A recurrent synonymous L1CAM variant in a fetus with hydrocephalus by Ivan Šubrt, Tomáš Zavoral, Lukáš Strych, Monika Černá, Markéta Hejnalová, Pavla Komrsková, Jitka Tejcová

“…Human Genome Variation…”
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High-coverage whole-genome sequencing of a Jakun individual from the “Orang Asli” Proto-Malay subtribe from Peninsular Malaysia by Wai-Sum Yap, Alvin Cengnata, Woei-Yuh Saw, Thuhairah Abdul Rahman, Yik-Ying Teo, Renee Lay-Hong Lim, Boon-Peng Hoh

“…Human Genome Variation…”
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Comparative evaluation of SNVs, indels, and structural variations detected with short- and long-read sequencing data by Shunichi Kosugi, Chikashi Terao

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Ventriculosubgaleal shunt placement for hydrocephalus in osteogenesis imperfecta with novel compound heterozygous CRTAP variants by Shintaro Nakamura, Kyosuke Ibi, Hiroyuki Tanaka, Hirokazu Takami, Keita Okada, Nao Takasugi, Motohiro Kato, Naoto Takahashi, Takanobu Inoue

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A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiency by Naoko Nakatani, Akihiro Tamura, Hiroaki Hanafusa, Nanako Nino, Nobuyuki Yamamoto, Hiroyuki Awano, Yasuhiro Tanaka, Naoya Morisada, Suguru Uemura, Atsuro Saito, Daiichiro Hasegawa, Kandai Nozu, Yoshiyuki Kosaka

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Challenges in classifying human chromosomal heteromorphisms using banding cytogenetics: From controversial guidelines to the need for a universal scoring system by Sílvia Pires, Paula Jorge, Thomas Liehr, Natália Oliva-Teles

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CFAP43 variant in persistent respiratory symptoms after hematopoietic cell transplantation by Shun Nagasawa, Toyoki Nishimura, Ai Yamada, Sachiyo Kamimura, Masataka Ishimura, Hiroshi Moritake

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A mild case of Cockayne syndrome with a novel start-loss variant of ERCC8 by Taro Matsuoka, Takeshi Yoshida, Kengo Kora, Naoko Yano, Yoshihiro Taura, Takashi Nakamura, Takenori Tozawa, Jun Mori, Tomohiro Chiyonobu

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Rare coinheritance of hemoglobin vancleave with severe beta-thalassemia mutation in a patient with secondary erythrocytosis by Nur Aisyah Aziz, Nurul Hidayah Musa, Melina Mathews, Komalah Thevii Rajenderan, Faidatul Syazlin Abdul Hamid, Syahzuwan Hassan, Syahira Lazira Omar, Wan Nurul Afiqha Binti Wan Yusoff, Melanie Ling Binti Mohd Din, Nurul Amira Binti Jamaludin, Wan Rohani Wan Taib, Ezalia Esa, Norafiza Mohd Yasin

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A novel UBA1 gene mutation in a patient with infantile respiratory distress syndrome by Masafumi Miyata, Arisa Kojima, Yuri Kawai, Hidetoshi Uchida, Hiroko Boda, Naoko Ishihara, Hidehito Inagaki, Tetsushi Yoshikawa, Hiroki Kurahashi

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End-stage ADPKD with a low-frequency PKD1 mosaic variant accelerated by chemoradiotherapy by Hiroaki Hanafusa, Hiroshi Yamaguchi, Naoya Morisada, Ming Juan YE, Riki Matsumoto, Hiroaki Nagase, Kandai Nozu

“…Human Genome Variation…”
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A case of CDKL5 deficiency disorder with a novel intragenic multi-exonic duplication by Takato Akiba, Shino Shimada, Katsumi Imai, Satoru Takahashi

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Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report by Kenta Hanada, Yusuke Osaki, Ryosuke Miyamoto, Kohei Muto, Shotaro Haji, Keyoumu Nazere, Yuki Kuwano, Hiroyuki Morino, Yoshiteru Azuma, Satoko Miyatake, Naomichi Matsumoto, Yuishin Izumi

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Allele frequency of pathogenic variants causing acid sphingomyelinase deficiency and Gaucher disease in the general Japanese population by Shuhei Sako, Kimihiko Oishi, Hiroyuki Ida, Eri Imagawa

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Bilateral choroid plexus resection in a 9p hexasomy/tetrasomy mosaic patient by Rei Takada, Takenori Tozawa, Takumi Yamanaka, Masaharu Moroto, Tomoko Iehara, Tomohiro Chiyonobu

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Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder by Rina Shimomura, Tomoe Yanagishita, Kumiko Ishiguro, Minobu Shichiji, Takatoshi Sato, Keiko Shimojima Yamamoto, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Keiko Ishigaki, Satoru Nagata, Yoshihiro Asano, Toshiyuki Yamamoto

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Neonatal myoclonus in Bryant-Li-Bhoj syndrome associated with a novel H3F3A variant by Moemi Hojo, Noriko Soma, Kei Yamada, Yu Kobayashi, Masaki Miura, Hitomi Fujii, Hiromi Nyuzuki, Yosuke Nishio, Taichi Oso, Tomoo Ogi, Takeshi Ikeuchi, Jun Tohyama

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A novel DLG4 variant causes DLG4-related synaptopathy with intellectual regression by Sachi Tokunaga, Hideki Shimomura, Naoko Taniguchi, Kumiko Yanagi, Tadashi Kaname, Nobuhiko Okamoto, Yasuhiro Takeshima

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TACSTD2 in gelatinous drop-like corneal dystrophy: variant functional analysis and expression in the cornea after limbal stem cell transplantation by Liubov O. Skorodumova, Ekaterina N. Grafskaia, Daria D. Kharlampieva, Dmitry I. Maltsev, Tatiana V. Petrova, Alexandra V. Kanygina, Elena V. Fedoseeva, Pavel V. Makarov, Boris E. Malyugin

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Investigation of a novel PROS1 splicing variant in a patient with protein S deficiency by Yo Niida, Wataru Fujita, Sumihito Togi, Hiroki Ura

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