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H. Kawame · SciRah

Researcher profile · Semantic Scholar

H. Kawame

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H. Kawame — researcher profile on SciRah

h-index: 34
Works: 112
Citations: 4,359

Most-cited papers

Germline mutations in HRAS proto-oncogene cause Costello syndrome
Y. Aoki, T. Niihori, H. Kawame, K. Kurosawa +7 more
2005Nature Genetics659 citations
Semantic Scholar
Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.
Y. Aoki, T. Niihori, Toshihiro Banjo, N. Okamoto +21 more
2013American Journal of Human Genetics313 citations Open access
Semantic Scholar
Kabuki syndrome: international consensus diagnostic criteria
M. Adam, S. Banka, H. Bjornsson, O. Bodamer +10 more
2018Journal of Medical Genetics218 citations Open access
Semantic Scholar
Neonatal management of trisomy 18: Clinical details of 24 patients receiving intensive treatment
T. Kosho, Tomohiko Nakamura, H. Kawame, Atsushi Baba +2 more
2006American Journal of Medical Genetics. Part A195 citations Open access
Semantic Scholar
Cohort Profile: Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study (TMM BirThree Cohort Study): rationale, progress and perspective
S. Kuriyama, H. Metoki, M. Kikuya, T. Obara +61 more
2019International Journal of Epidemiology177 citations Open access
Semantic Scholar
Phenotypic spectrum of CHARGE syndrome with CHD7 mutations.
Michihiko Aramaki, T. Udaka, R. Kosaki, Y. Makita +11 more
2006Jornal de Pediatria172 citations
Semantic Scholar
Phenotypic spectrum and management issues in Kabuki syndrome.
H. Kawame, M. Hannibal, L. Hudgins, R. Pagon
1999Jornal de Pediatria168 citations
Semantic Scholar
Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion
N. Kurotaki, Naoki Harada, O. Shimokawa, N. Miyake +30 more
2003Human Mutation147 citations Open access
Semantic Scholar
Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia
T. Niihori, Y. Aoki, H. Ohashi, K. Kurosawa +15 more
2005Journal of Human Genetics127 citations
Semantic Scholar
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation
Tomoko Kobayashi, Y. Aoki, T. Niihori, H. Cavé +23 more
2010Human Mutation126 citations
Semantic Scholar
Study Profile of the Tohoku Medical Megabank Community-Based Cohort Study
A. Hozawa, K. Tanno, N. Nakaya, Tomohiro Nakamura +79 more
2020Journal of Epidemiology119 citations Open access
Semantic Scholar
Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature
T. Kosho, N. Okamoto, H. Ohashi, Y. Tsurusaki +25 more
2013American Journal of Medical Genetics. Part A100 citations
Semantic Scholar
Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations
M. Yaoita, T. Niihori, Seiji Mizuno, N. Okamoto +22 more
2016Human Genetics91 citations
Semantic Scholar
Prevalence and clinical features of Costello syndrome and cardio‐facio‐cutaneous syndrome in Japan: Findings from a nationwide epidemiological survey
Yu Abe, Y. Aoki, S. Kuriyama, H. Kawame +8 more
2012American Journal of Medical Genetics. Part A81 citations
Semantic Scholar
BAC array CGH reveals genomic aberrations in idiopathic mental retardation
N. Miyake, O. Shimokawa, Naoki Harada, Nadia Sosonkina +20 more
2006American Journal of Medical Genetics. Part A77 citations
Semantic Scholar
Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation
Naoki Harada, E. Hatchwell, N. Okamoto, Masato Tsukahara +13 more
2004Journal of Medical Genetics63 citations Open access
Semantic Scholar
Further delineation of the behavioral and neurologic features in Costello syndrome
H. Kawame, M. Matsui, K. Kurosawa, M. Matsuo +9 more
2003American Journal of Medical Genetics. Part A58 citations
Semantic Scholar
Genome analyses for the Tohoku Medical Megabank Project towards establishment of personalized healthcare
J. Yasuda, K. Kinoshita, F. Katsuoka, I. Danjoh +47 more
2018Journal of Biochemistry (Tokyo)52 citations
Semantic Scholar
Surgical intervention for esophageal atresia in patients with trisomy 18
Eriko Nishi, S. Takamizawa, K. Iio, Yasumasa Yamada +8 more
2014American Journal of Medical Genetics. Part A52 citations Open access
Semantic Scholar
Attitudes toward non‐invasive prenatal diagnosis among pregnant women and health professionals in Japan
Junko Yotsumoto, A. Sekizawa, K. Koide, Y. Purwosunu +4 more
2012Prenatal Diagnosis52 citations
Semantic Scholar
Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies
Shoko Komatsuzaki, Y. Aoki, T. Niihori, N. Okamoto +16 more
2010Journal of Human Genetics52 citations
Semantic Scholar
Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome.
Y. Asakura, Y. Toyota, K. Muroya, K. Kurosawa +5 more
2008Journal of Clinical Endocrinology and Metabolism50 citations Open access
Semantic Scholar
Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome.
K. Kurosawa, H. Kawame, N. Okamoto, Yukikatsu Ochiai +11 more
2005Brain & development (Tokyo. 1979)48 citations
Semantic Scholar
Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome.
N. Miyake, N. Kurotaki, Hirobumi Sugawara, O. Shimokawa +21 more
2003American Journal of Human Genetics48 citations Open access
Semantic Scholar
Syndrome of microcephaly, Dandy-Walker malformation, and Wilms tumor caused by mosaic variegated aneuploidy with premature centromere division (PCD): report of a new case and review of the literature
H. Kawame, S. Yoko, Y. Fuyama, Yoshihiro Hayashi +3 more
1999Journal of Human Genetics47 citations
Semantic Scholar
Establishment of Integrated Biobank for Precision Medicine and Personalized Healthcare: The Tohoku Medical Megabank Project
N. Fuse, Mika Sakurai-Yageta, F. Katsuoka, I. Danjoh +8 more
2019JMA Journal44 citations Open access
Semantic Scholar
Recurrent de novo MAPK8IP3 variants cause neurological phenotypes
S. Iwasawa, K. Yanagi, Atsuo Kikuchi, Yasuko Kobayashi +20 more
2019Annals of Neurology42 citations
Semantic Scholar
Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals
Y. Yamaguchi-Kabata, J. Yasuda, Osamu Tanabe, Yoichi Suzuki +26 more
2017Journal of Human Genetics42 citations
Semantic Scholar
Various types of LRP5 mutations in four patients with osteoporosis‐pseudoglioma syndrome: Identification of a 7.2‐kb microdeletion using oligonucleotide tiling microarray
S. Narumi, C. Numakura, T. Shiihara, Chizuru Seiwa +12 more
2010American Journal of Medical Genetics. Part A42 citations
Semantic Scholar
Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome
Y. Narumi, Y. Aoki, T. Niihori, M. Sakurai +18 more
2008Journal of Human Genetics39 citations
Semantic Scholar
Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)
Mari Minatogawa, Ai Unzaki, H. Morisaki, D. Syx +36 more
2021Journal of Medical Genetics37 citations Open access
Semantic Scholar
Microarray and FISH‐based genotype–phenotype analysis of 22 Japanese patients with Wolf–Hirschhorn syndrome
K. Shimizu, K. Wakui, T. Kosho, N. Okamoto +13 more
2014American Journal of Medical Genetics. Part A35 citations Open access
Semantic Scholar
Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome
Hiroaki Murakami, Y. Tsurusaki, K. Enomoto, Y. Kuroda +28 more
2020American Journal of Medical Genetics. Part A34 citations
Semantic Scholar
Japonica Array NEO with increased genome-wide coverage and abundant disease risk SNPs
Mika Sakurai-Yageta, Kazuki Kumada, C. Gocho, S. Makino +18 more
2020bioRxiv33 citations Open access
Semantic Scholar
HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome
T. Niihori, Y. Aoki, N. Okamoto, K. Kurosawa +20 more
2011Journal of Human Genetics30 citations
Semantic Scholar
Exome sequencing‐based identification of mutations in non‐syndromic genes among individuals with apparently syndromic features
Eriko Nishi, K. Masuda, Michiko Arakawa, H. Kawame +7 more
2016American Journal of Medical Genetics. Part A27 citations
Semantic Scholar
Elevated catecholamine metabolites in patients with Costello syndrome
K. Gripp, H. Kawame, D. Viskochil, L. Nicholson
2004American Journal of Medical Genetics. Part A27 citations Open access
Semantic Scholar
Functional disomy for Xq26.3-qter in a boy with an unbalanced t(X;21)(q26.3;p11.2) translocation.
M. Akiyama, H. Kawame, H. Ohashi, Takaya Tohma +5 more
2001American journal of medical genetics26 citations
Semantic Scholar
Risk of major congenital malformations associated with first-trimester antihypertensives, including amlodipine and methyldopa: A large claims database study 2010-2019.
Tomofumi Ishikawa, H. Nishigori, M. Akazawa, K. Miyakoda +11 more
2023Pregnancy Hypertension25 citations Open access
Semantic Scholar
Patellar dislocation in Kabuki syndrome.
K. Kurosawa, H. Kawame, Yukikatsu Ochiai, M. Nakashima +2 more
2002American journal of medical genetics24 citations
Semantic Scholar
Validity of congenital malformation diagnoses in healthcare claims from a university hospital in Japan
Tomofumi Ishikawa, Gen Oyanagi, T. Obara, A. Noda +5 more
2021Pharmacoepidemiology and Drug Safety23 citations
Semantic Scholar
Clinical and molecular features of patients with COL1 ‐related disorders: Implications for the wider spectrum and the risk of vascular complications
Ryojun Takeda, Tomomi Yamaguchi, S. Hayashi, S. Sano +6 more
2022American Journal of Medical Genetics. Part A20 citations Open access
Semantic Scholar
CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein
Hiroko Terui, K. Akagi, H. Kawame, K. Yura
2013Journal of Biomedical Sciences19 citations Open access
Semantic Scholar
De-novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairment
T. Kosho, S. Sakazume, H. Kawame, K. Wakui +8 more
2008Clinical Dysmorphology17 citations
Semantic Scholar
The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank Project
H. Kawame, A. Fukushima, N. Fuse, F. Nagami +28 more
2021Journal of Human Genetics16 citations
Semantic Scholar
A mild variant of Desbuquois dysplasia
Gen Nishimura, H. Hong, H. Kawame, Seiji Sato +2 more
1999European Journal of Pediatrics16 citations
Semantic Scholar
Risk of major congenital malformations associated with first‐trimester exposure to propulsives: A health administrative database study in Japan
Tomofumi Ishikawa, T. Obara, M. Akazawa, A. Noda +8 more
2021Pharmacoepidemiology and Drug Safety14 citations
Semantic Scholar
Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA.
Toshiyuki Yamamoto, M. Mencarelli, C. Di Marco, M. Mucciolo +17 more
2014European Journal of Medical Genetics14 citations
Semantic Scholar
Prenatal diagnosis of Holt‐Oram syndrome: Role of 3‐D ultrasonography
S. Sunagawa, A. Kikuchi, Y. Sano, M. Kita +4 more
2009Congenital Anomalies13 citations Open access
Semantic Scholar
[Craniodiaphyseal dysplasia].
H. Kawame
2001Ryōikibetsu shōkōgun shirīzu13 citations
Semantic Scholar

Frequent co-authors

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K. Kurosawa×20
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K. Kurosawa — researcher profile on SciRah
H. Ohashi×16
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H. Ohashi — researcher profile on SciRah
N. Okamoto×16
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N. Okamoto — researcher profile on SciRah
S. Kure×14
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S. Kure — researcher profile on SciRah

×12

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Y. Aoki — researcher profile on SciRah

Seiji Mizuno×11

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Seiji Mizuno — researcher profile on SciRah

Y. Fukushima×11

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Y. Fukushima — researcher profile on SciRah

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T. Niihori — researcher profile on SciRah

Y. Matsubara×10

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Y. Matsubara — researcher profile on SciRah

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T. Kosho — researcher profile on SciRah

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S. Kuriyama — researcher profile on SciRah

N. Matsumoto×8

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N. Matsumoto — researcher profile on SciRah