David Tilstra

David Tilstra

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David Tilstra

David Tilstra

Publications by authors named "David Tilstra"

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Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis.

Authors:
Zöe Powis Kelly D Farwell Hagman Virginia Speare Taylor Cain Kirsten Blanco Layla S Mowlavi Emily M Mayerhofer David Tilstra Timothy Vedder Jesse M Hunter Marilyn Tsang Lina Gonzalez Gerald Vockley Sha Tang

Genet Med 2018 11 22;20(11):1468-1471. Epub 2018 Mar 22.

Ambry Genetics, Aliso Viejo, California, USA.

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http://dx.doi.org/10.1038/gim.2018.11DOI Listing
November 2018

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.

Authors:
Jennifer J Johnston Julie C Sapp Joyce T Turner David Amor Salim Aftimos Kyrieckos A Aleck Maureen Bocian Joann N Bodurtha Gerald F Cox Cynthia J Curry Ruth Day Dian Donnai Michael Field Ikuma Fujiwara Michael Gabbett Moran Gal John M Graham Peter Hedera Raoul C M Hennekam Joseph H Hersh Robert J Hopkin Hülya Kayserili Alexa M J Kidd Virginia Kimonis Angela E Lin Sally Ann Lynch Melissa Maisenbacher Sahar Mansour Julie McGaughran Lakshmi Mehta Helen Murphy Margarita Raygada Nathaniel H Robin Alan F Rope Kenneth N Rosenbaum G Bradley Schaefer Amy Shealy Wendy Smith Maria Soller Annmarie Sommer Heather J Stalker Bernhard Steiner Mark J Stephan David Tilstra Susan Tomkins Pamela Trapane Anne Chun-Hui Tsai Margot I Van Allen Pradeep C Vasudevan Bernhard Zabel Janice Zunich Graeme C M Black Leslie G Biesecker

Hum Mutat 2010 Oct;31(10):1142-54

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-4472, USA.

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http://dx.doi.org/10.1002/humu.21328DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2947617PMC
October 2010

Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome.

Authors:
Kevin Martens Inge Heulens Sandra Meulemans Marco Zaffanello David Tilstra Frederik J Hes Raoul Rooman Inge François Francis de Zegher Jaak Jaeken Gert Matthijs John W M Creemers

Eur J Hum Genet 2007 Oct 20;15(10):1029-33. Epub 2007 Jun 20.

Laboratory for Biochemical Neuro-endocrinology, Department for Human Genetics, University of Leuven and Flanders Interuniversity Institute for Biotechnology, Gent, Belgium

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http://dx.doi.org/10.1038/sj.ejhg.5201881DOI Listing
October 2007

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.

Authors:
Jennifer J Johnston Isabelle Olivos-Glander Christina Killoran Emma Elson Joyce T Turner Kathryn F Peters Margaret H Abbott David J Aughton Arthur S Aylsworth Michael J Bamshad Carol Booth Cynthia J Curry Albert David Mary Beth Dinulos David B Flannery Michelle A Fox John M Graham Dorothy K Grange Alan E Guttmacher Mark C Hannibal Wolfram Henn Raoul C M Hennekam Lewis B Holmes H Eugene Hoyme Kathleen A Leppig Angela E Lin Patrick Macleod David K Manchester Carlo Marcelis Laura Mazzanti Emma McCann Marie T McDonald Nancy J Mendelsohn John B Moeschler Billur Moghaddam Giovanni Neri Ruth Newbury-Ecob Roberta A Pagon John A Phillips Laurie S Sadler Joan M Stoler David Tilstra Catherine M Walsh Vockley Elaine H Zackai Touran M Zadeh Louise Brueton Graeme Charles M Black Leslie G Biesecker

Am J Hum Genet 2005 Apr 28;76(4):609-22. Epub 2005 Feb 28.

National Institutes of Health, National Human Genome Research Institute, Bethesda, MD 20892-4472, USA.

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http://dx.doi.org/10.1086/429346DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1199298PMC
April 2005