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Research | 2 October 2020 | Open
Prenatal diagnosis of Fraser syndrome caused by novel variants of FREM2
- Shoko Ikeda
- , Chika Akamatsu
- , Akifumi Ijuin
- , Ami Nagashima
- , Megumi Sasaki
- , Akihiko Mochizuki
- , Hiromi Nagase
- , Yumi Enomoto
- , Yukiko Kuroda
- , Kenji Kurosawa
- & Hiroshi Ishikawa
Human Genome Variation 7 , 1–4

Rights & permissionsfor article Prenatal diagnosis of Fraser syndrome caused by novel variants of FREM2 . Opens in a new window.
Research | 25 September 2020 | Open
Arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a novel GRIN1 variant
Human Genome Variation 7 , 1–4

Rights & permissionsfor article Arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a novel GRIN1 variant . Opens in a new window.
Research | 7 August 2020 | Open
A Japanese girl with mild xeroderma pigmentosum group D neurological disease diagnosed using whole-exome sequencing
- Takayuki Yokoi
- , Yumi Enomoto
- , Tomoko Uehara
- , Kenjiro Kosaki
- & Kenji Kurosawa
Human Genome Variation 7 , 1–4

Rights & permissionsfor article A Japanese girl with mild xeroderma pigmentosum group D neurological disease diagnosed using whole-exome sequencing . Opens in a new window.
Research | 13 July 2020
Attitudes toward and current status of disclosure of secondary findings from next-generation sequencing: a nation-wide survey of clinical genetics professionals in Japan
- Mio Tsuchiya
- , Takahiro Yamada
- , Rina Akaishi
- , Haruka Hamanoue
- , Akira Hirasawa
- , Maki Hyodo
- , Issei Imoto
- , Tomoki Kosho
- , Kenji Kurosawa
- , Hiromi Murakami
- , Kaname Nakatani
- , Fumio Nomura
- , Aiko Sasaki
- , Kenji Shimizu
- , Mariko Tamai
- , Hiroshi Umemura
- , Atsushi Watanabe
- , Akiko Yoshida
- , Hiroshi Yoshihashi
- , Junko Yotsumoto
- & Shinji Kosugi
Journal of Human Genetics 65 , 1045–1053

Rights & permissionsfor article Attitudes toward and current status of disclosure of secondary findings from next-generation sequencing: a nation-wide survey of clinical genetics professionals in Japan . Opens in a new window.
Research | 18 May 2020 | Open
Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder
Human Genome Variation 7 , 1–3

Rights & permissionsfor article Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder . Opens in a new window.
Research | 4 February 2020 | Open
Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndrome
- Nao Takizaki
- , Yoshinori Tsurusaki
- , Kaoru Katsumata
- , Yumi Enomoto
- , Hiroaki Murakami
- , Koji Muroya
- , Hiroshi Ishikawa
- , Noriko Aida
- , Gen Nishimura
- & Kenji Kurosawa
Human Genome Variation 7 , 1–3

Rights & permissionsfor article Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndrome . Opens in a new window.
Research | 21 October 2019 | Open
Novel USP9X variants in two patients with X-linked intellectual disability
- Yoshinori Tsurusaki
- , Yukiko Kuroda
- , Yasuko Yamanouchi
- , Eisuke Kondo
- , Kazunobu Ouchi
- , Yuichi Kimura
- , Yumi Enomoto
- , Noriko Aida
- , Mitsuo Masuno
- & Kenji Kurosawa
Human Genome Variation 6 , 1–3

Rights & permissionsfor article Novel USP9X variants in two patients with X-linked intellectual disability . Opens in a new window.
Research | 26 August 2019 | Open
A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2
- Ikuko Ohashi
- , Yumi Enomoto
- , Takuya Naruto
- , Yoshinori Tsurusaki
- , Yukiko Kuroda
- , Hiroshi Ishikawa
- , Makiko Ohyama
- , Noriko Aida
- , Gen Nishimura
- & Kenji Kurosawa
Human Genome Variation 6 , 1–4

Rights & permissionsfor article A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2 . Opens in a new window.
Research | 8 August 2019 | Open
Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing RPL5
- Makiko Tominaga
- , Satoshi Hamanoue
- , Hiroaki Goto
- , Toshiyuki Saito
- , Jun-ichi Nagai
- , Mitsuo Masuno
- , You Umeda
- & Kenji Kurosawa
Human Genome Variation 6 , 1–3

Rights & permissionsfor article Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing RPL5 . Opens in a new window.
Research | 26 April 2019 | Open
Discordant phenotype caused by CASK mutation in siblings with NF1
- Hiroaki Murakami
- , Yuichi Kimura
- , Yumi Enomoto
- , Yoshinori Tsurusaki
- , Moe Akahira-Azuma
- , Yukiko Kuroda
- , Megumi Tsuji
- , Tomohide Goto
- & Kenji Kurosawa
Human Genome Variation 6 , 1–4

Rights & permissionsfor article Discordant phenotype caused by CASK mutation in siblings with NF1 . Opens in a new window.
Research | 5 December 2018 | Open
A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation
- Aritoshi Iida
- , Eri Takeshita
- , Shunichi Kosugi
- , Yoichiro Kamatani
- , Yukihide Momozawa
- , Michiaki Kubo
- , Eiji Nakagawa
- , Kenji Kurosawa
- , Ken Inoue
- & Yu-ichi Goto
Human Genome Variation 6 , 1–4

Rights & permissionsfor article A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation . Opens in a new window.
Research | 14 August 2018
Familial total anomalous pulmonary venous return with 15q11.2 (BP1-BP2) microdeletion
- Yukiko Kuroda
- , Ikuko Ohashi
- , Takuya Naruto
- , Kazumi Ida
- , Yumi Enomoto
- , Toshiyuki Saito
- , Jun-ichi Nagai
- , Sadamitsu Yanagi
- , Hideaki Ueda
- & Kenji Kurosawa
Journal of Human Genetics 63 , 1185–1188

Rights & permissionsfor article Familial total anomalous pulmonary venous return with 15q11.2 (BP1-BP2) microdeletion . Opens in a new window.
Research | 29 March 2018 | Open
Refining the clinical phenotype of Okur–Chung neurodevelopmental syndrome
Human Genome Variation 5 , 1–3

Rights & permissionsfor article Refining the clinical phenotype of Okur–Chung neurodevelopmental syndrome . Opens in a new window.
Research | 24 April 2018 | Open
Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly
- Yota Sato
- , Jun Shibasaki
- , Noriko Aida
- , Kazuya Hiiragi
- , Yuichi Kimura
- , Moe Akahira-Azuma
- , Yumi Enomoto
- , Yoshinori Tsurusaki
- & Kenji Kurosawa
Human Genome Variation 5 , 1–4

Rights & permissionsfor article Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly . Opens in a new window.
Research | 20 July 2018 | Open
Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy
Human Genome Variation 5 , 1–3

Rights & permissionsfor article Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy . Opens in a new window.
Research | 8 June 2018 | Open
Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction
- Shion Hayashi
- , Takayuki Yokoi
- , Chihiro Hatano
- , Yumi Enomoto
- , Yoshinori Tsurusaki
- , Takuya Naruto
- , Masahisa Kobayashi
- , Hiroyuki Ida
- & Kenji Kurosawa
Human Genome Variation 5 , 1–4

Rights & permissionsfor article Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction . Opens in a new window.
Research | 8 June 2017 | Open
A novel UBE2A mutation causes X-linked intellectual disability type Nascimento
- Yoshinori Tsurusaki
- , Ikuko Ohashi
- , Yumi Enomoto
- , Takuya Naruto
- , Jun Mitsui
- , Noriko Aida
- & Kenji Kurosawa
Human Genome Variation 4 , 1–4

Rights & permissionsfor article A novel UBE2A mutation causes X-linked intellectual disability type Nascimento . Opens in a new window.
Research | 5 June 2014
A case report of two brothers with ATR-X syndrome due to low maternal frequency of somatic mosaicism for an intragenic deletion in the ATRX
Journal of Human Genetics 59 , 408–410

Rights & permissionsfor article A case report of two brothers with ATR-X syndrome due to low maternal frequency of somatic mosaicism for an intragenic deletion in the ATRX . Opens in a new window.
Research | 1 September 2008
Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome
- Yoko Narumi
- , Yoko Aoki
- , Tetsuya Niihori
- , Masahiro Sakurai
- , Hélène Cavé
- , Alain Verloes
- , Kimio Nishio
- , Hirofumi Ohashi
- , Kenji Kurosawa
- , Nobuhiko Okamoto
- , Hiroshi Kawame
- , Seiji Mizuno
- , Tatsuro Kondoh
- , Marie-Claude Addor
- , Anne Coeslier-Dieux
- , Catherine Vincent-Delorme
- , Koichi Tabayashi
- , Masashi Aoki
- , Tomoko Kobayashi
- , Afag Guliyeva
- , Shigeo Kure
- & Yoichi Matsubara
Journal of Human Genetics 53 , 834–841

Rights & permissionsfor article Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome . Opens in a new window.
Research | 6 January 2008
Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes
- Masayo Kagami
- , Yoichi Sekita
- , Gen Nishimura
- , Masahito Irie
- , Fumiko Kato
- , Michiyo Okada
- , Shunji Yamamori
- , Hiroshi Kishimoto
- , Masahiro Nakayama
- , Yukichi Tanaka
- , Kentarou Matsuoka
- , Tsutomu Takahashi
- , Mika Noguchi
- , Yoko Tanaka
- , Kouji Masumoto
- , Takeshi Utsunomiya
- , Hiroko Kouzan
- , Yumiko Komatsu
- , Hirofumi Ohashi
- , Kenji Kurosawa
- , Kenjirou Kosaki
- , Anne C Ferguson-Smith
- , Fumitoshi Ishino
- & Tsutomu Ogata
Nature Genetics 40 , 237–242

Rights & permissionsfor article Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes . Opens in a new window.
Research | 30 September 2010
Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies
- Shoko Komatsuzaki
- , Yoko Aoki
- , Tetsuya Niihori
- , Nobuhiko Okamoto
- , Raoul C M Hennekam
- , Saskia Hopman
- , Hirofumi Ohashi
- , Seiji Mizuno
- , Yoriko Watanabe
- , Hotaka Kamasaki
- , Ikuko Kondo
- , Nobuko Moriyama
- , Kenji Kurosawa
- , Hiroshi Kawame
- , Ryuhei Okuyama
- , Masue Imaizumi
- , Takeshi Rikiishi
- , Shigeru Tsuchiya
- , Shigeo Kure
- & Yoichi Matsubara
Journal of Human Genetics 55 , 801–809

Rights & permissionsfor article Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies . Opens in a new window.
Research | 1 July 1999
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
- , Yoko Sugio
- , Yuichi Fuyama
- , Yoshihiro Hayashi
- , Hideaki Suzuki
- , Kenji Kurosawa
- & Kihei Maekawa
Journal of Human Genetics 44 , 219–224

Rights & permissionsfor article 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 . Opens in a new window.
Research | 1 September 1996
A japanese patient with X-linked α-thalassemia/mental retardation syndrome: An additional case report
- Kenji Kurosawa
- , Masako Asoh
- , Akira Akatsuka
- , Tomoko Matsuo
- , Yukikatsu Ochiai
- & Kihei Maekawa
Journal of Human Genetics 41 , 329–332

Rights & permissionsfor article A japanese patient with X-linked α-thalassemia/mental retardation syndrome: An additional case report . Opens in a new window.
Research | 18 September 2005
Germline mutations in HRAS proto-oncogene cause Costello syndrome
- Yoko Aoki
- , Tetsuya Niihori
- , Hiroshi Kawame
- , Kenji Kurosawa
- , Hirofumi Ohashi
- , Yukichi Tanaka
- , Mirella Filocamo
- , Kumi Kato
- , Yoichi Suzuki
- , Shigeo Kure
- & Yoichi Matsubara
Nature Genetics 37 , 1038–1040

Rights & permissionsfor article Germline mutations in HRAS proto-oncogene cause Costello syndrome . Opens in a new window.
Correspondence | 1 October 1997
Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain
- Richard J. Gibbons
- , Satvinder Bachoo
- , David J. Picketts
- , Salim Aftimos
- , Bernhard Asenbauer
- , JoAnn Bergoffen
- , Susan A. Berry
- , Niklas Dahl
- , Alan Fryer
- , Kim Keppler
- , Kenji Kurosawa
- , Michael L. Levin
- , Mitsuo Masuno
- , Giovanni Neri
- , Mary Ella Pierpont
- , Sarah F. Slaney
- & Douglas R. Higgs
Nature Genetics 17 , 146–148

Rights & permissionsfor article Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain . Opens in a new window.
Research | 12 February 2006
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
- Tetsuya Niihori
- , Yoko Aoki
- , Yoko Narumi
- , Giovanni Neri
- , Hélène Cavé
- , Alain Verloes
- , Nobuhiko Okamoto
- , Raoul C M Hennekam
- , Gabriele Gillessen-Kaesbach
- , Dagmar Wieczorek
- , Maria Ines Kavamura
- , Kenji Kurosawa
- , Hirofumi Ohashi
- , Louise Wilson
- , Delphine Heron
- , Dominique Bonneau
- , Giuseppina Corona
- , Tadashi Kaname
- , Kenji Naritomi
- , Clarisse Baumann
- , Naomichi Matsumoto
- , Kumi Kato
- , Shigeo Kure
- & Yoichi Matsubara
Nature Genetics 38 , 294–296

Rights & permissionsfor article Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome . Opens in a new window.
Research | 3 April 2009
Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome
- Hideo Kuniba
- , Koh-ichiro Yoshiura
- , Tatsuro Kondoh
- , Hirofumi Ohashi
- , Kenji Kurosawa
- , Hidefumi Tonoki
- , Toshiro Nagai
- , Nobuhiko Okamoto
- , Mitsuhiro Kato
- , Yoshimitsu Fukushima
- , Tadashi Kaname
- , Kenji Naritomi
- , Tadashi Matsumoto
- , Hiroyuki Moriuchi
- , Tatsuya Kishino
- , Akira Kinoshita
- , Noriko Miyake
- , Naomichi Matsumoto
- & Norio Niikawa
Journal of Human Genetics 54 , 304–309

Rights & permissionsfor article Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome . Opens in a new window.
Research | 5 July 2019
Attitudes of clinical geneticists and certified genetic counselors to genome editing and its clinical applications: A nation-wide questionnaire survey in Japan
- Iku Taguchi
- , Takahiro Yamada
- , Rina Akaishi
- , Issei Imoto
- , Kenji Kurosawa
- , Kaname Nakatani
- , Fumio Nomura
- , Haruka Hamanoue
- , Maki Hyodo
- , Hiromi Murakami
- , Hiroshi Yoshihashi
- , Junko Yotsumoto
- & Shinji Kosugi
Journal of Human Genetics 64 , 945–954

Rights & permissionsfor article Attitudes of clinical geneticists and certified genetic counselors to genome editing and its clinical applications: A nation-wide questionnaire survey in Japan . Opens in a new window.
Research | 21 May 2018
Targeting G-quadruplex DNA as cognitive function therapy for ATR-X syndrome
- Norifumi Shioda
- , Yasushi Yabuki
- , Kouya Yamaguchi
- , Misaki Onozato
- , Yue Li
- , Kenji Kurosawa
- , Hideyuki Tanabe
- , Nobuhiko Okamoto
- , Takumi Era
- , Hiroshi Sugiyama
- , Takahito Wada
- & Kohji Fukunaga
Nature Medicine 24 , 802–813

Rights & permissionsfor article Targeting G-quadruplex DNA as cognitive function therapy for ATR-X syndrome . Opens in a new window.
Research | 7 January 2016
SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements
- Daniela Tiaki Uehara
- , Shin Hayashi
- , Nobuhiko Okamoto
- , Seiji Mizuno
- , Yasutsugu Chinen
- , Rika Kosaki
- , Tomoki Kosho
- , Kenji Kurosawa
- , Hiroshi Matsumoto
- , Hiroshi Mitsubuchi
- , Hironao Numabe
- , Shinji Saitoh
- , Yoshio Makita
- , Akira Hata
- , Issei Imoto
- & Johji Inazawa
Journal of Human Genetics 61 , 335–343

Rights & permissionsfor article SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements . Opens in a new window.
Research | 18 February 2015 | Open
Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami–Ogata syndrome)
European Journal of Human Genetics 23 , 1488–1498

Rights & permissionsfor article Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami–Ogata syndrome) . Opens in a new window.
Research | 18 August 2011
HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome
- Tetsuya Niihori
- , Yoko Aoki
- , Nobuhiko Okamoto
- , Kenji Kurosawa
- , Hirofumi Ohashi
- , Seiji Mizuno
- , Hiroshi Kawame
- , Johji Inazawa
- , Toshihiro Ohura
- , Hiroshi Arai
- , Shin Nabatame
- , Kiyoshi Kikuchi
- , Yoshikazu Kuroki
- , Masaru Miura
- , Toju Tanaka
- , Akira Ohtake
- , Isaku Omori
- , Kenji Ihara
- , Hiroyo Mabe
- , Kyoko Watanabe
- , Shinichi Niijima
- , Erika Okano
- , Hironao Numabe
- & Yoichi Matsubara
Journal of Human Genetics 56 , 707–715

Rights & permissionsfor article HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome . Opens in a new window.
Research | 28 October 2010
Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies
- Shin Hayashi
- , Issei Imoto
- , Yoshinori Aizu
- , Nobuhiko Okamoto
- , Seiji Mizuno
- , Kenji Kurosawa
- , Nana Okamoto
- , Shozo Honda
- , Satoshi Araki
- , Shuki Mizutani
- , Hironao Numabe
- , Shinji Saitoh
- , Tomoki Kosho
- , Yoshimitsu Fukushima
- , Hiroshi Mitsubuchi
- , Fumio Endo
- , Yasutsugu Chinen
- , Rika Kosaki
- , Torayuki Okuyama
- , Hirotaka Ohki
- , Hiroshi Yoshihashi
- , Masae Ono
- , Fumio Takada
- , Hiroaki Ono
- , Mariko Yagi
- , Hiroshi Matsumoto
- , Yoshio Makita
- , Akira Hata
- & Johji Inazawa
Journal of Human Genetics 56 , 110–124

Rights & permissionsfor article Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies . Opens in a new window.
Research | 1 April 2005
Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia
- Tetsuya Niihori
- , Yoko Aoki
- , Hirofumi Ohashi
- , Kenji Kurosawa
- , Tatsuro Kondoh
- , Satoshi Ishikiriyama
- , Hiroshi Kawame
- , Hotaka Kamasaki
- , Tsutomu Yamanaka
- , Fumio Takada
- , Kimio Nishio
- , Masahiro Sakurai
- , Hiroshi Tamai
- , Tatsuro Nagashima
- , Yoichi Suzuki
- , Shigeo Kure
- , Kunihiro Fujii
- , Masue Imaizumi
- & Yoichi Matsubara
Journal of Human Genetics 50 , 192–202

Rights & permissionsfor article Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia . Opens in a new window.

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Prenatal diagnosis of Fraser syndrome caused by novel variants of FREM2

Arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a novel GRIN1 variant

A Japanese girl with mild xeroderma pigmentosum group D neurological disease diagnosed using whole-exome sequencing

Attitudes toward and current status of disclosure of secondary findings from next-generation sequencing: a nation-wide survey of clinical genetics professionals in Japan

Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder

Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndrome

Novel USP9X variants in two patients with X-linked intellectual disability

A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2

Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing RPL5

Discordant phenotype caused by CASK mutation in siblings with NF1

A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation

Familial total anomalous pulmonary venous return with 15q11.2 (BP1-BP2) microdeletion

Refining the clinical phenotype of Okur–Chung neurodevelopmental syndrome

Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly

Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy

Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction

A novel UBE2A mutation causes X-linked intellectual disability type Nascimento

A case report of two brothers with ATR-X syndrome due to low maternal frequency of somatic mosaicism for an intragenic deletion in the ATRX

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

Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes

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

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

A japanese patient with X-linked α-thalassemia/mental retardation syndrome: An additional case report

Germline mutations in HRAS proto-oncogene cause Costello syndrome

Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome

Attitudes of clinical geneticists and certified genetic counselors to genome editing and its clinical applications: A nation-wide questionnaire survey in Japan

Targeting G-quadruplex DNA as cognitive function therapy for ATR-X syndrome

SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements

Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami–Ogata syndrome)

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

Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies

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

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