A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease–like 2 SE Holmes, E O'Hearn, A Rosenblatt, C Callahan, HS Hwang, ... Nature genetics 29 (4), 377-378, 2001 | 325 | 2001 |
Validation of a Real-Time PCR–Based Qualitative Assay for the Detection of Methylated SEPT9 DNA in Human Plasma NT Potter, P Hurban, MN White, KD Whitlock, CE Lofton-Day, R Tetzner, ... Clinical chemistry 60 (9), 1183-1191, 2014 | 272 | 2014 |
Plasma Septin9 versus fecal immunochemical testing for colorectal cancer screening: a prospective multicenter study DA Johnson, RL Barclay, K Mergener, G Weiss, T König, J Beck, ... PloS one 9 (6), e98238, 2014 | 189 | 2014 |
Technical standards and guidelines for Huntington disease testing NT Potter, EB Spector, TW Prior Genetics in Medicine 6 (1), 61-65, 2004 | 158 | 2004 |
Huntington's disease–like 2 (HDL2) in North America and Japan RL Margolis, SE Holmes, A Rosenblatt, L Gourley, E O'Hearn, CA Ross, ... Annals of Neurology: Official Journal of the American Neurological …, 2004 | 140 | 2004 |
Spinocerebellar Ataxia Type 8: molecular genetic comparisonsand haplotype analysis of 37 families with ataxia Y Ikeda, JC Dalton, ML Moseley, KL Gardner, TD Bird, T Ashizawa, ... The American Journal of Human Genetics 75 (1), 3-16, 2004 | 97 | 2004 |
Childhood‐onset ataxia: testing for large CAG‐repeats in SCA2 and SCA7 R Mao, AS Aylsworth, N Potter, WG Wilson, G Breningstall, MJ Wick, ... American journal of medical genetics 110 (4), 338-345, 2002 | 93 | 2002 |
A unique origin and multistep process for the generation of expanded DRPLA triplet repeats H Yanagisawa, K Fujii, S Nagafuchi, Y Nakahori, Y Nakagome, A Akane, ... Human molecular genetics 5 (3), 373-379, 1996 | 67 | 1996 |
Molecular and clinical findings in a family with dentatorubral‐pallidoluysian atrophy NT Potter, MA Meyer, AW Zimmerman, ML Eisenstadt, IJ Anderson Annals of Neurology: Official Journal of the American Neurological …, 1995 | 63 | 1995 |
Presentation of a T cell receptor antagonist peptide by immunoglobulins ablates activation of T cells by a synthetic peptide or proteins requiring endocytic processing KL Legge, B Min, NT Potter, H Zaghouani The Journal of experimental medicine 185 (6), 1043-1054, 1997 | 56 | 1997 |
Uptake of a colorectal cancer screening blood test is higher than of a fecal test offered in clinic: a randomized trial EG Liles, GD Coronado, N Perrin, AH Harte, R Nungesser, N Quigley, ... Cancer Treatment and Research Communications 10, 27-31, 2017 | 51 | 2017 |
PI 3 KCA plays a major role in multiple myeloma and its inhibition with BYL 719 decreases proliferation, synergizes with other therapies and overcomes stroma‐induced resistance F Azab, S Vali, J Abraham, N Potter, B Muz, P de la Puente, M Fiala, ... British journal of haematology 165 (1), 89-101, 2014 | 51 | 2014 |
Monoclonal and polyclonal antibodies to myelin basic protein determinants ED Day, NT Potter Journal of neuroimmunology 10 (4), 289-312, 1986 | 42 | 1986 |
Acute optic neuritis associated with immunization with the CNS myelin proteolipid protein. NT Potter, PE Bigazzi Investigative ophthalmology & visual science 33 (5), 1717-1722, 1992 | 38 | 1992 |
Laboratory guidelines for Huntington disease genetic testing MA Nance, W Seltzer, T Ashizawa, R Bennett, N McIntosh, RH Myers, ... The American Journal of Human Genetics 62 (5), 1243-1247, 1998 | 30 | 1998 |
Relationships among cytokines (IL-1, TNF, and IL-8) and histologic markers of acute ascending intrauterine infection NT Potter, L Kosuda, PE Bigazzi, AD Fleming, AM Vintzileos, C Homon, ... Journal of Maternal-Fetal Medicine 1 (3), 142-147, 1992 | 28 | 1992 |
Expression and distribution of the dentatorubral-pallidoluysian atrophy gene product (atrophin-1/drplap) in neuronal and non-neuronal tissues SP Knight, MM Richardson, AP Osmand, A Stakkestad, NT Potter Journal of the neurological sciences 146 (1), 19-26, 1997 | 27 | 1997 |
Immunological aspects of autism AW Zimmerman, VH Frye, NT Potter International Pediatrics 8 (2), 199-204, 1993 | 27 | 1993 |
Detection of trinucleotide expansion in neurodegenerative disease by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry NI Taranenko, NT Potter, SL Allman, VV Golovlev, CH Chen Genetic Analysis: Biomolecular Engineering 15 (1), 25-31, 1999 | 25 | 1999 |
Linkage evidence supports the involvement of chromosome 15 in autistic disorder (AUT). MA Pericak-Vance, CM Wolpert, MM Menold, MP Bass, GR DeLong, ... American Journal of Human Genetics 61 (4), A40-A40, 1997 | 24 | 1997 |