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- [41] Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRDNPJ GENOMIC MEDICINE, 2021, 6 (01)Sangermano, Riccardo论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Dept Ophthalmol, Massachusetts Eye & Ear Infirm, Ocular Genom Inst, Boston, MA 02115 USA Harvard Med Sch, Dept Ophthalmol, Massachusetts Eye & Ear Infirm, Ocular Genom Inst, Boston, MA 02115 USADeitch, Iris论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Dept Ophthalmol Massachusetts Eye & Ear, Retina Serv, Boston, MA 02115 USA Harvard Med Sch, Dept Ophthalmol, Massachusetts Eye & Ear Infirm, Ocular Genom Inst, Boston, MA 02115 USAPeter, Virginie G.论文数: 0 引用数: 0 h-index: 0机构: Inst Mol & Clin Ophthalmol Basel IOB, Basel, Switzerland Univ Basel, Dept Ophthalmol, Basel, Switzerland Lausanne Univ Hosp, Expt Pathol Inst Pathol, Lausanne, Switzerland Harvard Med Sch, Dept Ophthalmol, Massachusetts Eye & Ear Infirm, Ocular Genom Inst, Boston, MA 02115 USABa-Abbad, Rola论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, Genet Serv, London, England UCL, UCL Inst Ophthalmol, London, England Harvard Med Sch, Dept Ophthalmol, Massachusetts Eye & Ear Infirm, Ocular Genom Inst, Boston, MA 02115 USAPlace, Emily M.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Dept Ophthalmol, Massachusetts Eye & Ear Infirm, Ocular Genom Inst, Boston, MA 02115 USA Harvard Med Sch, Dept Ophthalmol, Massachusetts Eye & Ear Infirm, Ocular Genom Inst, Boston, MA 02115 USAZampaglione, Erin论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Dept Ophthalmol, Massachusetts Eye & Ear Infirm, Ocular Genom Inst, Boston, MA 02115 USA Harvard Med Sch, Dept Ophthalmol, Massachusetts Eye & Ear Infirm, Ocular Genom Inst, Boston, MA 02115 USAWagner, Naomi E.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Dept Ophthalmol, Massachusetts Eye & Ear Infirm, Ocular Genom Inst, Boston, MA 02115 USA Boston Childrens Hosp, Dept Ophthalmol, Boston, MA USA Harvard Med Sch, Boston, MA 02115 USA Harvard Med Sch, Dept Ophthalmol, Massachusetts Eye & Ear Infirm, Ocular Genom Inst, Boston, MA 02115 USAFulton, Anne B.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Ophthalmol, Boston, MA USA Harvard Med Sch, Boston, MA 02115 USA Harvard Med Sch, Dept Ophthalmol, Massachusetts Eye & Ear Infirm, Ocular Genom Inst, Boston, MA 02115 USACoutinho-Santos, Luisa论文数: 0 引用数: 0 h-index: 0机构: Inst Oftalmol Dr Gama Pinto, Dept Ophthalmol, Lisbon, Portugal Harvard Med Sch, Dept Ophthalmol, Massachusetts Eye & Ear Infirm, Ocular Genom Inst, Boston, MA 02115 USARosin, Boris论文数: 0 引用数: 0 h-index: 0机构: Hebrew Univ Jerusalem, Fac Med, Hadassah Med Ctr, Dept Ophthalmol, Jerusalem, Israel Harvard Med Sch, Dept Ophthalmol, Massachusetts Eye & Ear Infirm, Ocular Genom Inst, Boston, MA 02115 USA论文数: 引用数: h-index:机构:AlTalbishi, Ala'a论文数: 0 引用数: 0 h-index: 0机构: Hebrew Univ Jerusalem, Fac Med, Hadassah Med Ctr, Dept Ophthalmol, Jerusalem, Israel St John Eye Hosp, Jerusalem, Israel Harvard Med Sch, Dept Ophthalmol, Massachusetts Eye & Ear Infirm, Ocular Genom Inst, Boston, MA 02115 USABanin, Eyal论文数: 0 引用数: 0 h-index: 0机构: Hebrew Univ Jerusalem, Fac Med, Hadassah Med Ctr, Dept Ophthalmol, Jerusalem, Israel Harvard Med Sch, Dept Ophthalmol, Massachusetts Eye & Ear Infirm, Ocular Genom Inst, Boston, MA 02115 USASousa, Ana Berta论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Lisboa Norte CHULN, Hosp Santa Maria, Dept Med Genet, Lisbon Acad Med Ctr CAML, Lisbon, Portugal Harvard Med Sch, Dept Ophthalmol, Massachusetts Eye & Ear Infirm, Ocular Genom Inst, Boston, MA 02115 USANeves, Mariana论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Lisboa Norte CHULN, Hosp Santa Maria, Dept Med Genet, Lisbon Acad Med Ctr CAML, Lisbon, Portugal Harvard Med Sch, Dept Ophthalmol, Massachusetts Eye & Ear Infirm, Ocular Genom Inst, Boston, MA 02115 USALarson, Anna论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Dept Ophthalmol, Massachusetts Eye & Ear Infirm, Ocular Genom Inst, Boston, MA 02115 USA Harvard Med Sch, Dept Ophthalmol, Massachusetts Eye & Ear Infirm, Ocular Genom Inst, Boston, MA 02115 USA论文数: 引用数: h-index:机构:Michaelides, Michel论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, Genet Serv, London, England Harvard Med Sch, Dept Ophthalmol, Massachusetts Eye & Ear Infirm, Ocular Genom Inst, Boston, MA 02115 USABen-Yosef, Tamar论文数: 0 引用数: 0 h-index: 0机构: Technion Israel Inst Technol, Ruth & Bruce Rappaport Fac Med, Haifa, Israel Harvard Med Sch, Dept Ophthalmol, Massachusetts Eye & Ear Infirm, Ocular Genom Inst, Boston, MA 02115 USAPierce, Eric A.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Dept Ophthalmol, Massachusetts Eye & Ear Infirm, Ocular Genom Inst, Boston, MA 02115 USA Harvard Med Sch, Dept Ophthalmol, Massachusetts Eye & Ear Infirm, Ocular Genom Inst, Boston, MA 02115 USA论文数: 引用数: h-index:机构:Webster, Andrew R.论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, Genet Serv, London, England Harvard Med Sch, Dept Ophthalmol, Massachusetts Eye & Ear Infirm, Ocular Genom Inst, Boston, MA 02115 USA论文数: 引用数: h-index:机构:Sharon, Dror论文数: 0 引用数: 0 h-index: 0机构: Hebrew Univ Jerusalem, Fac Med, Hadassah Med Ctr, Dept Ophthalmol, Jerusalem, Israel Harvard Med Sch, Dept Ophthalmol, Massachusetts Eye & Ear Infirm, Ocular Genom Inst, Boston, MA 02115 USAHuckfeldt, Rachel M.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Dept Ophthalmol, Massachusetts Eye & Ear Infirm, Ocular Genom Inst, Boston, MA 02115 USA Harvard Med Sch, Dept Ophthalmol, Massachusetts Eye & Ear Infirm, Ocular Genom Inst, Boston, MA 02115 USABujakowska, Kinga M.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Dept Ophthalmol, Massachusetts Eye & Ear Infirm, Ocular Genom Inst, Boston, MA 02115 USA Harvard Med Sch, Dept Ophthalmol, Massachusetts Eye & Ear Infirm, Ocular Genom Inst, Boston, MA 02115 USA
- [42] Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRDnpj Genomic Medicine, 6Riccardo Sangermano论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of OphthalmologyIris Deitch论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of OphthalmologyVirginie G. Peter论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of OphthalmologyRola Ba-Abbad论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of OphthalmologyEmily M. Place论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of OphthalmologyErin Zampaglione论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of OphthalmologyNaomi E. Wagner论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of OphthalmologyAnne B. Fulton论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of OphthalmologyLuisa Coutinho-Santos论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of OphthalmologyBoris Rosin论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of OphthalmologyVincent Dunet论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of OphthalmologyAla’a AlTalbishi论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of OphthalmologyEyal Banin论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of OphthalmologyAna Berta Sousa论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of OphthalmologyMariana Neves论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of OphthalmologyAnna Larson论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of OphthalmologyMathieu Quinodoz论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of OphthalmologyMichel Michaelides论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of OphthalmologyTamar Ben-Yosef论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of OphthalmologyEric A. Pierce论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of OphthalmologyCarlo Rivolta论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of OphthalmologyAndrew R. Webster论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of OphthalmologyGavin Arno论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of OphthalmologyDror Sharon论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of OphthalmologyRachel M. Huckfeldt论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of OphthalmologyKinga M. Bujakowska论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology
- [43] Evaluating rare coding variants as contributing causes to non-syndromic cleft lip and palateCLINICAL GENETICS, 2013, 84 (05) : 496 - 500Leslie, E. J.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Dept Pediat, Iowa City, IA 52242 USA Univ Iowa, Dept Pediat, Iowa City, IA 52242 USAMurray, J. C.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Dept Pediat, Iowa City, IA 52242 USA Univ Iowa, Dept Pediat, Iowa City, IA 52242 USA
- [44] Rare loss-of-function variants in FLNB cause non-syndromic orofacial cleftsJOURNAL OF GENETICS AND GENOMICS, 2024, 51 (02)Huang, Wenbin论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Sch & Hosp Stomatol, Dept Orthodont, Beijing 100081, Peoples R China Xi An Jiao Tong Univ, Coll Stomatol, Key Lab Shaanxi Prov Craniofacial Precis Med Res, Xian 710004, Shaanxi, Peoples R China Shenzhen Peking Univ Hong Kong Univ Sci & Technol, Peking Univ Shenzhen Hosp, Stomatol Ctr, Guangdong Prov Engn Res Ctr Oral Dis Diag & Treatm, Shenzhen 518036, Guangdong, Peoples R China Peking Univ, Sch & Hosp Stomatol, Dept Orthodont, Beijing 100081, Peoples R ChinaZhang, Shiying论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Sch & Hosp Stomatol, Dept Orthodont, Beijing 100081, Peoples R China Peking Univ, Sch & Hosp Stomatol, Dept Orthodont, Beijing 100081, Peoples R ChinaLin, Jiuxiang论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Sch & Hosp Stomatol, Dept Orthodont, Beijing 100081, Peoples R China Peking Univ, Sch & Hosp Stomatol, Dept Orthodont, Beijing 100081, Peoples R ChinaDing, Yi论文数: 0 引用数: 0 h-index: 0机构: Xi An Jiao Tong Univ, Sch Basic Med Sci, Dept Physiol & Pathophysiol, Xian 710049, Shaanxi, Peoples R China Peking Univ, Sch & Hosp Stomatol, Dept Orthodont, Beijing 100081, Peoples R ChinaJiang, Nan论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Stomatol, Natl Clin Res Ctr Oral Dis, Res Ctr Engn & Technol Computerized Dent, Minist Hlth,Natl Engn Lab Digital & Mat Technol St, Beijing 100101, Peoples R China Peking Univ, Sch & Hosp Stomatol, Cent Lab, Beijing 100081, Peoples R China Peking Univ, Sch & Hosp Stomatol, Dept Orthodont, Beijing 100081, Peoples R ChinaZhang, Jieni论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Sch & Hosp Stomatol, Dept Orthodont, Beijing 100081, Peoples R China Peking Univ, Sch & Hosp Stomatol, Dept Orthodont, Beijing 100081, Peoples R ChinaZhao, Huaxiang论文数: 0 引用数: 0 h-index: 0机构: Xi An Jiao Tong Univ, Coll Stomatol, Key Lab Shaanxi Prov Craniofacial Precis Med Res, Xian 710004, Shaanxi, Peoples R China Peking Univ, Sch & Hosp Stomatol, Dept Orthodont, Beijing 100081, Peoples R ChinaChen, Feng论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Stomatol, Natl Clin Res Ctr Oral Dis, Res Ctr Engn & Technol Computerized Dent, Minist Hlth,Natl Engn Lab Digital & Mat Technol St, Beijing 100101, Peoples R China Peking Univ, Sch & Hosp Stomatol, Cent Lab, Beijing 100081, Peoples R China Peking Univ, Sch & Hosp Stomatol, Dept Orthodont, Beijing 100081, Peoples R China
- [45] Identification of rare variants in PTCH2 associated with non-syndromic orofacial cleftsGENE, 2024, 907Liang, Xuqin论文数: 0 引用数: 0 h-index: 0机构: Xi An Jiao Tong Univ, Sch Basic Med Sci, Dept Physiol & Pathophysiol, Xian, Shaanxi, Peoples R China Xi An Jiao Tong Univ, Coll Stomatol, Key Lab Shaanxi Prov Craniofacial Precis Med Res, Xian, Shaanxi, Peoples R ChinaHe, Qing论文数: 0 引用数: 0 h-index: 0机构: Xi An Jiao Tong Univ, Sch Basic Med Sci, Dept Physiol & Pathophysiol, Xian, Shaanxi, Peoples R China Xi An Jiao Tong Univ, Coll Stomatol, Key Lab Shaanxi Prov Craniofacial Precis Med Res, Xian, Shaanxi, Peoples R ChinaJiao, Yuhua论文数: 0 引用数: 0 h-index: 0机构: Xi An Jiao Tong Univ, Coll Stomatol, Key Lab Shaanxi Prov Craniofacial Precis Med Res, Xian, Shaanxi, Peoples R China Xi An Jiao Tong Univ, Coll Stomatol, Key Lab Shaanxi Prov Craniofacial Precis Med Res, Xian, Shaanxi, Peoples R ChinaYang, Hui论文数: 0 引用数: 0 h-index: 0机构: Xi An Jiao Tong Univ, Coll Stomatol, Key Lab Shaanxi Prov Craniofacial Precis Med Res, Xian, Shaanxi, Peoples R China Xi An Jiao Tong Univ, Coll Stomatol, Key Lab Shaanxi Prov Craniofacial Precis Med Res, Xian, Shaanxi, Peoples R ChinaHuang, Wenbin论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Shenzhen Peking Univ,Dept Orthodont,Stomatol Ctr, Hong Kong Univ Sci & Technol,Shenzhen Hosp,Med Ctr, Guangdong Prov Engn Res Ctr Oral Dis Diag & Treatm, Shenzhen, Guangdong, Peoples R China Xi An Jiao Tong Univ, Coll Stomatol, Key Lab Shaanxi Prov Craniofacial Precis Med Res, Xian, Shaanxi, Peoples R ChinaLiu, Kangying论文数: 0 引用数: 0 h-index: 0机构: Xi An Jiao Tong Univ, Sch Basic Med Sci, Dept Physiol & Pathophysiol, Xian, Shaanxi, Peoples R China Xi An Jiao Tong Univ, Coll Stomatol, Key Lab Shaanxi Prov Craniofacial Precis Med Res, Xian, Shaanxi, Peoples R ChinaLin, Hongmei论文数: 0 引用数: 0 h-index: 0机构: Xi An Jiao Tong Univ, Affiliated Hosp 2, Dept Pediat, Xian, Shaanxi, Peoples R China Xi An Jiao Tong Univ, Coll Stomatol, Key Lab Shaanxi Prov Craniofacial Precis Med Res, Xian, Shaanxi, Peoples R ChinaXu, Linping论文数: 0 引用数: 0 h-index: 0机构: Xi An Jiao Tong Univ, Sch Basic Med Sci, Dept Physiol & Pathophysiol, Xian, Shaanxi, Peoples R China Xi An Jiao Tong Univ, Coll Stomatol, Key Lab Shaanxi Prov Craniofacial Precis Med Res, Xian, Shaanxi, Peoples R ChinaHou, Yuxia论文数: 0 引用数: 0 h-index: 0机构: Xi An Jiao Tong Univ, Coll Stomatol, Key Lab Shaanxi Prov Craniofacial Precis Med Res, Xian, Shaanxi, Peoples R China Xi An Jiao Tong Univ, Coll Stomatol, Dept Orthodont, Xian, Shaanxi, Peoples R China Xi An Jiao Tong Univ, Coll Stomatol, Key Lab Shaanxi Prov Craniofacial Precis Med Res, Xian, Shaanxi, Peoples R ChinaDing, Yi论文数: 0 引用数: 0 h-index: 0机构: Xi An Jiao Tong Univ, Sch Basic Med Sci, Dept Physiol & Pathophysiol, Xian, Shaanxi, Peoples R China Xi An Jiao Tong Univ, Coll Stomatol, Key Lab Shaanxi Prov Craniofacial Precis Med Res, Xian, Shaanxi, Peoples R ChinaZhang, Yue论文数: 0 引用数: 0 h-index: 0机构: Xinjiang Med Univ, Affiliated Hosp 5, Dept Stomatol, Urumqi, Xinjiang, Peoples R China Xinjiang Med Univ, Affiliated Hosp 5, Dept Stomatol, 118 Henan West Rd, Urumqi 830000, Xinjiang, Peoples R China Xi An Jiao Tong Univ, Coll Stomatol, Key Lab Shaanxi Prov Craniofacial Precis Med Res, Xian, Shaanxi, Peoples R ChinaHuang, Huimei论文数: 0 引用数: 0 h-index: 0机构: Xi An Jiao Tong Univ, Xian Childrens Hosp, Affiliated Childrens Hosp, Dept Nephrol, Xian, Shaanxi, Peoples R China Xi An Jiao Tong Univ, Xian Childrens Hosp, Dept Nephrol, Affiliated Childrens Hosp, 69,Xijuyuanxiang Rd, Xian 710003, Shaanxi, Peoples R China Xi An Jiao Tong Univ, Coll Stomatol, Key Lab Shaanxi Prov Craniofacial Precis Med Res, Xian, Shaanxi, Peoples R ChinaZhao, Huaxiang论文数: 0 引用数: 0 h-index: 0机构: Xi An Jiao Tong Univ, Coll Stomatol, Key Lab Shaanxi Prov Craniofacial Precis Med Res, Xian, Shaanxi, Peoples R China Xi An Jiao Tong Univ, Coll Stomatol, Dept Orthodont, Xian, Shaanxi, Peoples R China Xi An Jiao Tong Univ, Coll Stomatol, Key Lab Shaanxi Prov Craniofacial Precis Med Res, 98,Xiwu Rd, Xian 710004, Shaanxi, Peoples R China Xi An Jiao Tong Univ, Coll Stomatol, Key Lab Shaanxi Prov Craniofacial Precis Med Res, Xian, Shaanxi, Peoples R China
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