Publications by authors named "Grace J Noh"

6Publications

Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.

Authors:
Anna Fliedner Philipp Kirchner Antje Wiesener Irma van de Beek Quinten Waisfisz Mieke van Haelst Daryl A Scott Seema R Lalani Jill A Rosenfeld Mahshid S Azamian Fan Xia Marina Dutra-Clarke Julian A Martinez-Agosto Hane Lee Grace J Noh Natalie Lippa Anna Alkelai Vimla Aggarwal Katherine E Agre Ralitza Gavrilova Ghayda M Mirzaa Rachel Straussberg Rony Cohen Brooke Horist Vidya Krishnamurthy Kirsty McWalter Jane Juusola Laura Davis-Keppen Lisa Ohden Marjon van Slegtenhorst Stella A de Man Arif B Ekici Anne Gregor Ingrid van de Laar Christiane Zweier

Am J Hum Genet 2020 09 29;107(3):544-554. Epub 2020 Jul 29.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany. Electronic address:

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September 2020

Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive.

Authors:
Simon Edvardson Claudia M Nicolae Grace J Noh Jennifer E Burton Giuseppe Punzi Avraham Shaag Jessica Bischetsrieder Anna De Grassi Ciro Leonardo Pierri Orly Elpeleg George-Lucian Moldovan

Am J Hum Genet 2019 01 27;104(1):179-185. Epub 2018 Dec 27.

Department of Biochemistry and Molecular Biology, Pennsylvania State University College of Medicine, 500 University Drive, Hershey, PA 17033, USA. Electronic address:

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January 2019

Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges.

Authors:
Deborah Krakow Daniel H Cohn William R Wilcox Grace J Noh Leslie J Raffel Anna Sarukhanov Margarita H Ivanova Moise Danielpour Dorothy K Grange Alison M Elliott Jonathan A Bernstein David L Rimoin Amy E Merrill Ralph S Lachman

Am J Med Genet A 2016 10 30;170(10):2652-61. Epub 2016 May 30.

International Skeletal Dysplasia Registry, University of California, Los Angeles, California.

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October 2016

2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features.

Authors:
Grace J Noh John M Graham

Eur J Med Genet 2012 May 29;55(5):354-7. Epub 2012 May 29.

Medical Genetics Institute, Cedars-Sinai Medical Center, 8700 Beverly Blvd, Los Angeles, CA 90048, USA.

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May 2012

Clinical review of genetic epileptic encephalopathies.

Authors:
Grace J Noh Y Jane Tavyev Asher John M Graham

Eur J Med Genet 2012 May 25;55(5):281-98. Epub 2012 Jan 25.

Clinical Genetics and Dysmorphology, Medical Genetics Institute, Cedars-Sinai Medical Center, 8700 Beverly Blvd, Los Angeles, CA 90048, USA.

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May 2012

2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features.

Authors:
Grace J Noh John M Graham

Eur J Med Genet 2012 Jan 24;55(1):59-62. Epub 2011 Oct 24.

Medical Genetics Institute, Cedars-Sinai Medical Center, 8700 Beverly Blvd, PACT, Suite 400, Los Angeles, CA 90048, USA.

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January 2012