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1

Three probands with autistic disorder and isodicentric chromosome 15

Chantelle M. Wolpert, Marisa M. Menold, Meredyth P. Bass, Mazin B. Qumsiyeh, Shannon L. Donnelly, Sarah A. Ravan, Jeffery M. Vance, John R. Gilbert, Ruth K. Abramson, Harry H. Wright, Michael L. Cucca

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 172 KB

english, 2000

2

Genomic screen and follow-up analysis for autistic disorder

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 M. Vance, Ruth H. Abramson, Har

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 108 KB

english, 2002

3

Recombinant DNA strategies in genetic neurological diseases

Dr. Allen D. Roses, Dr. Margaret A. Pericak-Vance, Dr. Larry H. Yamaoka, Dr. Elton Stubblefield, Mr. Jeffery Stajich, Dr. Jeffery M. Vance, Ms. Marcia J. Roses, Donald B. Carter

Journal:

Year:

1983

Language:

english

File:

PDF, 1.84 MB

english, 1983

4

A noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism

John P Hussman, Ren-Hua Chung, Anthony J Griswold, James M Jaworski, Daria Salyakina, Deqiong Ma, Ioanna Konidari, Patrice L Whitehead, Jeffery M Vance, Eden R Martin, Michael L Cuccaro, John R Gilber

Journal:

Molecular Autism

Year:

2011

Language:

english

File:

PDF, 1.36 MB

english, 2011

5

Genetic effects in the leukotriene biosynthesis pathway and association with atherosclerosis

David R. Crosslin, Svati H. Shah, Sarah C. Nelson, Carol S. Haynes, Jessica J. Connelly, Shera Gadson, Pascal J. Goldschmidt-Clermont, Jeffery M. Vance, Jason Rose, Chris B. Granger, David Seo, Simon

Journal:

Year:

2009

Language:

english

File:

PDF, 316 KB

english, 2009

6

Autistic Disorder and Chromosome 15q11–q13: Construction and Analysis of a BAC/PAC Contig

Lewis O. Maddox, Marisa M. Menold, Meredyth P. Bass, Allison R. Rogala, Margaret A. Pericak-Vance, Jeffery M. Vance, John R. Gilbert

Journal:

Year:

1999

Language:

english

File:

PDF, 90 KB

english, 1999

7

The mtDNA Mutation Spectrum of the Progeroid Polg Mutator Mouse Includes Abundant Control Region Multimers

Siôn L. Williams, Jia Huang, Yvonne J.K. Edwards, Rick H. Ulloa, Lloye M. Dillon, Tomas A. Prolla, Jeffery M. Vance, Carlos T. Moraes, Stephan Züchner

Journal:

Cell Metabolism

Year:

2010

Language:

english

File:

PDF, 760 KB

english, 2010

8

Next generation sequencing as a means to detect low frequency mtDNA variants

Siôn Ll. Williams⁎, Jia Huang, Yvonne Edwards, Richard Ulla, Alicia Pickrell, Lloye Dillon, Sandra Bacman, Jeffery Vance, Stephan Zuchner, Carlos T. Moraes

Journal:

Year:

2011

Language:

english

File:

PDF, 57 KB

english, 2011

9

Vitamin D from different sources is inversely associated with Parkinson disease

Wang, Liyong, Evatt, Marian L., Maldonado, Lizmarie G., Perry, William R., Ritchie, James C., Beecham, Gary W., Martin, Eden R., Haines, Jonathan L., Pericak-Vance, Margaret A., Vance, Jeffery M., Sco

Journal:

Movement Disorders

Year:

2015

Language:

english

File:

PDF, 316 KB

english, 2015

10

Confirmation of linkage of hereditary partial lipodystrophy to chromosome 1q21-22

Anderson, Jennifer L., Khan, Mehmood, David, William S., Mahdavi, Zohreh, Nuttall, Frank Q., Krech, Elizabeth, West, Sandra G., Vance, Jeffery M., Pericak-Vance, Margaret A., Nance, Martha A.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 381 KB

english, 1999

11

Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene

Núria López-Bigas, Raquel Rabionet, Elisabeth Martínez, Isabel Banchs, Víctor Volpini, Jeffery M. Vance, Maria Lourdes Arbonés, Xavier Estivill

Journal:

Year:

2000

Language:

english

File:

PDF, 16 KB

english, 2000

12

Heterogeneity in Paget disease of the bone

Martha A. Nance, Frank Q. Nuttall, Michael J. Econs, Kenneth W. Lyles, Kristi D. Viles, Jeffery M. Vance, Margaret A. Pericak-Vance, Marcy C. Speer

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 134 KB

english, 2000

13

Chorea-acanthocytosis: A report of three new families and implications for genetic counselling

Dr. Jeffery M. Vance, Margaret A. Pericak-Vance, Michael H. Bowman, Cynthia S. Payne, Louis Fredane, Teepu Siddique, Allen D. Roses, E. Wayne Massey, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 470 KB

english, 1987

14

A genome-wide linkage analysis of dementia in the Amish

Daniel W. Hahs, Jacob L. McCauley, Amy E. Crunk, Lynne L. McFarland, Perry C. Gaskell, Lan Jiang, Susan H. Slifer, Jeffery M. Vance, William K. Scott, Kathleen A. Welsh-Bohmer, Stephanie R. Johnson, C

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2006

Language:

english

File:

PDF, 93 KB

english, 2006

15

Glutathione S-transferase polymorphisms and onset age in α-synuclein A53T mutant Parkinson's disease

Lawrence I. Golbe, Giuseppe Di Iorio, Katerina Markopoulou, Aglaia Athanassiadou, Spiridon Papapetropoulos, Ray L. Watts, Jeffery M. Vance, Vincenzo Bonifati, Tanishia A. Williams, John R. Spychala, E

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2007

Language:

english

File:

PDF, 77 KB

english, 2007

16

Linkage of Parkinsonism and Alzheimer's disease with Lewy body pathology to chromosome 12

William K. Scott, Jeffery M. Vance, Jonathan L. Haines, Margaret A. Pericak-Vance

Journal:

Annals of Neurology

Year:

2002

Language:

english

File:

PDF, 52 KB

english, 2002

17

Reply

Sofia A. Oliveira, William K. Scott, Eden R. Martin, Margaret A. Pericak-Vance, Jeffery M. Vance

Journal:

Annals of Neurology

Year:

2003

Language:

english

File:

PDF, 61 KB

english, 2003

18

Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family

Gladys Montenegro, Eric Powell, Jia Huang, Fiorella Speziani, Yvonne J.K. Edwards, Gary Beecham, William Hulme, Carly Siskind, Jeffery Vance, Michael Shy, Stephan Züchner

Journal:

Annals of Neurology

Year:

2011

Language:

english

File:

PDF, 291 KB

english, 2011

19

A rare novel deletion of the tyrosine hydroxylase gene in Parkinson disease

Güney Bademci, Todd L. Edwards, Andre L. Torres, William K. Scott, Stephan Züchner, Eden R. Martin, Jeffery M. Vance, Liyong Wang

Journal:

Year:

2010

Language:

english

File:

PDF, 265 KB

english, 2010

20

A Recurrent loss-of-function alanyl-tRNA synthetase (AARS ) mutation in patients with charcot-marie-tooth disease type 2N (CMT2N)

Heather M. McLaughlin, Reiko Sakaguchi, William Giblin, NIH Intramural Sequencing Center, Thomas E. Wilson, Leslie Biesecker, James R. Lupski, Kevin Talbot, Jeffery M. Vance, Stephan Züchner, Yi-Chung

Journal:

Year:

2012

Language:

english

File:

PDF, 426 KB

english, 2012

21

Family-based case–control study of MAOA and MAOB polymorphisms in Parkinson disease

Sun J. Kang, William K. Scott, Yi-Ju Li, Michael A. Hauser, Joelle M. van der Walt, Kenichiro Fujiwara, Gregory M. Mayhew, Sandra G. West, Jeffery M. Vance, Eden R. Martin

Journal:

Movement Disorders

Year:

2006

Language:

english

File:

PDF, 89 KB

english, 2006

22

Combinatorial Mismatch Scan (CMS) for loci associated with dementia in the Amish

Jacob L McCauley, Daniel W Hahs, Lan Jiang, William K Scott, Kathleen A Welsh-Bohmer, Charles E Jackson, Jeffery M Vance, Margaret A Pericak-Vance, Jonathan L Haines

Journal:

BMC Medical Genetics

Year:

2006

Language:

english

File:

PDF, 568 KB

english, 2006

23

Prenatal diagnosis using deletion studies in Duchenne muscular dystrophy

Marcy C. Speer, Margaret A. Pericak-Vance, Larry H. Yamaoka, James Koh, Wu-Yen Hung, Peter C. Gaskell Jr., Jeffery M. Vance, Richard J. Bartlett, Allen D. Roses

Journal:

Prenatal Diagnosis

Year:

1988

Language:

english

File:

PDF, 657 KB

english, 1988

24

Emerging pathways for hereditary axonopathies

Stephan Züchner, Jeffery M. Vance

Journal:

Journal of Molecular Medicine

Year:

2005

Language:

english

File:

PDF, 154 KB

english, 2005

25

Lewy body pathology is a frequent co-pathology in familial Alzheimer's disease

Yuri Trembath, Carolyn Rosenberg, John F. Ervin, Donald E. Schmechel, Perry Gaskell, Margaret Pericak-Vance, Jeffery Vance, Christine M. Hulette

Journal:

Acta Neuropathologica

Year:

2003

Language:

english

File:

PDF, 156 KB

english, 2003

26

Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease

Jia Huang, Xingyao Wu, Gladys Montenegro, Justin Price, Gaofeng Wang, Jeffery M. Vance, Michael E. Shy, Stephan Züchner

Journal:

Journal of Neurology

Year:

2010

Language:

english

File:

PDF, 512 KB

english, 2010

27

Mutation screening ofmitofusin 2in Charcot-Marie-Tooth disease type 2

Donald S. McCorquodale, Gladys Montenegro, Ainsley Peguero, Nicole Carlson, Fiorella Speziani, Justin Price, Sean W. Taylor, Michel Melanson, Jeffery M. Vance, Stephan Züchner

Journal:

Journal of Neurology

Year:

2011

Language:

english

File:

PDF, 270 KB

english, 2011

28

Association between the neuron-specific RNA-binding protein ELAVL4 and Parkinson disease

Maher A. Noureddine, Xue-Jun Qin, Sofia A. Oliveira, Tara J. Skelly, Joelle van der Walt, Michael A. Hauser, Margaret A. Pericak-Vance, Jeffery M. Vance, Yi-Ju Li

Journal:

Year:

2005

Language:

english

File:

PDF, 272 KB

english, 2005

29

Reduction in the minimum candidate interval in the dominant-intermediate form of Charcot-Marie-Tooth neuropathy toD19S586toD19S432

Marcy C. Speer, Felicia Lennon Graham, Erin Bonner, Keva Collier, Jeffrey M. Stajich, Perry C. Gaskell, Margaret A. Pericak-Vance, Jeffery M. Vance

Journal:

Year:

2002

Language:

english

File:

PDF, 150 KB

english, 2002

30

Linkage disequilibrium and haplotype tagging polymorphisms in theTauH1 haplotype

Sofia A. Oliveira, William K. Scott, Fengyu Zhang, Jeffrey M. Stajich, Kenichiro Fujiwara, Michael Hauser, Burton L. Scott, Margaret A. Pericak-Vance, Jeffery M. Vance, Eden R. Martin

Journal:

Year:

2004

Language:

english

File:

PDF, 816 KB

english, 2004

31

Comprehensive association analysis ofAPOEregulatory region polymorphisms in Alzheimer disease

Kristin K. Nicodemus, Judith E. Stenger, Donald E. Schmechel, Kathleen A. Welsh-Bohmer, Ann M. Saunders, Allen D. Roses, John R. Gilbert, Jeffery M. Vance, Jonathan L. Haines, Margaret A. Pericak-Vanc

Journal:

Year:

2004

Language:

english

File:

PDF, 186 KB

english, 2004

32

Nitric oxide synthase genes and their interactions with environmental factors in Parkinson’s disease

Dana B. Hancock, Eden R. Martin, Jeffery M. Vance, William K. Scott

Journal:

Year:

2008

Language:

english

File:

PDF, 381 KB

english, 2008

33

Genetic polymorphisms associated with priapism in sickle cell disease

Laine Elliott, Allison E. Ashley-Koch, Laura De Castro, Jude Jonassaint, Jennifer Price, Kenneth I. Ataga, Marc C. Levesque, J. Brice Weinberg, James R. Eckman, Eugene P. Orringer, Jeffery M. Vance, M

Journal:

British Journal of Haematology

Year:

2007

Language:

english

File:

PDF, 461 KB

english, 2007

34

Vitamin D Receptor Gene as a Candidate Gene for Parkinson Disease

Megan W. Butler, Amber Burt, Todd L. Edwards, Stephan Zuchner, William K. Scott, Eden R. Martin, Jeffery M. Vance, Liyong Wang

Journal:

Annals of Human Genetics

Year:

2011

Language:

english

File:

PDF, 315 KB

english, 2011

35

An Emergency Department Guideline for the Diagnosis of Pulmonary Embolism: An Outcome Study

Michael D. Brown, Steven J. Vance, Jeffery A. Kline

Journal:

Academic Emergency Medicine

Year:

2005

Language:

english

File:

PDF, 84 KB

english, 2005

36

Charcot-Marie-Tooth Disease Type 2

JEFFERY M. VANCE

Journal:

Annals of the New York Academy of Sciences

Year:

1999

File:

PDF, 681 KB

1999

37

The Haw River Syndrome: Dentatorubropallidoluysian atrophy (DRPLA) in an African–American family

Burke, James R., Wingfield, Martha S., Lewis, Karen E., Roses, Allen D., Lee, James E., Hulette, Christine, Pericak-Vance, Margaret A., Vance, Jeffery M.

Journal:

Nature Genetics

Year:

1994

File:

PDF, 380 KB

1994

38

Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH

Burke, James R., Enghild, Jan J., Martin, Margaret E., Jou, Yuh-Shan, Myers, Richard M., Roses, Allen D., Vance, Jeffery M., Strittmatter, Warren J.

Journal:

Nature Medicine

Year:

1996

File:

PDF, 471 KB

1996

39

Reply to “A role for GAPDH in apoptosis and neurodegeneration”

Roses, Allen D., Burke, James R., Vance, Jeffery M., Strittmatter, Warren J.

Journal:

Nature Medicine

Year:

1996

File:

PDF, 136 KB

1996

40

Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease

Stephan Züchner, Jeffery M. Vance

Journal:

NeuroMolecular Medicine

Year:

2006

Language:

english

File:

PDF, 173 KB

english, 2006

41

NOS2A and the modulating effect of cigarette smoking in Parkinson's disease

Dana B. Hancock, Eden R. Martin, Kenichiro Fujiwara, Mark A. Stacy, Burton L. Scott, Jeffrey M. Stajich, Rita Jewett, Yi-Ju Li, Michael A. Hauser, Jeffery M. Vance, William K. Scott

Journal:

Annals of Neurology

Year:

2006

Language:

english

File:

PDF, 112 KB

english, 2006

42

Variation in the miRNA-433 Binding Site of FGF20 Confers Risk for Parkinson Disease by Overexpression of α-Synuclein

Gaofeng Wang, Joelle M. van der Walt, Gregory Mayhew, Yi-Ju Li, Stephan Züchner, William K. Scott, Eden R. Martin, Jeffery M. Vance

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 495 KB

english, 2008

43

Response to Zaykin and Shibata

Ping-I Lin, Jeffery M. Vance, Margaret A. Pericak-Vance, Eden R. Martin

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 61 KB

english, 2008

44

Genome-wide Linkage Screen in Familial Parkinson Disease Identifies Loci on Chromosomes 3 and 18

Xiaoyi Gao, Eden R. Martin, Yutao Liu, Gregory Mayhew, Jeffery M. Vance, William K. Scott

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 215 KB

english, 2009

45

Statistical Viewer: a tool to upload and integrate linkage and association data as plots displayed within the Ensembl genome browser

Judith E Stenger, Hong Xu, Carol Haynes, Elizabeth R Hauser, Margaret Pericak-Vance, Pascal J Goldschmidt-Clermont, Jeffery M Vance

Journal:

BMC Bioinformatics

Year:

2005

Language:

english

File:

PDF, 930 KB

english, 2005

46

Pesticide exposure and risk of Parkinson's disease: A family-based case-control study

Dana B Hancock, Eden R Martin, Gregory M Mayhew, Jeffrey M Stajich, Rita Jewett, Mark A Stacy, Burton L Scott, Jeffery M Vance, William K Scott

Journal:

Year:

2008

Language:

english

File:

PDF, 317 KB

english, 2008

47

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

Lucia Bartoloni, Stephen K. Horrigan, Kristi D. Viles, James M. Gilchrist, Jeffery M. Stajich, Jeffery M. Vance, Larry H. Yamaoka, Margaret A. Pericak-Vance, Carol A. Westbrook, Marcy C. Speer

Journal:

Year:

1998

Language:

english

File:

PDF, 124 KB

english, 1998

48

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

Stephen K. Horrigan, Lucia Bartoloni, Marcy C. Speer, Noreen Fulton, Jelena Kravarusic, Rajkumar Ramesar, Jeffery M. Vance, Larry H. Yamaoka, Carol A. Westbrook

Journal:

Year:

1999

Language:

english

File:

PDF, 300 KB

english, 1999

49

Linkage of a Gene Causing Familial Focal Segmental Glomerulosclerosis to Chromosome 11 and Further Evidence of Genetic Heterogeneity

Michelle P. Winn, Peter J. Conlon, Kelvin L. Lynn, David N. Howell, Brandon D. Slotterbeck, Anne H. Smith, Felicia L. Graham, MaryLou Bembe, L.Daryl Quarles, Margaret A. Pericak-Vance, Jeffery M. Vanc

Journal:

Year:

1999

Language:

english

File:

PDF, 239 KB

english, 1999

50

Identification of a New Locus for Autosomal Recessive Charcot–Marie–Tooth Disease with Focally Folded Myelin on Chromosome 11p15

Kamel Ben Othmane, Ellen Johnson, Marisa Menold, Felicia L. Graham, Mongi Ben Hamida, Osamu Hasegawa, Allison D. Rogala, Akio Ohnishi, Margaret Pericak-Vance, Faycal Hentati, Jeffery M. Vance

Journal:

Year:

1999

Language:

english

File:

PDF, 199 KB

english, 1999

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