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PMC Full-Text Search Results

Items: 1 to 20 of 480

1.
In-frame deletion variant of ABCD1 in a sporadic case of adrenoleukodystrophy
Takashi Matsukawa, Atsushi Sudo, Toshiyuki Kakumoto, Akihito Hao, Mitsuhiro Kainaga, Hyangri Chang, Tatsuo Mano, Hiroyuki Ishiura, Jun Mitsui, Toshihiro Hayashi, Shinichi Morishita, Shoji Tsuji, Tatsushi Toda
Hum Genome Var. 2025; 12: 5. Published online 2025 Feb 28. doi: 10.1038/s41439-025-00309-z
PMCID:
PMC11871001
ArticlePDF–1.4M
2.
High-coverage whole-genome sequencing of a Jakun individual from the “Orang Asli” Proto-Malay subtribe from Peninsular Malaysia
Wai-Sum Yap, Alvin Cengnata, Woei-Yuh Saw, Thuhairah Abdul Rahman, Yik-Ying Teo, Renee Lay-Hong Lim, Boon-Peng Hoh
Hum Genome Var. 2025; 12: 4. Published online 2025 Jan 8. doi: 10.1038/s41439-024-00308-6
PMCID:
PMC11707147
ArticlePDF–1.6M
3.
A novel UBA1 gene mutation in a patient with infantile respiratory distress syndrome
Masafumi Miyata, Arisa Kojima, Yuri Kawai, Hidetoshi Uchida, Hiroko Boda, Naoko Ishihara, Hidehito Inagaki, Tetsushi Yoshikawa, Hiroki Kurahashi
Hum Genome Var. 2025; 12: 2. Published online 2025 Jan 6. doi: 10.1038/s41439-024-00307-7
PMCID:
PMC11704066
ArticlePDF–680K
4.
Four cardiomyopathy patients with a heterozygous DSG2 p.Arg119Ter variant
Takuya Sumida, Shou Ogawa, Shuichiro Higo, Yuki Kuramoto, Ryo Eto, Yoshihiko Ikeda, Congcong Sun, Junjun Li, Li Liu, Tomoka Tabata, Yoshihiro Asano, Mikio Shiba, Yasuhiro Akazawa, Daisuke Nakamura, Takafumi Oka, Tomohito Ohtani, Yasushi Sakata
Hum Genome Var. 2024; 11: 47. Published online 2024 Dec 20. doi: 10.1038/s41439-024-00304-w
PMCID:
PMC11661998
ArticlePDF–3.2M
5.
High-resolution genetic analysis of whole APC gene deletions: a report of two cases and patient characteristics
Hiroki Tanabe, Yasuyuki Koshizuka, Kazuyuki Tanaka, Kenji Takahashi, Masami Ijiri, Keitaro Takahashi, Katsuyoshi Ando, Nobuhiro Ueno, Shin Kashima, Takeo Sarashina, Kentaro Moriichi, Kenrokuro Mitsube, Yusuke Mizukami, Mikihiro Fujiya, Yoshio Makita
Hum Genome Var. 2024; 11: 46. Published online 2024 Dec 4. doi: 10.1038/s41439-024-00301-z
PMCID:
PMC11618449
ArticlePDF–1.6M
6.
Simultaneous surgery for gastrostomy and laryngotracheal separation in a patient with Tay‒Sachs disease
Masaharu Moroto, Uda Daisuke, Tomoya Yodoi, Yoshihiro Nitta, Yohei Sugimoto, Tomohiro Chiyonobu, Hiroyuki Yamada, Kayo Ozaki, Taichi Nakatani, Norio Sakai
Hum Genome Var. 2024; 11: 43. Published online 2024 Nov 29. doi: 10.1038/s41439-024-00300-0
PMCID:
PMC11604916
ArticlePDF–630K
7.
Genotypes and phenotypes of neurofibromatosis type 1 patients in Japan: A Hereditary Tumor Cohort Study
Mashu Futagawa, Tetsuya Okazaki, Eiji Nakata, Chika Fukano, Risa Osumi, Fumino Kato, Yusaku Urakawa, Hideki Yamamoto, Toshifumi Ozaki, Akira Hirasawa
Hum Genome Var. 2024; 11: 42. Published online 2024 Nov 26. doi: 10.1038/s41439-024-00299-4
PMCID:
PMC11599849
ArticlePDF–724K
8.
A case of CDKL5 deficiency disorder with a novel intragenic multi-exonic duplication
Takato Akiba, Shino Shimada, Katsumi Imai, Satoru Takahashi
Hum Genome Var. 2024; 11: 40. Published online 2024 Nov 8. doi: 10.1038/s41439-024-00296-7
PMCID:
PMC11544015
ArticlePDF–611K
9.
A mild case of Cockayne syndrome with a novel start-loss variant of ERCC8
Taro Matsuoka, Takeshi Yoshida, Kengo Kora, Naoko Yano, Yoshihiro Taura, Takashi Nakamura, Takenori Tozawa, Jun Mori, Tomohiro Chiyonobu
Hum Genome Var. 2024; 11: 39. Published online 2024 Nov 7. doi: 10.1038/s41439-024-00297-6
PMCID:
PMC11544238
ArticlePDF–918K
10.
Challenges in classifying human chromosomal heteromorphisms using banding cytogenetics: From controversial guidelines to the need for a universal scoring system
Sílvia Pires, Paula Jorge, Thomas Liehr, Natália Oliva-Teles
Hum Genome Var. 2024; 11: 38. Published online 2024 Oct 24. doi: 10.1038/s41439-024-00295-8
PMCID:
PMC11499882
ArticlePDF–594K
11.
Detecting adaptive changes in gene copy number distribution accompanying the human out-of-Africa expansion
Moritz Otto, Yichen Zheng, Paul Grablowitz, Thomas Wiehe
Hum Genome Var. 2024; 11: 37. Published online 2024 Sep 23. doi: 10.1038/s41439-024-00293-w
PMCID:
PMC11420239
ArticlePDF–2.0M
12.
Novel MLH1 nonsense variant in a patient with suspected Lynch syndrome
Nobue Takaiso, Issei Imoto, Toshihiko Matsumoto, Akiyo Yoshimura
Hum Genome Var. 2024; 11: 36. Published online 2024 Sep 17. doi: 10.1038/s41439-024-00294-9
PMCID:
PMC11405935
ArticlePDF–541K
13.
Genetic investigation of patients with autosomal recessive ataxia and identification of two novel variants in the SQSTM1 and SYNE1 genes
Diana Mokhtari, Mohammad Jahanpanah, Nasim Jabbari, Hamed Azari, Sana Davarnia, Haleh Mokaber, Sara Arish, Rasol Molatefi, Vahid Abbasi, Behzad Davarnia
Hum Genome Var. 2024; 11: 35. Published online 2024 Aug 30. doi: 10.1038/s41439-024-00292-x
PMCID:
PMC11364807
ArticlePDF–1.2M
14.
Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy
Takeshi Imai, Satomi Mitsuhashi, Kenji Isahaya, Soichiro Shibata, Yosuke Kawai, Yosuke Omae, Katsushi Tokunaga, NCBN Controls WGS Consortium, Yoshihisa Yamano
Hum Genome Var. 2024; 11: 34. Published online 2024 Aug 29. doi: 10.1038/s41439-024-00283-y
PMCID:
PMC11362149
ArticlePDF–803K
15.
Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia
Layla Masuda, Akihiro Hasegawa, Hiromi Kamura, Fuyuki Hasegawa, Michihiro Yamamura, Kosuke Taniguchi, Yuki Ito, Kenichiro Hata, Osamu Samura, Aikou Okamoto
Hum Genome Var. 2024; 11: 32. Published online 2024 Aug 26. doi: 10.1038/s41439-024-00290-z
PMCID:
PMC11345410
ArticlePDF–1.1M
16.
The APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosis
Shusuke Yagi, Ryosuke Miyamoto, Masayoshi Tasaki, Hiroyuki Morino, Ryuji Otani, Muneyuki Kadota, Takayuki Ise, Hiroki Yamazaki, Kenya Kusunose, Koji Yamaguchi, Hirotsugu Yamada, Takeshi Soeki, Tetsuzo Wakatsuki, Daiju Fukuda, Mitsuharu Ueda, Masataka Sata
Hum Genome Var. 2024; 11: 30. Published online 2024 Aug 16. doi: 10.1038/s41439-024-00288-7
PMCID:
PMC11329782
ArticlePDF–1.0M
17.
Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report
Kenta Hanada, Yusuke Osaki, Ryosuke Miyamoto, Kohei Muto, Shotaro Haji, Keyoumu Nazere, Yuki Kuwano, Hiroyuki Morino, Yoshiteru Azuma, Satoko Miyatake, Naomichi Matsumoto, Yuishin Izumi
Hum Genome Var. 2024; 11: 29. Published online 2024 Aug 15. doi: 10.1038/s41439-024-00287-8
PMCID:
PMC11324651
ArticlePDF–2.3M
18.
Investigating mobile element variations by statistical genetics
Shohei Kojima
Hum Genome Var. 2024; 11: 23. Published online 2024 May 30. doi: 10.1038/s41439-024-00280-1
PMCID:
PMC11140006
ArticlePDF–481K
19.
Characteristic craniofacial defects associated with a novel USP9X truncation mutation
Namiki Nagata, Hiroshi Kurosaka, Kotaro Higashi, Masaya Yamaguchi, Sayuri Yamamoto, Toshihiro Inubushi, Miho Nagata, Yasuki Ishihara, Ayumi Yonei, Yohei Miyashita, Yoshihiro Asano, Norio Sakai, Yasushi Sakata, Shigetada Kawabata, Takashi Yamashiro
Hum Genome Var. 2024; 11: 21. Published online 2024 May 16. doi: 10.1038/s41439-024-00277-w
PMCID:
PMC11099082
ArticlePDF–1.5M
20.
Rare coinheritance of hemoglobin vancleave with severe beta-thalassemia mutation in a patient with secondary erythrocytosis
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
Hum Genome Var. 2024; 11: 19. Published online 2024 Apr 23. doi: 10.1038/s41439-024-00275-y
PMCID:
PMC11039651
ArticlePDF–868K

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