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Publications
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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 -
Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature
Nisbet AF, Adams SA, Katz ZS, Delagrammatikas CG, Izumi K, Sigal W, Ventarola K, Zackai EH, Reid JE, Liu GT, Kalish JM American Journal of Medical Genetics, Part A 2026 Aug 200 1783-1798 -
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 -
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 -
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 -
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 -
Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly
Author Collaboration UD, Huang Y, Jay KL, Yen-Wen Huang A, Wan J, Jangam SV, Chorin O, Rothschild A, Barel O, Mariani M, Iascone M, Xue H, Acosta MT, Adams DR, Alvarez L, Alvey J, Allworth A, 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, Bernstein JA, Berry GT, Bican A, Bivona S, Blue E, Bohnsack J, Bonner D, Botto L, Briere LC, Brown G, Burke EA, Burrage LC, Butte MJ, Byers P, Byrd WE, Carey J, Izumi K Genetics in Medicine 2024 Nov 26 -
Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder
Author Collaboration UD, Borroto MC, Patel H, Srivastava S, Swanson LC, Keren B, Whalen S, Mignot C, Wang X, Chen Q, Rosenfeld JA, McLean S, Littlejohn RO, Acosta MT, Adam M, Adams DR, 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, Brokamp E, Brown G, Burke EA, Burrage LC, Izumi K Pediatric Neurology 2024 Nov 160 45-53 -
Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities
Author Collaboration UD, Moulton MJ, Atala K, Zheng Y, Dutta D, Grange DK, Lin WW, Wegner DJ, Wambach JA, Duker AL, Bober MB, Kratz L, Wise CA, Oxendine I, Khanshour A, Bacino CA, Balasubramanyam A, Burrage LC, Chao HT, Chinn I, Clark GD, Craigen WJ, Dai H, Emrick LT, Ketkar S, Lalani SR, Lee BH, Lewis RA, Marom R, Orengo JP, Posey JE, Potocki L, Rosenfeld JA, Seto E, Scott DA, Tarakad A, Tran AA, Vogel TP, Hubshman MW, Worley K, Bellen HJ, Wangler MF, Yamamoto S, Kanca O, Eng CM, Liu P, Ward PA, Behrens E, Falk M, Izumi K, Rios J Genetics in Medicine 2024 Sep 26 -
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder
Author Collaboration UD, Kohler JN, Legro NR, Baldridge D, Shin J, Bowman A, Ugur B, Jackstadt MM, Shriver LP, Patti GJ, Zhang B, Feng W, McAdow AR, Goddard P, Ungar RA, Jensen T, Smith KS, Fresard L, Alvarez R, Bonner D, Reuter CM, McCormack C, Kravets E, Marwaha S, Holt JM, Acosta MT, Adam M, Adams DR, Alvarez RL, Alvey J, Amendola L, Andrews A, Ashley EA, Bacino CA, Bademci G, Balasubramanyam A, 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, Izumi K Genetics in Medicine 2024 Sep 26 -
Large-Scale Mutational Analysis Identifies UNC93B1 Variants that Drive TLR-Mediated Autoimmunity in Mice and Humans
Rael VE, Yano JA, Huizar JP, Slayden LC, Weiss MA, Turcotte EA, Terry JM, Zuo W, Thiffault I, Pastinen T, Farrow EG, Jenkins JL, Becker ML, Wong SC, Stevens AM, Otten C, Allenspach EJ, Bonner DE, Bernstein JA, Wheeler MT, Saxton RA, Liu B, Majer O, Barton GM, Acosta MT, Adams DR, Alvarez RL, Alvey J, Allworth A, Andrews A, Ashley EA, Afzali B, 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, Bernstein JA, Berry GT, Bican A, Bivona S, Blue E, Bohnsack J, Bonner D, Botto L, Briere LC, Brown G, Burke EA, Burrage LC, Butte MJ, Byers P, Byrd WE, Carey J, Cassini T, Chanprasert S, Chao HT, Chinn I, Clark GD, Coakley TR, Cobban LA, Cogan JD, Coggins M, Sessions Cole F, Colley HA, Corona R, Craigen WJ, Crouse AB, Cunningham M, D’souza P, Dai H, Dasari S, Davis J, Dayal JG, Delgado M, Dell’angelica EC, Dipple K, Doherty D, Dorrani N, Doss AL, Douine ED, Earl D, Eckstein DJ, Emrick LT, Eng CM, Falk M, Fieg EL, Fisher PG, Fogel BL, Fu J, Gahl WA, Glass I, Goddard PC, Godfrey RA, Gropman A, Halley MC, Hamid R, Hanchard N, Hassey K, Hayes N, High F, Hing A, Hisama FM, Holm IA, Hom J, Horike-Pyne M, Huang A, Huang Y, Hutchison S, Introne W, Izumi K, Jarvik GP, Jarvik J, Jayadev S, Jean-Marie O, Jobanputra V, Kaitryn E, Ketkar S, Kiley D, Kilich G, Kobren SN, Kohane IS, Kohler JN, Korrick S, Krakow D, Krasnewich DM, Kravets E, Lalani SR, Lam C, Lanpher BC, Lanza IR, Leblanc K, Lee BH, Lewis RA, Liu P, Longo N, Loo SK, Loscalzo J, Maas RL, Macnamara EF, Macrae CA, Maduro VV, Maghiro AS, Mahoney R, Malicdan MC, Mamounas LA, Manolio TA, Mao R, Marom R, Marth G, Martin BA, Martin MG, Martínez-Agosto JA, Marwaha S, McConkie-Rosell A, McCray AT, McGee E, Might M, Mikati M, Miller D, Mirzaa G, Morava E, Moretti P, Morimoto M, Mulvihill JJ, Nakano-Okuno M, Nelson SF, Nieves-Rodriguez S, Novacic D, Oglesbee D, Orengo JP, Pace L, Pak S, Carl Pallais J, Papp JC, Parker NH, Petcharet L, Phillips JA, Posey JE, Potocki L, Pusey BN, Quinlan A, Rao DA, Raper A, Raskind W, Renteria G, Reuter CM, Rives L, Robertson AK, Rodan LH, Rosenfeld JA, Rosenthal E, Rossignol F, Ruzhnikov M, Sabaii M, Sampson JB, Schedl T, Schoch K, Scott DA, Seto E, Sharma P, Shashi V, Shelkowitz E, Sheppeard S, Shin J, Silverman EK, Sinsheimer JS, Sisco K, Smith KS, Solnica-Krezel L, Solomon B, Spillmann RC, Stergachis A, Stoler JM, Sullivan K, Sutton S, Sweetser DA, Sybert V, Tabor HK, Tan QK, Tan AL, Tarakad A, Taylor H, Tekin M, Thorson W, Tifft CJ, Toro C, Tran AA, Ungar RA, Urv TK, Vanderver A, Velinder M, Viskochil D, Vogel TP, Wahl CE, Walker M, Walley NM, Wambach J, Wan J, Wang LK, Wangler MF, Ward PA, Wegner D, Hubshman MW, Wener M, Wenger T, Westerfield M, Wheeler MT, Whitlock J, Wolfe LA, Worley K, Yamamoto S, Zhang Z, Zuchner S Journal of Experimental Medicine 2024 Aug 221 -
Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis
Author Collaboration UD, Pucel J, Briere LC, Reuter C, Gochyyev P, Acosta MT, Adams DR, Alvarez RL, Alvey J, Allworth A, 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, Bernstein JA, Berry GT, Bican A, Bivona S, Blue E, Bohnsack J, Bonner D, Botto L, Brown G, Burke EA, Burrage LC, Butte MJ, Byers P, Byrd WE, Carey J, Carrasquillo O, Cassini T, Peter Chang TC, Chanprasert S, Chao HT, Chinn I, Clark GD, Coakley TR, Cobban LA, Izumi K Genetics in Medicine 2024 Jun 26 -
Nuclear speckleopathies: developmental disorders caused by variants in genes encoding nuclear speckle proteins
Regan-Fendt KE, Izumi K Human genetics 2024 Apr 143 529-544 -
Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism
Author Collaboration UD, Dohrn MF, Bademci G, Rebelo AP, Jeanne M, Borja NA, Beijer D, Danzi MC, Bivona SA, Gueguen P, Zafeer MF, Tekin M, Züchner S, Acosta MT, Adams DR, Afzali B, Allworth A, Alvarez RL, Alvey J, Andrews A, Ashley EA, Bacino CA, 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, Bernstein JA, Berry GT, Bican A, Bivona S, Blue E, Bohnsack J, Bonner D, Borja N, Botto L, Briere LC, Burke EA, Burrage LC, Butte MJ, Byers P, Byrd WE, Carey J, Izumi K Annals of Clinical and Translational Neurology 2024 Apr 11 1075-1079 -
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy
Author Collaboration UD, Donkervoort S, Mohassel P, O'Leary M, Bonner DE, Hartley T, Acquaye N, Brull A, Mozaffar T, Saporta MA, Dyment DA, Sampson JB, Pajusalu S, Austin-Tse C, Hurth K, Cohen JS, McWalter K, Warman-Chardon J, Crunk A, Foley AR, Acosta MT, Adams DR, Alvarez RL, Alvey J, Allworth A, Andrews A, Ashley EA, Afzali B, 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, Bernstein JA, Berry GT, Bican A, Bivona S, Blue E, Bohnsack J, Bonner D, Botto L, Izumi K Annals of Clinical and Translational Neurology 2024 Mar 11 629-640 -
Clinical variants paired with phenotype: A rich resource for brain gene curation
Author Collaboration BG, Chopra M, Savatt JM, Bingaman TI, Good ME, Morgan A, Cooney C, Rossel AM, VanHoute B, Cordova I, Mahida S, Lanzotti V, Baldridge D, Gurnett CA, Piven J, Hazlett H, Pomeroy SL, Sahin M, Payne PR, Riggs ER, Constantino JN, Gropman A, Smith-Hicks CL, Neul J, Agosto JA, German K, Izumi K, Abbeduto L, Dawalt L, Wangler M, Wasserstein M, Storch EA, Cohen JS, Samaco R, Molholm S, Shankar S, Srivastava S, Walkley S, Sveden A, Dies K, Gupta A, Oh I, Hauck R Genetics in Medicine 2024 Mar 26 -
De novo variants in DENND5B cause a neurodevelopmental disorder
Author Collaboration UD, Scala M, Tomati V, Ferla M, Lena M, Cohen JS, Fatemi A, Brokamp E, Bican A, Phillips JA, Koziura ME, Nicouleau M, Rio M, Siquier K, Boddaert N, Musante I, Tamburro S, Baldassari S, Iacomino M, Scudieri P, Acosta MT, Adams DR, Alvarez RL, Alvey J, Allworth A, Andrews A, Ashley EA, Afzali B, 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, Bernstein JA, Berry GT, Bivona S, Blue E, Bohnsack J, Bonner D, Botto L, Briere LC, Izumi K American Journal of Human Genetics 2024 Mar 111 529-543 -
Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder
Iwata-Otsubo A, Skraban CM, Yoshimura A, Sakata T, Alves CA, Fiordaliso SK, Kuroda Y, Vengoechea J, Grochowsky A, Ernste P, Lulis L, Nesbitt A, Tayoun AA, Gray C, Towne MC, Radtke K, Normand EA, Rhodes L, Seiler C, Shirahige K, Izumi K Human genetics 2024 Mar 143 437-453 -
Diagnostic Yield of Exome Sequencing in Pediatric Cardiomyopathy
Keisling J, Bedoukian E, Burstein DS, Gaynor JW, Gray C, Krantz I, Izumi K, Leonard J, Lin KY, Medne L, Seymour C, Skraban C, Rippert AL, Ahrens-Nicklas RC Journal of Pediatrics 2024 Feb 265 -
De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities
Author Collaboration UD, Ward SK, Wadley A, Tsai Ch, Benke PJ, Emrick L, Fisher K, Houck KM, Dai H, Acosta MT, Adam M, Adams DR, 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, Izumi K American Journal of Medical Genetics, Part A 2024 Jan 194 17-30 -
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3
Author Collaboration UD, Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen AS, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denommé-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Prasad C, Izumi K American Journal of Human Genetics 2024 Jan 111 96-118 -
Chromatin Regulatory Disorders
Izumi K 2024 Jan 796-799.e1 -
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment
Author Collaboration UD, Morimoto M, Bhambhani V, Gazzaz N, Davids M, Sathiyaseelan P, Macnamara EF, Lange J, Lehman A, Zerfas PM, Murphy JL, Acosta MT, Wang C, Alderman E, Adam M, Alvarez RL, Alvey J, Amendola L, Andrews A, Ashley EA, Azamian MS, 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, Brokamp E, Brown G, Burke EA, Burrage LC, Izumi K npj Genomic Medicine 2023 Dec 8 -
Participation in a national diagnostic research study: assessing the patient experience
Author Collaboration TU, Rosenfeld LE, LeBlanc K, Nagy A, Ego BK, Acosta MT, Adam M, Adams DR, 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, Brokamp E, Brown G, Burke EA, Burrage LC, Butte MJ, Byers P, Byrd WE, Carey J, Carrasquillo O, Cassini T, Chang TC, Chanprasert S, Izumi K Orphanet Journal of Rare Diseases 2023 Dec 18 -
Continuing a search for a diagnosis: the impact of adolescence and family dynamics
Author Collaboration UD, Miller IM, Yashar BM, Acosta MT, Adam M, Adams DR, Agrawal PB, Alvey J, Amendola L, Andrews A, Ashley EA, Azamian MS, Bacino CA, Bademci G, Baker E, 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, Bonnenmann C, Bonner D, Botto L, Boyd B, Briere LC, Brokamp E, Brown G, Burke EA, Burrage LC, Butte MJ, Byers P, Byrd WE, Carey J, Carrasquillo O, Chang TC, Chanprasert S, Izumi K Orphanet Journal of Rare Diseases 2023 Dec 18 -
Unraveling non-participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors
Author Collaboration UD, McConkie-Rosell A, Spillmann RC, Schoch K, Sullivan JA, Walley N, McDonald M, Hooper SR, Shashi V, Adam M, Adams DR, Alvey J, Amendola L, Andrews A, Ashley EA, Azamian MS, 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, Bennet J, Berg-Rood B, Bernstein JA, Berry GT, Bican A, Bivona S, Blue E, Bohnsack J, Bonner D, Botto L, Boyd B, Briere LC, Brokamp E, Brown G, Burke EA, Burrage LC, Butte MJ, Byers P, Byrd WE, Carey J, Carrasquillo O, Izumi K Journal of Genetic Counseling 2023 Oct 32 993-1008 -
Expansion of clinical and variant spectrum of EEF2-related neurodevelopmental disorder: Report of two additional cases
Guo R, Rippert AL, Cook EB, Alves CA, Bird LM, Izumi K American Journal of Medical Genetics, Part A 2023 Oct 191 2602-2609 -
Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care
Author Collaboration UD, Halley MC, Young JL, Tang C, Mintz KT, Lucas-Griffin S, Maghiro AS, Ashley EA, Tabor HK, Acosta MT, Adam M, Adams DR, Alvarez RL, Alvey J, Amendola L, Andrews A, 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, Cassini T, Izumi K Journal of Pediatrics 2023 Oct 261 -
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy
Author Collaboration UD, Shashi V, Schoch K, Ganetzky R, Muraresku C, Ganetzky R, Kranz PG, Sondheimer N, Markert ML, Valdez P, Markert ML, Cope H, Sadeghpour A, Sadeghpour A, Roehrs P, Arbogast T, Davis EE, Tyndall AV, Ping-Yee Au B, Parboosingh JS, Lamont RE, Bernier FP, Innes AM, Esser MJ, Woodward KE, Wright NA, Benseler SM, Parsons SJ, El-Dairi M, Smith EC, Tennison M, Davis EE, Acosta MT, Adam M, Adams DR, 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, Izumi K Genetics in Medicine 2023 Sep 25 -
Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive Development
Izumi K, Ganetzky RD, Wertheim GB, Skraban CM, Bedoukian EC, Wilkens A, Fincher C, Thomas NH, Ginsberg JP, Rheingold SR, Conlin LK, Deardorff MA Molecular Syndromology 2023 Aug 14 303-309 -
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 Journal of Biological Chemistry 2023 Aug 299 -
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling
Author Collaboration UD, Author Collaboration TU, Morleo M, Venditti R, Theodorou E, Briere LC, Rosello M, Tirozzi A, Tammaro R, Al-Badri N, High FA, Shi J, Acosta MT, Adam M, Adams DR, 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, Brown G, Burke EA, Burrage LC, Butte MJ, Byers P, Byrd WE, Carey J, Izumi K American Journal of Human Genetics 2023 Aug 110 1377-1393 -
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder
Author Collaboration GE, Author Collaboration UD, Niggl E, Bouman A, Briere LC, Hoogenboezem RM, Wallaard I, Park J, Admard J, Wilke M, Harris-Mostert ED, Elgersma M, Bain J, Balasubramanian M, Banka S, Benke PJ, Bertrand M, Blesson AE, Clayton-Smith J, Ellingford JM, Gillentine MA, Goodloe DH, Haack TB, Jain M, Krantz I, Luu SM, McPheron M, Muss CL, Raible SE, Robin NH, Spiller M, Starling S, Sweetser DA, Thiffault I, Vetrini F, Witt D, Woods E, Zhou D, Ambrose JC, Arumugam P, Bevers R, Bleda M, Boardman-Pretty F, Boustred CR, Brittain H, Brown MA, Caulfield MJ, Chan GC, Giess A, Griffin JN, Hamblin A, Izumi K American Journal of Human Genetics 2023 Aug 110 1414-1435 -
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 2113-2131 -
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 FJ, Krantz ID, Murrell JR, Izumi K American Journal of Medical Genetics, Part A 2023 Aug 191 2149-2155 -
Dominant-negative variants in CBX1 cause a neurodevelopmental disorder
Kuroda Y, Iwata-Otsubo A, Dias KR, Temple SE, 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 2023 Jul 25 -
De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features
Author Collaboration UD, Andrews JC, Mok JW, Kanca O, Jangam S, Tifft C, Macnamara EF, Russell BE, Wang Lk, Acosta MT, Adam M, Adams DR, 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, Brokamp E, Brown G, Burke EA, Burrage LC, Butte MJ, Byers P, Byrd WE, Carey J, Izumi K Genetics in Medicine 2023 Jun 25 -
Unmasking the challenges of Kabuki syndrome in adulthood: A case series
Priestley JR, Rippert AL, Condit C, Izumi K, Kallish S, Drivas TG American Journal of Medical Genetics, Part C: Seminars in Medical Genetics 2023 Jun 193 128-138 -
Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome
Author Collaboration Uo, Pujol-Giménez J, Mirzaa G, Blue EE, Albano G, Miller DE, Allworth A, Bennett JT, Byers PH, Chanprasert S, Chen J, Doherty D, Folta AB, Gillentine MA, Glass I, Hing A, Horike-Pyne M, Leppig KA, Parhin A, Ranchalis J, Raskind WH, Rosenthal EA, Schwarze U, Sheppeard S, Strohbehn S, Sybert VP, Timms A, Wener M, Bamshad MJ, Leal SM, Nickerson DA, Anderson P, Bacus TJ, Brower K, Buckingham KJ, Chong JX, Sánchez DC, Davis CP, Davis CJ, Frazar CD, Gomeztagle-Burgess K, Gordon WW, Hurless JR, Jarvik GP, Johanson E, Kolar JT, Marvin CT, McGee S, McGoldrick DJ, Mekonnen B, Izumi K Annals of Clinical and Translational Neurology 2023 Jun 10 1046-1053 -
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 1418-1424 -
Bi-allelic variants in INTS11 are associated with a complex neurological disorder
Author Collaboration UD, Tepe B, Macke EL, Niceta M, Weisz Hubshman M, Kanca O, Schultz-Rogers L, Zarate YA, Schaefer GB, Granadillo De Luque JL, Wegner DJ, Cogne B, Gilbert-Dussardier B, Le Guillou X, Wagner EJ, Pais LS, Neil JE, Mochida GH, Walsh CA, Magal N, Drasinover V, Shohat M, Schwab T, Schmitz C, Clark K, Fine A, Lanpher B, Gavrilova R, Blanc P, Burglen L, Afenjar A, Steel D, Kurian MA, Prabhakar P, Gößwein S, Di Donato N, Bertini ES, Acosta MT, Adam M, Adams DR, Alvey J, Amendola L, Andrews A, Ashley EA, Azamian MS, Bacino CA, Bademci G, Balasubramanyam A, Baldridge D, Bale J, Izumi K American Journal of Human Genetics 2023 May 110 774-789 -
Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease
Sharma M, Leung D, Momenilandi M, Jones LC, 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 IY, Chan GS, 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 CS, Poon GW, Hoischen A, Van Der Made CI, Yang J, Chan KW, Da Rosa Duque JS, Lee PP, Ho MH, Chung BH, Le HT, 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 CD, Palma P, Burns SO, Meyts I, Casanova JL, Lyons JJ, Parvaneh N, Van Nguyen AT, Cancrini C, Heimall J, Ahmed H, McKinnon ML, Lau YL, Béziat V, Turvey SE Journal of Experimental Medicine 2023 May 220 -
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, Mau-Them FT, 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 -
A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network
Author Collaboration UD, Author Collaboration UD, Spillmann RC, Tan QK, Reuter C, Schoch K, Kohler J, Bonner D, Zastrow D, Alkelai A, Baugh E, Cope H, Marwaha S, Wheeler MT, Bernstein JA, Shashi V, Acosta MT, Adam M, Adams DR, Alvey J, Amendola L, Andrews A, Ashley EA, Azamian MS, 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, Bennet J, Berg-Rood B, Berry GT, Bican A, Bivona S, Blue E, Bohnsack J, Botto L, Boyd B, Briere LC, Brokamp E, Brown G, Burke EA, Burrage LC, Izumi K Genetics in Medicine 2023 Apr 25 -
Erratum: Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy (The American Journal of Human Genetics (2023) 110(1) (120–145), (S000292972200502X), (10.1016/j.ajhg.2022.11.011))
Author Collaboration GE, 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 Tobias B. Haack U, Heinritz W, Matzker E, Alhaddad B, Jamra RA, 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 AR, Traberg R, Douzgou S, Pirt H, Ismayilova N, Banka S, Chao HT, Agrawal PB American Journal of Human Genetics 2023 Mar 110 548 -
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy
Author Collaboration GE, 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 AR, Traberg R, Douzgou S, Pirt H, Ismayilova N, Banka S, Chao HT, Agrawal PB American Journal of Human Genetics 2023 Jan 110 120-145 -
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 AP, Sinnema M, Stevens SC, 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 2022 Nov 24 2351-2366 -
Endocannabinoid dysfunction in neurological disease: Neuro-ocular DAGLA-related syndrome
Author Collaboration UD, Bainbridge MN, Mazumder A, Ogasawara D, Abou Jamra R, Bernard G, Bertini E, Burglen L, Cope H, Crawford A, Derksen A, Dure L, Gantz E, Koch-Hogrebe M, Hurst AC, Mahida S, Marshall P, Micalizzi A, Novelli A, Peng H, Rodriguez D, Robbins SL, Rutledge SL, Scalise R, Schließke S, Shashi V, Srivastava S, Thiffault I, Topol S, Qebibo L, Wieczorek D, Cravatt B, Haricharan S, Torkamani A, Friedman J, Acosta MT, Adam M, Adams DR, Alvey J, Amendola L, Andrews A, Ashley EA, Azamian MS, Bacino CA, Bademci G, Balasubramanyam A, Baldridge D, Bale J, Bamshad M, Barbouth D, Izumi K Brain 2022 Oct 145 3383-3390 -
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 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 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 CM, Holwerda SJ, Terhal PA, Schuhmann S, Vasileiou G, Khalifa M, Nugud AA, Yasaei H, Ousager LB, Brasch-Andersen C, Deb W, Besnard T, Simon ME, Amsterdam KH, Verbeek NE, Matalon D, Dykzeul N, White S, Spiteri E, Devriendt K, Boogaerts A, Willemsen M, Brunner HG, Sinnema M, De Vries BB, 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 2022 Aug 24 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 Journal of Pediatrics 2022 Jul 246 251-265.e2 -
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder
Author Collaboration UD, Shankar SP, Grimsrud K, Lanoue L, Egense A, Willis B, Hörberg J, AlAbdi L, Mayer K, Ütkür K, Monaghan KG, Krier J, Stoler J, Alnemer M, Shankar PR, Schaffrath R, Alkuraya FS, Brinkmann U, Eriksson LA, Lloyd K, Rauen KA, Acosta MT, Adam M, Adams DR, Alvey J, Amendola L, Andrews A, Ashley EA, Azamian MS, 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, Bennet J, Berg-Rood B, Bernstein JA, Berry GT, Bican A, Bivona S, Blue E, Bohnsack J, Bonner D, Izumi K Genetics in Medicine 2022 Jul 24 1567-1582 -
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 2022 Jun 24 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 1443-1447 -
Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?
Murrell JR, Nesbitt AM, 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 Journal of Molecular Diagnostics 2022 Mar 24 274-286 -
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder
Author Collaboration UD, 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 Human mutation 2022 Feb 43 266-282 -
Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation
Author Collaboration CS, Polla DL, Edmondson AC, Duvet S, March ME, Sousa AB, Lehman A, Niyazov D, van Dijk F, Demirdas S, van Slegtenhorst MA, Kievit AJ, 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 AP American Journal of Human Genetics 2021 Jul 108 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 PY, 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 JL, 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 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 ME, Koolen DA, Pfundt R, Lieden A, Anderlid BM, Glatz D, Mannens MM, Bakshi M, Mallette FA, van Haelst MM, Campeau PM Genetics in Medicine 2021 Feb 23 374-383 -
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 185 228-233 -
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 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 2020 Aug 22 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 -
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 2020 Feb 22 423-426 -
Interstitial 4q Deletion Syndrome including NR3C2 Causing Pseudohypoaldosteronism
Barone Pritchard A, Ritter A, Kearney HM, Izumi K Molecular Syndromology 2020 Jan 10 327-331 -
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 JE, 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 105 987-995 -
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder
Author Collaboration TD, Snijders Blok L, Kleefstra T, Venselaar H, Maas S, Kroes HY, Lachmeijer AM, van Gassen KL, 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 105 403-412 -
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 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 65 653-663 -
A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies
Author Collaboration DS, Nixon KC, 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 104 596-610 -
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 2575-2586 -
NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly
Schanze I, Bunt J, Lim JW, 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 103 752-768 -
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 AN Epilepsy Research 2018 Sep 145 89-92 -
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 1890-1896 -
Cardiac Fibroma with Ventricular Tachycardia: An Unusual Clinical Presentation of Nevoid Basal Cell Carcinoma Syndrome
Ritter AL, Granquist EJ, Ramesh Iyer V, Izumi K Molecular Syndromology 2018 Jul 9 219-223 -
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 176 969-972 -
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 176 241-245 -
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 2889-2894 -
Disorders of Transcriptional Regulation: An Emerging Category of Multiple Malformation Syndromes
Izumi K Molecular Syndromology 2016 Oct 7 262-273 -
ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects
Izumi K, Brett M, Nishi E, Drunat S, Tan ES, Fujiki K, Lebon S, Cham B, Masuda K, Arakawa M, Jacquinet A, Yamazumi Y, Chen ST, Verloes A, Okada Y, Katou Y, Nakamura T, Akiyama T, Gressens P, Foo R, Passemard S, Tan EC, El Ghouzzi V, Shirahige K American Journal of Human Genetics 2016 Aug 99 451-459 -
Mosaic ratio quantification of isochromosome 12p in Pallister–Killian syndrome using droplet digital PCR
Fujiki K, Shirahige K, Kaur M, Deardorff MA, Conlin LK, Krantz ID, Izumi K Molecular Genetics and Genomic Medicine 2016 May 4 257-261 -
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 170 471-475 -
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 167 2411-2417 -
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 Journal of Biological Chemistry 2015 Aug 290 21713-21723 -
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 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 1268-1274 -
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 1289-1293 -
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 47 338-344 -
12p microRNA expression in fibroblast cell lines from probands with Pallister-Killian syndrome
Izumi K, Zhang Z, Kaur M, Krantz ID Chromosome Research 2014 Dec 22 453-461 -
Pallister-Killian syndrome
Izumi K, Krantz ID American Journal of Medical Genetics, Part C: Seminars in Medical Genetics 2014 Dec 166 406-413 -
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 57 558-561 -
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 Oct 9 -
Cardiac manifestations of Pallister-Killian syndrome
Tilton RK, Wilkens A, Krantz ID, Izumi K American Journal of Medical Genetics, Part A 2014 May 164 1130-1135 -
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 161 3137-3143 -
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 161 3150-3154 -
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 Nov 30 e263-e264 -
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 161 1929-1939 -
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 161 166-171 -
Developmental and behavioral characteristics of individuals with Pallister-Killian syndrome
Kostanecka A, Close LB, Izumi K, Krantz ID, Pipan M American Journal of Medical Genetics, Part A 2012 Dec 158 A 3018-3025 -
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 158 A 3033-3045 -
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 158 A 3046-3053 -
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 158 A 3002-3017 -
1.9Mb 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 158 A 1535-1541 -
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 Journal of Pediatrics 2012 Apr 160 645-650.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 155 3148-3152 -
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 155 1384-1389 -
Diaphragm dysfunction with congenital cytomegalovirus infection
Izumi K, Hokuto I, Yamaguchi S, Uezono A, Ikeda K, Rice L, McCandless SE, Craven DI Journal of Perinatology 2010 Oct 30 691-694 -
Submicroscopic familial chromosomal translocation between 7q and 12p mimicking an autosomal dominant holoprosencephaly syndrome
Izumi K, Culler D, Solomon BD, Muenke M, Parikh AS Clinical Genetics 2010 Oct 78 402-404 -
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 152 2115-2119 -
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 152 1028-1032 -
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 13 623-630 -
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 65 607-612 -
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 149 496-500 -
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 146 1967-1971 -
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 143 2838-2842 -
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 Sep 11 216-227 -
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 Sep 11 241-248 -
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 61 660-665 -
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 143 1087-1090 -
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 36 258-260 -
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 49-52 -
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 Dec 10 265-271 -
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 1054-1057 -
Umbilical cord length in urinary tract abnormalities associated with oligohydramnios: Evidence regarding developmental pathogenesis
Izumi K, Jones KL, Kosaki K, Benirschke K Fetal and Pediatric Pathology 2006 Sep 25 233-240 -
Cleidocranial dysplasia plus vascular anomalies with 6p21.2 microdeletion spanning RUNX2 and VEGF [4]
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 2006 Feb 140 A 398-401 -
Russell-Silver syndrome
Kosaki K, Izumi K, Hasegawa T Nippon rinsho. Japanese journal of clinical medicine 2006 Suppl 3 436-439
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De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders
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
- Medical Education - Keio University School of Medicine/Tokyo (1997-2003)
- Other - Keio University Graduate School of Medicine/Tokyo (2004-2008), Master of Philosophy