Kosuke Izumi, M.D., Ph.D. Titles and Appointments Assistant Professor Schools Medical School | Graduate School Departments Pediatrics | Children's Medical Center Research Institute at UT Southwestern Graduate Programs Genetics, Development and Disease You have reached the Academic Profile. For more information on the doctor and patient care, please visit the clinical profile. Biography Dr. Izumi obtained his MD and PhD at Keio University School of Medicine, where he studied molecular mechanism of pediatric genetic disorders. He completed clinical pediatrics and genetics training at Rainbow Babies and Children’s Hospital and the Children’s Hospital of Philadelphia. He achieved board certification in pediatrics and medical genetics. After the clinical training, he became a post-doc at the Children’s Hospital of Philadelphia and the University of Tokyo. During his post-doc training, he investigated molecular mechanism of a chromosomal disorder, Pallister-Killian syndrome, and syndromic neurodevelopmental disorders. Prior to joining the University of Texas Southwestern, he was a faculty member of the Children’s Hospital of Philadelphia. In 2023, he joined the Department of Pediatrics, University of Texas Southwestern. His research lab has focused on projects studying the molecular mechanisms of Pallister-Killian Syndrome, nuclear speckle disorders, and chromatin disorders. His group discovered causative genes for many Mendelian disorders, and those include AFF4, ARCN1, NKAP, and CBX1. By employing cutting-edge genomic technologies, his research aims to link the clinical findings of patients with genetic disorders to underlying genomic functional alterations. Education Medical School Keio University School of Medicine/Tokyo (2003) Other Post Graduate Training Keio University Graduate School of Medicine/Tokyo (2008) Residency Case Western Reserve University/University Hospitals Case Medical Center (2010), Pediatrics Residency Children's Hospital of Philadelphia (2012), Pediatrics & Medical Genetics Research Interest Chromatin biology Chromosome biology Dysmorphology Epigenetics Neurocognitive impairment Transcriptomics Publications De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders Uguen K, Bergot T, Scott-Boyer MP, Chapalain S, Desdouets C, Commet S, Zhu C, Xu Y, Wang Y, Roscioli T, Tran-Mau-Them F, Faivre L, Maraval J, Delanne J, Denommé-Pichon AS, Vitobello A, Jost C, Planes M, Hiatt S, Wheeler P, Gonzaga-Jauregui C, Wang H, Xin B, Sency V, Kruer MC, Bakhtiari S, Sulem P, Curry C, Prescott T, Strobl-Wildemann G, Brunet T, Doco Fenzy M, Courtin T, Poirsier C, Bjørg Hammer T, Fenger CD, MacPherson M, Izumi K, Leonard J, Li D, Zackai EH, Glass IA, Ward S, Campeau PM, Borroto MC, Le Moigno L, Van Esch H, De Waele L, Calame DG, Lupski JR, Barcia G, Peduto C, Planté-Bordeneuve P, Dupuis L, Mendoza-Londono R, Stavropoulos DJ, Gillibert-Duplantier J, Besnard T, Do Souto Ferreira L, Cogné B, Bézieau S, Droit A, Corcos L, Lippert E, Férec C, Küry S, Bernard DG Nature communications 2026 Dec 17 RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS Dharmadhikari AV, Abad MA, Khan S, Maroofian R, Sands TT, Ullah F, Samejima I, Shen Y, Wear MA, Moore KE, Kondakova E, Mitina N, Schaub T, Lee GK, Umandap CH, Berger SM, Iglesias AD, Popp B, Abou Jamra R, Gabriel H, Rentas S, Rippert AL, Gray C, Izumi K, Conlin LK, Koboldt DC, Mosher TM, Hickey SE, Albert DV, Norwood H, Lewanda AF, Dai H, Liu P, Mitani T, Marafi D, Eker HK, Pehlivan D, Posey JE, Lippa NC, Vena N, Heinzen EL, Goldstein DB, Mignot C, de Sainte Agathe JM, Al-Sannaa NA, Zamani M, Sadeghian S, Azizimalamiri R, Seifia T, Zaki MS, Abdel-Salam GM, Abdel-Hamid MS, Alabdi L, Alkuraya FS, Dawoud H, Lofty A, Bauer P, Zifarelli G, Afzal E, Zafar F, Efthymiou S, Gossett D, Towne MC, Yeneabat R, Perez-Duenas B, Cazurro-Gutierrez A, Verdura E, Cantarin-Extremera V, Marques Ad, Helwak A, Tollervey D, Wontakal SN, Aggarwal VS, Rosenfeld JA, Tarabykin V, Ohta S, Lupski JR, Houlden H, Earnshaw WC, Davis EE, Jeyaprakash AA, Liao J Nature communications 2025 Dec 16 Rothmund-Thomson Syndrome Type 2 in an African American/Puerto Rican Child Demonstrates Diagnostic Challenges in Diverse Population Teferedegn E, Izumi K, Ahrens-Nicklas R, Bhoj E, Rippert A American Journal of Medical Genetics, Part A 2025 Oct 197 Expansion of the Genotypic and Phenotypic Spectrum of SETD5 Disorder Using Data From the National Brain Gene Registry Author Collaboration BG, Author Collaboration PP, Callahan NC, Mahida S, Sveden A, Quinn M, Chopra M, Srivastava S, Wasserstein M, Chopra M, Sahin M, Wangler M, Schultz B, Izumi K, Gropman A, Smith-Hicks C, Abbeduto L, Hazlett H, German K, DaWalt L, Neul J, Constantino J, Gurnett C, Baldridge D, Srivastava S, Molholm S, Walkley S, Storch E, Samaco R, Cohen J, Shankar S, Piven J, Berger S, Mahida S, Sveden A, Dies K, Riggs ER, Savatt JM, Lanzotti V, Oh I, Gupta A, Minor B Clinical Genetics 2025 Sep 108 279-291 Clinical Characteristics of Patients With Kabuki Syndrome at a Single Tertiary Children's Hospital Dortenzio V, Barbaric L, Rosenfeld E, Dechene ET, Gilbert MA, Dulik MC, Rippert AL, Izumi K American Journal of Medical Genetics, Part A 2025 Jun 197 A common molecular mechanism underlying Cornelia de Lange and CHOPS syndromes Sakata T, Tei S, Izumi K, Krantz ID, Bando M, Shirahige K Current Biology 2025 Mar 35 1353-1363.e5 16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of ANKRD11 Cause KBG Syndrome Iwata-Otsubo A, Rippert AL, Balciuniene J, Fiordaliso SK, Chen R, Markose P, Skraban CM, Gray C, Zackai EH, Dubbs HA, Deardorff MA, Conlin LK, Izumi K Genes 2025 Feb 16 LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants Author Collaboration UD, Lu J, Toro C, Adams DR, Moreno CA, Lee WP, Leung YY, Harms MB, Vardarajan B, Heinzen EL, Acosta MT, Adam M, Izumi K, Alvarez RL, Alvey J, Amendola L, Andrews A, Ashley EA, Bacino CA, Bademci G, Balasubramanyam A, Baldridge D, Bale J, Bamshad M, Barbouth D, Bayrak-Toydemir P, Beck A, Beggs AH, Behrens E, Bejerano G, Bellen HJ, Bennett J, Berg-Rood B, Bernstein JA, Berry GT, Bican A, Bivona S, Blue E, Bohnsack J, Bonner D, Botto L, Boyd B, Briere LC, Brown G, Burke EA, Burrage LC, Butte MJ, Byers P, Byrd WE, Carey J, Carrasquillo O BMC Genomics 2024 Dec 25 Kagami Ogata syndrome: a small deletion refines critical region for imprinting Kilich G, Hassey K, Behrens EM, Falk M, Vanderver A, Rader DJ, Cahill PJ, Raper A, Zhang Z, Westerfer D, Jadhav T, Conlin L, Izumi K, Rajagopalan R, Sullivan KE npj Genomic Medicine 2024 Dec 9 Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children Fetta A, Toni F, Pettenuzzo I, Ricci E, Rocca A, Gambi C, Soliani L, Di Pisa V, Martini S, Sperti G, Cagnazzo V, Accorsi P, Bartolini E, Battaglia D, Bernardo P, Canevini MP, Ferrari AR, Giordano L, Locatelli C, Mancardi M, Orsini A, Pippucci T, Pruna D, Rosati A, Suppiej A, Tagliani S, Vaisfeld A, Vignoli A, Izumi K, Krantz I, Cordelli DM Orphanet Journal of Rare Diseases 2024 Dec 19 Results 1-10 of 131 1 2 3 4 5 Next Last Honors & Awards Distinguished Research Trainee Award at the Children's Hospital of Philadelphia (2013-2013) American Academy of Pediatrics, Resident Research Grant recipient (2009-2009) 21st Century Center of Excellence (COE) Program Research Associate Award (2005-2006) Fellowship award from Bo-shi Aiikukai Foundation (2005-2005) Medical Student Outstanding Research Award at Keio University School of Medicine (2001-2001)
