Daniel C Koboldt, MS
Contact Information
- Call us at: (614)722-0520
-
Institute for Genomic Medicine
700 Children's Drive
Columbus, OH 43205 (map)
Dan Koboldt is a Principal Investigator at the Institute for Genomic Medicine at Nationwide Children's Hospital, and a Research Assistant Professor of Pediatrics at The Ohio State University.
Previously, he worked as a staff scientist for the Genome Institute at Washington University, where he contributed to high-profile projects including the first cancer genome (AML1), the Cancer Genome Atlas, the 1,000 Genomes Project, and the Alzheimer's Disease Sequencing Project.
He is the developer of VarScan, a widely-used somatic mutation caller for next-generation sequencing data, and MendelScan, a variant prioritization and disease gene mapping tool for family-based sequencing studies of inherited disease.
At Nationwide Children’s, his group specializes in developing tools for the analysis and interpretation of next-generation sequencing data, particularly as applied to study rare genetic diseases in children.
Publications
- Showpnil IA, E Hernandez Gonzalez M, Ramadesikan S, Marhabaie M, Daley A, Dublin-Ryan L, Pastore MT, Gurusamy U, Hunter JM, Stone BS, Bartholomew DW, Manickam K, Miller AR, Wilson RK, Stottmann RW, Koboldt DC. Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes. NPJ Genom Med. 2024 Dec 18; 9: 66.
- Ramadesikan S, Showpnil IA, Marhabaie M, Daley A, Varga EA, Gurusamy U, Pastore MT, Sites ER, Manickam M, Bartholomew DW, Hunter JM, White P, Wilson RK, Stottmann RW, Koboldt DC. Expanding the phenotypic spectrum of CSNK2A1-associated Okur-Chung neurodevelopmental syndrome. HGG Adv. 2024 Nov 4; 6: 100379.
- Gong M, Li J, Qin Z, Machado Bressan Wilke MV, Liu Y, Li Q, Liu H, Liang C, Morales-Rosado JA, Cohen ASA, Hughes SS, Sullivan BR, Waddell V, van den Boogaard MH, van Jaarsveld RH, van Binsbergen E, van Gassen KL, Wang T, Hiatt SM, Amaral MD, Kelley WV, Zhao J, Feng W, Ren C, Yu Y, Boczek NJ, Ferber MJ, Lahner C, Elliott S, Ruan Y, Mignot C, Keren B, Xie H, Wang X, Popp B, Zweier C, Piard J, Coubes C, Mau-Them FT, Safraou H, Innes AM, Gauthier J, Michaud JL, Koboldt DC, Sylvie O, Willems M, Tan WH, Cogne B, Rieubland C, Braun D, McLean SD, Platzer K, Zacher P, Oppermann H, Evenepoel L, Blanc P, El Khattabi L, Haque N, Dsouza NR, Zimmermann MT, Urrutia R, Klee EW, Shen Y, Du H, Rappaport L, Liu CM, Chen X. MARK2 variants cause autism spectrum disorder via the downregulation of WNT/ß-catenin signaling pathway. Am J Hum Genet. 2024 Oct 11;
- Seaby EG, Godwin A, Meyer-Dilhet G, Clerc V, Grand X, Fletcher T, Monteiro L, Kerkhofs M, Carelli V, Palombo F, Seri M, Olivucci G, Grippa M, Ciaccio C, D'Arrigo S, Iascone M, Bermudez M, Fischer J, Di Donato N, Goesswein S, Leung ML, Koboldt DC, Myers C, Arnadottir GA, Stefansson K, Sulem P, Goldberg EM, Bruel AL, Tran Mau Them F, Willems M, Bjornsson HT, Hognason HB, Thorolfsdottir ET, Agolini E, Novelli A, Zampino G, Onesimo R, Lachlan K, Baralle D, Rehm HL, O'Donnell-Luria A, Courchet J, Guille M, Bourgeois CF, Ennis S. Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder. Brain. 2024 Oct 15;
- Stojkic I, Prince BT, Kuehn HS, Gil Silva AA, Varga EA, Rosenzweig SD, Ramadesikan S, Supinger R, Marhabaie M, Chang P, Mardis ER, Koboldt DC. A novel IKZF1 variant in a family with autosomal dominant CVID: A case for expanding exon coverage in inborn errors of immunity. Clin Immunol. 2024 Jul; 264: 110244.
- Paulet A, Bennett-Ness C, Ageorges F, Trost D, Green A, Goudie D, Jewell R, Kraatari-Tiri M, Piard J, Coubes C, Lam W, Lynch SA, Groeschel S, Ramond F, Fluss J, Fagerberg C, Brasch Andersen C, Varvagiannis K, Kleefstra T, Gérard B, Fradin M, Vitobello A, Tenconi R, Denommé-Pichon AS, Vincent-Devulder A, Haack T, Marsh JA, Laulund LW, Grimmel M, Riess A, de Boer E, Padilla-Lopez S, Bakhtiari S, Ostendorf A, Zweier C, Smol T, Willems M, Faivre L, Scala M, Striano P, Bagnasco I, Koboldt D, Iascone M, Suerink M, Kruer MC, Levy J, Verloes A, Abbott CM, Ruaud L. Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study. Eur J Hum Genet. 2024 Apr 3;
- Olayiwola JO, Marhabaie M, Koboldt D, Matthews T, Siemon A, Mouhlas D, Porter T, Kyle G, Myers C, Mei H, Hou YC, Babcock M, Hunter J, Schieffer KM, Akkari Y, Reshmi S, Cottrell C, Mathew MT, Leung ML. Clinically significant findings in a decade-long retrospective study of prenatal chromosomal microarray testing. Mol Genet Genomic Med. 2024 Mar; 12: e2349.
- Bhat S, Rousseau J, Michaud C, Lourenço CM, Stoler JM, Louie RJ, Clarkson LK, Lichty A, Koboldt DC, Reshmi SC, Sisodiya SM, Hoytema van Konijnenburg EMM, Koop K, van Hasselt PM, Démurger F, Dubourg C, Sullivan BR, Hughes SS, Thiffault I, Tremblay ES, Accogli A, Srour M, Blunck R, Campeau PM. Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation. Am J Hum Genet. 2024 Mar 13;
- Paulet A, Bennett-Ness C, Ageorges F, Trost D, Green A, Goudie D, Jewell R, Kraatari-Tiri M, Piard J, Coubes C, Lam W, Lynch SA, Groeschel S, Ramond F, Fluss J, Fagerberg C, Brasch Andersen C, Varvagiannis K, Kleefstra T, Gérard B, Fradin M, Vitobello A, Tenconi R, Denommé-Pichon AS, Vincent-Devulder A, Haack T, Marsh JA, Laulund LW, Grimmel M, Riess A, de Boer E, Padilla-Lopez S, Bakhtiari S, Ostendorf A, Zweier C, Smol T, Willems M, Faivre L, Scala M, Striano P, Bagnasco I, Koboldt D, Iascone M, Suerink M, Kruer MC, Levy J, Verloes A, Abbott CM, Ruaud L. Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study. Eur J Hum Genet. 2024 Feb 15;
- Miller KE, Rivaldi AC, Shinagawa N, Sran S, Navarro JB, Westfall JJ, Miller AR, Roberts RD, Akkari Y, Supinger R, Hester ME, Marhabaie M, Gade M, Lu J, Rodziyevska O, Bhattacharjee MB, Von Allmen GK, Yang E, Lidov HGW, Harini C, Shah MN, Leonard J, Pindrik J, Shaikhouni A, Goldman JE, Pierson CR, Thomas DL, Boué DR, Ostendorf AP, Mardis ER, Poduri A, Koboldt DC, Heinzen EL, Bedrosian TA. Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy. Nat Genet. 2023 Nov; 55: 1920-1928.
- Ramadesikan S, Colwell CM, Supinger R, Hunter J, Thomas J, Varga E, Mardis ER, Wood RJ, Koboldt DC. Novel inherited CDX2 variant segregating in a family with diverse congenital malformations of the genitourinary system. Cold Spring Harb Mol Case Stud. 2023 Nov 22;
- Kuroda Y, Iwata-Otsubo A, Dias KR, Temple SEL, Nagao K, De Hayr L, Zhu Y, Isobe SY, Nishibuchi G, Fiordaliso SK, Fujita Y, Rippert AL, Baker SW, Leung ML, Koboldt DC, Harman A, Keena BA, Kazama I, Subramanian GM, Manickam K, Schmalz B, Latsko M, Zackai EH, Edwards M, Evans CA, Dulik MC, Buckley MF, Yamashita T, O'Brien WT, Harvey RJ, Obuse C, Roscioli T, Izumi K. Dominant-negative variants in CBX1 cause a neurodevelopmental disorder. Genet Med. 2023 Apr 20; 100861.
- Townsend SE, Westfall JJ, Navarro JB, Koboldt DC, Mardis ER, Miller KE, Bedrosian TA. Single-nuclei transcriptomics enable detection of somatic variants in patient brain tissue. Sci Rep. 2023 Jan 11; 13: 527.
- Gurusamy U, Ramadesikan S, Marhabaie M, Colwell CM, Hunter JM, Leung ML, Mardis ER, White P, Manickam M, Wilson RK, Koboldt DC. Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria mitochondrial disorder: case report and literature review. Front Genet. 2023; 14: 1298574.
- Westfall JJ, Schwind WN, Sran S, Navarro JB, Leonard J, Pindrik JA, Pierson CR, Boué DR, Koboldt DC, Ostendorf AP, Wilson RK, Mardis ER, Miller KE, Bedrosian TA. Molecular and spatial heterogeneity of microglia in Rasmussen encephalitis. Acta Neuropathol Commun. 2022 Nov 21; 10: 168.
- Maia N, Ibarluzea N, Misra-Isrie M, Koboldt DC, Marques I, Soares G, Santos R, Marcelis CLM, Keski-Filppula R, Guitart M, Gabau Vila E, Lehman A, Hickey S, Mori M, Terhal P, Valenzuela I, Lasa-Aranzasti A, Cueto-González AM, Chhouk BH, Yeh RC, Neil JE, Abu-Libde B, Kleefstra T, Elting MW, Császár A, Kárteszi J, Bessenyei B, van Bokhoven H, Jorge P, van Hagen JM, de Brouwer APM. Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes. Am J Med Genet A. 2022 Oct 22;
- Carroll J, Pabst L, Koboldt DC, Franklin SJ, Choi S, Wilson RK, Lo W. Novel Presentation of Hemiplegic Migraine in a Patient With Cockayne Syndrome. Pediatr Neurol. 2022 Oct 28; 138: 95-97.
- Bedrosian TA, Miller KE, Grischow OE, Schieffer KM, LaHaye S, Yoon H, Miller AR, Navarro J, Westfall J, Leraas K, Choi S, Williamson R, Fitch J, Kelly BJ, White P, Lee K, McGrath S, Cottrell CE, Magrini V, Leonard J, Pindrik J, Shaikhouni A, Boué DR, Thomas DL, Pierson CR, Wilson RK, Ostendorf AP, Mardis ER, Koboldt DC. Detection of brain somatic variation in epilepsy-associated developmental lesions. Epilepsia. 2022 Aug; 63: 1981-1997.
- Fair SR, Schwind W, Julian D, Biel A, Guo G, Rutherford R, Ramadesikan S, Westfall J, Miller KE, Kararoudi MN, Hickey SE, Mosher TM, McBride KL, Neinast R, Fitch J, Lee D, White P, Wilson RK, Bedrosian TA, Koboldt DC, Hester ME. Cerebral organoids containing an AUTS2 missense variant model microcephaly. Brain. 2022 Jul 8;
- De Faria FW, Schieffer KM, Pierson CR, Boue DR, LaHaye S, Miller KE, Amayiri N, Koboldt DC, Lichtenberg T, Leraas K, Brennan P, Kelly B, White P, Magrini V, Wilson RK, Mardis ER, Cottrell CE, Rusin J, Finlay JL, Osorio DS. Infantile metastatic ependymoma with a novel molecular profile and favorable outcome to intensive chemotherapy without irradiation: Case-based review. Genes Chromosomes Cancer. 2022 Jun 18;
- Latsko MS, Koboldt DC, Franklin SJ, Hickey SE, Williamson RK, Garner S, Ostendorf AP, Lee K, White P, Wilson RK. De novo missense mutation in GRIA2 in a patient with global developmental delay, autism spectrum disorder, and epileptic encephalopathy. Cold Spring Harb Mol Case Stud. 2022 May 9;
- Lecerf K, Koboldt DC, Kuehn HS, Jayaraman V, Lee K, Mihalic Mosher T, Yonkof JR, Mori M, Hickey SE, Franklin S, Drew J, Akoghlanian S, Sivaraman V, Rosenzweig SD, Wilson RK, Abraham RS. Case Report And Review Of The Literature: Immune Dysregulation In A Large Familial Cohort Due To A Novel Pathogenic RELA Variant. Rheumatology (Oxford). 2022 Apr 12;
- Yang JH, Friederich MW, Ellsworth KA, Frederick A, Foreman E, Malicki D, Dimmock D, Lenberg J, Prasad C, Yu AC, Anthony Rupar C, Hegele RA, Manickam K, Koboldt DC, Crist E, Choi SS, Farhan SMK, Harvey H, Sattar S, Karp N, Wong T, Haas R, Van Hove JLK, Wigby K. Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymes. Hum Mutat. 2022 Mar; 43: 305-315.
- Rahimi MJ, Urban N, Wegler M, Sticht H, Schaefer M, Popp B, Gaunitz F, Morleo M, Nigro V, Maitz S, Mancini GMS, Ruivenkamp C, Suk EK, Bartolomaeus T, Merkenschlager A, Koboldt D, Bartholomew D, Stegmann APA, Sinnema M, Duynisveld I, Salvarinova R, Race S, de Vries BBA, Trimouille A, Naudion S, Marom D, Hamiel U, Henig N, Demurger F, Rahner N, Bartels E, Hamm JA, Putnam AM, Person R, Abou Jamra R, Oppermann H. De novo variants in ATP2B1 lead to neurodevelopmental delay. Am J Hum Genet. 2022 Mar 25;
- Hunter JM, Massingham LJ, Manickam K, Bartholomew D, Williamson RK, Schwab JL, Marhabaie M, Siemon A, de Los Reyes E, Reshmi SC, Cottrell CE, Wilson RK, Koboldt DC. Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder. Cold Spring Harb Mol Case Stud. 2022 Feb; 8:
- Ramadesikan S, Hickey SE, De Los Reyes E, Patel AD, Franklin SJ, Brennan P, Crist E, Lee K, White P, McBride KL, Koboldt DC, Wilson RK. Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease. Cold Spring Harb Mol Case Stud. 2022 Jan 28;
- Miller KE, Wheeler G, LaHaye S, Schieffer KM, Cearlock S, Venkata LPR, Bravo AO, Grischow OE, Kelly BJ, White P, Pierson CR, Boué DR, Koo SC, Klawinski D, Ranalli MA, Shaikhouni A, Salloum R, Shatara M, Leonard JR, Wilson RK, Cottrell CE, Mardis ER, Koboldt DC. Molecular Heterogeneity in Pediatric Malignant Rhabdoid Tumors in Patients With Multi-Organ Involvement. Front Oncol. 2022; 12: 932337.
- Ciolfi A, Caputo V, Koboldt DC, Uva P. Editorial: From Sequence to Functional Interpretation: Sifting Through the Variation of Genomic Data. Front Genet. 2022; 13: 932299.
- LaHaye S, Fitch JR, Voytovich KJ, Herman AC, Kelly BJ, Lammi GE, Arbesfeld JA, Wijeratne S, Franklin SJ, Schieffer KM, Bir N, McGrath SD, Miller AR, Wetzel A, Miller KE, Bedrosian TA, Leraas K, Varga EA, Lee K, Gupta A, Setty B, Boué DR, Leonard JR, Finlay JL, Abdelbaki MS, Osorio DS, Koo SC, Koboldt DC, Wagner AH, Eisfeld AK, Mrózek K, Magrini V, Cottrell CE, Mardis ER, Wilson RK, White P. Discovery of clinically relevant fusions in pediatric cancer. BMC Genomics. 2021 Dec 4; 22: 872.
- Melas M, Kautto EA, Franklin SJ, Mori M, McBride KL, Mosher TM, Pfau RB, Hernandez-Gonzalez ME, McGrath SD, Magrini VJ, White P, Samora JB, Koboldt DC, Wilson RK. Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly. Hum Mutat. 2021 Dec 2;
- Marhabaie M, Hickey SE, Miller K, Grischow O, Schieffer KM, Franklin SJ, Gordon DM, Choi S, Mihalic Mosher T, White P, Koboldt DC, Wilson RK. Maternal mosaicism for a missense variant in the SMS gene that causes Snyder-Robinson syndrome. Cold Spring Harb Mol Case Stud. 2021 Dec; 7:
- Nolan DK, Chaudhari B, Franklin SJ, Wijeratne S, Pfau R, Mihalic Mosher T, Crist E, McBride KL, White P, Wilson RK, Hickey SE, Koboldt DC. Hypomorphic alleles pose challenges in rare disease genomic variant interpretation. Clin Genet. 2021 Dec; 100: 775-776.
- Weerts MJA, Lanko K, Guzmán-Vega FJ, Jackson A, Ramakrishnan R, Cardona-Londoño KJ, Peña-Guerra KA, van Bever Y, van Paassen BW, Kievit A, van Slegtenhorst M, Allen NM, Kehoe CM, Robinson HK, Pang L, Banu SH, Zaman M, Efthymiou S, Houlden H, Järvelä I, Lauronen L, Määttä T, Schrauwen I, Leal SM, Ruivenkamp CAL, Barge-Schaapveld DQCM, Peeters-Scholte CMPCD, Galehdari H, Mazaheri N, Sisodiya SM, Harrison V, Sun A, Thies J, Pedroza LA, Lara-Taranchenko Y, Chinn IK, Lupski JR, Garza-Flores A, McGlothlin J, Yang L, Huang S, Wang X, Jewett T, Rosso G, Lin X, Mohammed S, Merritt JL 2nd, Mirzaa GM, Timms AE, Scheck J, Elting MW, Polstra AM, Schenck L, Ruzhnikov MRZ, Vetro A, Montomoli M, Guerrini R, Koboldt DC, Mosher TM, Pastore MT, McBride KL, Peng J, Pan Z, Willemsen M, Koning S, Turnpenny PD, de Vries BBA, Gilissen C, Pfundt R, Lees M, Braddock SR, Klemp KC, Vansenne F, van Gijn ME, Quindipan C, Deardorff MA, Hamm JA, Putnam AM, Baud R, Walsh L, Lynch SA, Baptista J, Person RE, Monaghan KG, Crunk A, Keller-Ramey J, Reich A, Elloumi HZ, Alders M, Kerkhof J, McConkey H, Haghshenas S, Genomics England Research Consortium., Maroofian R, Sadikovic B, Banka S, Arold ST, Barakat TS. Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. Genet Med. 2021 Nov; 23: 2122-2137.
- Koboldt DC, Miller KE, Miller AR, Bush JM, McGrath S, Leraas K, Crist E, Fair S, Schwind W, Wijeratne S, Fitch J, Leonard J, Shaikhouni A, Hester ME, Magrini V, Ho ML, Pierson CR, Wilson RK, Ostendorf AP, Mardis ER, Bedrosian TA. PTEN somatic mutations contribute to spectrum of cerebral overgrowth. Brain. 2021 May 28;
- Schieffer KM, Feldman AZ, Kautto EA, McGrath S, Miller AR, Hernandez-Gonzalez ME, LaHaye S, Miller KE, Koboldt DC, Brennan P, Kelly B, Wetzel A, Agarwal V, Shatara M, Conley S, Rodriguez DP, Abu-Arja R, Shaikhkhalil A, Snuderl M, Orr BA, Finlay JL, Osorio DS, Drapeau AI, Leonard JR, Pierson CR, White P, Magrini V, Mardis ER, Wilson RK, Cottrell CE, Boué DR. Molecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma. Acta Neuropathol Commun. 2021 Apr 7; 9: 61.
- Schieffer KM, Agarwal V, LaHaye S, Miller KE, Koboldt DC, Lichtenberg T, Leraas K, Brennan P, Kelly BJ, Crist E, Rusin J, Finlay JL, Osorio DS, Sribnick EA, Leonard JR, Feldman A, Orr BA, Serrano J, Vasudevaraja V, Snuderl M, White P, Magrini V, Wilson RK, Mardis ER, Boué DR, Cottrell CE. YAP1-FAM118B Fusion Defines a Rare Subset of Childhood and Young Adulthood Meningiomas. Am J Surg Pathol. 2021 Mar 1; 45: 329-340.
- Prasad RN, Gardner UG, Yaney A, Prevedello DM, Koboldt DC, Thomas DL, Mardis ER, Palmer JD. Germline BAP1 Mutation in a Family With Multi-Generational Meningioma With Rhabdoid Features: A Case Series and Literature Review. Front Oncol. 2021; 11: 721712.
- Franklin AD, Chaudhari BP, Koboldt DC, Machut KZ. Polymerase Gamma Mitochondrial DNA Depletion Syndrome Initially Presenting as Disproportionate Respiratory Distress in a Moderately Premature Neonate: A Case Report. Front Genet. 2021; 12: 664278.
- Morgan A, Koboldt DC, Barrie ES, Crist ER, García García G, Mezzavilla M, Faletra F, Mihalic Mosher T, Wilson RK, Blanchet C, Manickam K, Roux AF, Gasparini P, Dell'Orco D, Girotto G. Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss. Hum Mutat. 2019 Dec; 40: 2286-2295.
- Wang Y, Liyanarachchi S, Miller KE, Nieminen TT, Comiskey DF Jr, Li W, Brock P, Symer DE, Akagi K, DeLap KE, He H, Koboldt DC, de la Chapelle A. Identification of Rare Variants Predisposing to Thyroid Cancer. Thyroid. 2019 Jul; 29: 946-955.
- Locke AE, Steinberg KM, Chiang CWK, Service SK, Havulinna AS, Stell L, Pirinen M, Abel HJ, Chiang CC, Fulton RS, Jackson AU, Kang CJ, Kanchi KL, Koboldt DC, Larson DE, Nelson J, Nicholas TJ, Pietilä A, Ramensky V, Ray D, Scott LJ, Stringham HM, Vangipurapu J, Welch R, Yajnik P, Yin X, Eriksson JG, Ala-Korpela M, Järvelin MR, Männikkö M, Laivuori H, FinnGen Project., Dutcher SK, Stitziel NO, Wilson RK, Hall IM, Sabatti C, Palotie A, Salomaa V, Laakso M, Ripatti S, Boehnke M, Freimer NB. Exome sequencing of Finnish isolates enhances rare-variant association power. Nature. 2019 Jul 31;
- Mihalic Mosher T, Zygmunt DA, Koboldt DC, Kelly BJ, Johnson LR, McKenna DS, Hood BC, Hickey SE, White P, Wilson RK, Martin PT, McBride KL. Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia. Eur J Hum Genet. 2019 Jul 5;
- Schieffer KM, Varga E, Miller KE, Agarwal V, Koboldt DC, Brennan P, Kelly B, Dave-Wala A, Pierson CR, Finlay JL, AbdelBaki MS, White P, Magrini V, Wilson RK, Mardis ER, Cottrell CE. Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma. Eur J Med Genet. 2019 Jun 10; 103701.
- Johnson BV, Kumar R, Oishi S, Alexander S, Kasherman M, Vega MS, Ivancevic A, Gardner A, Domingo D, Corbett M, Parnell E, Yoon S, Oh T, Lines M, Lefroy H, Kini U, Van Allen M, Grønborg S, Mercier S, Küry S, Bézieau S, Pasquier L, Raynaud M, Afenjar A, Billette de Villemeur T, Keren B, Désir J, Van Maldergem L, Marangoni M, Dikow N, Koolen DA, VanHasselt PM, Weiss M, Zwijnenburg P, Sa J, Reis CF, López-Otín C, Santiago-Fernández O, Fernández-Jaén A, Rauch A, Steindl K, Joset P, Goldstein A, Madan-Khetarpal S, Infante E, Zackai E, Mcdougall C, Narayanan V, Ramsey K, Mercimek-Andrews S, Pena L, Shashi V, Undiagnosed Diseases Network., Schoch K, Sullivan JA, Pinto E Vairo F, Pichurin PN, Ewing SA, Barnett SS, Klee EW, Perry MS, Koenig MK, Keegan CE, Schuette JL, Asher S, Perilla-Young Y, Smith LD, Rosenfeld JA, Bhoj E, Kaplan P, Li D, Oegema R, van Binsbergen E, van der Zwaag B, Smeland MF, Cutcutache I, Page M, Armstrong M, Lin AE, Steeves MA, Hollander ND, Hoffer MJV, Reijnders MRF, Demirdas S, Koboldt DC, Bartholomew D, Mosher TM, Hickey SE, Shieh C, Sanchez-Lara PA, Graham JM Jr, Tezcan K, Schaefer GB, Danylchuk NR, Asamoah A, Jackson KE, Yachelevich N, Au M, Pérez-Jurado LA, Kleefstra T, Penzes P, Wood SA, Burne T, Pierson TM, Piper M, Gécz J, Jolly LA. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor ß Signaling. Biol Psychiatry. 2019 Jun 29;
Date of Appointment at Nationwide Children’s Hospital: 08/01/2016
Graduate School | Washington University in St. Louis | Date Completed: 05/01/2007 |
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Undergraduate School | University of Missouri | Date Completed: 12/30/2001 |
Institute for Genomic Medicine
- Call us at: (614)722-0520
-
700 Children's Drive
Columbus, OH 43205 (map)