Publications by authors named "Sarah Noon"

23Publications

A de novo SATB2 mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay.

Am J Med Genet A 2017 03;173(3):809-812

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

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http://dx.doi.org/10.1002/ajmg.a.38071DOI Listing
March 2017

CDH23 Related Hearing Loss: A New Genetic Risk Factor for Semicircular Canal Dehiscence?

Otol Neurotol 2016 12;37(10):1583-1588

*Otolaryngology Head and Neck Surgery, Dartmouth-Hitchcock Medical Center, Lebanon, New Hampshire†Otolaryngology Head and Neck Surgery, Mount Sinai, New York, New York‡Laboratory for Molecular Medicine, Cambridge; and Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts§Department of Human Genetics, University of Chicago, Illinois||Division of Radiology and Nuclear Medicine, Oslo University Hospital, Norway¶Children's Hospital of Philadelphia, Philadelphia, Pennsylvania#Children's Hospital of Pittsburgh, University of Pittsburg Medical Center, Pittsburgh, Pennsylvania**Radiology, Dartmouth-Hitchcock Medical Center, Lebanon, New Hampshire.

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https://insights.ovid.com/crossref?an=00129492-201612000-000
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http://dx.doi.org/10.1097/MAO.0000000000001210DOI Listing
December 2016

Outcomes of evaluation and testing of 660 individuals with hearing loss in a pediatric genetics of hearing loss clinic.

Am J Med Genet A 2016 10 2;170(10):2523-30. Epub 2016 Aug 2.

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

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http://dx.doi.org/10.1002/ajmg.a.37855DOI Listing
October 2016

Dr. Laird G. Jackson Festschrift.

Am J Med Genet C Semin Med Genet 2016 Jun 5;172(2):72-5. Epub 2016 May 5.

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http://dx.doi.org/10.1002/ajmg.c.31499DOI Listing
June 2016

A de novo interstitial deletion of 7q31.2q31.31 identified in a girl with developmental delay and hearing loss.

Am J Med Genet C Semin Med Genet 2016 06 13;172(2):102-8. Epub 2016 Apr 13.

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http://dx.doi.org/10.1002/ajmg.c.31488DOI Listing
June 2016

NKX2.5 mutation identification on exome sequencing in a patient with heterotaxy.

Eur J Med Genet 2014 Oct 10;57(10):558-61. Epub 2014 Aug 10.

Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA; The Perelman School of Medicine at The University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1016/j.ejmg.2014.08.003DOI Listing
October 2014

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