Melanie Babcock, Ph.D.
Affiliations: | 2006 | Yeshiva University, New York, NY, United States |
Area:
Genetics, Molecular BiologyGoogle:
"Melanie Babcock"Mean distance: 23748
Parents
Sign in to add mentorBernice Morrow | grad student | 2006 | Yeshiva University | |
(Organization and evolution of low copy repeats (LCR) on chromosome 22q11.) |
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Publications
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Aarabi M, Baumann J, Babcock M, et al. (2022) Chromosome 2q12.3-q13 copy number variants in patients with neurodevelopmental disorders: genotype-phenotype correlation and new hotspots. Psychiatric Genetics |
Delio M, Pope K, Wang T, et al. (2013) Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome American Journal of Medical Genetics, Part A. 161: 527-533 |
Samanich J, Montagna C, Morrow BE, et al. (2012) Interstitial duplication of 22q13.2 in a girl with short stature, impaired speech and language, and dysmorphism. Journal of Pediatric Genetics. 1: 47-53 |
Pope K, Samanich J, Ramesh KH, et al. (2012) Dextrocardia, atrial septal defect, severe developmental delay, facial anomalies, and supernumerary ribs in a child with a complex unbalanced 8;22 translocation including partial 8p duplication American Journal of Medical Genetics, Part A. 158: 641-647 |
Rosenfeld JA, Amrom D, Andermann E, et al. (2012) Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases. Neurogenetics. 13: 31-47 |
Petti M, Samanich J, Pan Q, et al. (2011) Molecular characterization of an interstitial deletion of 1p31.3 in a patient with obesity and psychiatric illness and a review of the literature American Journal of Medical Genetics, Part A. 155: 825-832 |
Rosenfeld JA, Lacassie Y, El-Khechen D, et al. (2011) New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome European Journal of Medical Genetics. 54: 42-49 |
Monks DC, Jahangir A, Shanske AL, et al. (2010) Mutational analysis of HOXA2 and SIX2 in a Bronx population with isolated microtia International Journal of Pediatric Otorhinolaryngology. 74: 878-882 |
Shan J, Chobot-Rodd J, Castellanos R, et al. (2010) GJB2 mutation spectrum in 209 hearing impaired individuals of predominantly Caribbean Hispanic and African descent International Journal of Pediatric Otorhinolaryngology. 74: 611-618 |
Alkalay A, Babcock M, Bergsmedh A, et al. (2009) 709: Gene expression profiling of lymphoblastic cell lines from monosomy 1p36 patients reveals differential regulation (expression) of cardiac and neurologic relevant genes American Journal of Obstetrics and Gynecology. 201: S257 |