003;53(5):624-9.
2003: Anthony Antonellis; Rachel E Ellsworth; Nyamkhishig Sambuughin; Imke Puls; Annette Abel; Shih-Queen Lee-Lin; Albena Jordanova; Ivo Kremensky; Kyproula Christodoulou; Lefkos T Middleton; Kumaraswamy Sivakumar; Victor Ionasescu; Benoît Funalot; Jeffery Vance; Lev G Goldfarb; Kenneth H Fischbeck; Eric Green
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.
American journal of human genetics 2003;72(5):1293-9.
2003: Yuri Trembath; Carolyn Rosenberg; John F Ervin; Donald E Schmechel; Perry C Gaskell; Margaret Pericak-Vance; Jeffery Vance; Christine M Hulette
Lewy body pathology is a frequent co-pathology in familial Alzheimer's disease.
Acta neuropathologica 2003;105(5):484-8.
2003: Joelle M van der Walt; Eden R Martin; William Scott; Fengyu Zhang; Martha A Nance; Ray L Watts; Jean P Hubble; Jonathan L Haines; William Koller; Kelly E Lyons; Rajesh Pahwa; Matthew B Stern; Amy Colcher; Bradley C Hiner; Joseph Jankovic; William G Ondo; Fred H Allen; Christopher G Goetz; Gary W Small; Frank L Mastaglia; Allen D Roses; Jeffrey M Stajich; Michael W Booze; Kenichiro Fujiwara; R A Gibson; Lefkos T Middleton; Burton L Scott; Margaret Pericak-Vance; Jeffery Vance
Genetic polymorphisms of the N-acetyltransferase genes and risk of Parkinson's disease.
Neurology 2003;60(7):1189-91.
2003: Joelle M van der Walt; Kristin K Nicodemus; Eden R Martin; William Scott; Martha A Nance; Ray L Watts; Jean P Hubble; Jonathan L Haines; William Koller; Kelly E Lyons; Rajesh Pahwa; Matthew B Stern; Amy Colcher; Bradley C Hiner; Joseph Jankovic; William G Ondo; Fred H Allen; Christopher G Goetz; Gary W Small; Frank L Mastaglia; Jeffrey M Stajich; Adam C McLaurin; Lefkos T Middleton; Burton L Scott; Donald E Schmechel; Margaret Pericak-Vance; Jeffery Vance
Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease.
American journal of human genetics 2003;72(4):804-11.
2003: Michael A Hauser; Yi-Ju Li; Satoshi Takeuchi; Robert Walters; Maher A Noureddine; Melinda Maready; Tiffany Darden; Christine M Hulette; Eden R Martin; Elizabeth R Hauser; Hong Xu; Donald E Schmechel; Judith E Stenger; Fred S Dietrich; Jeffery Vance
Genomic convergence: identifying candidate genes for Parkinson's disease by combining serial analysis of gene expression and genetic linkage.
Human molecular genetics 2003;12(6):671-7.
2003: Regina M Carney; Chantelle M Wolpert; Sarah A Ravan; Mona Shahbazian; Allison Ashley-Koch; Michael Cuccaro; Jeffery Vance; Margaret Pericak-Vance
Identification of MeCP2 mutations in a series of females with autistic disorder.
Pediatric neurology 2003;28(3):205-11.
2002: Michael A Hauser; Cecilia B Conde; Valeria Kowaljow; Guillermo Zeppa; Ana L Taratuto; Udana M Torian; Jeffery Vance; Margaret Pericak-Vance; Marcy C Speer; Alberto L Rosa
myotilin Mutation found in second pedigree with LGMD1A.
American journal of human genetics 2002;71(6):1428-32.
2002: Marcy C Speer; Felicia L Graham; Erin Bonner; Keva Collier; Jeffrey M Stajich; Perry C Gaskell; Margaret Pericak-Vance; Jeffery Vance
Reduction in the minimum candidate interval in the dominant-intermediate form of Charcot-Marie-Tooth neuropathy to D19S586 to D19S432.
Neurogenetics 2002;4(2):83-5.
2002: William Scott; Jeffery Vance; Jonathan L Haines; Margaret Pericak-Vance
Linkage of Parkinsonism and Alzheimer's disease with Lewy body pathology to chromosome 12.
Annals of neurology 2002;52(4):524; author reply 524.
2002: John J Neary; Peter J Conlon; David Croke; Anthony M Dorman; Mary Keogan; Feng Yu Zhang; Jeffery Vance; Margaret Pericak-Vance; William Scott; Michelle P Winn
Linkage of a gene causing familial membranoproliferative glomerulonephritis type III to chromosome 1.
Journal of the American Society of Nephrology : JASN 2002;13(8):2052-7.
2002: Yi-Ju Li; William Scott; Dale Hedges; Fengyu Zhang; P Craig Gaskell; Martha A Nance; Ray L Watts; Jean P Hubble; William Koller; Rajesh Pahwa; Matthew B Stern; Bradley C Hiner; Joseph Jankovic; Fred A Allen; Christopher G Goetz; Frank Mastaglia; Jeffrey M Stajich; Rachel A Gibson; Lefkos T Middleton; Ann M Saunders; Burton L Scott; Gary W Small; Kristin K Nicodemus; Allison D Reed; Donald E Schmechel; Kathleen A Welsh-Bohmer; P Michael Conneally; Allen D Roses; John Gilbert; Jeffery Vance; Jonathan L Haines; Margaret Pericak-Vance
Age at onset in two common neurodegenerative diseases is genetically controlled.
American journal of human genetics 2002;70(4):985-93.
2002: Silke Schmidt; Lisa F Barcellos; Karen DeSombre; Jacqueline B Rimmler; Robin R Lincoln; Patricia Bucher; Ann M Saunders; Eric Lai; Eden R Martin; Jeffery Vance; Jorge R Oksenberg; Stephen L Hauser; Margaret Pericak-Vance; Jonathan L Haines
Association of polymorphisms in the apolipoprotein E region with susceptibility to and progression of multiple sclerosis.
American journal of human genetics 2002;70(3):708-17.
2002: Yujun Shao; Chantelle M Wolpert; Kimberly L Raiford; Marisa M Menold; Shannon L Donnelly; Sarah A Ravan; Meredyth P Bass; Cate McClain; Lennart von Wendt; Jeffery Vance; Ruth H Abramson; Harry H Wright; Allison Ashley-Koch; John Gilbert; Robert G DeLong; Michael Cuccaro; Margaret Pericak-Vance
Genomic screen and follow-up analysis for autistic disorder.
American journal of medical genetics 2002;114(1):99-105.
2002: Rachel V Baxter; Kamel Ben Othmane; Julie M Rochelle; Jason E Stajich; Christine M Hulette; Susan Dew-Knight; Faycal Hentati; Mongi Ben Hamida; S Bel; Judith E Stenger; John Gilbert; Margaret Pericak-Vance; Jeffery Vance
Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21.
Nature genetics 2002;30(1):21-2.
2001: Eden R Martin; William Scott; M A Nance; Ray L Watts; Jean P Hubble; William Koller; Kelly E Lyons; Rajesh Pahwa; Matthew B Stern; A Colcher; B C Hiner; Joseph Jankovic; William G Ondo; F H Allen; Christopher G Goetz; Gary W Small; D Masterman; F Mastaglia; N G Laing; J M Stajich; R C Ribble; M W Booze; A Rogala; M A Hauser; F Zhang; R A Gibson; L T Middleton; Allen D Roses; Jonathan L Haines; B L Scott; Margaret Pericak-Vance; Jeffery Vance
Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease.
JAMA : the journal of the American Medical Association 2001;286(18):2245-50.
2001: William Scott; M A Nance; Ray L Watts; Jean P Hubble; William Koller; Kelly E Lyons; Rajesh Pahwa; Matthew B Stern; A Colcher; B C Hiner; Joseph Jankovic; William G Ondo; F H Allen; Christopher G Goetz; Gary W Small; D Masterman; F Mastaglia; N G Laing; J M Stajich; B Slotterbeck; M W Booze; R C Ribble; Evadnie Rampersaud; Sandra G West; R A Gibson; L T Middleton; Allen D Roses; Jonathan L Haines; B L Scott; Jeffery Vance; Margaret Pericak-Vance
Complete genomic screen in Parkinson disease: evidence for multiple genes.
JAMA : the journal of the American Medical Association 2001;286(18):2239-44.
2001: Luca Rampoldi; Carol Dobson-Stone; JP Rubio; Adrian Danek; R M Chalmers; Nicholas W Wood; C Verellen; X Ferrer; Alessandro Malandrini; G M Fabrizi; R Brown; Jeffery Vance; Margaret Pericak-Vance; G Rudolf; S Carrè; E Alonso; M Manfredi; Andrea H Németh; Anthony P Monaco
A conserved sorting-associated protein is mutant in chorea-acanthocytosis.
Nature genetics 2001;28(2):119-20.
2001: John Gilbert; Jeffery Vance
Isolation of genomic DNA from mammalian cells.
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.] 2001;Appendix 3():Appendix 3B.
2001: Ingrid K Svenson; Allison E Ashley-Koch; Perry C Gaskell; TJ Riney; W J Cumming; H M Kingston; Edward Leo Hogan; Rose-Mary N Boustany; Jeffery Vance; Martha A Nance; Margaret Pericak-Vance; Douglas A Marchuk
Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.
American journal of human genetics 2001;68(5):1077-85.
2001: Allison Ashley-Koch; E R Bonner; Perry C Gaskell; Sandra G West; RW Tim; Chantelle M Wolpert; R Jones; C D Farrell; Martha Nance; Ingrid K Svenson; Douglas A Marchuk; Rose-Mary N Boustany; Jeffery Vance; William Scott; Margaret Pericak-Vance
Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia.
Neurogenetics 2001;3(2):91-7.
2001: R Rand Allingham; B Seo; Evadnie Rampersaud; ML Bembe; Pratap Challa; N Liu; T Parrish; L Karolak; John Gilbert; Margaret Pericak-Vance; Gordon K Klintworth; Jeffery Vance
A duplication in chromosome 4q35 is associated with hereditary benign intraepithelial dyskeratosis.
American journal of human genetics 2001;68(2):491-4.
2000: Ning-pu Liu; Susan Dew-Knight; M Rayner; Fridbert Jonasson; Tomoya O Akama; M N Fukuda; Wenjun Bao; John Gilbert; Jeffery Vance; Gordon K Klintworth
Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland.
Molecular vision 2000;6():261-4.
2000: Margaret Pericak-Vance; Janet Grubber; L R Bailey; Dale Hedges; Sandra G West; L Santoro; B Kemmerer; J L Hall; Ann M Saunders; Allen D Roses; Gary W Small; William Scott; PM Conneally; Jeffery Vance; Jonathan L Haines
Identification of novel genes in late-onset Alzheimer's disease.
Experimental gerontology 2000;35(9-10):1343-52.
2000: Michael A Hauser; stephen horrigan; Paula Salmikangas; U M Torian; Kristi D Viles; R Dancel; RW Tim; Anu Taivainen; L Bartoloni; JM Gilchrist; Jeffrey M Stajich; Perry C Gaskell; John Gilbert; Jeffery Vance; Margaret Pericak-Vance; Olli Carpen; Carol A Westbrook; Marcy C Speer
Myotilin is mutated in limb girdle muscular dystrophy 1A.
Human molecular genetics 2000;9(14):2141-7.
2000: Eden R Martin; Eric H Lai; John Gilbert; AR Rogala; A J Afshari; John Riley; K L Finch; J F Stevens; K J Livak; BD Slotterbeck; Susan H Slifer; LL Warren; PM Conneally; Donald E Schmechel; Ian Purvis; Margaret Pericak-Vance; Allen D Roses; Jeffery Vance
SNPing away at complex diseases: analysis of single-nucleotide polymorphisms around APOE in Alzheimer disease.
American journal of human genetics 2000;67(2):383-94.
2000: Ning-pu Liu; Susan Dew-Knight; Fridbert Jonasson; John Gilbert; Gordon K Klintworth; Jeffery Vance
Physical and genetic mapping of the macular corneal dystrophy locus on chromosome 16q and exclusion of TAT and LCAT as candidate genes.
Molecular vision 2000;6():95-100.
2000: Martha A Nance; F Q Nuttall; Michael J Econs; K W Lyles; Kristi D Viles; Jeffery Vance; Margaret Pericak-Vance; Marcy C Speer
Heterogeneity in Paget disease of the bone.
American journal of medical genetics 2000;92(5):303-7.
2000: Chantelle M Wolpert; Marisa M Menold; Meredyth P Bass; Mazin B Qumsiyeh; Shannon L Donnelly; Sarah A Ravan; Jeffery Vance; John Gilbert; Ruth K Abramson; Harry H Wright; Michael Cuccaro; Margaret Pericak-Vance
Three probands with autistic disorder and isodicentric chromosome 15.
American journal of medical genetics 2000;96(3):365-72.
2000: Jeffery Vance
The many faces of Charcot-Marie-Tooth disease.
Archives of neurology 2000;57(5):638-40.
2000: Núria López-Bigas; Raquel Rabionet; E Martínez; Isabel Banchs; Victor Volpini; Jeffery Vance; Maria L Arbonés; Xavier Estivill
Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene.
Human mutation 2000;15(5):481-2.
2000: Meredyth P Bass; Marisa M Menold; Chantelle M Wolpert; Shannon L Donnelly; Sarah A Ravan; Elizabeth R Hauser; Lee Maddox; Jeffery Vance; Ruth K Abramson; Harry H Wright; John Gilbert; Michael Cuccaro; G Robert DeLong; Margaret Pericak-Vance
Genetic studies in autistic disorder and chromosome 15.
Neurogenetics 2000;2(4):219-26.
2000: Eden R Martin; Marisa M Menold; Chantelle M Wolpert; Meredyth P Bass; Shannon L Donnelly; Sarah A Ravan; Andrew W Zimmerman; John Gilbert; Jeffery Vance; Lee Maddox; Harry H Wright; Ruth K Abramson; G Robert DeLong; Michael Cuccaro; Margaret Pericak-Vance
Analysis of linkage disequilibrium in gamma-aminobutyric acid receptor subunit genes in autistic disorder.
American journal of medical genetics 2000;96(1):43-8.
2000: Elizabeth C Melvin; Timothy M George; Gordon Worley; A Franklin; Joanne Mackey; Kristi D Viles; N Shah; C R Drake; David S Enterline; D McLone; Jeffrey S Nye; W J Oakes; Colleen McLaughlin; M L Walker; P Peterson; Timothy J Brei; C Buran; J Aben; B Ohm; I Bermans; Mazin B Qumsiyeh; Jeffery Vance; Margaret Pericak-Vance; Marcy C Speer
Genetic studies in neural tube defects. NTD Collaborative Group.
Pediatric neurosurgery 2000;32(1):1-9.
2000: Eden R Martin; John Gilbert; Eric H Lai; John Riley; AR Rogala; BD Slotterbeck; C A Sipe; Janet Grubber; LL Warren; PM Conneally; Ann M Saunders; Donald E Schmechel; Ian Purvis; Margaret Pericak-Vance; Allen D Roses; Jeffery Vance
Analysis of association at single nucleotide polymorphisms in the APOE region.
Genomics 2000;63(1):7-12.
1999: K B Othmane; E Johnson; Marisa M Menold; Felicia L Graham; MB Hamida; O Hasegawa; A D Rogala; A Ohnishi; Margaret Pericak-Vance; Faycal Hentati; Jeffery Vance
Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15.
Genomics 1999;62(3):344-9.
1999: Lee Maddox; Marisa M Menold; Meredyth P Bass; AR Rogala; Margaret Pericak-Vance; Jeffery Vance; John Gilbert
Autistic disorder and chromosome 15q11-q13: construction and analysis of a BAC/PAC contig.
Genomics 1999;62(3):325-31.
1999: Allison Ashley-Koch; Chantelle M Wolpert; Marisa M Menold; L Zaeem; S Basu; Shannon L Donnelly; Sarah A Ravan; CM Powell; Mazin B Qumsiyeh; Arthur S Aylsworth; Jeffery Vance; John Gilbert; Harry H Wright; Ruth K Abramson; G Robert DeLong; Michael Cuccaro; Margaret Pericak-Vance
Genetic studies of autistic disorder and chromosome 7.
Genomics 1999;61(3):227-36.
1999: Jeffery Vance
Charcot-Marie-Tooth disease type 2.
Annals of the New York Academy of Sciences 1999;883():42-6.
1999: Ludwine MESSIAEN; Tom Callens; K J Roux; Geert R Mortier; Anne De Paepe; M Abramowicz; Margaret Pericak-Vance; Jeffery Vance; M R Wallace
Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing.
Genetics in medicine : official journal of the American College of Medical Genetics 1999;1(6):248-53.
1999: William Scott; LH Yamaoka; Jeffrey M Stajich; Burton L Scott; Jeffery Vance; Allen D Roses; Margaret Pericak-Vance; Ray L Watts; Martha Nance; Jean P Hubble; William Koller; Matthew B Stern; Amy Colcher; F H Allen; Bradley C Hiner; Joseph Jankovic; William G Ondo; N G Laing; F Mastaglia; Christopher G Goetz; E Pappert; Gary W Small; D Masterman; Jonathan L Haines; T L Davies
The alpha-synuclein gene is not a major risk factor in familial Parkinson disease.
Neurogenetics 1999;2(3):191-2.
1999: Monica A De La Paz; V K Guy; S Abou-Donia; R Heinis; B Bracken; Jeffery Vance; John Gilbert; J D Gass; Jonathan L Haines; Margaret Pericak-Vance
Analysis of the Stargardt disease gene (ABCR) in age-related macular degeneration.
Ophthalmology 1999;106(8):1531-6.
1999: Michelle P Winn; Peter J Conlon; Kelvin L Lynn; David N Howell; BD Slotterbeck; A H Smith; Felicia L Graham; ML Bembe; L Darryl Quarles; Margaret Pericak-Vance; Jeffery Vance
Linkage of a gene causing familial focal segmental glomerulosclerosis to chromosome 11 and further evidence of genetic heterogeneity.
Genomics 1999;58(2):113-20.
1999: E A Rogaeva; S Premkumar; Janet Grubber; L Serneels; William Scott; T Kawarai; Y Song; D L Hill; S M Abou-Donia; Eden R Martin; Jeffery Vance; Gang G. Yu; A Orlacchio; Y Pei; M Nishimura; Agnes Supala; B Roberge; Ann M Saunders; Allen D Roses; Donald E Schmechel; A Crane-Gatherum; Sandro Sorbi; A Bruni; Gary W Small; P M Conneally; Jonathan L Haines; Fred Van Leuven; Peter St George-Hyslop; Lindsay A Farrer; Margaret Pericak-Vance
An alpha-2-macroglobulin insertion-deletion polymorphism in Alzheimer disease.
Nature genetics 1999;22(1):19-22.
1999: Michelle P Winn; Peter J Conlon; Kelvin L Lynn; David N Howell; D A Gross; AR Rogala; A H Smith; Felicia L Graham; ML Bembe; L Darryl Quarles; Margaret Pericak-Vance; Jeffery Vance
Clinical and genetic heterogeneity in familial focal segmental glomerulosclerosis. International Collaborative Group for the Study of Familial Focal Segmental Glomerulosclerosis.
Kidney international 1999;55(4):1241-6.
1999: stephen horrigan; L Bartoloni; Marcy C Speer; Noreen Fulton; J Kravarusic; Rajkumar Ramesar; Jeffery Vance; LH Yamaoka; Carol A Westbrook
A radiation hybrid breakpoint map of the acute myeloid leukemia (AML) and limb-girdle muscular dystrophy 1A (LGMD1A) regions of chromosome 5q31 localizing 122 expressed sequences.
Genomics 1999;57(1):24-35.
1999: Marcy C Speer; Jeffery Vance; Janet Grubber; F Lennon Graham; Jeffrey M Stajich; Kristi D Viles; AR Rogala; R McMichael; J Chutkow; C Goldsmith; RW Tim; Margaret Pericak-Vance
Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7.
American journal of human genetics 1999;64(2):556-62.
1999: JL Anderson; M Khan; WS David; Z Mahdavi; F Q Nuttall; E Krech; Sandra G West; Jeffery Vance; Margaret Pericak-Vance; Martha A Nance
Confirmation of linkage of hereditary partial lipodystrophy to chromosome 1q21-22.
American journal of medical genetics 1999;82(2):161-5.
1999: Peter White; Anne Forus; Tara C Matise; Brian C Schutte; N Spieker; P Stanier; Jeffery Vance; Simon G Gregory
Report of the fifth international workshop on human chromosome 1 mapping 1999.
Cytogenetics and cell genetics 1999;87(3-4):143-71.
1998: K Ben Othmane; Julie M Rochelle; Mongi Ben Hamida; BD Slotterbeck; N Rao; Faycal Hentati; Margaret Pericak-Vance; Jeffery Vance
Fine localization of the CMT4A locus using a PAC contig and haplotype analysis.
Neurogenetics 1998;2(1):18-23.
1998: L Bartoloni; stephen horrigan; Kristi D Viles; JM Gilchrist; Jeffrey M Stajich; Jeffery Vance; LH Yamaoka; Margaret Pericak-Vance; Carol A Westbrook; Marcy C Speer
Use of a CEPH meiotic breakpoint panel to refine the locus of limb-girdle muscular dystrophy type 1A (LGMD1A) to a 2-Mb interval on 5q31.
Genomics 1998;54(2):250-5.
1998: Marisa M Menold; M Sadeh; F Lennon; Ilan Blatt; Y Goldhammer; LH Yamaoka; Jeffery Vance; Margaret Pericak-Vance
Evidence for genetic heterogeneity supports clinical differences in congenital myasthenic syndromes.
Human heredity 1998;48(6):325-32.
1998: Ning-pu Liu; J Baldwin; Fridbert Jonasson; Susan Dew-Knight; Jeffrey M Stajich; F Lennon; Margaret Pericak-Vance; Gordon K Klintworth; Jeffery Vance
Haplotype analysis in Icelandic families defines a minimal interval for the macular corneal dystrophy type I gene.
American journal of human genetics 1998;63(3):912-7.
1998: Marcy C Speer; Jeffery Vance; F Lennon-Graham; Jeffrey M Stajich; Kristi D Viles; JM Gilchrist; V Nigro; R McMichael; J G Chutkow; L Bartoloni; stephen horrigan; Carol A Westbrook; Margaret Pericak-Vance
Exclusion of identified LGMD1 loci from four dominant limb-girdle muscular dystrophy families.
Human heredity 1998;48(4):179-84.
1998: Te-Cheng Pan; Rui-Zhu Zhang; Margaret Pericak-Vance; Rup Tandan; Timothy J Fries; Jeffrey M Stajich; Kristi D Viles; Jeffery Vance; Mon-Li Chu; Marcy C Speer
Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy.
Human molecular genetics 1998;7(5):807-12.
1998: Ning-pu Liu; J Baldwin; F Lennon; Jeffrey M Stajich; EJ Thonar; Margaret Pericak-Vance; Gordon K Klintworth; Jeffery Vance
Coexistence of macular corneal dystrophy types I and II in a single sibship.
The British journal of ophthalmology 1998;82(3):241-4.
1998: Karim F Damji; Carol J Gallione; R Rand Allingham; BD Slotterbeck; Alan E Guttmacher; K A Pasyk; Jeffery Vance; Margaret Pericak-Vance; Marcy C Speer; Douglas A Marchuk
Quantitative DNA pooling to increase the efficiency of linkage analysis in autosomal dominant disease.
Human genetics 1998;102(2):207-12.
1997: Margaret Pericak-Vance; Meredyth P Bass; LH Yamaoka; Perry C Gaskell; William Scott; H A Terwedow; Marisa M Menold; PM Conneally; Gary W Small; Jeffery Vance; Ann M Saunders; Allen D Roses; Jonathan L Haines
Complete genomic screen in late-onset familial Alzheimer disease. Evidence for a new locus on chromosome 12.
JAMA : the journal of the American Medical Association 1997;278(15):1237-41.
1997: Jeffrey M Stajich; JM Gilchrist; F Lennon; A Lee; LH Yamaoka; B Rosi; Perry C Gaskell; M Pritchard; L Donald; Allen D Roses; Jeffery Vance; Margaret Pericak-Vance
Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13 in American families suggests the existence of a second causal mutation.
Neuromuscular disorders : NMD 1997;7 Suppl 1():S75-81.
1997: JP Rubio; Adrian Danek; C Stone; R Chalmers; N Wood; C Verellen; X Ferrer; Alessandro Malandrini; G M Fabrizi; M Manfredi; Jeffery Vance; Margaret Pericak-Vance; R Brown; G Rudolf; F Picard; E Alonso; M Brin; Andrea H Németh; Martin Farrall; Anthony P Monaco
Chorea-acanthocytosis: genetic linkage to chromosome 9q21.
American journal of human genetics 1997;61(4):899-908.
1997: Marcy C Speer; Margaret Pericak-Vance; Jeffrey M Stajich; J Sarrica; M Jordan; Allen D Roses; Jeffery Vance; John Gilbert
Further exclusion of FSHD1B from the telomeric region of 10q.
Neurogenetics 1997;1(2):151-2.
1997: William Scott; Perry C Gaskell; F Lennon; Chantelle M Wolpert; Marisa M Menold; Arthur S Aylsworth; C Warner; C D Farrell; Rose-Mary N Boustany; S G Albright; E Boyd; H M Kingston; W J Cumming; Jeffery Vance; Margaret Pericak-Vance
Locus heterogeneity, anticipation and reduction of the chromosome 2p minimal candidate region in autosomal dominant familial spastic paraplegia.
Neurogenetics 1997;1(2):95-102.
1997: Margaret Pericak-Vance; Marcy C Speer; F Lennon; Sandra G West; Marisa M Menold; Jeffrey M Stajich; Chantelle M Wolpert; BD Slotterbeck; M Saito; RW Tim; M P Rozear; Lefkos T Middleton; S Tsuji; Jeffery Vance
Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity.
Neurogenetics 1997;1(2):89-93.
1997: William Scott; J M Staijich; LH Yamaoka; Marcy C Speer; Jeffery Vance; Allen D Roses; Margaret Pericak-Vance
Genetic complexity and Parkinson's disease. Deane Laboratory Parkinson Disease Research Group.
Science (New York, N.Y.) 1997;277(5324):387-8; author reply 389.
1997: Jeffery Vance; Tara C Matise; R Wooster; Brian C Schutte; G A Bruns; N van Roy; Garrett M Brodeur; Y X Tao; S Gregory; A Weith; M Vaudin; P White
Report and abstracts of the third international workshop on human chromosome 1 mapping 1997.
Cytogenetics and cell genetics 1997;78(3-4):154-82.
1996: Osamu Onodera; Allen D Roses; S Tsuji; Jeffery Vance; Warren J Strittmatter; James R Burke
Toxicity of expanded polyglutamine-domain proteins in Escherichia coli.
FEBS letters 1996;399(1-2):135-9.
1996: Jeffrey M Stajich; JM Gilchrist; F Lennon; A Lee; LH Yamaoka; B Helms; Perry C Gaskell; L Donald; Allen D Roses; Jeffery Vance; Margaret Pericak-Vance
Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13.
Annals of neurology 1996;40(5):801-4.
1996: Elizabeth McNally; Maria Rita Passos-Bueno; Carsten G Bönnemann; Mariz Vainzof; E de Sá Moreira; Hart G W Lidov; K B Othmane; P H Denton; Jeffery Vance; Mayana Zatz; Louis Kunkel
Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation.
American journal of human genetics 1996;59(5):1040-7.
1996: Marcy C Speer; Rup Tandan; P N Rao; T Fries; Jeffrey M Stajich; PA Bolhuis; G Joost Jöbsis; Jeffery Vance; Kristi D Viles; K Sheffield; C James; SG Kahler; M Pettenati; John Gilbert; P H Denton; LH Yamaoka; Margaret Pericak-Vance
Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37.
Human molecular genetics 1996;5(7):1043-6.
1996: Jeffery Vance; Marcy C Speer; Jeffrey M Stajich; Sandra G West; Chantelle M Wolpert; Perry C Gaskell; F Lennon; R M Tim; M Rozear; K B Othmane
Misclassification and linkage of hereditary sensory and autonomic neuropathy type 1 as Charcot-Marie-Tooth disease, type 2B.
American journal of human genetics 1996;59(1):258-62.
1996: K W Small; S C Pollock; Jeffery Vance; Jeffrey M Stajich; Margaret Pericak-Vance
Ocular motility in North Carolina autosomal dominant ataxia.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 1996;16(2):91-5.
1996: Vincent Timmerman; Peter De Jonghe; P Spoelders; S Simokovic; Ann Löfgren; Eva Nelis; Jeffery Vance; Jean-Jacques Martin; Christine Van Broeckhoven
Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13.
Neurology 1996;46(5):1311-8.
1996: Karim F Damji; R Rand Allingham; S C Pollock; K Small; K E Lewis; Jeffrey M Stajich; LH Yamaoka; Jeffery Vance; Margaret Pericak-Vance
Periodic vestibulocerebellar ataxia, an autosomal dominant ataxia with defective smooth pursuit, is genetically distinct from other autosomal dominant ataxias.
Archives of neurology 1996;53(4):338-44.
1996: Jeffery Vance; Fridbert Jonasson; F Lennon; J Sarrica; Karim F Damji; J Stauffer; Margaret Pericak-Vance; Gordon K Klintworth
Linkage of a gene for macular corneal dystrophy to chromosome 16.
American journal of human genetics 1996;58(4):757-62.
1996: James R Burke; J J Enghild; M E Martin; Y S Jou; Richard Myers; Allen D Roses; Jeffery Vance; Warren J Strittmatter
Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH.
Nature medicine 1996;2(3):347-50.
1996: Warren J Strittmatter; James R Burke; V S DeSerrano; D Y Huang; William D. Matthew; Ann M Saunders; B L Scott; Jeffery Vance; Karl H Weisgraber; Allen D Roses
Protein: protein interactions in Alzheimer's disease and the CAG triplet repeat diseases.
Cold Spring Harbor symposia on quantitative biology 1996;61():597-605.
1996: Andreas Weith; Garrett M Brodeur; G A Bruns; Tara C Matise; Dietmar Mischke; Dean Nizetic; Michael F Seldin; N van Roy; Jeffery Vance
Report of the second international workshop on human chromosome 1 mapping 1995.
Cytogenetics and cell genetics 1996;72(2-3):114-44.
1995: Satoru Noguchi; Elizabeth McNally; K Ben Othmane; Y Hagiwara; Y Mizuno; Mikiharu Yoshida; H Yamamoto; Carsten G Bönnemann; Emanuela Gussoni; P H Denton; T Kyriakides; Lefkos T Middleton; Faycal Hentati; Mongi Ben Hamida; I Nonaka; Jeffery Vance; Louis Kunkel; Eijiro Ozawa
Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy.
Science (New York, N.Y.) 1995;270(5237):819-22.
1995: John Gilbert; Marcy C Speer; Jeffrey M Stajich; R Clancy; K Lewis; H Qiu; LH Yamaoka; A Kumar; Jeffery Vance; C Stewart
Exclusion mapping of chromosomal regions which cross hybridise to FSHD1A associated markers in FSHD1B.
Journal of medical genetics 1995;32(10):770-3.
1995: K B Othmane; D Loeb; R Hayworth-Hodgte; Faycal Hentati; N Rao; Allen D Roses; Mongi Ben Hamida; Margaret Pericak-Vance; Jeffery Vance
Physical and genetic mapping of the CMT4A locus and exclusion of PMP-2 as the defect in CMT4A.
Genomics 1995;28(2):286-90.
1994: James R Burke; T Ikeuchi; R Koide; S Tsuji; M Yamada; Margaret Pericak-Vance; Jeffery Vance
Dentatorubral-pallidoluysian atrophy and Haw River syndrome.
Lancet 1994;344(8938):1711-2.
1994: D B Loeb; Margaret Pericak-Vance; Jeffrey M Stajich; Jeffery Vance
A novel mutation in the von Hippel-Lindau gene.
Human molecular genetics 1994;3(8):1423-4.
1994: James R Burke; M S Wingfield; K E Lewis; Allen D Roses; J E Lee; C Hulette; Margaret Pericak-Vance; Jeffery Vance
The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family.
Nature genetics 1994;7(4):521-4.
1994: P H Denton; J B Cullen; D Loeb; A Lucas; K Nunes; C Hulett; Jeffery Vance
Partitioned pulsed-field gel electrophoresis-PCR (PPF-PCR): a new method for pulsed-field mapping for STS and microsatellites.
Nucleic acids research 1994;22(9):1776-7.
1994: D Loeb; W Lui; David I Smith; Jeffery Vance
Dinucleotide repeat polymorphism in the VHL region.
Human molecular genetics 1994;3(3):520.
1994: Joelle Roche; E Whisenant; F Boldog; D Loeb; Jeffery Vance; Harry A Drabkin
Dinucleotide repeats flanking the renal carcinoma breakpoint at 3p14.2.
Human molecular genetics 1994;3(1):215.
1994: N C Dracopoli; G A Bruns; Garrett M Brodeur; Gregory M Landes; Tara C Matise; Michael F Seldin; Jeffery Vance; Andreas Weith
Report and abstracts of the First International Workshop on Human Chromosome 1 Mapping 1994. Bethesda, Maryland, March 25-27, 1994.
Cytogenetics and cell genetics 1994;67(3):144-65.
1993: D Loeb; W Lui; David I Smith; Jeffery Vance
Dinucleotide repeat polymorphisms in the VHL region of human chromosome 3p25.
Human molecular genetics 1993;2(10):1746.
1993: K Ben Othmane; Faycal Hentati; F Lennon; Christiane Ben Hamida; S Blel; Allen D Roses; Margaret Pericak-Vance; Mongi Ben Hamida; Jeffery Vance
Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q.
Human molecular genetics 1993;2(10):1625-8.
1993: John Gilbert; Jeffrey M Stajich; S Wall; S C Carter; H Qiu; Jeffery Vance; C S Stewart; Marcy C Speer; J Pufky; LH Yamaoka
Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD).
American journal of human genetics 1993;53(2):401-8.
1993: W Liu; Marie P Piechocki; V Shridhar; G Lyles; Z Song; Y Nakamura; Harry A Drabkin; Jeffery Vance; David I Smith
The isolation of a yeast artificial chromosome (YAC) contig extending for 2 megabases in the vicinity of the von Hippel Lindau disease gene.
Human molecular genetics 1993;2(8):1177-82.
1992: John Gilbert; Jeffrey M Stajich; Marcy C Speer; Jeffery Vance; C S Stewart; LH Yamaoka; F Samson; M Fardeau; T G Potter; Allen D Roses
Linkage studies in facioscapulohumeral muscular dystrophy (FSHD).
American journal of human genetics 1992;51(2):424-7.
1992: Kent W Small; J L Weber; Allen D Roses; F Lennon; Jeffery Vance; Margaret Pericak-Vance
North Carolina macular dystrophy is assigned to chromosome 6.
Genomics 1992;13(3):681-5.
1992: Marcy C Speer; LH Yamaoka; J H Gilchrist; C P Gaskell; Jeffrey M Stajich; Jeffery Vance; A Kazantsev; A A Lastra; CS Haynes; Jacques Beckmann
Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q.
American journal of human genetics 1992;50(6):1211-7.
1992: C Pritchard; N Zhu; J Zuo; Laura N Bull; Margaret Pericak-Vance; Jeffery Vance; Allen D Roses; A Milatovich; U Francke; D R Cox
Recombination of 4p16 DNA markers in an unusual family with Huntington disease.
American journal of human genetics 1992;50(6):1218-30.
1992: W Liu; Jeffery Vance; David I Smith
cA479 (D3S719): a cosmid mapped telomeric of the Von Hippel Lindau disease gene contains the D3S18 locus.
Human molecular genetics 1992;1(3):201.
1992: L J Loprest; Margaret Pericak-Vance; Jeffrey M Stajich; Perry C Gaskell; A M Lucas; F Lennon; LH Yamaoka; Allen D Roses; Jeffery Vance
Linkage studies in Charcot-Marie-Tooth disease type 2: evidence that CMT types 1 and 2 are distinct genetic entities.
Neurology 1992;42(3 Pt 1):597-601.
1991: Kent W Small; J L Weber; Wu-Yen Hung; Jeffery Vance; Allen D Roses; Margaret Pericak-Vance
North Carolina macular dystrophy: exclusion map using RFLPs and microsatellites.
Genomics 1991;11(3):763-6.
1991: A M Lucas; Jeffery Vance; Jeffrey M Stajich; Allen D Roses
A PvuII polymorphism detected by pEW404 (D17S64) on chromosome 17.
Nucleic acids research 1991;19(20):5802.
1991: Jeffery Vance; D Barker; LH Yamaoka; Jeffrey M Stajich; L Loprest; Wu-Yen Hung; Kenneth H Fischbeck; Allen D Roses; Margaret Pericak-Vance
Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2.
Genomics 1991;9(4):623-8.
1991: Jeffery Vance
Hereditary motor and sensory neuropathies.
Journal of medical genetics 1991;28(1):1-5.
1990: Jeffery Vance; Kent W Small; M A Jones; Jeffrey M Stajich; LH Yamaoka; Allen D Roses; Wu-Yen Hung; Margaret Pericak-Vance
Confirmation of linkage in von Hippel-Lindau disease.
Genomics 1990;6(3):565-7.
1989: Jeffery Vance; G A Nicholson; LH Yamaoka; Jeffrey M Stajich; C S Stewart; Marcy C Speer; Wu-Yen Hung; Allen D Roses; D Barker; Margaret Pericak-Vance
Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17.
Experimental neurology 1989;104(2):186-9.
1989: Jeffery Vance; Margaret Pericak-Vance; LH Yamaoka; Marcy C Speer; G O Rosenwasser; Kent W Small; Perry C Gaskell; Wu-Yen Hung; Mark J Alberts; CS Haynes
Genetic linkage mapping of chromosome 17 markers and neurofibromatosis type I.
American journal of human genetics 1989;44(1):25-9.
1988: Marcy C Speer; Margaret Pericak-Vance; LH Yamaoka; James Koh; Wu-Yen Hung; Perry C Gaskell; Jeffery Vance; R J Bartlett; Allen D Roses
Prenatal diagnosis using deletion studies in Duchenne muscular dystrophy.
Prenatal diagnosis 1988;8(6):427-37.
1988: Margaret Pericak-Vance; Wu-Yen Hung; LH Yamaoka; CS Haynes; R J Bartlett; Jeffery Vance; J Lee; Teepu Siddique; Perry C Gaskell; Jeffrey M Stajich
Systematic gene mapping in man: data management considerations.
Australian paediatric journal 1988;24 Suppl 1():87-9.
1987: Margaret Pericak-Vance; LH Yamaoka; Jeffery Vance; Kent W Small; G O Rosenwasser; Perry C Gaskell; Wu-Yen Hung; Mark J Alberts; CS Haynes; Marcy C Speer
Genetic linkage studies of chromosome 17 RFLPs in von Recklinghausen neurofibromatosis (NF1).
Genomics 1987;1(4):349-52.
1987: Jeffery Vance; Margaret Pericak-Vance; M H Bowman; C S Payne; L Fredane; Teepu Siddique; Allen D Roses; E W Massey
Chorea-acanthocytosis: a report of three new families and implications for genetic counselling.
American journal of medical genetics 1987;28(2):403-10.
1987: Margaret Pericak-Vance; LH Yamaoka; Jeffery Vance; Arthur S Aylsworth; G O Rossenwasser; Perry C Gaskell; Mark J Alberts; Wu-Yen Hung; CS Haynes; Allen D Roses
Linkage studies in peripheral neurofibromatosis.
Journal of medical genetics 1987;24(9):530-2.
1985: Margaret Pericak-Vance; Jeffery Vance; R C Elston; K K Namboodiri; T A Fogle
Segregation and linkage analysis of alpha-N-acetyl-D-glucosaminidase (NAG) levels in a black family.
American journal of medical genetics 1985;20(2):295-306.
1983: Allen D Roses; Margaret Pericak-Vance; LH Yamaoka; E Stubblefield; Jeffrey M Stajich; Jeffery Vance; M J Roses; D B Carter
Recombinant DNA strategies in genetic neurological diseases.
Muscle & nerve 1983;6(5):339-55.
1982: L H Yamaoka; Jeffery Vance; Allen D Roses
Myotonic muscular dystrophy. Calcium-dependent phosphatidate metabolism in the erythrocyte membrane.
Journal of the neurological sciences 1982;54(2):173-9.
1981: Jeffery Vance; P M Conneally; R S Wappner; P L Yu; I K Brandt; Margaret Pericak-Vance
Carrier detection in Sanfilippo syndrome type B: report of six families.
Clinical genetics 1981;20(2):135-40.
1980: Jeffery Vance; Margaret Pericak-Vance; R C Elston; P M Conneally; K K Namboodiri; R S Wappner; P L Yu
Evidence of genetic variation for alpha-N-acetyl-D-glucosaminidase in black and white populations: a new polymorphism.
American journal of medical genetics 1980;7(2):131-40.
1978: Margaret Pericak-Vance; P M Conneally; A D Merritt; R Roos; J A Norton; Jeffery Vance
Genetic linkage studies in Huntington disease.
Cytogenetics and cell genetics 1978;22(1-6):640-5.