P
Paul R. Mark
Researcher at Spectrum Health
Publications - 33
Citations - 1159
Paul R. Mark is an academic researcher from Spectrum Health. The author has contributed to research in topics: Medicine & Hypotonia. The author has an hindex of 10, co-authored 25 publications receiving 855 citations. Previous affiliations of Paul R. Mark include Indiana University – Purdue University Indianapolis.
Papers
More filters
Journal ArticleDOI
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Santhosh Girirajan,Jill A. Rosenfeld,Gregory M. Cooper,Francesca Antonacci,Priscillia Siswara,Andy Itsara,Laura Vives,Tom Walsh,Shane McCarthy,Carl Baker,Heather C Mefford,Jeffrey M. Kidd,Sharon R. Browning,Brian L. Browning,Diane E. Dickel,Deborah L. Levy,Blake C. Ballif,Kathryn Platky,Darren Farber,Gordon C. Gowans,Jessica J. Wetherbee,Alexander Asamoah,David D. Weaver,Paul R. Mark,Jennifer Dickerson,Bhuwan P. Garg,Sara Ellingwood,Rosemarie Smith,Valerie Banks,Wendy E. Smith,Marie T. McDonald,Joe J. Hoo,Beatrice N. French,Cindy Hudson,John P. Johnson,Jillian R Ozmore,John B. Moeschler,Urvashi Surti,Luis F. Escobar,Dima El-Khechen,Jerome L. Gorski,Jennifer Kussmann,Bonnie A. Salbert,Yves Lacassie,Alisha Biser,Donna M. McDonald-McGinn,Elaine H. Zackai,Matthew A. Deardorff,Tamim H. Shaikh,Eric Haan,Eric Haan,Kathryn Friend,Marco Fichera,Corrado Romano,Jozef Gecz,Jozef Gecz,Lynn E. DeLisi,Lynn E. DeLisi,Jonathan Sebat,Mary Claire King,Lisa G. Shaffer,Evan E. Eichler +61 more
TL;DR: The data support a two-hit model in which the 16p12.1 microdeletion both predisposes to neuropsychiatric phenotypes as a single event and exacerbates neurodevelopmental phenotypes in association with other large deletions or duplications.
Journal ArticleDOI
NAD Deficiency, Congenital Malformations, and Niacin Supplementation
Hongjun Shi,Hongjun Shi,Annabelle Enriquez,Melissa Rapadas,Ella M M A Martin,Roni Wang,Julie L. M. Moreau,Julie L. M. Moreau,Chai K. Lim,Justin O. Szot,Justin O. Szot,Eddie Ip,Eddie Ip,James N. Hughes,Kotaro Sugimoto,David T. Humphreys,David T. Humphreys,Aideen M. McInerney-Leo,Aideen M. McInerney-Leo,Paul Leo,Paul Leo,Ghassan J. Maghzal,Ghassan J. Maghzal,Jake Halliday,Janine Smith,Alison Colley,Paul R. Mark,Felicity Collins,David Sillence,David S. Winlaw,Joshua W. K. Ho,Joshua W. K. Ho,Gilles J. Guillemin,Matthew A. Brown,Matthew A. Brown,Kazu Kikuchi,Kazu Kikuchi,Paul Q. Thomas,Roland Stocker,Roland Stocker,Eleni Giannoulatou,Eleni Giannoulatou,Gavin Chapman,Gavin Chapman,Emma L. Duncan,Duncan B. Sparrow,Duncan B. Sparrow,Sally L. Dunwoodie,Sally L. Dunwoodie +48 more
TL;DR: In this article, the authors used genomic sequencing to identify potentially pathogenic gene variants in families in which a person had multiple congenital malformations and tested the function of the variant by using assays of in vitro enzyme activity and by quantifying metabolites in patient plasma.
Journal ArticleDOI
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome
Eric G. Bend,Erfan Aref-Eshghi,Erfan Aref-Eshghi,David B. Everman,R. Curtis Rogers,Sara S. Cathey,Eloise J. Prijoles,Michael J. Lyons,Heather Davis,Katie Clarkson,Karen W. Gripp,Dong Li,Elizabeth J. Bhoj,Elaine H. Zackai,Paul R. Mark,Hakon Hakonarson,Laurie A. Demmer,Michael A. Levy,Michael A. Levy,Jennifer Kerkhof,Jennifer Kerkhof,Alan Stuart,Alan Stuart,David I. Rodenhiser,Michael J. Friez,Roger E. Stevenson,Charles E. Schwartz,Bekim Sadikovic,Bekim Sadikovic +28 more
TL;DR: This work describes the first Mendelian condition with two distinct episignatures caused by mutations in a single gene, which enable diagnosis, screening, and genetic variant classifications in ADNP syndrome.
Journal ArticleDOI
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes
Susanne Roosing,Marta Romani,Mala Isrie,Rasim Ozgur Rosti,Alessia Micalizzi,Alessia Micalizzi,Damir Musaev,Tommaso Mazza,Lihadh Al-Gazali,Umut Altunoglu,Eugen Boltshauser,Stefano D'Arrigo,Bart De Keersmaecker,Hülya Kayserili,Sarah Brandenberger,Ichraf Kraoua,Paul R. Mark,Trudy McKanna,Joachim Van Keirsbilck,Philippe Moerman,Andrea Poretti,Andrea Poretti,Ratna Puri,Hilde Van Esch,Joseph G. Gleeson,Joseph G. Gleeson,Joseph G. Gleeson,Enza Maria Valente +27 more
TL;DR: The spectrum of phenotypes caused by CEP120 mutations that account for nearly 1% of patients with JS as well as for more complex ciliopathy phenotypes are broadened, highlighting the relevance of comprehensive genetic analyses in the diagnostics of ciliopathies.
Journal ArticleDOI
Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations.
Ellen S. Regalado,Lauren Mellor-Crummey,Julie De Backer,Alan C. Braverman,Lesley C. Adès,Susan L. Benedict,Timothy J. Bradley,M. Elizabeth Brickner,Kathryn C. Chatfield,Anne H. Child,Cori Feist,Kathryn W. Holmes,Glen J. Iannucci,Birgit Lorenz,Paul R. Mark,Takayuki Morisaki,Hiroko Morisaki,Shaine A. Morris,Anna L. Mitchell,John R. Østergaard,Julie Richer,Denver Sallee,Sherene Shalhub,Mustafa Tekin,Anthony L. Estrera,Patricia L. Musolino,Anji T. Yetman,Reed E. Pyeritz,Dianna M. Milewicz +28 more
TL;DR: The clinical history of smooth muscle dysfunction syndrome is defined to develop recommendations for evaluation and management and to help prevent early-onset life-threatening complications.