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Human Genome Variation

IF1.3
Papers29
Citations
Journal Papers 29
Publication Date
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Clinical, genetics and in silico analysis of a novel BSCL2 variant in a patient with CGL2 from Iranian Azeri Turkish ethnic group: expanding the genotypic spectrum through a comparative review
deleteHuman Genome Variation
IF1.3
delete2026-05-04
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deleteBazmi, Hadi; Jabbarpour, Neda; Asghari, Asma Alizadeh; Bonaydi, Morteza; Motamedi, Akram; Barzegar, Mohammad
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Carney complex with PRKAR1A variant and breast/fibrolamellar carcinomas
deleteHuman Genome Variation
IF1.3
delete2026-05-01
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PREAI
deleteColares Perez, Abilio Alonso; Pinheiro Correia, Laura; Ponte Conrado, Regis; Malheiro, Vinicius Nascimento; Hirth, Carlos Gustavo; Magno Cavalcante, Diane Isabelle; Rego Coelho, Gustavo; Pinto Quidute, Ana Rosa; Calheiros Campelo Maia, Danielle
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Pontocerebellar hypoplasia type 9 with a novel combination of compound heterozygous variants in AMPD2
deleteHuman Genome Variation
IF1.3
delete2026-04-23
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deleteDohi, Shuhei; Hotta, Junko; Ito, Kosuke; Yamashita, Tomoyo; Ono, Chie; Sakuma, Satoru; Komatsu, Kazuyuki; Inoue, Ken; Saitsu, Hirotomo; Hamazaki, Takashi; Seto, Toshiyuki
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Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant
deleteHuman Genome Variation
IF1.3
delete2026-04-14
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deleteIwaki, Toshihiko; Nishio, Yosuke; Takagi, Sachiyo; Fujii, Keiichiro; Fujimoto, Masanori; Sato, Emi; Nakamura, Yuji; Ieda, Daisuke; Negishi, Yutaka; Hattori, Ayako; Ogi, Tomoo; Saitoh, Shinji
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Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
deleteHuman Genome Variation
IF1.3
delete2026-04-14
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deleteKumar, Sheetal; Ahmed, Sohail; Incardona, Pietro; Cesarato, Nicole; Zhang, Yue; Natale, Monica Ines; Khan, Muhammad Javed; Valinotto, Laura; Ullah, Kifayat; Ahmad, Wasim; Irurzun, Ines; Krawitz, Peter M.; Liang, Bo; Betz, Regina C.
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ChatTogovar: a TogoVar-based retrieval-augmented generation system for precise genomic variant interpretation
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IF1.3
delete2026-04-09
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PREAI
deleteMitsuhashi, Nobutaka; Fujiwara, Toyofumi; Yamaguchi, Atsuko
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Clinical features of syndromic microphthalmia in two novel RARB variants
deleteHuman Genome Variation
IF1.3
delete2026-04-01
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PREAI
deleteKoyanagi, Yoshito; Morikawa-Anzai, Hazuki; Yoshida, Tomoyo; Tominaga, Makiko; Abe, Yuichi; Kosaki, Rika; Matsubara, Keiko; Fukami, Maki; Nishina, Sachiko
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MSX1 variant causes nonsyndromic tooth agenesis in a Japanese patient
deleteHuman Genome Variation
IF1.3
delete2026-04-01
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deleteSano, Yasuto; Ando, Michiyo; Tokuyama-Toda, Reiko; Ota, Akiko; Machida, Junichiro; Satomura, Kazuhito; Goto, Mitsuo; Tokita, Yoshihito
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Heterozygous frameshift KMT2A variant in a patient with Wiedemann-Steiner syndrome
deleteHuman Genome Variation
IF1.3
delete2026-03-17
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PREAI
deleteHirai, Sawako; Mitsubuchi, Hiroshi; Matsumoto, Shirou
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Non-pterygium Escobar syndrome from compound-heterozygous CHRNG variants: genotype-phenotype insights
deleteHuman Genome Variation
IF1.3
delete2026-03-14
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PREAI
deleteKido, Jun; Ueno, Hiroe; Misumi, Yohei; Sugawara, Keishin; Saito, Suzuran; Koshimizu, Eriko; Matsumoto, Naomichi; Ueda, Mitsuharu; Nakamura, Kimitoshi
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ZMYND11 p.Arg600Trp variant associated with a distinctive neurodevelopmental phenotype
deleteHuman Genome Variation
IF1.3
delete2026-03-12
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deleteYoshimatsu, Hidetaka; Kido, Jun; Sawada, Takaaki; Sugawara, Keishin; Misumi, Yohei; Hayashi, Yukina; Fujita, Atsushi; Matsumoto, Naomichi; Ueda, Mitsuharu; Nakamura, Kimitoshi
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A novel loss-of-function mutation in MCMDC2 is associated with male infertility
deleteHuman Genome Variation
IF1.3
delete2026-03-12
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PREAI
deleteCohen, Ori; Abou, Florence; Waldenberg, Netanel; Gershoni, Moran; Kleiman, Sandra E.; Parvari, Ruti; Barak, Shlomi
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Novel nonsense variant of KIF11 in a patient with MCLMR
deleteHuman Genome Variation
IF1.3
delete2026-03-02
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PREAI
deleteOzaki, Yuko; Yokoi, Kyoko; Nakamura, Yasuhisa; Fujimoto, Masanori; Ishioka, Risako; Kasukabe, Kozue; Kato, Takenori; Saitoh, Shinji
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Population frequencies of thiopurine-related pharmacogenes in healthy individuals from Kosovo
deleteHuman Genome Variation
IF1.3
delete2026-02-27
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deletePasha, Flaka; Urbancic, Dunja; Gosheva, Gordana; Zhubi, Bukurije; Maliqi Qormemeti, Safete; Krasniqi, Shaip; Mlinaric-Rascan, Irena
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Submicroscopic 16q24.2-q24.3 deletion in a family with nonsyndromic short stature
deleteHuman Genome Variation
IF1.3
delete2026-01-26
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deleteNarita, Chisato; Utsunomiya, Hidekazu; Hamada, Junpei; Kageyama, Ikuko; Fukami, Maki; Nakamura, Akie
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Updated analysis of pathogenic variants in BRCA1/BRCA2 among the general Japanese population
deleteHuman Genome Variation
IF1.3
delete2026-01-21
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PREAI
deleteMariya, Tasuku; Idogawa, Masashi; Saito, Tsuyoshi; Nakase, Hiroshi; Tokino, Takashi; Sakurai, Akihiro
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Infantile hypophosphatasia in a Chinese patient: identification and characterization of novel compound heterozygous ALPL mutations
deleteHuman Genome Variation
IF1.3
delete2025-12-06
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deleteLi, Wenjuan; Zeng, Shujing; Jiang, Jun; Liu, Bin
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A novel PKD1 variant in a patient with very-early-onset ADPKD
deleteHuman Genome Variation
IF1.3
delete2025-11-22
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deleteKondoh, Tomomi; Ando, Takuma; Matsumoto, Yuji; Kumagai, Naonori; Tanaka, Yu; Morisada, Naoya; Nozu, Kandai; Ikezumi, Yohei
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Fontaine progeroid syndrome with neonatal mitochondrial disease
deleteHuman Genome Variation
IF1.3
delete2025-11-21
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deleteRiko, Mitsuhiko; Kawamoto, Daiki; Hirayama, Kentaro; Tsuchihashi, Tomoya; Suzuki, Takayuki; Sugimoto, Takuya; Okazaki, Yasushi; Murayama, Kei; Tokuhara, Daisuke
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A novel homozygous DST variant causes hereditary sensory and autonomic neuropathy in a Pakistani family
deleteHuman Genome Variation
IF1.3
delete2025-11-18
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deleteMunir, Asad; Frederiksen, Helen Nabiryo; Ali, Fawad; Shah, Sabawoon; Rashid, Abdur; Oreshkov, Sergey; Khan, Kashif; Shahzeb, Muhammad; Ullah, Inam; Rahman, Hamid Ur; Ullah, Mukhtar; Ansar, Muhammad; Rehman, Atta Ur
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