Publications by authors named "Robert Stratton"

9Publications

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Authors:
Laura Castilla-Vallmanya Kaja K Selmer Clémantine Dimartino Raquel Rabionet Bernardo Blanco-Sánchez Sandra Yang Margot R F Reijnders Antonie J van Essen Myriam Oufadem Magnus D Vigeland Barbro Stadheim Gunnar Houge Helen Cox Helen Kingston Jill Clayton-Smith Jeffrey W Innis Maria Iascone Anna Cereda Sara Gabbiadini Wendy K Chung Victoria Sanders Joel Charrow Emily Bryant John Millichap Antonio Vitobello Christel Thauvin Frederic Tran Mau-Them Laurence Faivre Gaetan Lesca Audrey Labalme Christelle Rougeot Nicolas Chatron Damien Sanlaville Katherine M Christensen Amelia Kirby Raymond Lewandowski Rachel Gannaway Maha Aly Anna Lehman Lorne Clarke Luitgard Graul-Neumann Christiane Zweier Davor Lessel Bernarda Lozic Ingvild Aukrust Ryan Peretz Robert Stratton Thomas Smol Anne Dieux-Coëslier Joanna Meira Elizabeth Wohler Nara Sobreira Erin M Beaver Jennifer Heeley Lauren C Briere Frances A High David A Sweetser Melissa A Walker Catherine E Keegan Parul Jayakar Marwan Shinawi Wilhelmina S Kerstjens-Frederikse Dawn L Earl Victoria M Siu Emma Reesor Tony Yao Robert A Hegele Olena M Vaske Shannon Rego Kevin A Shapiro Brian Wong Michael J Gambello Marie McDonald Danielle Karlowicz Roberto Colombo Alessandro Serretti Lynn Pais Anne O'Donnell-Luria Alison Wray Simon Sadedin Belinda Chong Tiong Y Tan John Christodoulou Susan M White Anne Slavotinek Deborah Barbouth Dayna Morel Swols Mélanie Parisot Christine Bole-Feysot Patrick Nitschké Véronique Pingault Arnold Munnich Megan T Cho Valérie Cormier-Daire Susanna Balcells Stanislas Lyonnet Daniel Grinberg Jeanne Amiel Roser Urreizti Christopher T Gordon

Genet Med 2020 Jul 7;22(7):1215-1226. Epub 2020 May 7.

Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1038/s41436-020-0792-7DOI Listing
July 2020

Case of 7p22.1 Microduplication Detected by Whole Genome Microarray (REVEAL) in Workup of Child Diagnosed with Autism.

Case Rep Genet 2015 29;2015:212436. Epub 2015 Mar 29.

Department of Medical Genetics, Driscoll Children's Hospital, Corpus Christi, TX 78411, USA.

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http://www.hindawi.com/journals/crig/2015/212436/
Publisher Site
http://dx.doi.org/10.1155/2015/212436DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4393924PMC
April 2015

Establishing a reference group for distal 18q-: clinical description and molecular basis.

Hum Genet 2014 Feb 5;133(2):199-209. Epub 2013 Oct 5.

Department of Pediatrics, University of Texas Health Science Center, 7703 Floyd Curl Drive, San Antonio, TX, 78229, USA,

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http://dx.doi.org/10.1007/s00439-013-1364-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3947160PMC
February 2014

Metastatic medulloblastoma in an adolescent with Simpson-Golabi-Behmel syndrome.

Am J Med Genet A 2012 Oct 14;158A(10):2534-6. Epub 2012 Aug 14.

Division of Hematology/Oncology, Department of Pediatrics, The University of Texas Health Science Center, San Antonio, USA.

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http://dx.doi.org/10.1002/ajmg.a.35284DOI Listing
October 2012

Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.

Hum Genet 2002 Apr 2;110(4):297-301. Epub 2002 Mar 2.

Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1007/s00439-002-0695-5DOI Listing
April 2002