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- [31] Heterozygous loss-of-function DHX9 variants are associated with neurodevelopmental disorders: Human genetic and experimental evidencesEUROPEAN JOURNAL OF MEDICAL GENETICS, 2023, 66 (08)Yamada, Mamiko论文数: 0 引用数: 0 h-index: 0机构: Keio Univ, Ctr Med Genet, Sch Med, Tokyo, Japan Keio Univ, Ctr Med Genet, Sch Med, Tokyo, JapanNitta, Yohei论文数: 0 引用数: 0 h-index: 0机构: Niigata Univ, Brain Res Inst, Niigata, Japan Keio Univ, Ctr Med Genet, Sch Med, Tokyo, Japan论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Miya, Fuyuki论文数: 0 引用数: 0 h-index: 0机构: Keio Univ, Ctr Med Genet, Sch Med, Tokyo, Japan Keio Univ, Ctr Med Genet, Sch Med, Tokyo, Japan论文数: 引用数: h-index:机构:Tamura, Masaru论文数: 0 引用数: 0 h-index: 0机构: RIKEN BioResource Res Ctr, Mouse Phenotype Anal Div, Tsukuba, Ibaraki, Japan Keio Univ, Ctr Med Genet, Sch Med, Tokyo, JapanAyabe, Shinya论文数: 0 引用数: 0 h-index: 0机构: RIKEN BioResource Res Ctr, Expt Anim Div, Tsukuba, Ibaraki, Japan Keio Univ, Ctr Med Genet, Sch Med, Tokyo, JapanYoshiki, Atsushi论文数: 0 引用数: 0 h-index: 0机构: RIKEN BioResource Res Ctr, Expt Anim Div, Tsukuba, Ibaraki, Japan Keio Univ, Ctr Med Genet, Sch Med, Tokyo, JapanMaeno, Akiteru论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Genet, Cell Architecture Lab, Mishima, Shizuoka, Japan Keio Univ, Ctr Med Genet, Sch Med, Tokyo, JapanSaga, Yumiko论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Genet, Dept Gene Funct & Phen, Mammalian Dev Lab, Mishima, Shizuoka, Japan Keio Univ, Ctr Med Genet, Sch Med, Tokyo, JapanFuruse, Tamio论文数: 0 引用数: 0 h-index: 0机构: Keio Univ, Ctr Med Genet, Sch Med, Tokyo, JapanYamada, Ikuko论文数: 0 引用数: 0 h-index: 0机构: RIKEN BioResource Res Ctr, Mouse Phenotype Anal Div, Tsukuba, Ibaraki, Japan Keio Univ, Ctr Med Genet, Sch Med, Tokyo, JapanOkamoto, Nobuhiko论文数: 0 引用数: 0 h-index: 0机构: Osaka Womens & Childrens Hosp, Dept Med Genet, Osaka, Japan Keio Univ, Ctr Med Genet, Sch Med, Tokyo, JapanKosaki, Kenjiro论文数: 0 引用数: 0 h-index: 0机构: Keio Univ, Ctr Med Genet, Sch Med, Tokyo, Japan Keio Univ, Ctr Med Genet, Sch Med, Tokyo, JapanSugie, Atsushi论文数: 0 引用数: 0 h-index: 0机构: Keio Univ, Ctr Med Genet, Sch Med, Tokyo, Japan Niigata Univ, Brain Res Inst, Niigata, Japan Keio Univ, Ctr Med Genet, Sch Med, Tokyo, Japan
- [32] A Maternal Loss-of-Function Variant in KHDC3L Gene Causes a Range of Adverse Pregnancy Outcomes: A Case ReportMOLECULAR GENETICS & GENOMIC MEDICINE, 2025, 13 (01):Anvar, Zahra论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Obstet & Gynecol, Houston, TX USA Texas Childrens Hosp, Duncan Neurol Res Inst, Houston, TX USA Baylor Coll Med, Dept Obstet & Gynecol, Houston, TX USA论文数: 引用数: h-index:机构:Jahromi, Bahia Namavar论文数: 0 引用数: 0 h-index: 0机构: Shiraz Univ Med Sci, Infertil Res Ctr, Shiraz, Iran Shiraz Univ Med Sci, Sch Med Sci, Dept Obstet & Gynecol, Shiraz, Iran Baylor Coll Med, Dept Obstet & Gynecol, Houston, TX USARiccio, Andrea论文数: 0 引用数: 0 h-index: 0机构: Univ Campania Luigi Vanvitelli, Dept Environm Biol & Pharmaceut Sci & Technol DiST, Caserta, Italy Inst Genet & Biophys IGB Adriano Buzzati Traverso, CNR, Naples, Italy Baylor Coll Med, Dept Obstet & Gynecol, Houston, TX USANasr-Esfahani, Mohammad Hossein论文数: 0 引用数: 0 h-index: 0机构: Royan Inst Biotechnol, ACECR, Reprod Biomed Res Ctr, Dept Anim Biotechnol, Esfahan, Iran Baylor Coll Med, Dept Obstet & Gynecol, Houston, TX USACubellis, Maria Vittoria论文数: 0 引用数: 0 h-index: 0机构: Univ Napoli Federico II, Dept Biol, Naples, Italy Baylor Coll Med, Dept Obstet & Gynecol, Houston, TX USA
- [33] Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defectsBRAIN, 2023, 146 (04) : 1373 - 1387AlAbdi, Lama论文数: 0 引用数: 0 h-index: 0机构: King Saud Univ, Coll Sci, Dept Zool, Riyadh 11362, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Ctr Genom Med, Dept Translat Genom, Riyadh 11564, Saudi Arabia King Saud Univ, Coll Sci, Dept Zool, Riyadh 11362, Saudi ArabiaDesbois, Muriel论文数: 0 引用数: 0 h-index: 0机构: Seattle Childrens Res Inst, Ctr Integrat Brain Res, Seattle, WA 98101 USA King Saud Univ, Coll Sci, Dept Zool, Riyadh 11362, Saudi ArabiaRusnac, Domnita-Valeria论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pharmacol, Sch Med, Seattle, WA 98195 USA Univ Washington, Howard Hughes Med Inst, Dept Pharmacol, Seattle, WA 98195 USA King Saud Univ, Coll Sci, Dept Zool, Riyadh 11362, Saudi ArabiaSulaiman, Raashda A.论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh 11564, Saudi Arabia King Saud Univ, Coll Sci, Dept Zool, Riyadh 11362, Saudi ArabiaRosenfeld, Jill A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA King Saud Univ, Coll Sci, Dept Zool, Riyadh 11362, Saudi ArabiaLalani, Seema论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA King Saud Univ, Coll Sci, Dept Zool, Riyadh 11362, Saudi ArabiaMurdock, David R.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA King Saud Univ, Coll Sci, Dept Zool, Riyadh 11362, Saudi ArabiaBurrage, Lindsay C.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA King Saud Univ, Coll Sci, Dept Zool, Riyadh 11362, Saudi ArabiaAu, Ping Yee Billie论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Alberta Childrens Hosp Res Inst, Cumming Sch Med, Dept Med Genet, Calgary, AB T2N 4N1, Canada King Saud Univ, Coll Sci, Dept Zool, Riyadh 11362, Saudi ArabiaTowner, Shelley论文数: 0 引用数: 0 h-index: 0机构: Univ Virginia, Pediat Genet, Charlottesville, VA 22903 USA King Saud Univ, Coll Sci, Dept Zool, Riyadh 11362, Saudi ArabiaWilson, William G.论文数: 0 引用数: 0 h-index: 0机构: Univ Virginia, Pediat Genet, Charlottesville, VA 22903 USA King Saud Univ, Coll Sci, Dept Zool, Riyadh 11362, Saudi ArabiaWong, Lawrence论文数: 0 引用数: 0 h-index: 0机构: Northern Calif Kaiser Permanente, Dept Genet, M-S JMB 10,1900 Ninth Ave, Oakland, CA 94611 USA King Saud Univ, Coll Sci, Dept Zool, Riyadh 11362, Saudi ArabiaBrunet, Theresa论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, Sch Med, Klinikum Rechts Isar, D-81675 Munich, Germany German Res Ctr Environm Hlth, Inst Neurogenom ING, Helmholtz Zentrum Munchen, D-85764 Neuherberg, Germany King Saud Univ, Coll Sci, Dept Zool, Riyadh 11362, Saudi ArabiaStrobl-Wildemann, Gertrud论文数: 0 引用数: 0 h-index: 0机构: MVZ Humangenet Ulm, Dept Human Genet, D-89073 Ulm, Germany King Saud Univ, Coll Sci, Dept Zool, Riyadh 11362, Saudi ArabiaBurton, Jennifer E.论文数: 0 引用数: 0 h-index: 0机构: Univ Illinois, Dept Genet, Coll Med Peoria, Peoria, IL 61605 USA King Saud Univ, Coll Sci, Dept Zool, Riyadh 11362, Saudi ArabiaHoganson, George论文数: 0 引用数: 0 h-index: 0机构: Univ Illinois, Dept Genet, Coll Med Peoria, Peoria, IL 61605 USA King Saud Univ, Coll Sci, Dept Zool, Riyadh 11362, Saudi ArabiaMcWalter, Kirsty论文数: 0 引用数: 0 h-index: 0机构: Genedx Inc, 207 Perry Pkwy, Gaithersburg, MD 20877 USA King Saud Univ, Coll Sci, Dept Zool, Riyadh 11362, Saudi ArabiaBegtrup, Amber论文数: 0 引用数: 0 h-index: 0机构: Genedx Inc, 207 Perry Pkwy, Gaithersburg, MD 20877 USA King Saud Univ, Coll Sci, Dept Zool, Riyadh 11362, Saudi ArabiaZarate, Yuri A.论文数: 0 引用数: 0 h-index: 0机构: Univ Arkansas Med Sci, Sect Genet & Metab, Dept Pediat, Little Rock, AR 72202 USA King Saud Univ, Coll Sci, Dept Zool, Riyadh 11362, Saudi ArabiaChristensen, Elyse L.论文数: 0 引用数: 0 h-index: 0机构: Seattle Childrens Res Inst, Ctr Integrat Brain Res, Seattle, WA 98101 USA King Saud Univ, Coll Sci, Dept Zool, Riyadh 11362, Saudi ArabiaOpperman, Karla J.论文数: 0 引用数: 0 h-index: 0机构: Seattle Childrens Res Inst, Ctr Integrat Brain Res, Seattle, WA 98101 USA King Saud Univ, Coll Sci, Dept Zool, Riyadh 11362, Saudi ArabiaGiles, Andrew C.论文数: 0 引用数: 0 h-index: 0机构: Univ Northern British Columbia, Div Med Sci, Prince George, BC V2N 4Z9, Canada King Saud Univ, Coll Sci, Dept Zool, Riyadh 11362, Saudi ArabiaHelaby, Rana论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Ctr Genom Med, Dept Translat Genom, Riyadh 11564, Saudi Arabia King Saud Univ, Coll Sci, Dept Zool, Riyadh 11362, Saudi Arabia论文数: 引用数: h-index:机构:Zheng, Ning论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pharmacol, Sch Med, Seattle, WA 98195 USA Univ Washington, Howard Hughes Med Inst, Dept Pharmacol, Seattle, WA 98195 USA King Saud Univ, Coll Sci, Dept Zool, Riyadh 11362, Saudi ArabiaGrill, Brock论文数: 0 引用数: 0 h-index: 0机构: Seattle Childrens Res Inst, Ctr Integrat Brain Res, Seattle, WA 98101 USA Univ Washington, Dept Pharmacol, Sch Med, Seattle, WA 98195 USA Univ Washington, Dept Pediat, Sch Med, Seattle, WA 98101 USA King Saud Univ, Coll Sci, Dept Zool, Riyadh 11362, Saudi ArabiaAlkuraya, Fowzan S.论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Ctr Genom Med, Dept Translat Genom, Riyadh 11564, Saudi Arabia King Saud Univ, Coll Sci, Dept Zool, Riyadh 11362, Saudi Arabia
- [34] A missense, loss-of-function YARS1 variant in a patient with proximal-predominant motor neuropathyCOLD SPRING HARBOR MOLECULAR CASE STUDIES, 2022, 8 (07):Forrest, Megan E.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Human Genet, Med Sch, Ann Arbor, MI 48109 USA Univ Michigan, Dept Human Genet, Med Sch, Ann Arbor, MI 48109 USAMeyer, Alayne P.论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Div Genet & Genom Med, Columbus, OH 43205 USA Ohio State Univ, Dept Pediat, Coll Med, Columbus, OH 43210 USA Univ Michigan, Dept Human Genet, Med Sch, Ann Arbor, MI 48109 USAFigueroa, Stephanie M. Laureano M.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan Med Sch, Med Scientist Training Program, Ann Arbor, MI 48109 USA Univ Michigan, Dept Human Genet, Med Sch, Ann Arbor, MI 48109 USAAntonellis, Anthony论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Human Genet, Med Sch, Ann Arbor, MI 48109 USA Univ Michigan, Dept Neurol, Med Sch, Ann Arbor, MI 48109 USA Univ Michigan, Dept Human Genet, Med Sch, Ann Arbor, MI 48109 USA
- [35] Kv3.1 channelopathy: a novel loss-of-function variant and the mechanistic basis of its clinical phenotypesANNALS OF TRANSLATIONAL MEDICINE, 2021, 9 (18)Li, Xiaoyang论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Huashan Hosp, Dept Neurol, 12 Wulumuqi Zhong Rd, Shanghai 200040, Peoples R China Univ N Carolina, Dept Neurol, Chapel Hill, NC 27515 USA Fudan Univ, Huashan Hosp, Dept Neurol, 12 Wulumuqi Zhong Rd, Shanghai 200040, Peoples R ChinaZheng, Yongsheng论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Huashan Hosp, Dept Neurol, 12 Wulumuqi Zhong Rd, Shanghai 200040, Peoples R China Fudan Univ, Huashan Hosp, Dept Neurol, 12 Wulumuqi Zhong Rd, Shanghai 200040, Peoples R ChinaLi, Shaoyuan论文数: 0 引用数: 0 h-index: 0机构: AmCare Genom Lab, Guangzhou, Peoples R China Fudan Univ, Huashan Hosp, Dept Neurol, 12 Wulumuqi Zhong Rd, Shanghai 200040, Peoples R ChinaNair, Umesh论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, Australia Fudan Univ, Huashan Hosp, Dept Neurol, 12 Wulumuqi Zhong Rd, Shanghai 200040, Peoples R ChinaSun, Chong论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Huashan Hosp, Dept Neurol, 12 Wulumuqi Zhong Rd, Shanghai 200040, Peoples R China Fudan Univ, Huashan Hosp, Dept Neurol, 12 Wulumuqi Zhong Rd, Shanghai 200040, Peoples R ChinaZhao, Chongbo论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Huashan Hosp, Dept Neurol, 12 Wulumuqi Zhong Rd, Shanghai 200040, Peoples R China Fudan Univ, Huashan Hosp, Dept Neurol, 12 Wulumuqi Zhong Rd, Shanghai 200040, Peoples R ChinaLu, Jiahong论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Huashan Hosp, Dept Neurol, 12 Wulumuqi Zhong Rd, Shanghai 200040, Peoples R China Fudan Univ, Huashan Hosp, Dept Neurol, 12 Wulumuqi Zhong Rd, Shanghai 200040, Peoples R ChinaZhang, Victor Wei论文数: 0 引用数: 0 h-index: 0机构: AmCare Genom Lab, Guangzhou, Peoples R China Fudan Univ, Huashan Hosp, Dept Neurol, 12 Wulumuqi Zhong Rd, Shanghai 200040, Peoples R ChinaMaljevic, Snezana论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, Australia Fudan Univ, Huashan Hosp, Dept Neurol, 12 Wulumuqi Zhong Rd, Shanghai 200040, Peoples R China论文数: 引用数: h-index:机构:Lin, Jie论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Huashan Hosp, Dept Neurol, 12 Wulumuqi Zhong Rd, Shanghai 200040, Peoples R China Fudan Univ, Huashan Hosp, Dept Neurol, 12 Wulumuqi Zhong Rd, Shanghai 200040, Peoples R China
- [36] Tall Stature and Scoliosis Associated With a Novel Homozygous Loss-of-Function Missense Variant in NPR3AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2025,Moffatt, Pierre论文数: 0 引用数: 0 h-index: 0机构: Shriners Hosp Children Canada, Montreal, PQ, Canada McGill Univ, Fac Dent Med & Oral Hlth Sci, Montreal, PQ, Canada Shriners Hosp Children Canada, Montreal, PQ, CanadaJanelle, Chantal论文数: 0 引用数: 0 h-index: 0机构: Shriners Hosp Children Canada, Montreal, PQ, Canada Shriners Hosp Children Canada, Montreal, PQ, CanadaMiranda, Valancy论文数: 0 引用数: 0 h-index: 0机构: Shriners Hosp Children Canada, Montreal, PQ, Canada Shriners Hosp Children Canada, Montreal, PQ, CanadaBardai, Ghalib论文数: 0 引用数: 0 h-index: 0机构: Shriners Hosp Children Canada, Montreal, PQ, Canada Shriners Hosp Children Canada, Montreal, PQ, CanadaRauch, Frank论文数: 0 引用数: 0 h-index: 0机构: Shriners Hosp Children Canada, Montreal, PQ, Canada Shriners Hosp Children Canada, Montreal, PQ, Canada
- [37] Not Just Loss-of-Function Variations Identification of a Hypermorphic Variant in a Patient With a CDKL5 Missense SubstitutionNEUROLOGY-GENETICS, 2022, 8 (02)Frasca, Angelisa论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dept Med Biotechnol & Translat Med, Milan, Italy Univ Milan, Dept Med Biotechnol & Translat Med, Milan, ItalyPavlidou, Efterpi论文数: 0 引用数: 0 h-index: 0机构: Univ Ioannina, Dept Speech & Language Therapy, Ioannina, Greece Univ Milan, Dept Med Biotechnol & Translat Med, Milan, ItalyBizzotto, Matteo论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dept Med Biotechnol & Translat Med, Milan, Italy Univ Milan, Dept Med Biotechnol & Translat Med, Milan, ItalyGao, Yunan论文数: 0 引用数: 0 h-index: 0机构: Imperial Coll London, Fac Med, Dept Brain Sci, Div Neurosci,Gene Therapy, Hammersmith Campus, London, England Univ Milan, Dept Med Biotechnol & Translat Med, Milan, ItalyBalestra, Dario论文数: 0 引用数: 0 h-index: 0机构: Univ Ferrara, Dept Life Sci & Biotechnol, Ferrara, Italy Univ Milan, Dept Med Biotechnol & Translat Med, Milan, ItalyPinotti, Mirko论文数: 0 引用数: 0 h-index: 0机构: Univ Ferrara, Dept Life Sci & Biotechnol, Ferrara, Italy Univ Milan, Dept Med Biotechnol & Translat Med, Milan, ItalyDahl, Hans Atli论文数: 0 引用数: 0 h-index: 0机构: Amplexa Genet AS, Odense, Denmark Univ Milan, Dept Med Biotechnol & Translat Med, Milan, ItalyMazarakis, Nicholas D.论文数: 0 引用数: 0 h-index: 0机构: Imperial Coll London, Fac Med, Dept Brain Sci, Div Neurosci,Gene Therapy, Hammersmith Campus, London, England Univ Milan, Dept Med Biotechnol & Translat Med, Milan, ItalyLandsberger, Nicoletta论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dept Med Biotechnol & Translat Med, Milan, Italy Univ Milan, Dept Med Biotechnol & Translat Med, Milan, ItalyKinali, Maria论文数: 0 引用数: 0 h-index: 0机构: HCA Healthcare UK, Portland Hosp, Dept Paediat Neurol, London, England Imperial Coll, London, England Univ Milan, Dept Med Biotechnol & Translat Med, Milan, Italy
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