Sanmati Cuddapah, MD
Appointments and Referrals: 1-800-TRY-CHOP (1-800-879-2467)
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Appointments and Referrals: 1-800-TRY-CHOP (1-800-879-2467)
Emory University School of Medicine, Atlanta, GA
University of Alabama at Birmingham, Birmingham, AL
Pediatrics and Medical Genetics, University of Alabama at Birmingham
Clinical Genetics and Genomics – American Board of Medical Genetics and GenomicsPediatrics – American Board of Pediatrics
Attending Physician, Section of Biochemical Genetics
Director, Williams Syndrome Clinic
Assistant Professor of Clinical Pediatrics
Program Director, Medical Genetics Residency Program
Associate Chief for Education and Training, Division of Human Genetics
Wongkittichote P, Hong X, Master SR, Kaur S, Cuddapah SR, He M. 2-Methylglutaconic acid as a biomarker in routine urine organic acids leading to the diagnosis of glutaric acidemia type I in a low excretor. Mol Genet Metab. 2023 Feb 23;138(4):107549. doi: 10.1016/j.ymgme.2023.107549. Epub ahead of print. PMID: 36913764.
Priestley JRC, Pace LM, Sen K, Aggarwal A, Alves CAPF, Campbell IM, Cuddapah SR, Engelhardt NM, Eskandar M, Jolín García PC, Gropman A, Helbig I, Hong X, Gowda VK, Lusk L, Trapane P, Srinivasan VM, Suwannarat P, Ganetzky RD. Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature. Mol Genet Metab Rep. 2022. PMID: 36420423. Boerio ML, Engelhardt NM, Cuddapah S, Gold JI, Marin IC, Pinard A, Guo D, Prakash SK, Milewicz DM. Further Evidence That ARIH1 Rare Variants Predispose to Thoracic Aortic Disease. Circ Genom Precis Med. 2022. PMID: 36350761.
Szigety KM, Crowley TB, Gaiser KB, Chen EY, Priestley JRC, Williams LS, Rangu SA, Wright CM, Adusumalli P, Ahrens-Nicklas RC, Calderon B, Cuddapah SR, Edmondson A, Ficicioglu C, Ganetzky R, Kalish JM, Krantz ID, McDonald-McGinn DM, Medne L, Muraresku C, Pyle LC, Zackai EH, Campbell IM, Sheppard SE. Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care. Pediatrics. 2022. PMID: 35642503.
Ritter AL, Gold J, Hayashi H, Ackermann AM, Hanke S, Skraban C, Cuddapah S, Bhoj E, Li D, Kuroda Y, Wen J, Takeda R, Bibb A, El Chehadeh S, Piton A, Ohl J, Kukolich MK, Nagasaki K, Kato K, Ogi T, Bhatti T, Russo P, Krock B, Murrell JR, Sullivan JA, Shashi V, Stong N, Hakonarson H, Sawano K, Torti E, Willaert R, Si Y, Wilcox WR, Wirgenes KV, Thomassen K, Carlotti K, Erwin A, Lazier J, Marquardt T, He M, Edmondson AC, Izumi K. Expanding the phenotypic spectrum of ARCN1-related syndrome. Genet Med. 2022. PMID: 35300924.
Yap ZY, Efthymiou S, Seiffert S, Vargas Parra K, Lee S, Nasca A, Maroofian R, Schrauwen I, Pendziwiat M, Jung S, Bhoj E, Striano P, Mankad K, Vona B, Cuddapah S, Wagner A, Alvi JR, Davoudi-Dehaghani E, Fallah MS, Gannavarapu S, Lamperti C, Legati A, Murtaza BN, Nadeem MS, Rehman MU, Saeidi K, Salpietro V, von Spiczak S, Sandoval A, Zeinali S, Zeviani M, Reich A; SYNaPS Study Group; University of Washington Center for Mendelian Genomics; Jang C, Helbig I, Barakat TS, Ghezzi D, Leal SM, Weber Y, Houlden H, Yoon WH. Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia. Am J Hum Genet. 2021. PMID: 34800363. Cuddapah S, Krantz ID. 50 Years Ago in The Journal of Pediatrics: I-Cell Disease: The More Things Change, the More They Stay the Same. J Pediatr. 2021. PMID: 34446173.
Strong A, O'Grady G, Shih E, Bishop JR, Loomes K, Diamond T, Hartung EA, Wong W, Cuddapah S, Cahill AM, Hou C, Slater D, Vaccaro C, Watson D, Li D, Hakonarson H. A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213. Am J Med Genet A. 2021. PMID: 33960657.
Ficicioglu C, Ahrens-Nicklas RC, Barch J, Cuddapah SR, DiBoscio BS, DiPerna JC, Gordon PL, Henderson N, Menello C, Luongo N, Ortiz D, Xiao R. Newborn Screening for Pompe Disease: Pennsylvania Experience. Int J Neonatal Screen. 2020. PMID: 33202836.
Ritter A, Cuddapah S, Degenhardt K, Kasperski S, Johnson MP, O'Connor MJ, Ahrens-Nicklas R. Fetal cardiomyopathy in neurofibromatosis type I: Novel phenotype and review of the literature. Am J Med Genet A. 2019. PMID: 30919579.
Dowsett L, Lulis L, Ficicioglu C, Cuddapah S. Utility of Genetic Testing for Confirmation of Abnormal Newborn Screening in Disorders of Long-Chain Fatty Acids: A Missed Case of Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency. Int J Neonatal Screen. 2017. PMID: 28748224.
Ahrens-Nicklas RC, Whitaker AM, Kaplan P, Cuddapah S, Burfield J, Blair J, Brochi L, Yudkoff M, Ficicioglu C. Efficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experience. Genet Med. 2017. PMID: 28151490.
American College of Medical Genetics
Society for Inherited Metabolic Disorders
Association of Professors of Human and Medical Genetics
Accreditation Council for Graduate Medical Education, Review Committee Member
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