Publications by authors named "Renata Gallagher"

37Publications

Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing.

Authors:
Aashish N Adhikari Robert J Currier Hao Tang Coleman T Turgeon Robert L Nussbaum Rajgopal Srinivasan Uma Sunderam Pui-Yan Kwok Steven E Brenner Dimitar Gavrilov Jennifer M Puck Renata Gallagher

Int J Neonatal Screen 2020 Jun 26;6(2). Epub 2020 May 26.

Department of Pediatrics, University of California, San Francisco, CA 94158 USA.

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June 2020

The role of exome sequencing in newborn screening for inborn errors of metabolism.

Authors:
Aashish N Adhikari Renata C Gallagher Yaqiong Wang Robert J Currier George Amatuni Laia Bassaganyas Flavia Chen Kunal Kundu Mark Kvale Sean D Mooney Robert L Nussbaum Savanna S Randi Jeremy Sanford Joseph T Shieh Rajgopal Srinivasan Uma Sunderam Hao Tang Dedeepya Vaka Yangyun Zou Barbara A Koenig Pui-Yan Kwok Neil Risch Jennifer M Puck Steven E Brenner

Nat Med 2020 09 10;26(9):1392-1397. Epub 2020 Aug 10.

Department of Plant and Microbial Biology, University of California Berkeley, Berkeley, CA, USA.

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September 2020

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.

Authors:
Maria J Guillen Sacoto Iva A Tchasovnikarova Erin Torti Cara Forster E Hallie Andrew Irina Anselm Kristin W Baranano Lauren C Briere Julie S Cohen William J Craigen Cheryl Cytrynbaum Nina Ekhilevitch Matthew J Elrick Ali Fatemi Jamie L Fraser Renata C Gallagher Andrea Guerin Devon Haynes Frances A High Cara N Inglese Courtney Kiss Mary Kay Koenig Joel Krier Kristin Lindstrom Michael Marble Hannah Meddaugh Ellen S Moran Chantal F Morel Weiyi Mu Eric A Muller Jessica Nance Marvin R Natowicz Adam L Numis Bridget Ostrem John Pappas Carl E Stafstrom Haley Streff David A Sweetser Marta Szybowska Melissa A Walker Wei Wang Karin Weiss Rosanna Weksberg Patricia G Wheeler Grace Yoon Robert E Kingston Jane Juusola

Am J Hum Genet 2020 08 20;107(2):352-363. Epub 2020 Jul 20.

GeneDx, Inc., Gaithersburg, MD 20877, USA.

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August 2020

Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients.

Authors:
George A Diaz Andreas Schulze Nicola Longo William Rhead Annette Feigenbaum Derek Wong J Lawrence Merritt William Berquist Renata C Gallagher Dennis Bartholomew Shawn E McCandless Wendy E Smith Cary O Harding Roberto Zori Uta Lichter-Konecki Jerry Vockley Colleen Canavan Thomas Vescio Robert J Holt Susan A Berry

Mol Genet Metab 2019 08 10;127(4):336-345. Epub 2019 Jul 10.

University of Minnesota, Minneapolis, MN, USA.

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August 2019

Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium.

Authors:
Nicholas Ah Mew Avital Cnaan Robert McCarter Henry Choi Penny Glass Katie Rice Louis Scavo Catherine W Gillespie George A Diaz Gerard T Berry Derek Wong Laura Konczal Shawn E McCandless Curtis R Coughlin Ii James D Weisfeld-Adams Can Ficicioglu Mark Yudkoff Gregory M Enns Uta Lichter-Konecki Renata Gallagher Mendel Tuchman

Transl Sci Rare Dis 2018 Dec 20;3(3-4):157-170. Epub 2018 Dec 20.

Children's National Health System, Washington, DC, USA.

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December 2018

Pathogenic variants in glutamyl-tRNA amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.

Authors:
Marisa W Friederich Sharita Timal Christopher A Powell Cristina Dallabona Alina Kurolap Sara Palacios-Zambrano Drago Bratkovic Terry G J Derks David Bick Katelijne Bouman Kathryn C Chatfield Nadine Damouny-Naoum Megan K Dishop Tzipora C Falik-Zaccai Fuad Fares Ayalla Fedida Ileana Ferrero Renata C Gallagher Rafael Garesse Micol Gilberti Cristina González Katherine Gowan Clair Habib Rebecca K Halligan Limor Kalfon Kaz Knight Dirk Lefeber Laura Mamblona Hanna Mandel Adi Mory John Ottoson Tamar Paperna Ger J M Pruijn Pedro F Rebelo-Guiomar Ann Saada Bruno Sainz Hayley Salvemini Mirthe H Schoots Jan A Smeitink Maciej J Szukszto Hendrik J Ter Horst Frans van den Brandt Francjan J van Spronsen Joris A Veltman Eric Wartchow Liesbeth T Wintjes Yaniv Zohar Miguel A Fernández-Moreno Hagit N Baris Claudia Donnini Michal Minczuk Richard J Rodenburg Johan L K Van Hove

Nat Commun 2018 10 3;9(1):4065. Epub 2018 Oct 3.

Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, 80045, CO, USA.

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October 2018

Cobalamin D Deficiency Identified Through Newborn Screening.

Authors:
Aya Abu-El-Haija Bryce A Mendelsohn Jacque L Duncan Anthony T Moore Orit A Glenn Kara Weisiger Renata C Gallagher

JIMD Rep 2019 11;44:73-77. Epub 2018 Aug 11.

Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.

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August 2018

Laboratory analysis of organic acids, 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Authors:
Renata C Gallagher Laura Pollard Anna I Scott Suzette Huguenin Stephen Goodman Qin Sun

Genet Med 2018 07 15;20(7):683-691. Epub 2018 Mar 15.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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July 2018

Potential Misdiagnosis of Hyperhomocysteinemia due to Cystathionine Beta-Synthase Deficiency During Pregnancy.

Authors:
Sally P Stabler Cynthia Freehauf Robert H Allen Janet Thomas Renata Gallagher

JIMD Rep 2017 9;37:55-61. Epub 2017 Mar 9.

Department of Pediatrics, University of California at San Francisco, 330 Post Street, 6th Floor, San Francisco, CA, USA.

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March 2017

The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors.

Authors:
Lori-Anne P Schillaci Carol L Greene Erin Strovel Jessica Rispoli-Joines Elaine Spector Michael Woontner Gunter Scharer Gregory M Enns Renata Gallagher Arthur B Zinn Shawn E McCandless Charles L Hoppel Stephen I Goodman Jirair K Bedoyan

Mol Genet Metab 2016 09 1;119(1-2):50-6. Epub 2016 Jul 1.

Center for Human Genetics, University Hospitals Case Medical Center, Cleveland, OH, United States; Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, United States; Center for Inherited Disorders of Energy Metabolism (CIDEM), University Hospitals Case Medical Center, Cleveland, OH, United States. Electronic address:

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September 2016

Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD).

Authors:
Alexander Laemmle Renata C Gallagher Adrian Keogh Tamar Stricker Matthias Gautschi Jean-Marc Nuoffer Matthias R Baumgartner Johannes Häberle

PLoS One 2016 12;11(4):e0153358. Epub 2016 Apr 12.

Division of Metabolism and Children`s Research Center (CRC), University Children`s Hospital, Zurich, Switzerland.

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August 2016

Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum.

Authors:
Clara D M van Karnebeek Sylvia A Tiebout Jikkemien Niermeijer Bwee Tien Poll-The Aisha Ghani Curtis R Coughlin Johan L K Van Hove Jost Wigand Richter Hans Juergen Christen Renata Gallagher Hans Hartmann Sylvia Stockler-Ipsiroglu

Pediatr Neurol 2016 06 11;59:6-12. Epub 2016 Jan 11.

Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada; Treatable Intellectual Disability Endeavor in British Columbia (TIDE-BC), Vancouver, British Columbia, Canada. Electronic address:

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June 2016

Cyclic vomiting syndrome versus inborn errors of metabolism: A review with clinical recommendations.

Authors:
Amy A Gelfand Renata C Gallagher

Headache 2016 Jan 18;56(1):215-21. Epub 2015 Dec 18.

Department of Pediatrics, UCSF, San Francisco, CA, USA.

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January 2016

Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials.

Authors:
Sandesh C S Nagamani George A Diaz William Rhead Susan A Berry Cynthia Le Mons Uta Lichter-Konecki James Bartley Annette Feigenbaum Andreas Schulze Nicola Longo William Berquist Renata Gallagher Dennis Bartholomew Cary O Harding Mark S Korson Shawn E McCandless Wendy Smith Jerry Vockley David Kronn Robert Zori Stephen Cederbaum J Lawrence Merritt Derek Wong Dion F Coakley Bruce F Scharschmidt Klara Dickinson Miguel Marino Brendan H Lee Masoud Mokhtarani

Mol Genet Metab 2015 Sep-Oct;116(1-2):29-34. Epub 2015 Aug 5.

Horizon Therapeutics Inc., 2000 Sierra Point Parkway Suite 400, Brisbane, CA 94005, USA.

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July 2016

Clinical and biochemical characterization of four patients with mutations in ECHS1.

Authors:
Sacha Ferdinandusse Marisa W Friederich Alberto Burlina Jos P N Ruiter Curtis R Coughlin Megan K Dishop Renata C Gallagher Jirair K Bedoyan Frédéric M Vaz Hans R Waterham Katherine Gowan Kathryn Chatfield Kaitlyn Bloom Michael J Bennett Orly Elpeleg Johan L K Van Hove Ronald J A Wanders

Orphanet J Rare Dis 2015 Jun 18;10:79. Epub 2015 Jun 18.

Departments of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, AZ, 1105, The Netherlands.

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June 2015

Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome.

Authors:
Curtis R Coughlin Clara D M van Karnebeek Walla Al-Hertani Andrew Y Shuen Sravan Jaggumantri Rhona M Jack Sommer Gaughan Casey Burns David M Mirsky Renata C Gallagher Johan L K Van Hove

Mol Genet Metab 2015 Sep-Oct;116(1-2):35-43. Epub 2015 May 23.

Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, CO, United States. Electronic address:

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July 2016

Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing.

Authors:
Kathryn C Chatfield Curtis R Coughlin Marisa W Friederich Renata C Gallagher Jay R Hesselberth Mark A Lovell Rob Ofman Michael A Swanson Janet A Thomas Ronald J A Wanders Eric P Wartchow Johan L K Van Hove

Mitochondrion 2015 Mar 6;21:1-10. Epub 2015 Jan 6.

Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA. Electronic address:

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March 2015

Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder.

Authors:
Brendan Lee George A Diaz William Rhead Uta Lichter-Konecki Annette Feigenbaum Susan A Berry Cindy Le Mons James A Bartley Nicola Longo Sandesh C Nagamani William Berquist Renata Gallagher Dennis Bartholomew Cary O Harding Mark S Korson Shawn E McCandless Wendy Smith Stephen Cederbaum Derek Wong J Lawrence Merritt Andreas Schulze Jerry Vockley Gerard Vockley David Kronn Roberto Zori Marshall Summar Douglas A Milikien Miguel Marino Dion F Coakley Masoud Mokhtarani Bruce F Scharschmidt

Genet Med 2015 Jul 11;17(7):561-8. Epub 2014 Dec 11.

Hyperion Therapeutics, Brisbane, California, USA.

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July 2015

Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations.

Authors:
Clara D M van Karnebeek Sylvia Stockler-Ipsiroglu Sravan Jaggumantri Birgit Assmann Peter Baxter Daniela Buhas Levinus A Bok Barbara Cheng Curtis R Coughlin Anibh M Das Alette Giezen Wahla Al-Hertani Gloria Ho Uta Meyer Philippa Mills Barbara Plecko Eduard Struys Keiko Ueda Monique Albersen Nanda Verhoeven Sidney M Gospe Renata C Gallagher Johan K L Van Hove Hans Hartmann

JIMD Rep 2014 19;15:1-11. Epub 2014 Apr 19.

Centre for Molecular Medicine and Therapeutics, 3091-950 West 28th Avenue, Vancouver, Canada, V5Z 4H4,

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November 2014

Significant hepatic involvement in patients with ornithine transcarbamylase deficiency.

Authors:
Renata C Gallagher Christina Lam Derek Wong Stephen Cederbaum Ronald J Sokol

J Pediatr 2014 Apr 30;164(4):720-725.e6. Epub 2014 Jan 30.

University of Colorado School of Medicine, Department of Pediatrics, Section of Gastroenterology, Hepatology and Nutrition, The Digestive Health Institute and Children's Hospital Colorado, Aurora CO.

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April 2014

Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate.

Authors:
George A Diaz Lauren S Krivitzky Masoud Mokhtarani William Rhead James Bartley Annette Feigenbaum Nicola Longo William Berquist Susan A Berry Renata Gallagher Uta Lichter-Konecki Dennis Bartholomew Cary O Harding Stephen Cederbaum Shawn E McCandless Wendy Smith Gerald Vockley Stephen A Bart Mark S Korson David Kronn Roberto Zori J Lawrence Merritt Sandesh C S Nagamani Joseph Mauney Cynthia Lemons Klara Dickinson Tristen L Moors Dion F Coakley Bruce F Scharschmidt Brendan Lee

Hepatology 2013 Jun 3;57(6):2171-9. Epub 2013 Jan 3.

Mount Sinai School of Medicine, Department of Genetics and Genomic Sciences, Department of Pediatrics, New York, NY, USA.

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June 2013

Hepatocellular carcinoma in a research subject with ornithine transcarbamylase deficiency.

Authors:
James M Wilson Oleg A Shchelochkov Renata C Gallagher Mark L Batshaw

Mol Genet Metab 2012 Feb 7;105(2):263-5. Epub 2011 Nov 7.

Gene Therapy Program, Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

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February 2012

Urea cycle disorders: brain MRI and neurological outcome.

Authors:
William R Bireley Johan L K Van Hove Renata C Gallagher Laura Z Fenton

Pediatr Radiol 2012 Apr 12;42(4):455-62. Epub 2011 Oct 12.

Department of Radiology, University of Colorado, 12631 E. 17th Ave., Aurora, CO 80045, USA.

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April 2012

The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1.

Authors:
Gunter Scharer Chad Brocker Vasilis Vasiliou Geralyn Creadon-Swindell Renata C Gallagher Elaine Spector Johan L K Van Hove

J Inherit Metab Dis 2010 Oct 3;33(5):571-81. Epub 2010 Sep 3.

Department of Pediatrics, University of Colorado Denver, Aurora, CO 80045, USA.

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October 2010

Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12).

Authors:
Edward V Quadros Shao-Chiang Lai Yasumi Nakayama Jeffrey M Sequeira Luciana Hannibal Sihe Wang Donald W Jacobsen Sergey Fedosov Erica Wright Renata C Gallagher Natascia Anastasio David Watkins David S Rosenblatt

Hum Mutat 2010 Aug;31(8):924-9

Department of Medicine, SUNY-Downstate Medical Center, Brooklyn, New York 11203, USA.

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August 2010

Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy.

Authors:
Johan L K Van Hove Margarita S Saenz Janet A Thomas Renata C Gallagher Mark A Lovell Laura Z Fenton Sarah Shanske Sommer M Myers Ronald J A Wanders Jos Ruiter Marjolein Turkenburg Hans R Waterham

Pediatr Res 2010 Aug;68(2):159-64

Department of Pediatrics, University of Colorado Denver, Aurora, Colorado 80045, USA.

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August 2010

Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium.

Authors:
Jennifer Seminara Mendel Tuchman Lauren Krivitzky Jeffrey Krischer Hye-Seung Lee Cynthia Lemons Matthias Baumgartner Stephen Cederbaum George A Diaz Annette Feigenbaum Renata C Gallagher Cary O Harding Douglas S Kerr Brendan Lanpher Brendan Lee Uta Lichter-Konecki Shawn E McCandless J Lawrence Merritt Mary Lou Oster-Granite Margretta R Seashore Tamar Stricker Marshall Summar Susan Waisbren Marc Yudkoff Mark L Batshaw

Mol Genet Metab 2010 10;100 Suppl 1:S97-105. Epub 2010 Feb 10.

Children's National Medical Center, Washington, DC 20010, USA.

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July 2010

Mutation detection in DNA isolated from cerebrospinal fluid and urine: Clinical utility and pitfalls of multiple displacement amplification.

Authors:
Efraim H Rosenberg Eduard A Struys Keith Hyland Barbara Plecko Paula J Waters Saadet Mercimek-Mahmutoglu Sylvia Stockler-Ipsiroglu Renata C Gallagher Gunter Scharer Johan L K Van Hove Cornelis Jakobs Gajja S Salomons

Mol Genet Metab 2009 Aug 13;97(4):312-4. Epub 2009 May 13.

Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center (PK 1 X009), 1081 HV Amsterdam, The Netherlands.

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August 2009

Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.

Authors:
Renata C Gallagher Johan L K Van Hove Gunter Scharer Keith Hyland Barbara Plecko Paula J Waters Saadet Mercimek-Mahmutoglu Sylvia Stockler-Ipsiroglu Gajja S Salomons Efraim H Rosenberg Eduard A Struys Cornelis Jakobs

Ann Neurol 2009 May;65(5):550-6

Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado at Denver, CO, USA.

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May 2009

High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH.

Authors:
Oleg A Shchelochkov Fang-Yuan Li Michael T Geraghty Renata C Gallagher Johan L Van Hove Uta Lichter-Konecki Paul M Fernhoff Sara Copeland Tyler Reimschisel Stephen Cederbaum Brendan Lee A Craig Chinault Lee-Jun Wong

Mol Genet Metab 2009 Mar 12;96(3):97-105. Epub 2009 Jan 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.

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March 2009

Progressive cerebral vascular degeneration with mitochondrial encephalopathy.

Authors:
Nicola Longo Iris Schrijver Hannes Vogel Lynn M Pique Tina M Cowan Marzia Pasquali Gary K Steinberg Gary L Hedlund Sharon L Ernst Renata C Gallagher Gregory M Enns

Am J Med Genet A 2008 Feb;146A(3):361-7

Department of Pediatrics, Division of Medical Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah 84132, USA.

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February 2008

Clinical features and management issues in Mowat-Wilson syndrome.

Authors:
Margaret P Adam Susan Schelley Renata Gallagher April N Brady Kimberly Barr Bruce Blumberg Joseph T C Shieh John Graham Anne Slavotinek Madelena Martin Kim Keppler-Noreuil Andrea L Storm Louanne Hudgins

Am J Med Genet A 2006 Dec;140(24):2730-41

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.

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December 2006

Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5).

Authors:
Thomas J Urban Renata C Gallagher Chaline Brown Richard A Castro Leah L Lagpacan Claire M Brett Travis R Taylor Elaine J Carlson Thomas E Ferrin Esteban G Burchard Seymour Packman Kathleen M Giacomini

Mol Pharmacol 2006 Nov 24;70(5):1602-11. Epub 2006 Aug 24.

Department of Biopharmaceutical Sciences, University of California, San Francisco, 94143-2911, USA.

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November 2006

Glutaryl-CoA dehydrogenase deficiency and newborn screening: retrospective analysis of a low excretor provides further evidence that some cases may be missed.

Authors:
Renata C Gallagher Tina M Cowan Stephen I Goodman Gregory M Enns

Mol Genet Metab 2005 Nov 23;86(3):417-20. Epub 2005 Sep 23.

Department of Pediatrics, Division of Genetics, Stanford University School of Medicine, Stanford, CA, USA.

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November 2005

Clinical and mutational spectrum of Mowat-Wilson syndrome.

Authors:
Christiane Zweier Christian T Thiel Andreas Dufke Yanick J Crow Peter Meinecke Mohnish Suri Sirpa Ala-Mello Frits Beemer Sergio Bernasconi Paolo Bianchi Andrea Bier Koen Devriendt Boyan Dimitrov Helen Firth Renata C Gallagher Livia Garavelli Gabriele Gillessen-Kaesbach Louanne Hudgins Helena Kääriäinen Susan Karstens Ian Krantz Anca Mannhardt Livija Medne Jürgen Mücke Maria Kibaek Lotte Nylandsted Krogh Maarit Peippo Olaf Rittinger Solveig Schulz Susan L Schelley I Karen Temple Nick R Dennis Marjo S Van der Knaap Patricia Wheeler Baruch Yerushalmi Martin Zenker Heide Seidel A Lachmeijer Trine Prescott Cornelia Kraus R Brian Lowry Anita Rauch

Eur J Med Genet 2005 Apr-Jun;48(2):97-111. Epub 2005 Feb 25.

Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany.

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September 2005

Toriello-Carey syndrome: delineation and review.

Authors:
Helga V Toriello John C Carey Marie-Claude Addor William Allen Leah Burke Nicole Chun William Dobyns Ellen Elias Renata Gallagher Roel Hordijk Gene Hoyme Mira Irons Tamison Jewett Martine LeMerrer Mark Lubinsky Rick Martin Donna McDonald-McGinn Luitgard Neumann William Newman Richard Pauli Laurie Seaver Anna Tsai David Wargowsky Marc Williams Elaine Zackai

Am J Med Genet A 2003 Nov;123A(1):84-90

Genetics Services, Spectrum Health, Grand Rapids, Michigan, USA.

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November 2003

Evidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndrome.

Authors:
Renata C Gallagher Birgit Pils Mohammed Albalwi Uta Francke

Am J Hum Genet 2002 Sep 31;71(3):669-78. Epub 2002 Jul 31.

Department of Genetics, Stanford University School of Medicine, Stanford, CA, 94305, USA.

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September 2002