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Bill H. Diplas
Researcher at Duke University
Publications - 40
Citations - 3247
Bill H. Diplas is an academic researcher from Duke University. The author has contributed to research in topics: Medicine & Telomere. The author has an hindex of 20, co-authored 29 publications receiving 2551 citations. Previous affiliations of Bill H. Diplas include Johns Hopkins University School of Medicine & Johns Hopkins University.
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Journal ArticleDOI
Tert promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal
Hai Yan,Patrick J. Killela,Zachary J. Reitman,Yuchen Jiao,Chetan Bettegowda,Nishant Agrawal,Luis A. Diaz,Allan H. Friedman,Henry S. Friedman,G.L. Gallia,B.C. Giovanella,Arthur P. Grollman,Tong-Chuan He,Yiping He,R.H. Hruban,G.I. Jallo,Nils Mandahl,Alan K. Meeker,Fredrik Mertens,George J. Netto,B.A. Rasheed,Gregory J. Riggins,T.A. Rosenquist,M. Schiffman,IeM Shih,Dan Theodorescu,M.S. Torbenson,Victor E. Velculescu,Tian Li Wang,N. Wentzensen,Laura D. Wood,Ming Zhang,Patrick Healy,Rui Yang,Bill H. Diplas,Zhaohui Wang,Paula K. Greer,Huishan Zhu,Catherine Y. Wang,Austin B. Carpenter,James E. Herndon,Roger E. McLendon,Kenneth W. Kinzler,Bert Vogelstein,N. Papadopoulos,Darell D. Bigner +45 more
TL;DR: TERT and ATRX mutations suggest that these two genetic mechanisms confer equivalent selective growth advantages and provide a biomarker that may be useful for the early detection of urinary tract and liver tumors and aid in the classification and prognostication of brain tumors.
Journal ArticleDOI
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
Erica E. Davis,Qi Zhang,Qin Liu,Bill H. Diplas,Lisa Davey,Jane Hartley,Corinne Stoetzel,Katarzyna Szymanska,Gokul Ramaswami,Clare V. Logan,Donna M. Muzny,Alice C. Young,David A. Wheeler,Pedro Cruz,Margaret Morgan,Lora Lewis,Praveen F. Cherukuri,Baishali Maskeri,Nancy F. Hansen,James C. Mullikin,Robert W. Blakesley,Gerard G. Bouffard,Gabor Gyapay,Susanne Rieger,Burkhard Tönshoff,Ilse Kern,Neveen A. Soliman,Thomas J. Neuhaus,Kathryn J. Swoboda,Hülya Kayserili,Tomas E. Gallagher,Richard A. Lewis,Carsten Bergmann,Edgar A. Otto,Sophie Saunier,Peter J. Scambler,Philip L. Beales,Joseph G. Gleeson,Eamonn R. Maher,Tania Attié-Bitach,Hélène Dollfus,Colin A. Johnson,Eric D. Green,Richard A. Gibbs,Friedhelm Hildebrandt,Eric A. Pierce,Nicholas Katsanis,Nicholas Katsanis +47 more
TL;DR: It is shown that mutations in TTC21B, which encodes the retrograde intraflagellar transport protein IFT139, cause both isolated nephronophthisis and syndromic Jeune asphyxiating thoracic dystrophy.
Journal ArticleDOI
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
Enza Maria Valente,Clare V. Logan,Soumaya Mougou-Zerelli,Jeong Ho Lee,Jennifer L. Silhavy,Francesco Brancati,Francesco Brancati,Miriam Iannicelli,Lorena Travaglini,Sveva Romani,Barbara Illi,Matthew Adams,Katarzyna Szymanska,Annalisa Mazzotta,Ji Eun Lee,Jerlyn C Tolentino,Dominika Swistun,Carmelo Salpietro,Carmelo Fede,Stacey Gabriel,Carsten Russ,Kristian Cibulskis,Carrie Sougnez,Friedhelm Hildebrandt,Edgar A. Otto,Susanne Held,Bill H. Diplas,Erica E. Davis,Mario Mikula,Charles M. Strom,Bruria Ben-Zeev,Dorit Lev,Tally Lerman Sagie,Marina Michelson,Yuval Yaron,Amanda Krause,Eugen Boltshauser,Nadia Elkhartoufi,Joelle Roume,Stavit A. Shalev,Arnold Munnich,Sophie Saunier,Chris F. Inglehearn,Ali Saad,Adila Al-Kindy,Adila Al-Kindy,Sophie Thomas,Michel Vekemans,Bruno Dallapiccola,Nicholas Katsanis,Colin A. Johnson,Tania Attié-Bitach,Joseph G. Gleeson +52 more
TL;DR: It is reported that MKS2 and CORS2 (JBTS2) loci are allelic and caused by mutations in TMEM216, which encodes an uncharacterized tetraspan transmembrane protein.
Journal ArticleDOI
Mutations in IDH1 , IDH2 , and in the TERT promoter define clinically distinct subgroups of adult malignant gliomas
Patrick J. Killela,Christopher J. Pirozzi,Patrick Healy,Zachary J. Reitman,Eric S. Lipp,Ahmed Rasheed,Rui Yang,Bill H. Diplas,Zhaohui Wang,Paula K. Greer,Huishan Zhu,Catherine Y. Wang,Austin B. Carpenter,Henry S. Friedman,Allan H. Friedman,Stephen T. Keir,Jie He,Yiping He,Roger E. McLendon,James E. Herndon,Hai Yan,Darell D. Bigner +21 more
TL;DR: It is hypothesized and show that genetic signatures capable of distinguishing among several types of gliomas could be established providing clinically relevant information that can serve as an adjunct to histopathological diagnosis.
Journal ArticleDOI
Isocitrate dehydrogenase mutations in gliomas.
TL;DR: The relevant literature on mechanistic studies of IDH1/2 mutations in gliomas are discussed, and the potential impact of IDh1/ 2 mutations on molecular classification and glioma therapy is reviewed.