A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): A case report

by Jamal Manoochehri, Seyed Alireza Dastgheib, Hossein Jafari Khamirani, Maryam Mollaie, Zahra Sharifi, Sina Zoghi, Seyed Mohammad Bagher Tabei, Sanaz Mohammadi, Fatemeh Dehghanian, Zahra Farbod, Mehdi Dianatpour
Published 2021-08-01

The acrocentric part of der(Y)t(Y;acro)(q12;p1?2) contains D15Z1 sequences in the majority of cases

by Sigrid Fuchs, Jasmin Lisfeld, Stefanie Kankel, Luisa Person, Thomas Liehr
Published 2021-07-01

The case of a patient with MIRAGE syndrome with familial dysautonomia-like symptoms

by Yuki Kawashima-Sonoyama, Keisuke Okuno, Tomotsune Dohmoto, Kanako Tanase-Nakao, Satoshi Narumi, Noriyuki Namba
Published 2021-07-01

Clinical course of epilepsy and white matter abnormality linked to a novel DYRK1A variant

by Tetsuya Okazaki, Hiroyuki Yamada, Kaori Matsuura, Noriko Kasagi, Noriko Miyake, Naomichi Matsumoto, Kaori Adachi, Eiji Nanba, Yoshihiro Maegaki
Published 2021-07-01

Structural basis of ethnic-specific variants of PAX4 associated with type 2 diabetes

by Jun Hosoe, Ken Suzuki, Fuyuki Miya, Takashi Kato, Tatsuhiko Tsunoda, Yukinori Okada, Momoko Horikoshi, Nobuhiro Shojima, Toshimasa Yamauchi, Takashi Kadowaki
Published 2021-07-01

Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome

by Jong Seop Kim, Hyoungseok Jeon, Hyeran Lee, Jung Min Ko, Yonghwan Kim, Murim Choi, Gen Nishimura, Ok-Hwa Kim, Tae-Joon Cho
Published 2021-05-01

A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting

by Tomoe Yanagishita, Kaoru Eto, Keiko Yamamoto-Shimojima, Osamu Segawa, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Yasushi Sakata, Satoru Nagata, Toshiyuki Yamamoto
Published 2021-05-01

The Y chromosome ancestry marker R1b1b2: a surrogate of the SARS-CoV-2 population affinity

by Muntaser Ibrahim, Abdalhameed Salih
Published 2021-02-01

MCT8 deficiency in a patient with a novel frameshift variant in the SLC16A2 gene

by Kei Wakabayashi, Hitoshi Osaka, Karin Kojima, Taichi Imaizumi, Toshiyuki Yamamoto, Takanori Yamagata
Published 2021-02-01

Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants

by Takenori Tozawa, Akira Nishimura, Tamaki Ueno, Akane Shikata, Yoshihiro Taura, Takeshi Yoshida, Naoko Nakagawa, Takahito Wada, Shinji Kosugi, Tomoko Uehara, Toshiki Takenouchi, Kenjiro Kosaki, Tomohiro Chiyonobu
Published 2021-01-01

Prevalence of pharmacogenomic variants in 100 pharmacogenes among Southeast Asian populations under the collaboration of the Southeast Asian Pharmacogenomics Research Network (SEAP...

by Chakkaphan Runcharoen, Koya Fukunaga, Insee Sensorn, Nareenart Iemwimangsa, Sommon Klumsathian, Hang Tong, Nam Sy Vo, Ly Le, Tin Maung Hlaing, Myo Thant, Shamsul Mohd Zain, Zahurin Mohamed, Yuh-Fen Pung, Francis Capule, Jose Nevado, Catherine Lynn Silao, Zeina N. Al-Mahayri, Bassam R. Ali, Rika Yuliwulandari, Kinasih Prayuni, Hilyatuz Zahroh, Dzul Azri Mohamed Noor, Phonepadith Xangsayarath, Dalouny Xayavong, Sengchanh Kounnavong, Somphou Sayasone, Zoe Kordou, Ioannis Liopetas, Athina Tsikrika, Evangelia-Eirini Tsermpini, Maria Koromina, Christina Mitropoulou, George P. Patrinos, Aumpika Kesornsit, Angkana Charoenyingwattana, Sukanya Wattanapokayakit, Surakameth Mahasirimongkol, Taisei Mushiroda, Wasun Chantratita
Published 2021-02-01

Novel STAR gene variant in a patient with classic lipoid congenital adrenal hyperplasia and combined pituitary hormone deficiency

by Moritake Higa, Akiko Zaha, Akiko Takushi, Nami Morishima, Toyofumi Majikina, Takeshi Touma, Michio Shimabukuro, Hiroaki Masuzaki, Misa Honda, Tomonobu Hasegawa
Published 2021-02-01

NDNF variants are rare in patients with congenital hypogonadotropic hypogonadism

by Satoshi Tamaoka, Erina Suzuki, Atsushi Hattori, Tsutomu Ogata, Maki Fukami, Yuko Katoh-Fukui
Published 2021-02-01

Novel ARG1 variants identified in a patient with arginase 1 deficiency

by Katsuyuki Yokoi, Yoko Nakajima, Toshihiro Yasui, Makoto Yoshino, Tetsushi Yoshikawa, Hiroki Kurahashi, Tetsuya Ito
Published 2021-02-01

Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer

by Mike M. Moradian, Davit T. Babikyan, Sione Markarian, Jonny G. Petrosyan, Nare Avanesian, Tereza Arutunyan, Tamara F. Sarkisian
Published 2021-02-01

Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-ge...

by Shinichi Nagaoka, Yumi Yamaguchi-Kabata, Naomi Shiga, Masahito Tachibana, Jun Yasuda, Shu Tadaka, Gen Tamiya, Nobuo Fuse, Kengo Kinoshita, Shigeo Kure, Jun Murotsuki, Masayuki Yamamoto, Nobuo Yaegashi, Junichi Sugawara
Published 2021-01-01

A pediatric case of productive cough caused by novel variants in DNAH9

by Kazuhiko Takeuchi, Yifei Xu, Satoru Ogawa, Makoto Ikejiri, Kaname Nakatani, Shimpei Gotoh, Satoko Usui, Sawako Masuda, Mizuho Nagao, Takao Fujisawa
Published 2021-01-01

Novel TNFAIP3 microdeletion in a girl with infantile-onset inflammatory bowel disease complicated by a severe perianal lesion

by Kosuke Taniguchi, Mikihiro Inoue, Katsuhiro Arai, Keiichi Uchida, Osuke Migita, Yui Akemoto, Junya Hirayama, Ichiro Takeuchi, Hirotaka Shimizu, Kenichiro Hata
Published 2021-01-01

Expanding the known phenotype of Mullegama–Klein–Martinez syndrome in male patients

by Fiona Freyberger, Tomislav Kokotović, Goran Krnjak, Sanda Huljev Frković, Vanja Nagy
Published 2021-09-01

Identification of three novel TCOF1 mutations in patients with Treacher Collins Syndrome

by Bożena Anna Marszałek-Kruk, Piotr Wójcicki
Published 2021-09-01