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- [21] Biallelic loss-of-function OBSCN variants predispose individuals to severe, recurrent rhabdomyolysisNEUROMUSCULAR DISORDERS, 2021, 31Cabrera-Serrano, Macarena论文数: 0 引用数: 0 h-index: 0机构: Hosp Virgen Rocio, Serv Neurol & Neurofisiol, Unidad Enfermedades Neuromusculares, Seville, Spain Univ Western Australia, Nedlands, WA, AustraliaCaccavelli, Laure论文数: 0 引用数: 0 h-index: 0机构: Univ Paris, Inst Necker Enfants Malades, Necker Enfants Malades Hosp, Inserm U1151,Reference Ctr inherited Metab Dis, Paris, France Univ Western Australia, Nedlands, WA, AustraliaSavarese, Marco论文数: 0 引用数: 0 h-index: 0机构: Folkhalsan Res Ctr, Helsinki, Finland Univ Helsinki, Dept Med Genet, Med, Helsinki, Finland Univ Western Australia, Nedlands, WA, AustraliaVihola, Anna论文数: 0 引用数: 0 h-index: 0机构: Folkhalsan Res Ctr, Helsinki, Finland Univ Helsinki, Dept Med Genet, Med, Helsinki, Finland Univ Western Australia, Nedlands, WA, AustraliaJokela, Manu论文数: 0 引用数: 0 h-index: 0机构: Tampere Univ, Dept Neurol, Neuromuscular Res Ctr, Tampere, Finland Univ Hosp, Tampere, Finland Univ Western Australia, Nedlands, WA, AustraliaJohari, Mridul论文数: 0 引用数: 0 h-index: 0机构: Folkhalsan Res Ctr, Helsinki, Finland Univ Helsinki, Dept Med Genet, Med, Helsinki, Finland Univ Western Australia, Nedlands, WA, AustraliaCapiod, Thierry论文数: 0 引用数: 0 h-index: 0机构: Univ Paris, Inst Necker Enfants Malades, Necker Enfants Malades Hosp, Inserm U1151,Reference Ctr inherited Metab Dis, Paris, France Univ Western Australia, Nedlands, WA, AustraliaMadrange, Marine论文数: 0 引用数: 0 h-index: 0机构: Univ Paris, Inst Necker Enfants Malades, Necker Enfants Malades Hosp, Inserm U1151,Reference Ctr inherited Metab Dis, Paris, France Univ Western Australia, Nedlands, WA, AustraliaBugiardini, Enrico论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England Univ Western Australia, Nedlands, WA, AustraliaBrady, Stefen论文数: 0 引用数: 0 h-index: 0机构: Southmead Hosp, Dept Neurol, Bristol, Avon, England Univ Western Australia, Nedlands, WA, AustraliaQuinlivan, Rosaline论文数: 0 引用数: 0 h-index: 0机构: Univ Coll Hosp, MRC Ctr Neuromuscular Dis, London, England Univ Western Australia, Nedlands, WA, AustraliaMerve, Ashirwad论文数: 0 引用数: 0 h-index: 0机构: Univ Coll Hosp, MRC Ctr Neuromuscular Dis, London, England Univ Western Australia, Nedlands, WA, AustraliaScalco, Renata论文数: 0 引用数: 0 h-index: 0机构: Univ Coll Hosp, MRC Ctr Neuromuscular Dis, London, England Univ Western Australia, Nedlands, WA, AustraliaHilton-Jones, David论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Weatherall Inst Mol Med, Nuffield Dept Clin Neurosci, Neurosci Grp, Oxford, England Univ Western Australia, Nedlands, WA, AustraliaHoulden, Henry论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England Univ Western Australia, Nedlands, WA, AustraliaAydin, Halil论文数: 0 引用数: 0 h-index: 0机构: Baskent Univ, Dept Pediatr, Ankara, Turkey Univ Western Australia, Nedlands, WA, AustraliaCeylaner, Serdar论文数: 0 引用数: 0 h-index: 0机构: Intergen Genet Diag & Res Ctr, Ankara, Turkey Univ Western Australia, Nedlands, WA, AustraliaVockley, Jerry论文数: 0 引用数: 0 h-index: 0机构: Univ Pittsburgh, Sch Med, Pittsburgh, PA USA Univ Western Australia, Nedlands, WA, AustraliaTaylor, Rhonda论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Nedlands, WA, Australia Univ Western Australia, Nedlands, WA, AustraliaGoullee, Hayley论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Nedlands, WA, Australia Univ Western Australia, Nedlands, WA, Australia论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Tyynismaa, Henna论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Stem Cells & Metab Res Program, Fac Med, Helsinki, Finland Univ Western Australia, Nedlands, WA, AustraliaUdd, Bjarne论文数: 0 引用数: 0 h-index: 0机构: Folkhalsan Res Ctr, Helsinki, Finland Univ Helsinki, Dept Med Genet, Med, Helsinki, Finland Univ Western Australia, Nedlands, WA, AustraliaForrest, Alistair论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Nedlands, WA, Australia Univ Western Australia, Nedlands, WA, AustraliaDavis, Mark论文数: 0 引用数: 0 h-index: 0机构: PathWest Lab Med WA, Dept Diagnost Genom, Nedlands, WA, Australia Univ Western Australia, Nedlands, WA, AustraliaBratkovic, Drago论文数: 0 引用数: 0 h-index: 0机构: Women & Childrens Hosp, Metab Clin, Adelaide, SA, Australia Univ Western Australia, Nedlands, WA, AustraliaManton, Nicholas论文数: 0 引用数: 0 h-index: 0机构: Women & Childrens Hosp, SA Pathol, Adelaide, SA, Australia Univ Western Australia, Nedlands, WA, AustraliaRobertson, Thomas论文数: 0 引用数: 0 h-index: 0机构: Queensland Pathol, Anat Pathol, Brisbane, Qld, Australia Univ Western Australia, Nedlands, WA, AustraliaMcCombe, Pamela论文数: 0 引用数: 0 h-index: 0机构: Royal Brisbane & Womens Hosp, Dept Neurol, Brisbane, Qld, Australia Univ Western Australia, Nedlands, WA, AustraliaLaing, Nigel论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Nedlands, WA, Australia Univ Western Australia, Nedlands, WA, AustraliaPhillips, Liza论文数: 0 引用数: 0 h-index: 0机构: Queensland Pathol, Anat Pathol, Brisbane, Qld, Australia Univ Western Australia, Nedlands, WA, Australiade Lonlay, Pascale论文数: 0 引用数: 0 h-index: 0机构: Univ Paris, Inst Necker Enfants Malades, Necker Enfants Malades Hosp, Inserm U1151,Reference Ctr inherited Metab Dis, Paris, France Univ Western Australia, Nedlands, WA, AustraliaRavenscroft, Gina论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Nedlands, WA, Australia Univ Western Australia, Nedlands, WA, Australia
- [22] Biallelic loss-of-function variants in DNMBP cause congenital cataract and visual impairmentEUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 868 - 869Ansar, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, Geneva, SwitzerlandNazir, A.论文数: 0 引用数: 0 h-index: 0机构: Khyber Med Univ, Inst Basic Med Sci, Peshawar, Pakistan Univ Geneva, Dept Genet Med & Dev, Geneva, SwitzerlandChung, H.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA Univ Geneva, Dept Genet Med & Dev, Geneva, SwitzerlandImtiaz, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Karachi, Dept Genet, Karachi, Pakistan Univ Geneva, Dept Genet Med & Dev, Geneva, SwitzerlandSarwar, M. T.论文数: 0 引用数: 0 h-index: 0机构: Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland Khyber Med Univ, Inst Basic Med Sci, Peshawar, Pakistan Univ Geneva, Dept Genet Med & Dev, Geneva, SwitzerlandMakrythanasis, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland Acad Athens, Biomed Res Fdn, Athens, Greece Univ Geneva, Dept Genet Med & Dev, Geneva, SwitzerlandFalconnet, E.论文数: 0 引用数: 0 h-index: 0机构: Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, Geneva, SwitzerlandGuipponi, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Geneva, Serv Genet Med, Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, Geneva, SwitzerlandBorel, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, Geneva, SwitzerlandPournaras, C. J.论文数: 0 引用数: 0 h-index: 0机构: Hirslanden Clin Colline, Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, Geneva, SwitzerlandAnsari, M. A.论文数: 0 引用数: 0 h-index: 0机构: Univ Karachi, Dept Genet, Karachi, Pakistan Univ Geneva, Dept Genet Med & Dev, Geneva, SwitzerlandRanza, E.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Geneva, Serv Genet Med, Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, Geneva, SwitzerlandSantoni, F. A.论文数: 0 引用数: 0 h-index: 0机构: Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland Univ Lausanne Hosp, Dept Endocrinol Diabet & Metab, Lausanne, Switzerland Univ Geneva, Dept Genet Med & Dev, Geneva, SwitzerlandAhmed, J.论文数: 0 引用数: 0 h-index: 0机构: Khyber Med Univ, Inst Basic Med Sci, Peshawar, Pakistan Univ Geneva, Dept Genet Med & Dev, Geneva, SwitzerlandShah, I.论文数: 0 引用数: 0 h-index: 0机构: Univ Geneva, Dept Genet Med & Dev, Geneva, SwitzerlandGul, K.论文数: 0 引用数: 0 h-index: 0机构: Muhammad Ali Jinnah Univ, Dept Bio Sci, Fac Life Sci, Karachi, Pakistan Univ Geneva, Dept Genet Med & Dev, Geneva, SwitzerlandBellen, H.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA Howard Hughes Med Inst, Houston, TX 77030 USA Univ Geneva, Dept Genet Med & Dev, Geneva, SwitzerlandAntonarakis, S. E.论文数: 0 引用数: 0 h-index: 0机构: Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland
- [23] Ophthalmic phenotypes associated with biallelic loss-of-function PCDH12 variantsAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2021, 185 (04) : 1275 - 1281论文数: 引用数: h-index:机构:Voisin, Norine论文数: 0 引用数: 0 h-index: 0机构: Univ Lausanne, Ctr Integrat Genom, Lausanne, Switzerland Univ Lausanne, Ctr Integrat Genom, Lausanne, SwitzerlandPreiksaitiene, Egle论文数: 0 引用数: 0 h-index: 0机构: Vilnius Univ, Fac Med, Inst Biomed Sci, Dept Human & Med Genet, Vilnius, Lithuania Univ Lausanne, Ctr Integrat Genom, Lausanne, SwitzerlandKozlovskaja, Irina论文数: 0 引用数: 0 h-index: 0机构: Vilnius Univ Hosp Santaros Klinikos, Ctr Eyes Dis, Vilnius, Lithuania Univ Lausanne, Ctr Integrat Genom, Lausanne, SwitzerlandKucinskas, Vaidutis论文数: 0 引用数: 0 h-index: 0机构: Vilnius Univ, Fac Med, Inst Biomed Sci, Dept Human & Med Genet, Vilnius, Lithuania Univ Lausanne, Ctr Integrat Genom, Lausanne, Switzerland论文数: 引用数: h-index:机构:
- [24] Loss-of-function variantsNature Genetics, 2012, 44 (4) : 368 - 368Orli Bahcall论文数: 0 引用数: 0 h-index: 0
- [25] Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing LossINTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2023, 24 (10)Hirsch, Yoel论文数: 0 引用数: 0 h-index: 0机构: Dor Yeshorim, Comm Prevent Jewish Genet Dis, Brooklyn, NY 11211 USA Dor Yeshorim, Comm Prevent Jewish Genet Dis, Brooklyn, NY 11211 USAChung, Wendy K. K.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Irving Med Ctr, Dept Pediat & Med, New York, NY 10032 USA Dor Yeshorim, Comm Prevent Jewish Genet Dis, Brooklyn, NY 11211 USANovoselov, Sergey论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, England Dor Yeshorim, Comm Prevent Jewish Genet Dis, Brooklyn, NY 11211 USAWeimer, Louis H.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Irving Med Ctr, Dept Neurol, New York, NY 10032 USA Dor Yeshorim, Comm Prevent Jewish Genet Dis, Brooklyn, NY 11211 USARossor, Alexander论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, England Dor Yeshorim, Comm Prevent Jewish Genet Dis, Brooklyn, NY 11211 USALeDuc, Charles A.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Irving Med Ctr, Dept Pediat & Med, New York, NY 10032 USA Dor Yeshorim, Comm Prevent Jewish Genet Dis, Brooklyn, NY 11211 USAMcPartland, Amanda J.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Irving Med Ctr, Dept Pediat & Med, New York, NY 10032 USA Dor Yeshorim, Comm Prevent Jewish Genet Dis, Brooklyn, NY 11211 USACabrera, Ernesto论文数: 0 引用数: 0 h-index: 0机构: Indiana Univ Sch Med, Dept Otolaryngol Head & Neck Surg, Indianapolis, IN 46202 USA Dor Yeshorim, Comm Prevent Jewish Genet Dis, Brooklyn, NY 11211 USAEkstein, Josef论文数: 0 引用数: 0 h-index: 0机构: Dor Yeshorim, Comm Prevent Jewish Genet Dis, Brooklyn, NY 11211 USA Dor Yeshorim, Comm Prevent Jewish Genet Dis, Brooklyn, NY 11211 USAScher, Sholem论文数: 0 引用数: 0 h-index: 0机构: Dor Yeshorim, Comm Prevent Jewish Genet Dis, Brooklyn, NY 11211 USA Dor Yeshorim, Comm Prevent Jewish Genet Dis, Brooklyn, NY 11211 USANelson, Rick F.论文数: 0 引用数: 0 h-index: 0机构: Indiana Univ Sch Med, Dept Otolaryngol Head & Neck Surg, Indianapolis, IN 46202 USA Dor Yeshorim, Comm Prevent Jewish Genet Dis, Brooklyn, NY 11211 USASchiavo, Giampietro论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, England UCL, UK Dementia Res Inst, London WC1E 6BT, England Dor Yeshorim, Comm Prevent Jewish Genet Dis, Brooklyn, NY 11211 USAHenderson, Lindsay B.论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA Dor Yeshorim, Comm Prevent Jewish Genet Dis, Brooklyn, NY 11211 USABooth, Kevin T. A.论文数: 0 引用数: 0 h-index: 0机构: Indiana Univ Sch Med, Dept Otolaryngol Head & Neck Surg, Indianapolis, IN 46202 USA Indiana Univ Sch Med, Med & Mol Med, Indianapolis, IN 46202 USA Dor Yeshorim, Comm Prevent Jewish Genet Dis, Brooklyn, NY 11211 USA
- [26] Loss-of-function variant in the LRR domain of SLITRK2 implicated in a neurodevelopmental disorderFRONTIERS IN GENETICS, 2024, 14Afsar, Tayyaba论文数: 0 引用数: 0 h-index: 0机构: King Saud Univ, Coll Appl Med Sci, Dept Community Hlth Sci, Riyadh, Saudi Arabia King Salman Ctr Disabil Res, Riyadh, Saudi Arabia King Saud Univ, Coll Appl Med Sci, Dept Community Hlth Sci, Riyadh, Saudi ArabiaFu, Hongxia论文数: 0 引用数: 0 h-index: 0机构: Dongguan Songshan Lake Cent Hosp, Dept Neurol, Dongguan, Peoples R China King Saud Univ, Coll Appl Med Sci, Dept Community Hlth Sci, Riyadh, Saudi ArabiaKhan, Hammal论文数: 0 引用数: 0 h-index: 0机构: COMSATS Univ Islamabad, Dept Biosci, Islamabad, Pakistan King Saud Univ, Coll Appl Med Sci, Dept Community Hlth Sci, Riyadh, Saudi ArabiaAli, Zain论文数: 0 引用数: 0 h-index: 0机构: Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, Pakistan King Saud Univ, Coll Appl Med Sci, Dept Community Hlth Sci, Riyadh, Saudi ArabiaZehri, Zamrud论文数: 0 引用数: 0 h-index: 0机构: Civil Hosp, Dept Gynecol, Quetta, Pakistan King Saud Univ, Coll Appl Med Sci, Dept Community Hlth Sci, Riyadh, Saudi Arabia论文数: 引用数: h-index:机构:Abbas, Safdar论文数: 0 引用数: 0 h-index: 0机构: Dartmouth Coll, Dept Biol Sci, Hanover, NH USA King Saud Univ, Coll Appl Med Sci, Dept Community Hlth Sci, Riyadh, Saudi ArabiaMahmood, Arif论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Ctr Med Genet, Sch Life Sci, Changsha, Peoples R China Cent South Univ, Sch Life Sci, Hunan Key Lab Med Genet, Changsha, Peoples R China King Saud Univ, Coll Appl Med Sci, Dept Community Hlth Sci, Riyadh, Saudi ArabiaAlam, Qamre论文数: 0 引用数: 0 h-index: 0机构: ExpressMed Diagnost & Res, Mol Genom & Precis Dept, Zinj, Bahrain King Saud Univ, Coll Appl Med Sci, Dept Community Hlth Sci, Riyadh, Saudi ArabiaHu, Junjian论文数: 0 引用数: 0 h-index: 0机构: Dongguan Songshan Lake Cent Hosp, Dept Cent Lab, Dongguan, Peoples R China King Saud Univ, Coll Appl Med Sci, Dept Community Hlth Sci, Riyadh, Saudi Arabia论文数: 引用数: h-index:机构:Umair, Muhammad论文数: 0 引用数: 0 h-index: 0机构: King Salman Ctr Disabil Res, Riyadh, Saudi Arabia King Saud Bin Abdulaziz Univ Hlth Sci, KAIMRC, Med Genom Res Dept, Minist Natl Guard Hlth Affairs MNGH, Riyadh, Saudi Arabia King Saud Univ, Coll Appl Med Sci, Dept Community Hlth Sci, Riyadh, Saudi Arabia
- [27] Novel biallelic loss-of-function KCNV2 variants in cone dystrophy with supernormal rod responsesDocumenta Ophthalmologica, 2019, 138 : 229 - 239Tomoko Kutsuma论文数: 0 引用数: 0 h-index: 0机构: The Jikei University School of Medicine,Department of OphthalmologySatoshi Katagiri论文数: 0 引用数: 0 h-index: 0机构: The Jikei University School of Medicine,Department of OphthalmologyTakaaki Hayashi论文数: 0 引用数: 0 h-index: 0机构: The Jikei University School of Medicine,Department of OphthalmologyKazutoshi Yoshitake论文数: 0 引用数: 0 h-index: 0机构: The Jikei University School of Medicine,Department of OphthalmologyDaisuke Iejima论文数: 0 引用数: 0 h-index: 0机构: The Jikei University School of Medicine,Department of OphthalmologyTamaki Gekka论文数: 0 引用数: 0 h-index: 0机构: The Jikei University School of Medicine,Department of OphthalmologyKenichi Kohzaki论文数: 0 引用数: 0 h-index: 0机构: The Jikei University School of Medicine,Department of OphthalmologyKei Mizobuchi论文数: 0 引用数: 0 h-index: 0机构: The Jikei University School of Medicine,Department of OphthalmologyYukari Baba论文数: 0 引用数: 0 h-index: 0机构: The Jikei University School of Medicine,Department of OphthalmologyRyo Terauchi论文数: 0 引用数: 0 h-index: 0机构: The Jikei University School of Medicine,Department of OphthalmologyTomokazu Matsuura论文数: 0 引用数: 0 h-index: 0机构: The Jikei University School of Medicine,Department of OphthalmologyShinji Ueno论文数: 0 引用数: 0 h-index: 0机构: The Jikei University School of Medicine,Department of OphthalmologyTakeshi Iwata论文数: 0 引用数: 0 h-index: 0机构: The Jikei University School of Medicine,Department of OphthalmologyTadashi Nakano论文数: 0 引用数: 0 h-index: 0机构: The Jikei University School of Medicine,Department of Ophthalmology
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