Kosuke Izumi, M.D., Ph.D.

Pediatrics - Genetics and Metabolism

Education & Training

Residency - Children's Hospital of Philadelphia (2010-2012), Pediatrics & Medical Genetics
Residency - Case Western Reserve University/University Hospitals Case Medical Center (2007-2010), Pediatrics
Other Post Graduate Training - Keio University Graduate School of Medicine/Tokyo (2004-2008)
Medical School - Keio University School of Medicine/Tokyo (1997-2003)

Books & Publications

Publications
- Retrospective identification of patients with SRRM2-related neurodevelopmental disorder in a single tertiary children's hospital.
  Regan-Fendt KE, Rippert AL, Medne L, Skraban CM, DeJesse J, Gray C, Reichert SL, Staropoli NP, Santos FJR, Krantz ID, Murrell JR, Izumi K, American journal of medical genetics. Part A 2023 Aug 191 8 2149-2155
- Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
  Kaur M, Blair J, Devkota B, Fortunato S, Clark D, Lawrence A, Kim J, Do W, Semeo B, Katz O, Mehta D, Yamamoto N, Schindler E, Al Rawi Z, Wallace N, Wilde JJ, McCallum J, Liu J, Xu D, Jackson M, Rentas S, Tayoun AA, Zhe Z, Abdul-Rahman O, Allen B, Angula MA, Anyane-Yeboa K, Argente J, Arn PH, Armstrong L, Basel-Salmon L, Baynam G, Bird LM, Bruegger D, Ch'ng GS, Chitayat D, Clark R, Cox GF, Dave U, DeBaere E, Field M, Graham JM, Gripp KW, Greenstein R, Gupta N, Heidenreich R, Hoffman J, Hopkin RJ, Jones KL, Jones MC, Kariminejad A, Kogan J, Lace B, Leroy J, Lynch SA, McDonald M, Meagher K, Mendelsohn N, Micule I, Moeschler J, Nampoothiri S, Ohashi K, Powell CM, Ramanathan S, Raskin S, Roeder E, Rio M, Rope AF, Sangha K, Scheuerle AE, Schneider A, Shalev S, Siu V, Smith R, Stevens C, Tkemaladze T, Toimie J, Toriello H, Turner A, Wheeler PG, White SM, Young T, Loomes KM, Pipan M, Harrington AT, Zackai E, Rajagopalan R, Conlin L, Deardorff MA, McEldrew D, Pie J, Ramos F, Musio A, Kline AD, Izumi K, Raible SE, Krantz ID, American journal of medical genetics. Part A 2023 Aug 191 8 2113-2131
- Dominant-negative variants in CBX1 cause a neurodevelopmental disorder.
  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, Genetics in medicine : official journal of the American College of Medical Genetics 2023 Jul 25 7 100861
- Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation.
  O'Neill AG, Burrell AL, Zech M, Elpeleg O, Harel T, Edvardson S, Mor-Shaked H, Rippert AL, Nomakuchi T, Izumi K, Kollman JM, The Journal of biological chemistry 2023 Jul 299 8 105012
- Unmasking the challenges of Kabuki syndrome in adulthood: A case series.
  Priestley JRC, Rippert AL, Condit C, Izumi K, Kallish S, Drivas TG, American journal of medical genetics. Part C, Seminars in medical genetics 2023 Jun 193 2 128-138
- Expansion of clinical and variant spectrum of EEF2-related neurodevelopmental disorder: Report of two additional cases.
  Guo R, Rippert AL, Cook EB, Alves CAP, Bird LM, Izumi K, American journal of medical genetics. Part A 2023 May
- Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease.
  Sharma M, Leung D, Momenilandi M, Jones LCW, Pacillo L, James AE, Murrell JR, Delafontaine S, Maimaris J, Vaseghi-Shanjani M, Del Bel KL, Lu HY, Chua GT, Di Cesare S, Fornes O, Liu Z, Di Matteo G, Fu MP, Amodio D, Tam IYS, Chan GSW, Sharma AA, Dalmann J, van der Lee R, Blanchard-Rohner G, Lin S, Philippot Q, Richmond PA, Lee JJ, Matthews A, Seear M, Turvey AK, Philips RL, Brown-Whitehorn TF, Gray CJ, Izumi K, Treat JR, Wood KH, Lack J, Khleborodova A, Niemela JE, Yang X, Liang R, Kui L, Wong CSM, Poon GWK, Hoischen A, van der Made CI, Yang J, Chan KW, Rosa Duque JSD, Lee PPW, Ho MHK, Chung BHY, Le HTM, Yang W, Rohani P, Fouladvand A, Rokni-Zadeh H, Changi-Ashtiani M, Miryounesi M, Puel A, Shahrooei M, Finocchi A, Rossi P, Rivalta B, Cifaldi C, Novelli A, Passarelli C, Arasi S, Bullens D, Sauer K, Claeys T, Biggs CM, Morris EC, Rosenzweig SD, O'Shea JJ, Wasserman WW, Bedford HM, van Karnebeek CDM, Palma P, Burns SO, Meyts I, Casanova JL, Lyons JJ, Parvaneh N, Nguyen ATV, Cancrini C, Heimall J, Ahmed H, McKinnon ML, Lau YL, Béziat V, Turvey SE, The Journal of experimental medicine 2023 May 220 5
- Expanding the reproductive organ phenotype of CHD7-spectrum disorder.
  Nomakuchi TT, Danowitz M, Stewart B, Leonard J, Izumi K, Krantz I, Kolon TF, Langdon D, Skraban C, Van Batavia J, Zackai E, Jiao K, Linn R, Alexander C, Zaontz M, Vogiatzi MG, Pyle LC, American journal of medical genetics. Part A 2023 May 191 5 1418-1424
- Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish.
  Patterson V, Ullah F, Bryant L, Griffin JN, Sidhu A, Saliganan S, Blaile M, Saenz MS, Smith R, Ellingwood S, Grange DK, Hu X, Mireguli M, Luo Y, Shen Y, Mulhern M, Zackai E, Ritter A, Izumi K, Hoefele J, Wagner M, Riedhammer KM, Seitz B, Robin NH, Goodloe D, Mignot C, Keren B, Cox H, Jarvis J, Hempel M, Gibson CF, Tran Mau-Them F, Vitobello A, Bruel AL, Sorlin A, Mehta S, Raymond FL, Gilmore K, Powell BC, Weck K, Li C, Vulto-van Silfhout AT, Giacomini T, Mancardi MM, Accogli A, Salpietro V, Zara F, Vora NL, Davis EE, Burdine R, Bhoj E, Science advances 2023 Apr 9 17 eade0631
- Nuclear speckleopathies: developmental disorders caused by variants in genes encoding nuclear speckle proteins.
  Regan-Fendt KE, Izumi K, Human genetics 2023 Mar
- Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
  Paul MS, Duncan AR, Genetti CA, Pan H, Jackson A, Grant PE, Shi J, Pinelli M, Brunetti-Pierri N, Garza-Flores A, Shahani D, Saneto RP, Zampino G, Leoni C, Agolini E, Novelli A, Blümlein U, Haack TB, Heinritz W, Matzker E, Alhaddad B, Abou Jamra R, Bartolomaeus T, AlHamdan S, Carapito R, Isidor B, Bahram S, Ritter A, Izumi K, Shakked BP, Barel O, Ben Zeev B, Begtrup A, Carere DA, Mullegama SV, Palculict TB, Calame DG, Schwan K, Aycinena ARP, Traberg R, Douzgou S, Pirt H, Ismayilova N, Banka S, Chao HT, Agrawal PB, American journal of human genetics 2023 Jan 110 1 120-145
- Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
  Kayumi S, Pérez-Jurado LA, Palomares M, Rangu S, Sheppard SE, Chung WK, Kruer MC, Kharbanda M, Amor DJ, McGillivray G, Cohen JS, García-Miñaúr S, van Eyk CL, Harper K, Jolly LA, Webber DL, Barnett CP, Santos-Simarro F, Pacio-Míguez M, Pozo AD, Bakhtiari S, Deardorff M, Dubbs HA, Izumi K, Grand K, Gray C, Mark PR, Bhoj EJ, Li D, Ortiz-Gonzalez XR, Keena B, Zackai EH, Goldberg EM, Perez de Nanclares G, Pereda A, Llano-Rivas I, Arroyo I, Fernández-Cuesta MÁ, Thauvin-Robinet C, Faivre L, Garde A, Mazel B, Bruel AL, Tress ML, Brilstra E, Fine AS, Crompton KE, Stegmann APA, Sinnema M, Stevens SCJ, Nicolai J, Lesca G, Lion-François L, Haye D, Chatron N, Piton A, Nizon M, Cogne B, Srivastava S, Bassetti J, Muss C, Gripp KW, Procopio RA, Millan F, Morrow MM, Assaf M, Moreno-De-Luca A, Joss S, Hamilton MJ, Bertoli M, Foulds N, McKee S, MacLennan AH, Gecz J, Corbett MA, Genetics in medicine : official journal of the American College of Medical Genetics 2022 Nov 24 11 2351-2366
- Mosaic RAI1 variant in a Smith-Magenis syndrome patient with total anomalous pulmonary venous return.
  Kuroda Y, Ritter A, Mullegama SV, Izumi K, American journal of medical genetics. Part A 2022 Oct 188 10 3130-3134
- MYH7 variants cause complex congenital heart disease.
  Ritter A, Leonard J, Gray C, Izumi K, Levinson K, Nair DR, O'Connor M, Rossano J, Shankar V, Chowns J, Marzolf A, Owens A, Ahrens-Nicklas RC, American journal of medical genetics. Part A 2022 Sep 188 9 2772-2776
- Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.
  Cuinat S, Nizon M, Isidor B, Stegmann A, van Jaarsveld RH, van Gassen KL, van der Smagt JJ, Volker-Touw CML, Holwerda SJB, Terhal PA, Schuhmann S, Vasileiou G, Khalifa M, Nugud AA, Yasaei H, Ousager LB, Brasch-Andersen C, Deb W, Besnard T, Simon MEH, Amsterdam KH, Verbeek NE, Matalon D, Dykzeul N, White S, Spiteri E, Devriendt K, Boogaerts A, Willemsen M, Brunner HG, Sinnema M, De Vries BBA, Gerkes EH, Pfundt R, Izumi K, Krantz ID, Xu ZL, Murrell JR, Valenzuela I, Cusco I, Rovira-Moreno E, Yang Y, Bizaoui V, Patat O, Faivre L, Tran-Mau-Them F, Vitobello A, Denommé-Pichon AS, Philippe C, Bezieau S, Cogné B, Genetics in medicine : official journal of the American College of Medical Genetics 2022 Aug 24 8 1774-1780
- Molecular Mechanisms Contributing to the Etiology of Congenital Diaphragmatic Hernia: A Review and Novel Cases.
  Katz OL, Wild KT, McEldrew D, Kaur M, Raible S, Skraban CM, Zackai EH, Medne L, Izumi K, Fortunato S, Weatherly J, Hartman T, Deppen P, Blair J, Devkota B, Schindler E, Hedrick HL, Peranteau W, Krantz ID, The Journal of pediatrics 2022 Jul 246 251-265.e2
- Expanding the phenotypic spectrum of ARCN1-related syndrome.
  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, Genetics in medicine : official journal of the American College of Medical Genetics 2022 Jun 24 6 1227-1237
- Inborn error of metabolism patients after liver transplantation: Outcomes of 35 patients over 27 years in one pediatric quaternary hospital.
  Pritchard AB, Izumi K, Payan-Walters I, Yudkoff M, Rand EB, Bhoj E, American journal of medical genetics. Part A 2022 May 188 5 1443-1447
- Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?
  Murrell JR, Nesbitt AMI, Baker SW, Pechter KB, Balciuniene J, Zhao X, Denenberg EH, DeChene ET, Wu C, Jayaraman P, Cao K, Gonzalez M, Devoto M, Testori A, Monos JD, Dulik MC, Conlin LK, Luo M, McDonald Gibson K, Guan Q, Sarmady M, Bhoj E, Helbig I, Zackai EH, Bedoukian EC, Wilkens A, Tarpinian J, Izumi K, Skraban CM, Deardorff MA, Medne L, Krantz ID, Krock BL, Santani AB, The Journal of molecular diagnostics : JMD 2022 Mar 24 3 274-286
- The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
  Kumble S, Levy AM, Punetha J, Gao H, Ah Mew N, Anyane-Yeboa K, Benke PJ, Berger SM, Bjerglund L, Campos-Xavier B, Ciliberto M, Cohen JS, Comi AM, Curry C, Damaj L, Denommé-Pichon AS, Emrick L, Faivre L, Fasano MB, Fiévet A, Finkel RS, García-Miñaúr S, Gerard A, Gomez-Puertas P, Guillen Sacoto MJ, Hoffman TL, Howard L, Iglesias AD, Izumi K, Larson A, Leiber A, Lozano R, Marcos-Alcalde I, Mintz CS, Mullegama SV, Møller RS, Odent S, Oppermann H, Ostergaard E, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Paulson AM, Platzer K, Posey JE, Potocki L, Revah-Politi A, Rio M, Ritter AL, Robinson S, Rosenfeld JA, Santos-Simarro F, Sousa SB, Wéber M, Xie Y, Chung WK, Brown NJ, Tümer Z, Human mutation 2022 Feb 43 2 266-282
- Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation.
  Polla DL, Edmondson AC, Duvet S, March ME, Sousa AB, Lehman A, Niyazov D, van Dijk F, Demirdas S, van Slegtenhorst MA, Kievit AJA, Schulz C, Armstrong L, Bi X, Rader DJ, Izumi K, Zackai EH, de Franco E, Jorge P, Huffels SC, Hommersom M, Ellard S, Lefeber DJ, Santani A, Hand NJ, van Bokhoven H, He M, de Brouwer APM, American journal of human genetics 2021 Jul 108 7 1342-1349
- Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
  Sheppard SE, Campbell IM, Harr MH, Gold N, Li D, Bjornsson HT, Cohen JS, Fahrner JA, Fatemi A, Harris JR, Nowak C, Stevens CA, Grand K, Au M, Graham JM, Sanchez-Lara PA, Campo MD, Jones MC, Abdul-Rahman O, Alkuraya FS, Bassetti JA, Bergstrom K, Bhoj E, Dugan S, Kaplan JD, Derar N, Gripp KW, Hauser N, Innes AM, Keena B, Kodra N, Miller R, Nelson B, Nowaczyk MJ, Rahbeeni Z, Ben-Shachar S, Shieh JT, Slavotinek A, Sobering AK, Abbott MA, Allain DC, Amlie-Wolf L, Au PYB, Bedoukian E, Beek G, Barry J, Berg J, Bernstein JA, Cytrynbaum C, Chung BH, Donoghue S, Dorrani N, Eaton A, Flores-Daboub JA, Dubbs H, Felix CA, Fong CT, Fung JLF, Gangaram B, Goldstein A, Greenberg R, Ha TK, Hersh J, Izumi K, Kallish S, Kravets E, Kwok PY, Jobling RK, Knight Johnson AE, Kushner J, Lee BH, Levin B, Lindstrom K, Manickam K, Mardach R, McCormick E, McLeod DR, Mentch FD, Minks K, Muraresku C, Nelson SF, Porazzi P, Pichurin PN, Powell-Hamilton NN, Powis Z, Ritter A, Rogers C, Rohena L, Ronspies C, Schroeder A, Stark Z, Starr L, Stoler J, Suwannarat P, Velinov M, Weksberg R, Wilnai Y, Zadeh N, Zand DJ, Falk MJ, Hakonarson H, Zackai EH, Quintero-Rivera F, American journal of medical genetics. Part A 2021 Jun 185 6 1649-1665
- JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.
  Verberne EA, Goh S, England J, van Ginkel M, Rafael-Croes L, Maas S, Polstra A, Zarate YA, Bosanko KA, Pechter KB, Bedoukian E, Izumi K, Chaudhry A, Robin NH, Boothe M, Lippa NC, Aggarwal V, De Vivo DC, Lehman A, Study C, Stockler S, Bruel AL, Isidor B, Lemons J, Rodriguez-Buritica DF, Richmond CM, Stark Z, Agrawal PB, Kooy RF, Meuwissen MEC, Koolen DA, Pfundt R, Lieden A, Anderlid BM, Glatz D, Mannens MMAM, Bakshi M, Mallette FA, van Haelst MM, Campeau PM, Genetics in medicine : official journal of the American College of Medical Genetics 2021 Feb 23 2 374-383
- Variants in NAA15 cause pediatric hypertrophic cardiomyopathy.
  Ritter A, Berger JH, Deardorff M, Izumi K, Lin KY, Medne L, Ahrens-Nicklas RC, American journal of medical genetics. Part A 2021 Jan 185 1 228-233
- EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients.
  Cohen JL, Schrier Vergano SA, Mazzola S, Strong A, Keena B, McDougall C, Ritter A, Li D, Bedoukian EC, Burke LW, Hoffman A, Zurcher V, Krantz ID, Izumi K, Bhoj E, Zackai EH, Deardorff MA, American journal of medical genetics. Part A 2020 Dec 182 12 2926-2938
- Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
  Zhang LX, Lemire G, Gonzaga-Jauregui C, Molidperee S, Galaz-Montoya C, Liu DS, Verloes A, Shillington AG, Izumi K, Ritter AL, Keena B, Zackai E, Li D, Bhoj E, Tarpinian JM, Bedoukian E, Kukolich MK, Innes AM, Ediae GU, Sawyer SL, Nair KM, Soumya PC, Subbaraman KR, Probst FJ, Bassetti JA, Sutton RV, Gibbs RA, Brown C, Boone PM, Holm IA, Tartaglia M, Ferrero GB, Niceta M, Dentici ML, Radio FC, Keren B, Wells CF, Coubes C, Laquerrière A, Aziza J, Dubucs C, Nampoothiri S, Mowat D, Patel MS, Bracho A, Cammarata-Scalisi F, Gezdirici A, Fernandez-Jaen A, Hauser N, Zarate YA, Bosanko KA, Dieterich K, Carey JC, Chong JX, Nickerson DA, Bamshad MJ, Lee BH, Yang XJ, Lupski JR, Campeau PM, Genetics in medicine : official journal of the American College of Medical Genetics 2020 Aug 22 8 1338-1347
- A Centralized Approach for Practicing Genomic Medicine.
  Biswas S, Medne L, Devkota B, Bedoukian E, Berrodin D, Izumi K, Deardorff MA, Tarpinian J, Leonard J, Pyle L, Gray C, Montgomery J, Williams T, Fortunato S, Weatherly J, McEldrew D, Kaur M, Raible SE, Wilkens A, Spinner NB, Skraban C, Krantz ID, Pediatrics 2020 Mar 145 3
- Clinical utility of exome sequencing in infantile heart failure.
  Ritter A, Bedoukian E, Berger JH, Copenheaver D, Gray C, Krantz I, Izumi K, Juusola J, Leonard J, Lin K, Medne L, Santani A, Skraban C, Yang S, Ahrens-Nicklas RC, Genetics in medicine : official journal of the American College of Medical Genetics 2020 Feb 22 2 423-426
- Interstitial 4q Deletion Syndrome Including NR3C2 Causing Pseudohypoaldosteronism.
  Barone Pritchard A, Ritter A, Kearney HM, Izumi K, Molecular syndromology 2020 Jan 10 6 327-331
- Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.
  Fiordaliso SK, Iwata-Otsubo A, Ritter AL, Quesnel-Vallières M, Fujiki K, Nishi E, Hancarova M, Miyake N, Morton JEV, Lee S, Hackmann K, Bando M, Masuda K, Nakato R, Arakawa M, Bhoj E, Li D, Hakonarson H, Takeda R, Harr M, Keena B, Zackai EH, Okamoto N, Mizuno S, Ko JM, Valachova A, Prchalova D, Vlckova M, Pippucci T, Seiler C, Choi M, Matsumoto N, Di Donato N, Barash Y, Sedlacek Z, Shirahige K, Izumi K, American journal of human genetics 2019 Nov 105 5 987-995
- De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.
  Snijders Blok L, Kleefstra T, Venselaar H, Maas S, Kroes HY, Lachmeijer AMA, van Gassen KLI, Firth HV, Tomkins S, Bodek S, Õunap K, Wojcik MH, Cunniff C, Bergstrom K, Powis Z, Tang S, Shinde DN, Au C, Iglesias AD, Izumi K, Leonard J, Abou Tayoun A, Baker SW, Tartaglia M, Niceta M, Dentici ML, Okamoto N, Miyake N, Matsumoto N, Vitobello A, Faivre L, Philippe C, Gilissen C, Wiel L, Pfundt R, Deriziotis P, Brunner HG, Fisher SE, American journal of human genetics 2019 Aug 105 2 403-412
- Clinical and molecular spectrum of CHOPS syndrome.
  Raible SE, Mehta D, Bettale C, Fiordaliso S, Kaur M, Medne L, Rio M, Haan E, White SM, Cusmano-Ozog K, Nishi E, Guo Y, Wu H, Shi X, Zhao Q, Zhang X, Lei Q, Lu A, He X, Okamoto N, Miyake N, Piccione J, Allen J, Matsumoto N, Pipan M, Krantz ID, Izumi K, American journal of medical genetics. Part A 2019 Jul 179 7 1126-1138
- Increased Clinical Sensitivity and Specificity of Plasma Protein N-Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation by Use of Flow Injection-Electrospray Ionization-Quadrupole Time-of-Flight Mass Spectrometry.
  Chen J, Li X, Edmondson A, Meyers GD, Izumi K, Ackermann AM, Morava E, Ficicioglu C, Bennett MJ, He M, Clinical chemistry 2019 May 65 5 653-663
- A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies.
  Nixon KCJ, Rousseau J, Stone MH, Sarikahya M, Ehresmann S, Mizuno S, Matsumoto N, Miyake N, Baralle D, McKee S, Izumi K, Ritter AL, Heide S, Héron D, Depienne C, Titheradge H, Kramer JM, Campeau PM, American journal of human genetics 2019 Apr 104 4 596-610
- Prenatal profile of Pallister-Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis.
  Salzano E, Raible SE, Kaur M, Wilkens A, Sperti G, Tilton RK, Bettini LR, Rocca A, Cocchi G, Selicorni A, Conlin LK, McEldrew D, Gupta R, Thakur S, Izumi K, Krantz ID, American journal of medical genetics. Part A 2018 Dec 176 12 2575-2586
- NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.
  Schanze I, Bunt J, Lim JWC, Schanze D, Dean RJ, Alders M, Blanchet P, Attié-Bitach T, Berland S, Boogert S, Boppudi S, Bridges CJ, Cho MT, Dobyns WB, Donnai D, Douglas J, Earl DL, Edwards TJ, Faivre L, Fregeau B, Genevieve D, Gérard M, Gatinois V, Holder-Espinasse M, Huth SF, Izumi K, Kerr B, Lacaze E, Lakeman P, Mahida S, Mirzaa GM, Morgan SM, Nowak C, Peeters H, Petit F, Pilz DT, Puechberty J, Reinstein E, Rivière JB, Santani AB, Schneider A, Sherr EH, Smith-Hicks C, Wieland I, Zackai E, Zhao X, Gronostajski RM, Zenker M, Richards LJ, American journal of human genetics 2018 Nov 103 5 752-768
- Variable Clinical Manifestations of Xia-Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital.
  Ritter AL, McDougall C, Skraban C, Medne L, Bedoukian EC, Asher SB, Balciuniene J, Campbell CD, Baker SW, Denenberg EH, Mazzola S, Fiordaliso SK, Krantz ID, Kaplan P, Ierardi-Curto L, Santani AB, Zackai EH, Izumi K, American journal of medical genetics. Part A 2018 Sep 176 9 1890-1896
- PCDH19-related epilepsy in a male with Klinefelter syndrome: Additional evidence supporting PCDH19 cellular interference disease mechanism.
  Romasko EJ, DeChene ET, Balciuniene J, Akgumus GT, Helbig I, Tarpinian JM, Keena BA, Vogiatzi MG, Zackai EH, Izumi K, Massey SL, Tayoun ANA, Epilepsy research 2018 Sep 145 89-92
- Cardiac Fibroma with Ventricular Tachycardia: An Unusual Clinical Presentation of Nevoid Basal Cell Carcinoma Syndrome.
  Ritter AL, Granquist EJ, Iyer VR, Izumi K, Molecular syndromology 2018 Jul 9 4 219-223
- De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies.
  Pinz H, Pyle LC, Li D, Izumi K, Skraban C, Tarpinian J, Braddock SR, Telegrafi A, Monaghan KG, Zackai E, Bhoj EJ, American journal of medical genetics. Part A 2018 Apr 176 4 969-972
- DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia.
  Iwata-Otsubo A, Ritter AL, Weckselbatt B, Ryan NR, Burgess D, Conlin LK, Izumi K, American journal of medical genetics. Part A 2018 Jan 176 1 241-245
- Exome sequencing-based identification of mutations in non-syndromic genes among individuals with apparently syndromic features.
  Nishi E, Masuda K, Arakawa M, Kawame H, Kosho T, Kitahara M, Kubota N, Hidaka E, Katoh Y, Shirahige K, Izumi K, American journal of medical genetics. Part A 2016 Nov 170 11 2889-2894
- Disorders of Transcriptional Regulation: An Emerging Category of Multiple Malformation Syndromes.
  Izumi K, Molecular syndromology 2016 Oct 7 5 262-273
- Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non-genetic factors.
  Izumi K, Hayashi D, Grochowski CM, Kubota N, Nishi E, Arakawa M, Hiroma T, Hatata T, Ogiso Y, Nakamura T, Falsey AM, Hidaka E, Spinner NB, American journal of medical genetics. Part A 2016 Feb 170A 2 471-475
- Fetal akinesia deformation sequence due to a congenital disorder of glycosylation.
  Ganetzky R, Izumi K, Edmondson A, Muraresku CC, Zackai E, Deardorff M, Ganesh J, American journal of medical genetics. Part A 2015 Oct 167A 10 2411-7
- The Deubiquitinating Enzyme USP7 Regulates Androgen Receptor Activity by Modulating Its Binding to Chromatin.
  Chen ST, Okada M, Nakato R, Izumi K, Bando M, Shirahige K, The Journal of biological chemistry 2015 Aug 290 35 21713-23
- Exome Sequencing Identification of EP300 Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome.
  Masuda K, Akiyama K, Arakawa M, Nishi E, Kitazawa N, Higuchi T, Katou Y, Shirahige K, Izumi K, Molecular syndromology 2015 Jul 6 2 99-103
- Elevation of insulin-like growth factor binding protein-2 level in Pallister-Killian syndrome: implications for the postnatal growth retardation phenotype.
  Izumi K, Kellogg E, Fujiki K, Kaur M, Tilton RK, Noon S, Wilkens A, Shirahige K, Krantz ID, American journal of medical genetics. Part A 2015 Jun 167 6 1268-74
- Dissecting the phenotype of supernumerary marker chromosome 20 in a patient with syndromic Pierre Robin sequence: combinatorial effect of gene dosage and uniparental disomy.
  Izumi K, Kubota N, Arakawa M, Takayama M, Harada Y, Nakamura T, Nishi E, Hidaka E, American journal of medical genetics. Part A 2015 Jun 167 6 1289-93
- Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.
  Izumi K, Nakato R, Zhang Z, Edmondson AC, Noon S, Dulik MC, Rajagopalan R, Venditti CP, Gripp K, Samanich J, Zackai EH, Deardorff MA, Clark D, Allen JL, Dorsett D, Misulovin Z, Komata M, Bando M, Kaur M, Katou Y, Shirahige K, Krantz ID Nature genetics 2015 Apr 47 4 338-44
- 12p microRNA expression in fibroblast cell lines from probands with Pallister-Killian syndrome.
  Izumi K, Zhang Z, Kaur M, Krantz ID, Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology 2014 Dec 22 4 453-61
- Pallister-Killian syndrome.
  Izumi K, Krantz ID, American journal of medical genetics. Part C, Seminars in medical genetics 2014 Dec 166C 4 406-13
- NKX2.5 mutation identification on exome sequencing in a patient with heterotaxy.
  Izumi K, Noon S, Wilkens A, Krantz ID, European journal of medical genetics 2014 Oct 57 10 558-61
- Cardiac manifestations of Pallister-Killian syndrome.
  Tilton RK, Wilkens A, Krantz ID, Izumi K, American journal of medical genetics. Part A 2014 May 164A 5 1130-5
- Genome-wide expression analysis in fibroblast cell lines from probands with Pallister Killian syndrome.
  Kaur M, Izumi K, Wilkens AB, Chatfield KC, Spinner NB, Conlin LK, Zhang Z, Krantz ID, PloS one 2014 9 10 e108853
- Congenital heart defects in oculodentodigital dysplasia: Report of two cases.
  Izumi K, Lippa AM, Wilkens A, Feret HA, McDonald-McGinn DM, Zackai EH, American journal of medical genetics. Part A 2013 Dec 161A 12 3150-4
- Endocrine phenotype of 6q16.1-q21 deletion involving SIM1 and Prader-Willi syndrome-like features.
  Izumi K, Housam R, Kapadia C, Stallings VA, Medne L, Shaikh TH, Kublaoui BM, Zackai EH, Grimberg A, American journal of medical genetics. Part A 2013 Dec 161A 12 3137-43
- Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy.
  Kalish JM, Conlin LK, Bhatti TR, Dubbs HA, Harris MC, Izumi K, Mostoufi-Moab S, Mulchandani S, Saitta S, States LJ, Swarr DT, Wilkens AB, Zackai EH, Zelley K, Bartolomei MS, Nichols KE, Palladino AA, Spinner NB, Deardorff MA, American journal of medical genetics. Part A 2013 Aug 161A 8 1929-39
- Novel MBTPS2 missense mutation in the N-terminus transmembrane domain in a patient with ichthyosis follicularis, alopecia, and photophobia syndrome.
  Izumi K, Wilkens A, Treat JR, Pride HB, Krantz ID, Pediatric dermatology 2013 30 6 e263-4
- Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array.
  Izumi K, Santani AB, Deardorff MA, Feret HA, Tischler T, Thiel BD, Mulchandani S, Stolle CA, Spinner NB, Zackai EH, Conlin LK, American journal of medical genetics. Part A 2013 Jan 161A 1 166-71
- Novel clinical manifestations in Pallister-Killian syndrome: comprehensive evaluation of 59 affected individuals and review of previously reported cases.
  Wilkens A, Liu H, Park K, Campbell LB, Jackson M, Kostanecka A, Pipan M, Izumi K, Pallister P, Krantz ID, American journal of medical genetics. Part A 2012 Dec 158A 12 3002-17
- Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome.
  Conlin LK, Kaur M, Izumi K, Campbell L, Wilkens A, Clark D, Deardorff MA, Zackai EH, Pallister P, Hakonarson H, Spinner NB, Krantz ID, American journal of medical genetics. Part A 2012 Dec 158A 12 3046-53
- Duplication 12p and Pallister-Killian syndrome: a case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region.
  Izumi K, Conlin LK, Berrodin D, Fincher C, Wilkens A, Haldeman-Englert C, Saitta SC, Zackai EH, Spinner NB, Krantz ID, American journal of medical genetics. Part A 2012 Dec 158A 12 3033-45
- 1.9 Mb microdeletion of 21q22.11 within Braddock-Carey contiguous gene deletion syndrome region: dissecting the phenotype.
  Izumi K, Brooks SS, Feret HA, Zackai EH, American journal of medical genetics. Part A 2012 Jul 158A 7 1535-41
- Underlying genetic diagnosis of Pierre Robin sequence: retrospective chart review at two children's hospitals and a systematic literature review.
  Izumi K, Konczal LL, Mitchell AL, Jones MC, The Journal of pediatrics 2012 Apr 160 4 645-650.e2
- 8p21 microdeletion in a patient with intellectual disability and behavioral abnormalities.
  Izumi K, Mikesell H, Daber R, Chao G, Hutchinson AL, Spinner NB, Parikh AS, American journal of medical genetics. Part A 2011 Dec 155A 12 3148-52
- Familial 9q22.3 microduplication spanning PTCH1 causes short stature syndrome with mild intellectual disability and dysmorphic features.
  Izumi K, Hahn A, Christ L, Curtis C, Neilson DE, American journal of medical genetics. Part A 2011 Jun 155A 6 1384-9
- Late manifestations of tricho-rhino-pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood.
  Izumi K, Takagi M, Parikh AS, Hahn A, Miskovsky SN, Nishimura G, Torii C, Kosaki K, Hasegawa T, Neilson DE, American journal of medical genetics. Part A 2010 Aug 152A 8 2115-9
- Interstitial microdeletion of 4p16.3: contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf-Hirschhorn syndrome.
  Izumi K, Okuno H, Maeyama K, Sato S, Yamamoto T, Torii C, Kosaki R, Takahashi T, Kosaki K, American journal of medical genetics. Part A 2010 Apr 152A 4 1028-32
- Diagnosis of Russell-Silver syndrome by the combined bisulfite restriction analysis-denaturing high-performance liquid chromatography assay.
  Hattori M, Torii C, Yagihashi T, Izumi K, Suda N, Ohyama K, Takahashi T, Moriyama K, Kosaki K, Genetic testing and molecular biomarkers 2009 Oct 13 5 623-30
- Caudal regression and tracheoesophageal malformation induced by adriamycin: a novel chick model of VATER association.
  Naito Y, Kimura T, Aramaki M, Izumi K, Okada Y, Suzuki H, Takahashi T, Kosaki K, Pediatric research 2009 Jun 65 6 607-12
- Case report: Adult phenotype of Mulvihill-Smith syndrome.
  Yagihashi T, Kato M, Izumi K, Kosaki R, Yago K, Tsubota K, Sato Y, Okubo M, Watanabe G, Takahashi T, Kosaki K, American journal of medical genetics. Part A 2009 Mar 149A 3 496-500
- Neocentromere marker chromosome of distal 3q mimicking dup(3q) syndrome phenotype.
  Izumi K, Yamashita Y, Aramaki M, Kosaki R, Hosokai N, Takahashi T, Kosaki K, American journal of medical genetics. Part A 2008 Aug 146A 15 1967-71
- Two distinctive mechanisms leading to disruption of the SHOX transcription unit in a single family.
  Izumi K, Nakano M, Kosaki K, Kosaki R, Hosogai N, Matsumoto H, Hasegawa T, Takahashi T, Kosaki K, American journal of medical genetics. Part A 2007 Dec 143A 23 2838-42
- Identification of a prosencephalic-specific enhancer of SALL1: comparative genomic approach using the chick embryo.
  Izumi K, Aramaki M, Kimura T, Naito Y, Udaka T, Uchikawa M, Kondoh H, Suzuki H, Cho G, Okada Y, Takahashi T, Golden JA, Kosaki K, Pediatric research 2007 Jun 61 6 660-5
- Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome.
  Kosaki R, Fujimaru R, Samejima H, Yamada H, Izumi K, Iijima K, Kosaki K, American journal of medical genetics. Part A 2007 May 143A 10 1087-90
- Partial deletion of LIS1: a pitfall in molecular diagnosis of Miller-Dieker syndrome.
  Izumi K, Kuratsuji G, Ikeda K, Takahashi T, Kosaki K, Pediatric neurology 2007 Apr 36 4 258-60
- EFNB1 mutation at the ephrin ligand-receptor dimerization interface in a patient with craniofrontonasal syndrome.
  Torii C, Izumi K, Nakajima H, Takahashi T, Kosaki K, Congenital anomalies 2007 Mar 47 1 49-52
- Screening for Alagille syndrome mutations in the JAG1 and NOTCH2 genes using denaturing high-performance liquid chromatography.
  Samejima H, Torii C, Kosaki R, Kurosawa K, Yoshihashi H, Muroya K, Okamoto N, Watanabe Y, Kosho T, Kubota M, Matsuda O, Goto M, Izumi K, Takahashi T, Kosaki K, Genetic testing 2007 11 3 216-27
- Multiplex PCR/liquid chromatography assay for screening of subtelomeric rearrangements.
  Udaka T, Imoto I, Aizu Y, Torii C, Izumi K, Kosaki R, Takahashi T, Hayashi S, Inazawa J, Kosaki K, Genetic testing 2007 11 3 241-8
- Paternal gonadal mosaicism of NIPBL mutation in a father of siblings with Cornelia de Lange syndrome.
  Niu DM, Huang JY, Li HY, Liu KM, Wang ST, Chen YJ, Udaka T, Izumi K, Kosaki K, Prenatal diagnosis 2006 Nov 26 11 1054-7
- Cleidocranial dysplasia plus vascular anomalies with 6p21.2 microdeletion spanning RUNX2 and VEGF.
  Izumi K, Yahagi N, Fujii Y, Higuchi M, Kosaki R, Naito Y, Nishimura G, Hosokai N, Takahashi T, Kosaki K, American journal of medical genetics. Part A 2006 Feb 140 4 398-401
- Screening for partial deletions in the CREBBP gene in Rubinstein-Taybi syndrome patients using multiplex PCR/liquid chromatography.
  Udaka T, Kurosawa K, Izumi K, Yoshida S, Tsukahara M, Okamoto N, Torii C, Kosaki R, Masuno M, Hosokai N, Takahashi T, Kosaki K, Genetic testing 2006 10 4 265-71