H. Kawame

发表

Single exon mutation in arylsulfatase A gene has two effects: loss of enzyme activity and aberrant splicing

Y. Eto, H. Ida, T. Ohashi, 1994, Human Genetics.

Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia

H. Ohashi, Y. Matsubara, T. Niihori, 2005, Journal of Human Genetics.

Genome analyses for the Tohoku Medical Megabank Project towards establishment of personalized healthcare

K. Kinoshita, J. Yasuda, M. Nagasaki, 2018, Journal of biochemistry.

Further delineation of the behavioral and neurologic features in Costello syndrome

Y. Fukushima, H. Ohashi, K. Kurosawa, 2003, American journal of medical genetics. Part A.

Prevalence and clinical features of Costello syndrome and cardio‐facio‐cutaneous syndrome in Japan: Findings from a nationwide epidemiological survey

S. Kuriyama, T. Ogata, H. Ohashi, 2012, American journal of medical genetics. Part A.

Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.

Toshihiko Ogura, Kenji Kurosawa, Yoichi Matsubara, 2013, American journal of human genetics.

The Tohoku Medical Megabank Project: Design and Mission.

Hiroshi Tanaka, Yasuyuki Taki, Kengo Kinoshita, 2016, Journal of epidemiology.

BAC array CGH reveals genomic aberrations in idiopathic mental retardation

Naomichi Matsumoto, Kenji Kurosawa, Yoshio Makita, 2006, American journal of medical genetics. Part A.

Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies

R. Hennekam, S. Hopman, H. Ohashi, 2010, Journal of Human Genetics.

Validity of congenital malformation diagnoses in healthcare claims from a university hospital in Japan

N. Mano, T. Obara, R. Inoue, 2021, Pharmacoepidemiology and drug safety.

Efficacy of denosumab therapy for osteoporosis-pseudoglioma syndrome with osteoporosis: a case report

H. Kato, Yukio Nakamura, H. Kawame, 2018, Modern Rheumatology Case Reports.

Japonica Array NEO with increased genome-wide coverage and abundant disease risk SNPs

K. Kinoshita, J. Yasuda, G. Tamiya, 2020, bioRxiv.

Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel of 3552 Japanese individuals

K. Kinoshita, J. Yasuda, M. Nagasaki, 2019, Human Genetics.

Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations

O. Migita, P. Lapunzina, T. Ogata, 2016, Human Genetics.

A Pilot Study for Return of Individual Pharmacogenomic Results to Population-Based Cohort Study Participants

M. Hiratsuka, S. Kuriyama, Y. Yamaguchi-Kabata, 2022, JMA journal.

HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome

J. Inazawa, K. Ihara, Kyoko Watanabe, 2011, Journal of Human Genetics.

A comparison of genome cohort participants’ genetic knowledge and preferences to receive genetic results before and after a genetics workshop

A. Shimizu, F. Aizawa, A. Fukushima, 2018, Journal of Human Genetics.

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

K. Kurosawa, H. Kawame, K. Maekawa, 1999, Journal of Human Genetics.

Establishment of Integrated Biobank for Precision Medicine and Personalized Healthcare: The Tohoku Medical Megabank Project

K. Kinoshita, G. Tamiya, R. Shimizu, 2019, JMA journal.

Recurrent de novo MAPK8IP3 variants cause neurological phenotypes

W. Shoji, K. Nakayama, N. Matsumoto, 2019, Annals of neurology.

Dichorionic twin fetuses with VACTERL association

Tomohiko Nakamura, A. Kikuchi, H. Kawame, 2007, The journal of obstetrics and gynaecology research.

Returning individual genomic results to population-based cohort study participants with BRCA1/2 pathogenic variants

Y. Yamaguchi-Kabata, A. Masamune, M. Shimada, 2022, Breast Cancer.

Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature

Y. Fukushima, N. Niikawa, N. Matsumoto, 2013, American journal of medical genetics. Part A.

Mutation screening of 17 Japanese patients with neuropathic Gaucher disease

Y. Eto, O. Rennert, H. Ida, 1996, Human Genetics.

Attitudes toward non‐invasive prenatal diagnosis among pregnant women and health professionals in Japan

T. Okai, K. Ichizuka, R. Matsuoka, 2012, Prenatal diagnosis.

Mitochondrial encephalomyopathies preceded by de-Toni-Debré-Fanconi syndrome or focal segmental glomerulosclerosis.

T. Ohashi, H. Kawame, Y. Kanetsuna, 1996, Clinical nephrology.

Molecular characteristics in Japanese patients with lipidosis: Novel mutations in metachromatic leukodystrophy and Gaucher disease

Y. Eto, H. Ida, T. Ohashi, 1993, Molecular and Cellular Biochemistry.

Molecular screening of Japanese patients with gaucher disease: Phenotypic variability in the same genotypes

Y. Eto, H. Kawame, K. Maekawa, 1993, Human mutation.

Allele-specific replication timing in imprinted domains: absence of asynchrony at several loci.

R. Hansen, H. Kawame, S. Gartler, 1995, Human molecular genetics.

Phenotypic spectrum and management issues in Kabuki syndrome.

R. Pagon, M. Hannibal, H. Kawame, 1999, The Journal of pediatrics.

Clinical and molecular features of patients with COL1 ‐related disorders: Implications for the wider spectrum and the risk of vascular complications

T. Taketani, Yukio Nakamura, H. Kawame, 2022, American journal of medical genetics. Part A.

Novel missense COL2A1 variant in a fetus with achondrogenesis type II

A. Okamoto, H. Kawame, O. Samura, 2022, Human Genome Variation.

Graves' disease in patients with 22q11.2 deletion.

K. Sullivan, K. Tachibana, D. McDonald-McGinn, 2001, The Journal of pediatrics.

Germline mutations in HRAS proto-oncogene cause Costello syndrome

Yukichi Tanaka, M. Filocamo, H. Ohashi, 2005, Nature Genetics.

Neonatal management of trisomy 18: Clinical details of 24 patients receiving intensive treatment

Y. Fukushima, Tomohiko Nakamura, M. Tamura, 2006, American journal of medical genetics. Part A.

Phenotypic spectrum of CHARGE syndrome with CHD7 mutations.

Y. Fukushima, R. Kosaki, K. Kosaki, 2006, The Journal of pediatrics.

Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals

K. Kinoshita, R. Yamashita, J. Yasuda, 2018, Journal of Human Genetics.

Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals

Kengo Kinoshita, Masao Nagasaki, Naoki Nariai, 2015, Nature Communications.

Kabuki syndrome: international consensus diagnostic criteria

N. Niikawa, G. Merla, S. Banka, 2018, Journal of Medical Genetics.

Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA.

C. Ruivenkamp, Kayoko Saito, M. Breuning, 2014, European journal of medical genetics.

Very late DNA replication in the human cell cycle.

R. Hansen, C. Laird, H. Kawame, 1998, Proceedings of the National Academy of Sciences of the United States of America.

Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation

Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, Albert David, 2010, Human mutation.

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome

Koichi Tabayashi, Kenji Kurosawa, Yoichi Matsubara, 2008, Journal of Human Genetics.

Microarray and FISH‐based genotype–phenotype analysis of 22 Japanese patients with Wolf–Hirschhorn syndrome

Y. Fukushima, H. Ohashi, N. Okamoto, 2014, American journal of medical genetics. Part A.

Shimizu et al. Microarray and FISH-based Genotype-Phenotype Analysis of 22 Japanese Patients with Wolf-Hirschhorn Syndrome

Y. Fukushima, H. Ohashi, N. Okamoto, 2014 .

New from NPG

Tadashi Kaname, Kenji Naritomi, Hiroshi Doi, 2012, Nature Medicine.

Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation

N. Niikawa, E. Hatchwell, K. Yoshiura, 2004, Journal of Medical Genetics.

Various types of LRP5 mutations in four patients with osteoporosis‐pseudoglioma syndrome: Identification of a 7.2‐kb microdeletion using oligonucleotide tiling microarray

M. Emi, T. Shiihara, T. Matsuishi, 2010, American journal of medical genetics. Part A.

Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion

Jan-Fang Cheng, Naomichi Matsumoto, Kenji Kurosawa, 2003, Human mutation.

Patellar dislocation in Kabuki syndrome.

H. Ohashi, K. Kurosawa, H. Kawame, 2002, American journal of medical genetics.

Elevated catecholamine metabolites in patients with Costello syndrome

K. Gripp, D. Viskochil, H. Kawame, 2004, American journal of medical genetics. Part A.

Psychosocial Responses to being Identified as a Balanced Chromosomal Translocation Carrier: a Qualitative Investigation of Parents in Japan

H. Ohashi, H. Kawame, M. Kaneko, 2015, Journal of Genetic Counseling.

Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome.

Y. Fukushima, N. Niikawa, T. Shiihara, 2003, American journal of human genetics.

Cohort Profile: Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study (TMM BirThree Cohort Study): rationale, progress and perspective

K. Kinoshita, M. Kikuya, J. Yasuda, 2019, International journal of epidemiology.

Gonadal sex cord stromal tumor in a patient with Rubinstein−Taybi syndrome

K. Kurosawa, K. Fukutani, H. Kawame, 2002, Pediatrics international : official journal of the Japan Pediatric Society.

Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations

O. Migita, P. Lapunzina, T. Ogata, 2016, Human Genetics.

The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank Project

J. Yasuda, S. Kuriyama, Y. Yamaguchi-Kabata, 2021, Journal of Human Genetics.

The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank Project

K. Kinoshita, J. Yasuda, S. Kuriyama, 2021, Journal of Human Genetics.

Construction of JRG (Japanese reference genome) with single-molecule real-time sequencing

K. Misawa, J. Yasuda, M. Nagasaki, 2019, Human Genome Variation.

Construction of JRG (Japanese reference genome) with single-molecule real-time sequencing

K. Kinoshita, K. Misawa, J. Yasuda, 2019, Human Genome Variation.

Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome

K. Kosaki, Y. Kuroki, Y. Tsurusaki, 2020, American journal of medical genetics. Part A.

[Ter Haar syndrome].

H. Kawame, 2001, Ryōikibetsu shōkōgun shirīzu.

Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients: absence of the common Jewish 84GG and 1226G mutations

Y. Eto, O. Rennert, H. Ida, 1995, Human Genetics.

A new glucocerebrosidase-gene missense mutation responsible for neuronopathic Gaucher disease in Japanese patients.

Y. Eto, H. Kawame, 1991, American journal of human genetics.

Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome

Y. Fukushima, Y. Kuroki, N. Okamoto, 2005, Brain and Development.

Surgical intervention for esophageal atresia in patients with trisomy 18

Y. Fukushima, Tomohiko Nakamura, Eriko Nishi, 2014, American journal of medical genetics. Part A.

Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome.

K. Kosaki, K. Fujita, K. Kurosawa, 2008, The Journal of clinical endocrinology and metabolism.

Osteogenesis imperfecta-like syndrome with severe mental retardation and extrapyramidal tract signs

G. Nishimura, H. Kawame, K. Kurosawa, 1998, Pediatric Radiology.

Study Profile of the Tohoku Medical Megabank Community-Based Cohort Study

K. Kinoshita, S. Nishizuka, M. Kikuya, 2020, Journal of epidemiology.

Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations

Y. Eto, O. Rennert, H. Ida, 1997, Journal of Inherited Metabolic Disease.

De-novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairment

Y. Fukushima, N. Niikawa, N. Matsumoto, 2008, Clinical dysmorphology.

CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein

K. Yura, K. Akagi, H. Kawame, 2013, Journal of Biomedical Science.

Nonimmunologic hydropic fetalis associated with polypoid embolizations of both umbilical arteries

Y. Ogiso, A. Kikuchi, T. Horikoshi, 2008, Prenatal diagnosis.

[Clinical spectrum and management of holoprosencephaly].

H. Kawame, A. Akatsuka, Y. Ochiai, 2000, No to hattatsu = Brain and development.

Prenatal findings in a fetus with contiguous gene syndrome caused by deletion of Xp22.3 that includes locus for X‐linked recessive type of chondrodysplasia punctata (CDPX1)

A. Kikuchi, T. Horikoshi, H. Kawame, 2010, The journal of obstetrics and gynaecology research.

Risk of major congenital malformations associated with first-trimester antihypertensives, including amlodipine and methyldopa: A large claims database study 2010-2019.

S. Kuriyama, H. Nishigori, N. Yaegashi, 2023, Pregnancy hypertension.

Prenatal diagnosis of Holt‐Oram syndrome: Role of 3‐D ultrasonography

A. Kikuchi, T. Horikoshi, H. Kawame, 2009, Congenital anomalies.

GFAP variant p. Tyr366Cys demonstrated widespread brain cavitation in neonatal Alexander disease.

T. Kaname, N. Higurashi, K. Yanagi, 2021, Radiology case reports.

Rapid identification of mutations in the glucocerebrosidase gene of Gaucher disease patients by analysis of single-strand conformation polymorphisms

Y. Eto, Y. Hasegawa, H. Kawame, 1992, Human Genetics.

Challenges of secondary finding disclosure in genomic medicine in rare diseases: A nation-wide survey of Japanese facilities outsourcing comprehensive genetic testing

E. Nanba, H. Kawame, Y. Goto, 2022, Journal of Human Genetics.

A mild variant of Desbuquois dysplasia

K. Ozono, G. Nishimura, H. Hong, 1999, European Journal of Pediatrics.

Fatal case of Hajdu–Cheney syndrome with idiopathic pulmonary hemosiderosis

H. Kawame, A. Kikuchi, Hiroshi Tanaka, 2019, Pediatrics international : official journal of the Japan Pediatric Society.

A comparison of genome cohort participants’ genetic knowledge and preferences to receive genetic results before and after a genetics workshop

A. Shimizu, F. Aizawa, A. Fukushima, 2018, Journal of Human Genetics.

Functional disomy for Xq26.3-qter in a boy with an unbalanced t(X;21)(q26.3;p11.2) translocation.

M. Akiyama, H. Kawame, T. Tohma, 2001, American journal of medical genetics.

Mutations in the arylsulfatase A gene of Japanese patients with metachromatic leukodystrophy.

Y. Eto, Y. Hasegawa, H. Kawame, 1993, DNA and cell biology.

Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel of 3552 Japanese individuals

K. Kinoshita, J. Yasuda, M. Nagasaki, 2019, Human Genetics.

Perinatal Findings of Seckel Syndrome: A Case Report of a Fetus Showing Primordial Dwarfism and Severe Microcephaly

Tomohiko Nakamura, A. Kikuchi, H. Kawame, 2008, Fetal Diagnosis and Therapy.

Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)

O. Migita, C. Tifft, W. Gahl, 2021, Journal of Medical Genetics.

Exome sequencing‐based identification of mutations in non‐syndromic genes among individuals with apparently syndromic features

K. Shirahige, Eriko Nishi, K. Masuda, 2016, American journal of medical genetics. Part A.

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome

H. Cavé, A. Verloes, H. Ohashi, 2008, Journal of Human Genetics.

[Roberts-SC phocomelia syndrome].

H. Kawame, 2000, Ryoikibetsu shokogun shirizu.

[Carrier testing].

H. Kawame, 2005, Nihon rinsho. Japanese journal of clinical medicine.

Polymicrogyria is an uncommon manifestation in 22q11.2 deletion syndrome.

H. Kawame, A. Akatsuka, Y. Ochiai, 2000, American journal of medical genetics.

Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.

K. Nakayama, T. Ogata, T. Ogura, 2013, American journal of human genetics.

[Craniodiaphyseal dysplasia].

H. Kawame, 2001, Ryoikibetsu shokogun shirizu.

Risk of major congenital malformations associated with first‐trimester exposure to propulsives: A health administrative database study in Japan

S. Kuriyama, H. Nishigori, N. Yaegashi, 2021, Pharmacoepidemiology and drug safety.