Elizabeth Roeder

Elizabeth Roeder

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Elizabeth Roeder

Elizabeth Roeder

Publications by authors named "Elizabeth Roeder"

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Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Authors:
Daniela A Braun Jia Rao Geraldine Mollet David Schapiro Marie-Claire Daugeron Weizhen Tan Olivier Gribouval Olivia Boyer Patrick Revy Tilman Jobst-Schwan Johanna Magdalena Schmidt Jennifer A Lawson Denny Schanze Shazia Ashraf Jeremy F P Ullmann Charlotte A Hoogstraten Nathalie Boddaert Bruno Collinet Gaëlle Martin Dominique Liger Svjetlana Lovric Monica Furlano I Chiara Guerrera Oraly Sanchez-Ferras Jennifer F Hu Anne-Claire Boschat Sylvia Sanquer Björn Menten Sarah Vergult Nina De Rocker Merlin Airik Tobias Hermle Shirlee Shril Eugen Widmeier Heon Yung Gee Won-Il Choi Carolin E Sadowski Werner L Pabst Jillian K Warejko Ankana Daga Tamara Basta Verena Matejas Karin Scharmann Sandra D Kienast Babak Behnam Brendan Beeson Amber Begtrup Malcolm Bruce Gaik-Siew Ch'ng Shuan-Pei Lin Jui-Hsing Chang Chao-Huei Chen Megan T Cho Patrick M Gaffney Patrick E Gipson Chyong-Hsin Hsu Jameela A Kari Yu-Yuan Ke Cathy Kiraly-Borri Wai-Ming Lai Emmanuelle Lemyre Rebecca Okashah Littlejohn Amira Masri Mastaneh Moghtaderi Kazuyuki Nakamura Fatih Ozaltin Marleen Praet Chitra Prasad Agnieszka Prytula Elizabeth R Roeder Patrick Rump Rhonda E Schnur Takashi Shiihara Manish D Sinha Neveen A Soliman Kenza Soulami David A Sweetser Wen-Hui Tsai Jeng-Daw Tsai Rezan Topaloglu Udo Vester David H Viskochil Nithiwat Vatanavicharn Jessica L Waxler Klaas J Wierenga Matthias T F Wolf Sik-Nin Wong Sebastian A Leidel Gessica Truglio Peter C Dedon Annapurna Poduri Shrikant Mane Richard P Lifton Maxime Bouchard Peter Kannu David Chitayat Daniella Magen Bert Callewaert Herman van Tilbeurgh Martin Zenker Corinne Antignac Friedhelm Hildebrandt

Nat Genet 2017 Oct 14;49(10):1529-1538. Epub 2017 Aug 14.

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

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http://www.nature.com/doifinder/10.1038/ng.3933
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http://dx.doi.org/10.1038/ng.3933DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5819591PMC
October 2017

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Authors:
Przemyslaw Szafranski Tomasz Gambin Avinash V Dharmadhikari Kadir Caner Akdemir Shalini N Jhangiani Jennifer Schuette Nihal Godiwala Svetlana A Yatsenko Jessica Sebastian Suneeta Madan-Khetarpal Urvashi Surti Rosanna G Abellar David A Bateman Ashley L Wilson Melinda H Markham Jill Slamon Fernando Santos-Simarro María Palomares Julián Nevado Pablo Lapunzina Brian Hon-Yin Chung Wai-Lap Wong Yoyo Wing Yiu Chu Gary Tsz Kin Mok Eitan Kerem Joel Reiter Namasivayam Ambalavanan Scott A Anderson David R Kelly Joseph Shieh Taryn C Rosenthal Kristin Scheible Laurie Steiner M Anwar Iqbal Margaret L McKinnon Sara Jane Hamilton Kamilla Schlade-Bartusiak Dawn English Glenda Hendson Elizabeth R Roeder Thomas S DeNapoli Rebecca Okashah Littlejohn Daynna J Wolff Carol L Wagner Alison Yeung David Francis Elizabeth K Fiorino Morris Edelman Joyce Fox Denise A Hayes Sandra Janssens Elfride De Baere Björn Menten Anne Loccufier Lieve Vanwalleghem Philippe Moerman Yves Sznajer Amy S Lay Jennifer L Kussmann Jasneek Chawla Diane J Payton Gael E Phillips Erwin Brosens Dick Tibboel Annelies de Klein Isabelle Maystadt Richard Fisher Neil Sebire Alison Male Maya Chopra Jason Pinner Girvan Malcolm Gregory Peters Susan Arbuckle Melissa Lees Zoe Mead Oliver Quarrell Richard Sayers Martina Owens Charles Shaw-Smith Janet Lioy Eileen McKay Nicole de Leeuw Ilse Feenstra Liesbeth Spruijt Frances Elmslie Timothy Thiruchelvam Carlos A Bacino Claire Langston James R Lupski Partha Sen Edwina Popek Paweł Stankiewicz

Hum Genet 2016 May 12;135(5):569-586. Epub 2016 Apr 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm. R809, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1007/s00439-016-1655-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5518754PMC
May 2016

A de novo 1.58 Mb deletion, including MAP2K6 and mapping 1.28 Mb upstream to SOX9, identified in a patient with Pierre Robin sequence and osteopenia with multiple fractures.

Am J Med Genet A 2015 Aug 8;167A(8):1842-50. Epub 2015 Jun 8.

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

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http://dx.doi.org/10.1002/ajmg.a.37057DOI Listing
August 2015

Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1.

PLoS One 2014 9;9(9):e107028. Epub 2014 Sep 9.

Center for Reproductive Medicine, Baylor College of Medicine, Houston, Texas, United States of America; Scott Department of Urology, Baylor College of Medicine, Houston, Texas, United States of America; Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0107028PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4159299PMC
May 2015

Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review.

BMC Med Genet 2015 Mar 14;16:12. Epub 2015 Mar 14.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, MS NAB 2015, Houston, TX, 77030, U.S.A.

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http://dx.doi.org/10.1186/s12881-015-0157-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422130PMC
March 2015

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Hum Mol Genet 2014 Jun 8;23(11):2888-900. Epub 2014 Jan 8.

Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.

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http://dx.doi.org/10.1093/hmg/ddu002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014191PMC
June 2014

A patient with a unique frameshift mutation in GPC3, causing Simpson-Golabi-Behmel syndrome, presenting with craniosynostosis, penoscrotal hypospadias, and a large prostatic utricle.

Am J Med Genet A 2013 Dec 2;161A(12):3121-5. Epub 2013 Oct 2.

Department of Cellular and Structural Biology, School of Medicine, The University of Texas Health Science Center at San Antonio, San Antonio, Texas.

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http://dx.doi.org/10.1002/ajmg.a.36086DOI Listing
December 2013

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

Homozygous myotonic dystrophy: clinical findings in two patients and review of the literature.

Am J Med Genet A 2007 Sep;143A(17):2058-61

Institut für Humangenetik, Universitätsklinikum Schleswig-Holstein, Campus Lübeck, Germany.

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http://dx.doi.org/10.1002/ajmg.a.31772DOI Listing
September 2007

Risk factors for perinatal arterial stroke: a study of 60 mother-child pairs.

Pediatr Neurol 2007 Aug;37(2):99-107

Genetic Medicine Central California, Department of Pediatrics, University of California, San Francisco, California, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2007.04.007DOI Listing
August 2007

Ser351Cys mutation in the fibroblast growth factor receptor 2 gene results in severe Pfeiffer syndrome.

Clin Dysmorphol 2006 Jul;15(3):187-8

Department of Pediatrics, Chattanooga Unit of the University of Tennessee College of Medicine, Chattanooga, Tennessee 37403, USA.

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http://dx.doi.org/10.1097/01.mcd.0000198930.32200.73DOI Listing
July 2006

Neonatal phenotype in Kabuki syndrome.

Am J Med Genet A 2005 Jan;132A(3):244-7

Department of Pediatrics, University of California, San Diego, La Jolla, California, USA.

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http://dx.doi.org/10.1002/ajmg.a.30336DOI Listing
January 2005

MICRO syndrome: an entity distinct from COFS syndrome.

Am J Med Genet A 2004 Jul;128A(3):235-45

Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, SHARE's Child Disability Center, UCLA School of Medicine, Cedars-Sinai Medical Center, Los Angeles, California 90048, USA.

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http://dx.doi.org/10.1002/ajmg.a.30060DOI Listing
July 2004

Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features.

Proc Natl Acad Sci U S A 2003 Nov 27;100(23):13424-9. Epub 2003 Oct 27.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-1852, USA.

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http://dx.doi.org/10.1073/pnas.2235734100DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC263830PMC
November 2003

A stereo music system as environmental enrichment for captive chimpanzees.

Lab Anim (NY) 2003 Nov;32(10):31-6

Primate Foundation of Arizona, PO Box 20027, Mesa, AZ 85277-0027, USA.

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http://dx.doi.org/10.1038/laban1103-31DOI Listing
November 2003