| Underlying genetic diagnosis of Pierre Robin sequence: retrospective chart review at two children’s hospitals and a systematic literature review K Izumi, LL Konczal, AL Mitchell, MC Jones The Journal of pediatrics 160 (4), 645-650. e2, 2012 | 165 | 2012 |
| Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin K Izumi, R Nakato, Z Zhang, AC Edmondson, S Noon, MC Dulik, ... Nature genetics 47 (4), 338-344, 2015 | 132 | 2015 |
| Novel clinical manifestations in Pallister–Killian syndrome: Comprehensive evaluation of 59 affected individuals and review of previously reported cases A Wilkens, H Liu, K Park, LB Campbell, M Jackson, A Kostanecka, ... American Journal of Medical Genetics Part A 158 (12), 3002-3017, 2012 | 101 | 2012 |
| Clinical features of three girls with mosaic genome‐wide paternal uniparental isodisomy JM Kalish, LK Conlin, TR Bhatti, HA Dubbs, MC Harris, K Izumi, ... American journal of medical genetics Part A 161 (8), 1929-1939, 2013 | 78 | 2013 |
| Pallister–Killian syndrome K Izumi, ID Krantz American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2014 | 76 | 2014 |
| ARCN1 mutations cause a recognizable craniofacial syndrome due to COPI-mediated transport defects K Izumi, M Brett, E Nishi, S Drunat, ES Tan, K Fujiki, S Lebon, B Cham, ... The American Journal of Human Genetics 99 (2), 451-459, 2016 | 74 | 2016 |
| The deubiquitinating enzyme USP7 regulates androgen receptor activity by modulating its binding to chromatin ST Chen, M Okada, R Nakato, K Izumi, M Bando, K Shirahige Journal of Biological Chemistry 290 (35), 21713-21723, 2015 | 57 | 2015 |
| Increased Clinical Sensitivity and Specificity of Plasma Protein N-Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation by Use of Flow Injection … J Chen, X Li, A Edmondson, GD Meyers, K Izumi, AM Ackermann, ... Clinical chemistry 65 (5), 653-663, 2019 | 53 | 2019 |
| Disorders of transcriptional regulation: an emerging category of multiple malformation syndromes K Izumi Molecular syndromology 7 (5), 262-273, 2016 | 50 | 2016 |
| Endocrine phenotype of 6q16.1–q21 deletion involving SIM1 and Prader–Willi syndrome‐like features K Izumi, R Housam, C Kapadia, VA Stallings, L Medne, TH Shaikh, ... American Journal of Medical Genetics Part A 161 (12), 3137-3143, 2013 | 50 | 2013 |
| Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister–Killian syndrome LK Conlin, M Kaur, K Izumi, L Campbell, A Wilkens, D Clark, MA Deardorff, ... American Journal of Medical Genetics Part A 158 (12), 3046-3053, 2012 | 50 | 2012 |
| Duplication 12p and Pallister–Killian syndrome: A case report and review of the literature toward defining a Pallister–Killian syndrome minimal critical region K Izumi, LK Conlin, D Berrodin, C Fincher, A Wilkens, ... American Journal of Medical Genetics Part A 158 (12), 3033-3045, 2012 | 50 | 2012 |
| Tietz syndrome: unique phenotype specific to mutations of MITF nuclear localization signal K Izumi, T Kohta, Y Kimura, S Ishida, T Takahashi, A Ishiko, K Kosaki Clinical genetics 74 (1), 93-95, 2008 | 50 | 2008 |
| De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies H Pinz, LC Pyle, D Li, K Izumi, C Skraban, J Tarpinian, SR Braddock, ... American journal of medical genetics Part A 176 (4), 969-972, 2018 | 46 | 2018 |
| Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease M Sharma, D Leung, M Momenilandi, LCW Jones, L Pacillo, AE James, ... Journal of Experimental Medicine 220 (5), e20221755, 2023 | 45 | 2023 |
| A syndromic neurodevelopmental disorder caused by mutations in SMARCD1, a core SWI/SNF subunit needed for context-dependent neuronal gene regulation in flies KCJ Nixon, J Rousseau, MH Stone, M Sarikahya, S Ehresmann, S Mizuno, ... The American Journal of Human Genetics 104 (4), 596-610, 2019 | 42 | 2019 |
| Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome SE Sheppard, IM Campbell, MH Harr, N Gold, D Li, HT Bjornsson, ... American Journal of Medical Genetics Part A 185 (6), 1649-1665, 2021 | 41 | 2021 |
| De novo variants disturbing the transactivation capacity of POU3F3 cause a characteristic neurodevelopmental disorder LS Blok, T Kleefstra, H Venselaar, S Maas, HY Kroes, AMA Lachmeijer, ... The American Journal of Human Genetics 105 (2), 403-412, 2019 | 41 | 2019 |
| NFIB haploinsufficiency is associated with intellectual disability and macrocephaly I Schanze, J Bunt, JWC Lim, D Schanze, RJ Dean, M Alders, P Blanchet, ... The American Journal of Human Genetics 103 (5), 752-768, 2018 | 40 | 2018 |
| Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants LX Zhang, G Lemire, C Gonzaga-Jauregui, S Molidperee, ... Genetics in Medicine 22 (8), 1338-1347, 2020 | 34 | 2020 |
