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SANMATI CUDDAPAH

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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Gold JI, Stefanatos AK, Fraser JL, Vanderver A, Cuddapah S. Enasidenib-induced hepatitis in an individual with Type II D2-hydroxyglutaric aciduria. JIMD Rep. 2024 May; 65(3):156-162. PMID: 38736636; PMCID: PMC11078709.
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    2. Wongkittichote P, Cuddapah SR, Master SR, Grange DK, Dietzen D, Roper SM, Ganetzky RD. Biochemical characterization of patients with dihydrolipoamide dehydrogenase deficiency. JIMD Rep. 2023 Sep; 64(5):367-374. PMID: 37701333; PMCID: PMC10494496.
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    3. 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 04; 138(4):107549. PMID: 36913764.
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    4. Priestley JRC, Pace LM, Sen K, Aggarwal A, Alves CAPF, Campbell IM, Cuddapah SR, Engelhardt NM, Eskandar M, Jol?n Garc?a 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 Dec; 33:100931. PMID: 36420423; PMCID: PMC9676216.
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    5. 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 12; 15(6):e003707. PMID: 36350761; PMCID: PMC9771952.
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    6. 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 07 01; 150(1). PMID: 35642503; PMCID: PMC9724118.
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    7. 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 06; 24(6):1227-1237. PMID: 35300924; PMCID: PMC9923403.
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    8. 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 12 02; 108(12):2368-2384. PMID: 34800363; PMCID: PMC8715183.
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    9. Cuddapah S, Krantz ID. 50 Years Ago in TheJournalofPediatrics: I-Cell Disease: The More Things Change, the More They Stay the Same. J Pediatr. 2021 Sep; 236:291. PMID: 34446173.
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    10. 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 07; 185(7):2168-2174. PMID: 33960657; PMCID: PMC8360119.
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    11. Polla DL, Bhoj EJ, Verheij JBGM, Wassink-Ruiter JSK, Reis A, Deshpande C, Gregor A, Hill-Karfe K, Silfhout ATV, Pfundt R, Bongers EMHF, Hakonarson H, Berland S, Gradek G, Banka S, Chandler K, Gompertz L, Huffels SC, Stumpel CTRM, Wennekes R, Stegmann APA, Reardon W, Leenders EKSM, de Vries BBA, Li D, Zackai E, Ragge N, Lynch SA, Cuddapah S, van Bokhoven H, Zweier C, de Brouwer APM. De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females. Genet Med. 2021 04; 23(4):645-652. PMID: 33244165.
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    12. 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 Nov 13; 6(4). PMID: 33202836; PMCID: PMC7712483.
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    13. 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 06; 179(6):1042-1046. PMID: 30919579.
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    14. 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 Jun; 3(2). PMID: 28748224; PMCID: PMC5523953.
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    15. 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 08; 19(8):926-935. PMID: 28151490; PMCID: PMC6082364.
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    16. Cuddapah SR, Kominek S, Grant JH, Robin NH. IRF6 Sequencing in Interrupted Clefting. Cleft Palate Craniofac J. 2016 05; 53(3):373-6. PMID: 26090788.
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