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Human Genome Variation

IF1.3
论文数29
被引数2
期刊论文 29
发表时间
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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伊朗阿塞拜疆土耳其族裔CGL2患者中一种新型BSCL2变异的临床、遗传学和计算机模拟分析：通过比较综述扩展基因型谱
deleteHuman Genome Variation
IF1.3
delete2026-05-04
delete0
deleteOAAI
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 carcinomasCarney复合征伴PRKAR1A变异及乳腺/纤维板层癌
deleteHuman Genome Variation
IF1.3
delete2026-05-01
delete0
deleteOAAI
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脊髓小脑发育不全9型，伴有AMPD2基因复合杂合新发变异的组合
deleteHuman Genome Variation
IF1.3
delete2026-04-23
delete0
deleteOAAI
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长读长RNA测序揭示IFAP综合征患者中一个复发性内含子MBTPS2变异导致广泛的转录本异构体变化
deleteHuman Genome Variation
IF1.3
delete2026-04-14
delete0
deleteOAAI
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 hotspotIFAP综合征中MBTPS2基因c.970+5G>A复发性变异：一个突变热点
deleteHuman Genome Variation
IF1.3
delete2026-04-14
delete0
deleteOAAI
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 interpretationChatTogoVar：基于TogoVar的检索增强生成系统，用于精确的基因组变异解释
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IF1.3
delete2026-04-09
delete1
PREAI
deleteMitsuhashi, Nobutaka; Fujiwara, Toyofumi; Yamaguchi, Atsuko
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Clinical features of syndromic microphthalmia in two novel RARB variants综合征性小眼球在两种新型RARB变异中的临床特征
deleteHuman Genome Variation
IF1.3
delete2026-04-01
delete0
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 patientMSX1变异导致一名日本患者出现非综合征性牙齿发育不全
deleteHuman Genome Variation
IF1.3
delete2026-04-01
delete0
PREAI
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 syndromeWiedemann-Steiner综合征患者中的杂合移码KMT2A变异
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非翼状胬肉埃斯科巴尔综合征由复合杂合CHRNG变异引起：基因型-表型见解
deleteHuman Genome Variation
IF1.3
delete2026-03-14
delete0
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 phenotypeZMYND11 p.Arg600Trp变异与一种独特的神经发育表型相关
deleteHuman Genome Variation
IF1.3
delete2026-03-12
delete0
PREAI
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 infertilityMCMDC2基因的一个新型失活功能突变与男性不育相关
deleteHuman Genome Variation
IF1.3
delete2026-03-12
delete0
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 MCLMRKIF11基因中MCLMR患者的全新无义变异
deleteHuman Genome Variation
IF1.3
delete2026-03-02
delete0
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科索沃健康人群中的硫嘌呤相关药物基因的群体频率
deleteHuman Genome Variation
IF1.3
delete2026-02-27
delete0
PREAI
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一个具有非综合征性身材矮小的家族中发现的亚显微16q24.2-q24.3缺失
deleteHuman Genome Variation
IF1.3
delete2026-01-26
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deleteOAAI
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 populationBRCA1/BRCA2致病性变异在日本普通人群中的更新分析
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中国患者中的婴儿低磷酸酯酶症：新型复合杂合ALPL突变的鉴定与表征
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一位极早发型ADPKD患者中发现一种新型PKD1变异
deleteHuman Genome Variation
IF1.3
delete2025-11-22
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deleteOAAI
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 diseaseFontaine早衰综合征伴新生儿线粒体疾病
deleteHuman Genome Variation
IF1.3
delete2025-11-21
delete0
deleteOAAI
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一种新型的纯合子DST变异导致一个巴基斯坦家庭出现遗传性感觉和自主神经病变。
deleteHuman Genome Variation
IF1.3
delete2025-11-18
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deleteOAAI
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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