Volume 6; Issue 1

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Human Genome Variation
Volume 6; Issue 1

Human Genome Variation

Volume 6; Issue 1

1

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

Iida, Aritoshi, Takeshita, Eri, Kosugi, Shunichi, Kamatani, Yoichiro, Momozawa, Yukihide, Kubo, Michiaki, Nakagawa, Eiji, Kurosawa, Kenji, Inoue, Ken, Goto, Yu-ichi

Journal:

Human Genome Variation

Year:

2019

Language:

english

File:

PDF, 563 KB

english, 2019

2

A new case of spastic paraplegia type 64 due to a missense mutation in the ENTPD1 gene

Mamelona, Jean, Crapoulet, Nicolas, Marrero, Alier

Journal:

Human Genome Variation

Year:

2019

Language:

english

File:

PDF, 551 KB

english, 2019

3

Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis

Kondo, Hiroyuki, Oku, Kazuma, Katagiri, Satoshi, Hayashi, Takaaki, Nakano, Tadashi, Iwata, Akiko, Kuniyoshi, Kazuki, Kusaka, Shunji, Hiyoshi, Atsushi, Uchio, Eiichi, Kondo, Mineo, Oishi, Noriko, Kamey

Journal:

Human Genome Variation

Year:

2019

File:

PDF, 344 KB

2019

4

Activation of TGF-β signaling in an aortic aneurysm in a patient with Loeys-Dietz syndrome caused by a novel loss-of-function variant of TGFBR1

Hara, Hironori, Takeda, Norifumi, Fujiwara, Takayuki, Yagi, Hiroki, Maemura, Sonoko, Kanaya, Tsubasa, Nawata, Kan, Morita, Hiroyuki, Komuro, Issei

Journal:

Human Genome Variation

Year:

2019

Language:

english

File:

PDF, 3.09 MB

english, 2019

5

Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis

Kondo, Hiroyuki, Oku, Kazuma, Katagiri, Satoshi, Hayashi, Takaaki, Nakano, Tadashi, Iwata, Akiko, Kuniyoshi, Kazuki, Kusaka, Shunji, Hiyoshi, Atsushi, Uchio, Eiichi, Kondo, Mineo, Oishi, Noriko, Kamey

Journal:

Human Genome Variation

Year:

2019

Language:

english

File:

PDF, 344 KB

english, 2019

6

A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome?

Altaraihi, M., Wadt, K., Ek, J., Gerdes, A. M., Ostergaard, E.

Journal:

Human Genome Variation

Year:

2019

Language:

english

File:

PDF, 452 KB

english, 2019

7

A novel variant in FN1 in a family with fibronectin glomerulopathy

Aslam, Nabeel, Singh, Anshika, Cortese, Cherise, Riegert-Johnson, Douglas L.

Journal:

Human Genome Variation

Year:

2019

Language:

english

File:

PDF, 642 KB

english, 2019

8

A novel splicing mutation in SLC9A6 in a boy with Christianson syndrome

Ieda, Daisuke, Hori, Ikumi, Nakamura, Yuji, Ohashi, Kei, Negishi, Yutaka, Hattori, Ayako, Arisaka, Atsuko, Hasegawa, Setsuko, Saitoh, Shinji

Journal:

Human Genome Variation

Year:

2019

File:

PDF, 685 KB

2019

9

A novel PTCH1 mutation in basal cell nevus syndrome with rare craniofacial features

Murata, Yuka, Kurosaka, Hiroshi, Ohata, Yasuhisa, Aikawa, Tomonao, Takahata, Sosuke, Fujii, Katsunori, Miyashita, Toshiyuki, Morita, Chisato, Inubushi, Toshihiro, Kubota, Takuo, Sakai, Norio, Ozono, K

Journal:

Human Genome Variation

Year:

2019

File:

PDF, 745 KB

2019

10

A novel compound heterozygous variant of ECHS1 identified in a Japanese patient with Leigh syndrome

Uchino, Shumpei, Iida, Aritoshi, Sato, Atsushi, Ishikawa, Keiko, Mimaki, Masakazu, Nishino, Ichizo, Goto, Yu-ichi

Journal:

Human Genome Variation

Year:

2019

Language:

english

File:

PDF, 584 KB

english, 2019

11

A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay

Ueno, Yuichi, Enokizono, Takashi, Fukushima, Hiroko, Ohto, Tatsuyuki, Imagawa, Kazuo, Tanaka, Mai, Sakai, Aiko, Suzuki, Hisato, Uehara, Tomoko, Takenouchi, Toshiki, Kosaki, Kenjiro, Takada, Hidetoshi

Journal:

Human Genome Variation

Year:

2019

Language:

english

File:

PDF, 672 KB

english, 2019

12

Discordant phenotype caused by CASK mutation in siblings with NF1

Murakami, Hiroaki, Kimura, Yuichi, Enomoto, Yumi, Tsurusaki, Yoshinori, Akahira-Azuma, Moe, Kuroda, Yukiko, Tsuji, Megumi, Goto, Tomohide, Kurosawa, Kenji

Journal:

Human Genome Variation

Year:

2019

Language:

english

File:

PDF, 1.13 MB

english, 2019

13

A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation

Chinen, Yasutsugu, Nakamura, Sadao, Kaneshi, Takuya, Nakayashiro, Mami, Yanagi, Kumiko, Kaname, Tadashi, Naritomi, Kenji, Nakanishi, Koichi

Journal:

Human Genome Variation

Year:

2019

Language:

english

File:

PDF, 547 KB

english, 2019

14

Clinical outcomes of two patients with a novel pathogenic variant in ASNS: response to asparagine supplementation and review of the literature

Sprute, Rosanne, Ardicli, Didem, Oguz, Kader Karli, Malenica-Mandel, Anna, Daimagüler, Hülya-Sevcan, Koy, Anne, Coskun, Turgay, Wang, Haicui, Topcu, Meral, Cirak, Sebahattin

Journal:

Human Genome Variation

Year:

2019

Language:

english

File:

PDF, 4.19 MB

english, 2019

15

Two closely spaced mutations in cis result in Ullrich congenital muscular dystrophy

Shimomura, Hideki, Lee, Tomoko, Tanaka, Yasuhiko, Awano, Hiroyuki, Itoh, Kyoko, Nishino, Ichizo, Takeshima, Yasuhiro

Journal:

Human Genome Variation

Year:

2019

Language:

english

File:

PDF, 574 KB

english, 2019

16

A new heterozygous compound mutation in the CTSA gene in galactosialidosis

Nakajima, Hideki, Ueno, Miki, Adachi, Kaori, Nanba, Eiji, Narita, Aya, Tsukimoto, Jun, Itoh, Kohji, Kawakami, Atushi

Journal:

Human Genome Variation

Year:

2019

Language:

english

File:

PDF, 693 KB

english, 2019

17

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

Nagasaki, Masao, Kuroki, Yoko, Shibata, Tomoko F., Katsuoka, Fumiki, Mimori, Takahiro, Kawai, Yosuke, Minegishi, Naoko, Hozawa, Atsushi, Kuriyama, Shinichi, Suzuki, Yoichi, Kawame, Hiroshi, Nagami, Fu

Journal:

Human Genome Variation

Year:

2019

Language:

english

File:

PDF, 1.87 MB

english, 2019

18

Is the population of Sado Island genetically close to the population of western Japan?

Misawa, Kazuharu, Watanabe, Hiroshi, Yokoseki, Akio, Wakasugi, Minako, Onodera, Osamu, Narita, Ichiei, Momotsu, Takeshi, Sato, Kenji, Endo, Naoto

Journal:

Human Genome Variation

Year:

2019

Language:

english

File:

PDF, 387 KB

english, 2019

19

A novel ABCC6 variant causative of pseudoxanthoma elasticum

Contrò, Gianluca, Tallerico, Rossana, Dattilo, Vincenzo, Fabiani, Fernanda, Enzo, Maria Vittoria, Hladnik, Uros, Dastoli, Stefano, Nisticò, Steven Paul, Colao, Emma, Perrotti, Nicola, Iuliano, Rodolfo

Journal:

Human Genome Variation

Year:

2019

Language:

english

File:

PDF, 877 KB

english, 2019

20

A girl with CLOVES syndrome with a recurrent PIK3CA somatic mutation and pancreatic steatosis

Hanafusa, Hiroaki, Morisada, Naoya, Nomura, Tadashi, Kobayashi, Daisuke, Akasaka, Yoshinobu, Ye, Ming Juan, Nozu, Kandai, Nishimura, Noriyuki, Iijima, Kazumoto, Nakao, Hideto

Journal:

Human Genome Variation

Year:

2019

Language:

english

File:

PDF, 994 KB

english, 2019

21

HLA-VBSeq v2: improved HLA calling accuracy with full-length Japanese class-I panel

Wang, Yen-Yen, Mimori, Takahiro, Khor, Seik-Soon, Gervais, Olivier, Kawai, Yosuke, Hitomi, Yuki, Tokunaga, Katsushi, Nagasaki, Masao

Journal:

Human Genome Variation

Year:

2019

Language:

english

File:

PDF, 325 KB

english, 2019

22

3.5KJPNv2: an allele frequency panel of 3552 Japanese individuals including the X chromosome

Tadaka, Shu, Katsuoka, Fumiki, Ueki, Masao, Kojima, Kaname, Makino, Satoshi, Saito, Sakae, Otsuki, Akihito, Gocho, Chinatsu, Sakurai-Yageta, Mika, Danjoh, Inaho, Motoike, Ikuko N., Yamaguchi-Kabata, Y

Journal:

Human Genome Variation

Year:

2019

Language:

english

File:

PDF, 872 KB

english, 2019

23

3.5KJPNv2: an allele frequency panel of 3552 Japanese individuals including the X chromosome

Tadaka, Shu, Katsuoka, Fumiki, Ueki, Masao, Kojima, Kaname, Makino, Satoshi, Saito, Sakae, Otsuki, Akihito, Gocho, Chinatsu, Sakurai-Yageta, Mika, Danjoh, Inaho, Motoike, Ikuko N., Yamaguchi-Kabata, Y

Journal:

Human Genome Variation

Year:

2019

File:

PDF, 872 KB

2019

24

Breakpoint junction features of seven DMD deletion mutations

Keegan, Niall P., Wilton, Steve D., Fletcher, Sue

Journal:

Human Genome Variation

Year:

2019

Language:

english

File:

PDF, 1.49 MB

english, 2019

25

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

Tominaga, Makiko, Hamanoue, Satoshi, Goto, Hiroaki, Saito, Toshiyuki, Nagai, Jun-ichi, Masuno, Mitsuo, Umeda, You, Kurosawa, Kenji

Journal:

Human Genome Variation

Year:

2019

Language:

english

File:

PDF, 793 KB

english, 2019

26

Two pedigrees with arrhythmogenic right ventricular cardiomyopathy linked with R49H and F531C mutation in DSG2

Chen, Xuepin, Peng, Hui, Zheng, Chenqing, Zhang, Hongmei, Yan, Chao, Ma, Huihui, Dai, Xiafei, Li, Xiaoping

Journal:

Human Genome Variation

Year:

2019

Language:

english

File:

PDF, 706 KB

english, 2019

27

A novel mutation in gelatinous drop-like corneal dystrophy and functional analysis

Nagahara, Yukiko, Tsujikawa, Motokazu, Takigawa, Toru, Xu, Peng, Kai, Chifune, Kawasaki, Satoshi, Nakatsukasa, Mina, Inatomi, Tsutomu, Kinoshita, Shigeru, Nishida, Kohji

Journal:

Human Genome Variation

Year:

2019

Language:

english

File:

PDF, 996 KB

english, 2019

28

Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variants

Mawatari, Go, Fujinami, Kaoru, Liu, Xiao, Yang, Lizhu, Yokokawa, Yu-Fujinami, Komori, Shiori, Ueno, Shinji, Terasaki, Hiroko, Katagiri, Satoshi, Hayashi, Takaaki, Kuniyoshi, Kazuki, Miyake, Yozo, Tsun

Journal:

Human Genome Variation

Year:

2019

Language:

english

File:

PDF, 4.49 MB

english, 2019

29

Novel missense variants in the RNF213 gene from a European family with Moyamoya disease

Gagunashvili, Andrey N., Ocaka, Louise, Kelberman, Daniel, Munot, Pinki, Bacchelli, Chiara, Beales, Philip L., Ganesan, Vijeya

Journal:

Human Genome Variation

Year:

2019

Language:

english

File:

PDF, 604 KB

english, 2019

30

Clinical characteristics with long-term follow-up of four Okinawan families with moderate hearing loss caused by an OTOG variant

Ganaha, Akira, Kaname, Tadashi, Yanagi, Kumiko, Tono, Tetsuya, Higa, Teruyuki, Suzuki, Mikio

Journal:

Human Genome Variation

Year:

2019

Language:

english

File:

PDF, 3.26 MB

english, 2019

31

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

Ohashi, Ikuko, Enomoto, Yumi, Naruto, Takuya, Tsurusaki, Yoshinori, Kuroda, Yukiko, Ishikawa, Hiroshi, Ohyama, Makiko, Aida, Noriko, Nishimura, Gen, Kurosawa, Kenji

Journal:

Human Genome Variation

Year:

2019

Language:

english

File:

PDF, 689 KB

english, 2019

32

Targeted next-generation sequencing identified a known EMD mutation in a Chinese patient with Emery-Dreifuss muscular dystrophy

Dai, Xiafei, Zheng, Chenqing, Chen, Xuepin, Tang, Yibin, Zhang, Hongmei, Yan, Chao, Ma, Huihui, Li, Xiaoping

Journal:

Human Genome Variation

Year:

2019

Language:

english

File:

PDF, 487 KB

english, 2019

33

Novel SLC20A2 variant in a Japanese patient with idiopathic basal ganglia calcification-1 (IBGC1) associated with dopa-responsive parkinsonism

Ichikawa, Yaeko, Tanaka, Masaki, Kurita, Eriko, Nakajima, Masanori, Tanaka, Masaki, Oishi, Chizuko, Goto, Jun, Tsuji, Shoji, Chiba, Atsuro

Journal:

Human Genome Variation

Year:

2019

Language:

english

File:

PDF, 1.43 MB

english, 2019

34

A novel CUL4B splice site variant in a young male exhibiting less pronounced features

Nakamura, Yuji, Okuno, Yusuke, Muramatsu, Hideki, Kawai, Tomoko, Satou, Kazuhito, Ieda, Daisuke, Hori, Ikumi, Ohashi, Kei, Negishi, Yutaka, Hattori, Ayako, Takahashi, Yoshiyuki, Kojima, Seiji, Saitoh,

Journal:

Human Genome Variation

Year:

2019

Language:

english

File:

PDF, 782 KB

english, 2019

35

Rapid screening of copy number variations in STRC by droplet digital PCR in patients with mild-to-moderate hearing loss

Ito, Taku, Kawashima, Yoshiyuki, Fujikawa, Taro, Honda, Keiji, Makabe, Ayane, Kitamura, Ken, Tsutsumi, Takeshi

Journal:

Human Genome Variation

Year:

2019

Language:

english

File:

PDF, 886 KB

english, 2019

36

Retinal structure in Leber’s congenital amaurosis caused by RPGRIP1 mutations

Miyamichi, Daisuke, Nishina, Sachiko, Hosono, Katsuhiro, Yokoi, Tadashi, Kurata, Kentaro, Sato, Miho, Hotta, Yoshihiro, Azuma, Noriyuki

Journal:

Human Genome Variation

Year:

2019

Language:

english

File:

PDF, 4.06 MB

english, 2019

37

A founder deletion in the TRPM1 gene associated with congenital stationary night blindness and myopia is highly prevalent in Ashkenazi Jews

Hirsch, Yoel, Zeevi, David A., Lam, Byron L., Scher, Sholem Y., Bringer, Rachel, Cherki, Bitya, Cohen, Cadina C., Muallem, Hagit, Chiang, John (Pei-Wen), Pantrangi, Madhulatha, Ekstein, Josef, Johanss

Journal:

Human Genome Variation

Year:

2019

Language:

english

File:

PDF, 671 KB

english, 2019

38

A novel mutation in gelatinous drop-like corneal dystrophy and functional analysis

Nagahara, Yukiko, Tsujikawa, Motokazu, Takigawa, Toru, Xu, Peng, Kai, Chifune, Kawasaki, Satoshi, Nakatsukasa, Mina, Inatomi, Tsutomu, Kinoshita, Shigeru, Nishida, Kohji

Journal:

Human Genome Variation

Year:

2019

File:

PDF, 996 KB

2019

39

Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variants

Mawatari, Go, Fujinami, Kaoru, Liu, Xiao, Yang, Lizhu, Yokokawa, Yu-Fujinami, Komori, Shiori, Ueno, Shinji, Terasaki, Hiroko, Katagiri, Satoshi, Hayashi, Takaaki, Kuniyoshi, Kazuki, Miyake, Yozo, Tsun

Journal:

Human Genome Variation

Year:

2019

File:

PDF, 4.49 MB

2019

40

Novel missense variants in the RNF213 gene from a European family with Moyamoya disease

Gagunashvili, Andrey N., Ocaka, Louise, Kelberman, Daniel, Munot, Pinki, Bacchelli, Chiara, Beales, Philip L., Ganesan, Vijeya

Journal:

Human Genome Variation

Year:

2019

File:

PDF, 604 KB

2019

41

Clinical characteristics with long-term follow-up of four Okinawan families with moderate hearing loss caused by an OTOG variant

Ganaha, Akira, Kaname, Tadashi, Yanagi, Kumiko, Tono, Tetsuya, Higa, Teruyuki, Suzuki, Mikio

Journal:

Human Genome Variation

Year:

2019

File:

PDF, 3.26 MB

2019

42

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

Ohashi, Ikuko, Enomoto, Yumi, Naruto, Takuya, Tsurusaki, Yoshinori, Kuroda, Yukiko, Ishikawa, Hiroshi, Ohyama, Makiko, Aida, Noriko, Nishimura, Gen, Kurosawa, Kenji

Journal:

Human Genome Variation

Year:

2019

File:

PDF, 689 KB

2019

43

Targeted next-generation sequencing identified a known EMD mutation in a Chinese patient with Emery-Dreifuss muscular dystrophy

Dai, Xiafei, Zheng, Chenqing, Chen, Xuepin, Tang, Yibin, Zhang, Hongmei, Yan, Chao, Ma, Huihui, Li, Xiaoping

Journal:

Human Genome Variation

Year:

2019

File:

PDF, 487 KB

2019

44

Novel SLC20A2 variant in a Japanese patient with idiopathic basal ganglia calcification-1 (IBGC1) associated with dopa-responsive parkinsonism

Ichikawa, Yaeko, Tanaka, Masaki, Kurita, Eriko, Nakajima, Masanori, Tanaka, Masaki, Oishi, Chizuko, Goto, Jun, Tsuji, Shoji, Chiba, Atsuro

Journal:

Human Genome Variation

Year:

2019

File:

PDF, 1.43 MB

2019

45

A novel CUL4B splice site variant in a young male exhibiting less pronounced features

Nakamura, Yuji, Okuno, Yusuke, Muramatsu, Hideki, Kawai, Tomoko, Satou, Kazuhito, Ieda, Daisuke, Hori, Ikumi, Ohashi, Kei, Negishi, Yutaka, Hattori, Ayako, Takahashi, Yoshiyuki, Kojima, Seiji, Saitoh,

Journal:

Human Genome Variation

Year:

2019

File:

PDF, 782 KB

2019

46

Rapid screening of copy number variations in STRC by droplet digital PCR in patients with mild-to-moderate hearing loss

Ito, Taku, Kawashima, Yoshiyuki, Fujikawa, Taro, Honda, Keiji, Makabe, Ayane, Kitamura, Ken, Tsutsumi, Takeshi

Journal:

Human Genome Variation

Year:

2019

File:

PDF, 886 KB

2019

47

Retinal structure in Leber’s congenital amaurosis caused by RPGRIP1 mutations

Miyamichi, Daisuke, Nishina, Sachiko, Hosono, Katsuhiro, Yokoi, Tadashi, Kurata, Kentaro, Sato, Miho, Hotta, Yoshihiro, Azuma, Noriyuki

Journal:

Human Genome Variation

Year:

2019

File:

PDF, 4.06 MB

2019

48

A founder deletion in the TRPM1 gene associated with congenital stationary night blindness and myopia is highly prevalent in Ashkenazi Jews

Hirsch, Yoel, Zeevi, David A., Lam, Byron L., Scher, Sholem Y., Bringer, Rachel, Cherki, Bitya, Cohen, Cadina C., Muallem, Hagit, Chiang, John (Pei-Wen), Pantrangi, Madhulatha, Ekstein, Josef, Johanss

Journal:

Human Genome Variation

Year:

2019

File:

PDF, 671 KB

2019

49

A new family with a homozygous nonsense variant in NTHL1 further delineated the clinical phenotype of NTHL1-associated polyposis

Altaraihi, Mays, Gerdes, Anne-Marie, Wadt, Karin

Journal:

Human Genome Variation

Year:

2019

Language:

english

File:

PDF, 357 KB

english, 2019

50

Association of HLA class I and II gene polymorphisms with acetaminophen-related Stevens–Johnson syndrome with severe ocular complications in Japanese individuals

Ueta, Mayumi, Nakamura, Ryosuke, Saito, Yoshiro, Tokunaga, Katsushi, Sotozono, Chie, Yabe, Toshio, Aihara, Michiko, Matsunaga, Kayoko, Kinoshita, Shigeru

Journal:

Human Genome Variation

Year:

2019

Language:

english

File:

PDF, 301 KB

english, 2019

51

Exploration of intermediate-sized INDELs by next-generation multigene panel testing in Han Chinese patients with breast cancer

Hata, Chihiro, Nakaoka, Hirofumi, Xiang, Yu, Wang, Dong, Yang, Anping, Liu, Dahai, Liu, Fang, Zou, Qingfeng, Zheng, Ke, Inoue, Ituro, You, Hua

Journal:

Human Genome Variation

Year:

2019

Language:

english

File:

PDF, 537 KB

english, 2019

52

Becker muscular dystrophy caused by exon 2-truncating mutation of DMD

Ikeda, Tetsuhiko, Fujinaka, Hidehiko, Goto, Kiyoe, Nakajima, Takashi, Ozawa, Tetsuo

Journal:

Human Genome Variation

Year:

2019

Language:

english

File:

PDF, 437 KB

english, 2019

53

Exploration of intermediate-sized INDELs by next-generation multigene panel testing in Han Chinese patients with breast cancer

Hata, Chihiro, Nakaoka, Hirofumi, Xiang, Yu, Wang, Dong, Yang, Anping, Liu, Dahai, Liu, Fang, Zou, Qingfeng, Zheng, Ke, Inoue, Ituro, You, Hua

Journal:

Human Genome Variation

Year:

2019

File:

PDF, 537 KB

2019

54

Ten novel insertion/deletion variants in MECP2 identified in Japanese patients with Rett syndrome

Takeshita, Eri, Iida, Aritoshi, Abe-Hatano, Chihiro, Nakagawa, Eiji, Sasaki, Masayuki, Inoue, Ken, Goto, Yu-ichi

Journal:

Human Genome Variation

Year:

2019

Language:

english

File:

PDF, 675 KB

english, 2019

55

Narrowing down the region responsible for 1q23.3q24.1 microdeletion by identifying the smallest deletion

Hoshina, Takao, Seto, Toshiyuki, Shimono, Taro, Sakamoto, Hiroaki, Okuyama, Torayuki, Hamazaki, Takashi, Yamamoto, Toshiyuki

Journal:

Human Genome Variation

Year:

2019

Language:

english

File:

PDF, 621 KB

english, 2019

56

MGeND: an integrated database for Japanese clinical and genomic information

Kamada, Mayumi, Nakatsui, Masahiko, Kojima, Ryosuke, Nohara, Sachio, Uchino, Eiichiro, Tanishima, Shigeki, Sugiyama, Masaya, Kosaki, Kenjiro, Tokunaga, Katsushi, Mizokami, Masashi, Okuno, Yasushi

Journal:

Human Genome Variation

Year:

2019

Language:

english

File:

PDF, 1.97 MB

english, 2019

57

Ten novel insertion/deletion variants in MECP2 identified in Japanese patients with Rett syndrome

Takeshita, Eri, Iida, Aritoshi, Abe-Hatano, Chihiro, Nakagawa, Eiji, Sasaki, Masayuki, Inoue, Ken, Goto, Yu-ichi

Journal:

Human Genome Variation

Year:

2019

File:

PDF, 675 KB

2019

58

Narrowing down the region responsible for 1q23.3q24.1 microdeletion by identifying the smallest deletion

Hoshina, Takao, Seto, Toshiyuki, Shimono, Taro, Sakamoto, Hiroaki, Okuyama, Torayuki, Hamazaki, Takashi, Yamamoto, Toshiyuki

Journal:

Human Genome Variation

Year:

2019

File:

PDF, 621 KB

2019

59

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

Tsurusaki, Yoshinori, Kuroda, Yukiko, Yamanouchi, Yasuko, Kondo, Eisuke, Ouchi, Kazunobu, Kimura, Yuichi, Enomoto, Yumi, Aida, Noriko, Masuno, Mitsuo, Kurosawa, Kenji

Journal:

Human Genome Variation

Year:

2019

File:

PDF, 2.84 MB

2019

60

MGeND: an integrated database for Japanese clinical and genomic information

Kamada, Mayumi, Nakatsui, Masahiko, Kojima, Ryosuke, Nohara, Sachio, Uchino, Eiichiro, Tanishima, Shigeki, Sugiyama, Masaya, Kosaki, Kenjiro, Tokunaga, Katsushi, Mizokami, Masashi, Okuno, Yasushi

Journal:

Human Genome Variation

Year:

2019

File:

PDF, 1.97 MB

2019

61

KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup)

Hamaguchi, Yo, Aoki, Mikihiro, Watanabe, Satoshi, Mishima, Hiroyuki, Yoshiura, Koh-ichiro, Moriuchi, Hiroyuki, Dateki, Sumito

Journal:

Human Genome Variation

Year:

2019

File:

PDF, 639 KB

2019

62

Normal early development in siblings with novel compound heterozygous variants in ASPM

Moriwaki, Taro, Yamazaki, Narutoshi, So, Tetsumin, Kosuga, Motomichi, Miyazaki, Osamu, Narumi-Kishimoto, Yoko, Kaname, Tadashi, Nishimura, Gen, Okuyama, Torayuki, Fukuhara, Yasuyuki

Journal:

Human Genome Variation

Year:

2019

Language:

english

File:

PDF, 534 KB

english, 2019

63

A neonatal case of HDR syndrome and a vascular ring with a novel GATA3 mutation

Kusakawa, Moe, Sato, Takeshi, Hosoda, Ai, Araki, Eriko, Matsuzaki, Yohei, Yamashita, Yukio, Ishihara, Jun, Inagaki, Yoshinori, Uchida, Noboru, Ishii, Tomohiro, Hasegawa, Tomonobu

Journal:

Human Genome Variation

Year:

2019

Language:

english

File:

PDF, 439 KB

english, 2019