Sara Halbach

Sara Halbach

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Sara Halbach

Sara Halbach

Publications by authors named "Sara Halbach"

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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

Syndromic craniosynostosis associated with microdeletion of chromosome 19p13.12-19p13.2.

Genes Dis 2015 Dec 21;2(4):347-352. Epub 2015 Sep 21.

Department of Surgery, University of Chicago, 5841 S. Maryland Ave, M/C 0077, Chicago, IL 60637.

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http://dx.doi.org/10.1016/j.gendis.2015.09.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4782977PMC
December 2015

4q21 microdeletion in a patient with epilepsy and brain malformations.

Am J Med Genet A 2015 Jun 2;167(6):1409-13. Epub 2015 Apr 2.

Department of Pediatrics, University of Chicago Comer Children's Hospital, Chicago, Illinios.

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http://dx.doi.org/10.1002/ajmg.a.36910DOI Listing
June 2015

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.

Eur J Hum Genet 2014 Jan 1;22(1):57-63. Epub 2013 May 1.

1] Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA [2] Department of Pediatrics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA [3] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1038/ejhg.2013.67DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865402PMC
January 2014

Expanding the spectrum of microdeletion 4q21 syndrome: a partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and Pierre Robin sequence.

Am J Med Genet A 2013 Sep 2;161A(9):2327-33. Epub 2013 Aug 2.

Division of Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1002/ajmg.a.36061DOI Listing
September 2013

A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay.

Eur J Med Genet 2009 Jul-Aug;52(4):265-8. Epub 2008 Dec 13.

Division of Human Genetics, Bioinformatics Core, Center for Applied Genomics, Children's Hospital of Philadelphia, and Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S176972120800165
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http://dx.doi.org/10.1016/j.ejmg.2008.11.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4391973PMC
November 2009