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Faculty Detail    
Name NATHANIEL ROBIN
 
Campus Address KAUL 210 Zip 0024
Phone  205-934-9528
E-mail  nrobin@uab.edu
Other websites
     


Faculty Appointment(s)
Appointment Type Department Division Rank
Primary  Genetics   Clinical Genetics Professor
Secondary  Pediatrics   Pediatrics Chair Office Professor
Secondary  Surgery   Surgery - Otolaryngology (Org Ret) Professor
Center  General Clinical Research Center  Center for Outcomes & Effectiveness Res & Educ Professor

Biographical Sketch 
Dr. Robin completed his MD degree and a pediatric residency at Albert Einstein College of Medicine in Bronx, New York. He was a clinical fellow in the Division of Human Genetics and Molecular Biology and the Division of Biochemical Genetics at The Children’s Hospital of Philadelphia, Pennsylvania, where he also served a research fellowship in the laboratory of Max Muenke.
Dr. Robin has two primary activities within the Department of Genetics. First, he has an active clinical genetics practice. While he sees patients for any indication, his main interests are in clefting and craniofacial genetics, and genetic cardiovascular disease, including Marfan syndrome. His other role is as an educator. He is the director of the genetics residency programs, and supervises all the educational activities of the department with respect to the UAB School of Medicine as well as all other UAB residency programs. Dr. Robin is also very active in the pre-clinical education at the UAB School of Medicine, where he is co-director for the Fundamentals I module and lectures throughout years 1-4. He is past President of the Medical Genetics Residency Directors' Group.

Society Memberships
Organization Name Position Held Org Link
American College of Medical Genetics     
American Society of Human Genetics     

Research/Clinical Interest
Title
RESEARCH: Oro-facial clefting and craniofacial genetics; genetics of deafness; syndrome delineation; clinical use of genetic testing. CLINICAL: General clinical genetics, with a focus on oro-facial clefting and craniofacial disorders; adult cardiovas
Description
In general, my research flows from my clinical and educational activities. The overarching focus of my research interests focus on how we are translating the advances made in the basic science understanding of the human genome into clinical practice. We have carried out several studies on how non-genetics clinicians are utilizing genetic testing in their practices. These studies have revealed interesting trends among these groups of physicians, highlighting the need for increased education.

Selected Publications 
Publication PUBMEDID
Jacobs AP, Subramaniam A, Tang Y, Philips JB 3rd, Biggio JR, Edwards RK, Robin NH (2016). Trisomy 18: A survey of opinions, attitudes, and practices of neonatologists.Am J Med Genet A. 2016 Oct;170(10):2638-43.  27312333  
Berko ER, Cho MT, Eng C, Shao Y, Sweetser DA, Waxler J, Robin NH, Brewer F, Donkervoort S, Mohassel P, Bönnemann CG, Bialer M, Moore C, Wolfe LA, Tifft CJ, Shen Y, Retterer K, Millan F, Chung WK (2016). De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. J Hum Genet. 2016 Sep 1;99(3):720-7.   27545676  
Cuddapah SR, Kominek S, Grant JH 3rd, Robin NH (2016). IRF6 Sequencing in Interrupted Clefting.Cleft Palate Craniofac J. 2016 May;53(3):373-6.  26090788  
Farmer MB, Robin NH (2015), The genetic assessment of pediatric cancer.Curr Opin Pediatr. 2015 Dec;27(6):657-8.   26474339  
American College of Medical Genetics and Genomics working group (2014). Guidelines on the genetic evaluation of hearing loss Genet Med. 16:347-55.  24651602  
Rojnueangnit K, Mikhail FM, Cui X, Yu S, Robin NH (2015). Predictor(s) of Abnormal Array Comparative Genomic Hybridization Results in Patients With Cleft Lip and/or Palate.Cleft Palate Craniofac J. 2015 Nov;52(6):724-31.  25489768  
Rojnueangnit K, Jones JR, Basehore MJ, Robin NH (2014). Classic phenotype of Coffin-Lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain.Am J Med Genet A. 164:516-21.  24311527  
Hamm JA, Mikhail FM, Hollenbeck D, Farmer M, Robin NH (2014). Incidental Detection of Cancer Predisposition Gene Copy Number Variations by Array Comparative Genomic Hybridization. JPeds 3476(14)00690-8  25201531