Publications by authors named "Robert Roger Lebel"

21Publications

50 Years Ago in The Journal of Pediatrics: A Familial Syndrome of Renal, Genital, and Middle Ear Anomalies.

J Pediatr 2018 01;192:129

Departments of Pediatrics, Internal Medicine, Obstetrics/Gynecology, Pathology and Bioethics & the Humanities SUNY Upstate Medical University Syracuse, New York.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2017.07.042DOI Listing
January 2018

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Authors:
Fadi F Hamdan Candace T Myers Patrick Cossette Philippe Lemay Dan Spiegelman Alexandre Dionne Laporte Christina Nassif Ousmane Diallo Jean Monlong Maxime Cadieux-Dion Sylvia Dobrzeniecka Caroline Meloche Kyle Retterer Megan T Cho Jill A Rosenfeld Weimin Bi Christine Massicotte Marguerite Miguet Ledia Brunga Brigid M Regan Kelly Mo Cory Tam Amy Schneider Georgie Hollingsworth David R FitzPatrick Alan Donaldson Natalie Canham Edward Blair Bronwyn Kerr Andrew E Fry Rhys H Thomas Joss Shelagh Jane A Hurst Helen Brittain Moira Blyth Robert Roger Lebel Erica H Gerkes Laura Davis-Keppen Quinn Stein Wendy K Chung Sara J Dorison Paul J Benke Emily Fassi Nicole Corsten-Janssen Erik-Jan Kamsteeg Frederic T Mau-Them Ange-Line Bruel Alain Verloes Katrin Õunap Monica H Wojcik Dara V F Albert Sunita Venkateswaran Tyson Ware Dean Jones Yu-Chi Liu Shekeeb S Mohammad Peyman Bizargity Carlos A Bacino Vincenzo Leuzzi Simone Martinelli Bruno Dallapiccola Marco Tartaglia Lubov Blumkin Klaas J Wierenga Gabriela Purcarin James J O'Byrne Sylvia Stockler Anna Lehman Boris Keren Marie-Christine Nougues Cyril Mignot Stéphane Auvin Caroline Nava Susan M Hiatt Martina Bebin Yunru Shao Fernando Scaglia Seema R Lalani Richard E Frye Imad T Jarjour Stéphanie Jacques Renee-Myriam Boucher Emilie Riou Myriam Srour Lionel Carmant Anne Lortie Philippe Major Paola Diadori François Dubeau Guy D'Anjou Guillaume Bourque Samuel F Berkovic Lynette G Sadleir Philippe M Campeau Zoha Kibar Ronald G Lafrenière Simon L Girard Saadet Mercimek-Mahmutoglu Cyrus Boelman Guy A Rouleau Ingrid E Scheffer Heather C Mefford Danielle M Andrade Elsa Rossignol Berge A Minassian Jacques L Michaud

Am J Hum Genet 2017 Nov;101(5):664-685

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2017.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673604PMC
November 2017

Two cases of Legg-Perthes and intellectual disability in Tricho-Rhino-Phalangeal syndrome type 1 associated with novel TRPS1 mutations.

Am J Med Genet A 2017 Jun 3;173(6):1663-1667. Epub 2017 Mar 3.

Department of Pediatrics, Division of Genetic and Genomic Medicine, University of California, Irvine, Orange, California.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38204DOI Listing
June 2017

Gastrointestinal manifestations in diploid/triploid mixoploidy.

J Pediatr Gastroenterol Nutr 2015 Jun;60(6):799-801

*Department of Surgery, Aga Khan University †Medical Genetics Section ‡Division of Pediatric Gastroenterology, SUNY Upstate Medical University, Syracuse, NY.

View Article

Download full-text PDF

Source
http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
Publisher Site
http://dx.doi.org/10.1097/MPG.0000000000000622DOI Listing
June 2015

A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain.

Eur J Hum Genet 2014 May 18;22(5):594-601. Epub 2013 Sep 18.

Department of Clinical Genetics, Greenwood Genetic Center, Charleston Office, North Charleston, SC, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2013.207DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3992569PMC
May 2014

Risks of reproducing with a genetic disorder.

Semin Reprod Med 2013 Jul 17;31(4):258-66. Epub 2013 Jun 17.

Center for Behavior, Development, and Genetics, Medical Genetics, SUNY Upstate Medical University, Syracuse, New York 13202, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0033-1345273DOI Listing
July 2013

That personal touch.

Hastings Cent Rep 2011 May-Jun;41(3):6-7

View Article

Download full-text PDF

Source
July 2011

Prenatal diagnostic accuracy in South Carolina demonstrated by autopsy.

Fetal Pediatr Pathol 2009 ;28(6):253-61

Center for Anatomic Studies, Greenwood Genetic Center, Greenwood, Greenwood, SC 29646, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/15513810903202737DOI Listing
January 2010

Fetal peritonitis due to appendiceal rupture: a rare complication of hydrops.

Fetal Pediatr Pathol 2008 ;27(3):121-5

Center for Anatomic Studies, Greenwood Genetic Center, Greenwood, South Carolina, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/15513810802077495DOI Listing
August 2008

Cancer epidemiology and outcomes for the State of South Carolina.

J S C Med Assoc 2007 Feb;103(1):18

View Article

Download full-text PDF

Source
February 2007

Quantitative standards for fetal and neonatal autopsy.

Am J Clin Pathol 2006 Aug;126(2):256-65

Office of Epidemiology, Greenwood Genetic Center, Greenwood, SC, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1309/FK9D-5WBA-1UEP-T5BBDOI Listing
August 2006

Genetic drift: Unexpected resiliency.

Am J Med Genet A 2006 Jun;140(12):1264-6

Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31283DOI Listing
June 2006

The duty to re-contact for newly appreciated risk factors: fragile X premutation.

J Clin Ethics 2006 ;17(1):46-52

Greenwood Genetic Center in Greenwood, South Carolina, USA.

View Article

Download full-text PDF

Source
June 2006

Regarding trisomy 18.

Am J Med Genet A 2006 May;140(9):964-5

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31170DOI Listing
May 2006

Aberrant nuclear projections of neutrophils in trisomy 13.

Arch Pathol Lab Med 2004 Feb;128(2):243-4

Department of Pathology, Henry Ford Hospital, Detroit, Mich 48202, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1043/1543-2165(2004)128<243:ANPONI>2.0.CO;2DOI Listing
February 2004

Responsibility in genetic decisions.

Bioethics Northwest 1977 ;1(3):4, 10-11

View Article

Download full-text PDF

Source
April 1982