Rhonda E Schnur

Rhonda E Schnur

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Rhonda E Schnur

Rhonda E Schnur

Publications by authors named "Rhonda E Schnur"

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33Publications

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Expansion of the Primrose syndrome phenotype through the comparative analysis of two new case reports with ZBTB20 variants.

Am J Med Genet A 2019 Nov 18;179(11):2228-2232. Epub 2019 Jul 18.

Keizo Asami Laboratory, Universidade Federal de Pernambuco, Recife, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.61297DOI Listing
November 2019

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Genet Med 2019 Oct 3. Epub 2019 Oct 3.

INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-019-0657-0DOI Listing
October 2019

Variants in DOCK3 cause developmental delay and hypotonia.

Eur J Hum Genet 2019 Aug 11;27(8):1225-1234. Epub 2019 Apr 11.

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.

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http://dx.doi.org/10.1038/s41431-019-0397-2DOI Listing
August 2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2019 May 2;10(1):2079. Epub 2019 May 2.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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http://dx.doi.org/10.1038/s41467-019-10161-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6497626PMC
May 2019

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

Am J Hum Genet 2019 Feb 10;104(2):319-330. Epub 2019 Jan 10.

Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085 Strasbourg, France; Service d'Immunologie Biologique, Plateau Technique de Biologie, Pôle de Biologie, Nouvel Hôpital Civil, 1 place de l'Hôpital, 67091 Strasbourg, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.12.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369415PMC
February 2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2019 02 15;10(1):883. Epub 2019 Feb 15.

CHU Sainte-Justine Research Center, Montreal, QC, H3T 1C5, Canada.

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http://dx.doi.org/10.1038/s41467-019-08800-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377600PMC
February 2019

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2018 11 5;9(1):4619. Epub 2018 Nov 5.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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http://www.nature.com/articles/s41467-018-06014-6
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http://dx.doi.org/10.1038/s41467-018-06014-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218476PMC
November 2018

An Additional Individual with a De Novo Variant in Myelin Regulatory Factor (MYRF) with Cardiac and Urogenital Anomalies: Further Proof of Causality: Comments on the article by Pinz et al. ().

Am J Med Genet A 2018 09 2;176(9):2041-2043. Epub 2018 Aug 2.

Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.40360DOI Listing
September 2018

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

Melanoma and basal cell carcinoma in the hereditary leiomyomatosis and renal cell cancer syndrome. An expansion of the oncologic spectrum.

J Dermatol Case Rep 2016 Nov 30;10(3):53-55. Epub 2016 Nov 30.

Division of Dermatology, Cooper Medical School of Rowan University, Camden, New Jersey, USA.

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http://dx.doi.org/10.3315/jdcr.2016.1234DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5385265PMC
November 2016

Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant.

Am J Med Genet A 2016 09 17;170(9):2383-8. Epub 2016 Jun 17.

Office of Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://doi.wiley.com/10.1002/ajmg.a.37602
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http://dx.doi.org/10.1002/ajmg.a.37602DOI Listing
September 2016

Type I neurofibromatosis: a geno-oculo-dermatologic update.

Authors:
Rhonda E Schnur

Curr Opin Ophthalmol 2012 Sep;23(5):364-72

Department of Pediatrics, Cooper University Hospital, Cooper Medical School of Rowan University, Camden, New Jersey 08103, USA.

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http://dx.doi.org/10.1097/ICU.0b013e3283570127DOI Listing
September 2012

Vertically oval corneas in a child with holoprosencephaly.

J Pediatr Ophthalmol Strabismus 2012 Jul 17;49 Online:e30-2. Epub 2012 Jul 17.

Thomas Jefferson Medical College, Philadelphia, PA, USA.

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http://www.healio.com/doiresolver?doi=10.3928/01913913-20120
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http://dx.doi.org/10.3928/01913913-20120710-07DOI Listing
July 2012

Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.

Am J Hum Genet 2012 Apr 22;90(4):685-8. Epub 2012 Mar 22.

Genetic Disease Program, Sanford Children's Health Research Center, Sanford-Burnham Medical Research Institute, La Jolla, CA 92037, USA.

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http://dx.doi.org/10.1016/j.ajhg.2012.02.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3322218PMC
April 2012

Ectodermal, skeletal, and genitourinary abnormalities with neonatal hyperekplexia.

Pediatr Neurol 2011 May;44(5):381-4

Division of Neurology, Department of Pediatrics, Robert Wood Johnson School of Medicine, and Children's Regional Hospital and Cooper University Hospital, Camden, New Jersey, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S08878994110001
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http://dx.doi.org/10.1016/j.pediatrneurol.2010.12.006DOI Listing
May 2011

Grade 1 microtia, wide anterior fontanel and novel type tracheo-esophageal fistula in methimazole embryopathy.

Am J Med Genet A 2011 Mar 22;155A(3):526-33. Epub 2011 Feb 22.

Division of Medical Genetics, A. I. duPont Hospital for Children, Wilmington, Delaware, USA.

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http://doi.wiley.com/10.1002/ajmg.a.33705
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http://dx.doi.org/10.1002/ajmg.a.33705DOI Listing
March 2011

Genodermatoses 2003-2004.

Authors:
Rhonda E Schnur

Curr Opin Pediatr 2004 Dec;16(6):678-88

Division of Genetics, Department of Pediatrics, Cooper University Hospital/Robert Wood Johnson Medical School, Camden, New Jersey 08103, USA.

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http://dx.doi.org/10.1097/01.mop.0000145727.95637.d6DOI Listing
December 2004