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- [31] De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomaliesEUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 (03) : 378 - 383Hamanaka, Kohei论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, JapanSugawara, Yuji论文数: 0 引用数: 0 h-index: 0机构: Soka Municipal Hosp, Dept Pediat, Soka, Saitama 3408560, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, JapanShimoji, Takeyoshi论文数: 0 引用数: 0 h-index: 0机构: Okinawa Pref Nanbu Med Ctr, Dept Neurosurg, Arakawa Haebaru, Okinawa 9011193, Japan Childrens Med Ctr, Arakawa Haebaru, Okinawa 9011193, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, JapanNordtveit, Tone Irene论文数: 0 引用数: 0 h-index: 0机构: Haukeland Hosp, Dept Med Genet, N-5021 Bergen, Norway Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, JapanKato, Mitsuhiro论文数: 0 引用数: 0 h-index: 0机构: Showa Univ, Dept Pediat, Sch Med, Tokyo 1428666, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, JapanNakashima, Mitsuko论文数: 0 引用数: 0 h-index: 0机构: Showa Univ, Dept Pediat, Sch Med, Tokyo 1428666, Japan Hamamatsu Univ Sch Med, Dept Biochem, Hamamatsu, Shizuoka 4313192, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan论文数: 引用数: h-index:机构:Suzuki, Toshimitsu论文数: 0 引用数: 0 h-index: 0机构: RIKEN, Lab Neurogenet, Ctr Brain Sci, Wako, Saitama 3510198, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, JapanYamakawa, Kazuhiro论文数: 0 引用数: 0 h-index: 0机构: RIKEN, Lab Neurogenet, Ctr Brain Sci, Wako, Saitama 3510198, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, JapanAukrust, Ingvild论文数: 0 引用数: 0 h-index: 0机构: Haukeland Hosp, Dept Med Genet, N-5021 Bergen, Norway Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, JapanHouge, Gunnar论文数: 0 引用数: 0 h-index: 0机构: Haukeland Hosp, Dept Med Genet, N-5021 Bergen, Norway Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, JapanMitsuhashi, Satomi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, JapanTakata, Atsushi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, JapanIwama, Kazuhiro论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, JapanAlkanaq, Ahmed论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, JapanFujita, Atsushi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, JapanImagawa, Eri论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, JapanMizuguchi, Takeshi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, JapanMiyake, Noriko论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan论文数: 引用数: h-index:机构:Matsumoto, Naomichi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan
- [32] De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?PEDIATRIC RESEARCH, 2016, 80 (06) : 809 - 815Caro-Llopis, Alfonso论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ & Politecn La Fe, Genet Unit, Valencia, Spain Hosp Univ & Politecn La Fe, Genet Unit, Valencia, SpainRosello, Monica论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ & Politecn La Fe, Genet Unit, Valencia, Spain Hosp Univ & Politecn La Fe, Genet Unit, Valencia, SpainOrellana, Carmen论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ & Politecn La Fe, Genet Unit, Valencia, Spain Hosp Univ & Politecn La Fe, Genet Unit, Valencia, SpainOltra, Silvestre论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ & Politecn La Fe, Genet Unit, Valencia, Spain Hosp Univ & Politecn La Fe, Genet Unit, Valencia, SpainMonfort, Sandra论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ & Politecn La Fe, Genet Unit, Valencia, Spain Hosp Univ & Politecn La Fe, Genet Unit, Valencia, SpainMayo, Sonia论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ & Politecn La Fe, Genet Unit, Valencia, Spain Hosp Univ & Politecn La Fe, Genet Unit, Valencia, SpainMartinez, Francisco论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ & Politecn La Fe, Genet Unit, Valencia, Spain Hosp Univ & Politecn La Fe, Genet Unit, Valencia, Spain
- [33] De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?Pediatric Research, 2016, 80 : 809 - 815Alfonso Caro-Llopis论文数: 0 引用数: 0 h-index: 0机构: Genetics Unit,Monica Rosello论文数: 0 引用数: 0 h-index: 0机构: Genetics Unit,Carmen Orellana论文数: 0 引用数: 0 h-index: 0机构: Genetics Unit,Silvestre Oltra论文数: 0 引用数: 0 h-index: 0机构: Genetics Unit,Sandra Monfort论文数: 0 引用数: 0 h-index: 0机构: Genetics Unit,Sonia Mayo论文数: 0 引用数: 0 h-index: 0机构: Genetics Unit,Francisco Martinez论文数: 0 引用数: 0 h-index: 0机构: Genetics Unit,
- [34] De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech ImpairmentAMERICAN JOURNAL OF HUMAN GENETICS, 2015, 97 (03) : 493 - 500Hempel, Maja论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyCremer, Kirsten论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyOckeloen, Charlotte W.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyLichtenbelt, Klaske D.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Med Genet, NL-3508 GA Utrecht, Netherlands Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyHerkert, Johanna C.论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 RB Groningen, Netherlands Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyDenecke, Jonas论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Eppendorf, Dept Pediat, D-20246 Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyHaack, Tobias B.论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyZink, Alexander M.论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyBecker, Jessica论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyWohlleber, Eva论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyJohannsen, Jessika论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Eppendorf, Dept Pediat, D-20246 Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyAlhaddad, Bader论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyPfundt, Rolph论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyFuchs, Sigrid论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyWieczorek, Dagmar论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Klinikum Essen, Inst Human Genet, D-45122 Essen, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyStrom, Tim M.论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, Germanyvan Gassen, Koen L. I.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Med Genet, NL-3508 GA Utrecht, Netherlands Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyKleefstra, Tjitske论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyKubisch, Christian论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyEngels, Hartmut论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, GermanyLessel, Davor论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, Germany
- [35] Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variantsMOLECULAR GENETICS & GENOMIC MEDICINE, 2022, 10 (04):Frisk, Sofia论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Ctr Mol Med, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Univ Hosp, Karolinska Univ Lab, Dept Clin Genet, Stockholm, Sweden Karolinska Inst, Ctr Mol Med, Dept Mol Med & Surg, Stockholm, SwedenWachtmeister, Alexandra论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Ctr Mol Med, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Inst, Ctr Mol Med, Dept Mol Med & Surg, Stockholm, SwedenLaurell, Tobias论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Ctr Mol Med, Dept Mol Med & Surg, Stockholm, Sweden Soder Sjukhuset, Dept Hand Surg, Stockholm, Sweden Karolinska Inst, Ctr Mol Med, Dept Mol Med & Surg, Stockholm, SwedenLindstrand, Anna论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Ctr Mol Med, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Univ Hosp, Karolinska Univ Lab, Dept Clin Genet, Stockholm, Sweden Karolinska Inst, Ctr Mol Med, Dept Mol Med & Surg, Stockholm, SwedenJantti, Nina论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Ctr Mol Med, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Univ Hosp, Karolinska Univ Lab, Dept Clin Genet, Stockholm, Sweden Karolinska Inst, Ctr Mol Med, Dept Mol Med & Surg, Stockholm, SwedenMalmgren, Helena论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Ctr Mol Med, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Univ Hosp, Karolinska Univ Lab, Dept Clin Genet, Stockholm, Sweden Karolinska Inst, Ctr Mol Med, Dept Mol Med & Surg, Stockholm, SwedenLagerstedt-Robinson, Kristina论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Ctr Mol Med, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Univ Hosp, Karolinska Univ Lab, Dept Clin Genet, Stockholm, Sweden Karolinska Inst, Ctr Mol Med, Dept Mol Med & Surg, Stockholm, SwedenTesi, Bianca论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Ctr Mol Med, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Univ Hosp, Karolinska Univ Lab, Dept Clin Genet, Stockholm, Sweden Karolinska Inst, Ctr Mol Med, Dept Mol Med & Surg, Stockholm, SwedenTaylan, Fulya论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Ctr Mol Med, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Univ Hosp, Karolinska Univ Lab, Dept Clin Genet, Stockholm, Sweden Karolinska Inst, Ctr Mol Med, Dept Mol Med & Surg, Stockholm, SwedenNordgren, Ann论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Ctr Mol Med, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Univ Hosp, Karolinska Univ Lab, Dept Clin Genet, Stockholm, Sweden Karolinska Inst, Ctr Mol Med, Dept Mol Med & Surg, Stockholm, Sweden
- [36] De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language ImpairmentAMERICAN JOURNAL OF HUMAN GENETICS, 2010, 87 (05) : 671 - 678Hamdan, Fadi F.论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Ctr Excellence Neur, St Justine Hosp, Res Ctr, Montreal, PQ H3T 1C5, Canada Univ Montreal, Ctr Excellence Neur, St Justine Hosp, Res Ctr, Montreal, PQ H3T 1C5, CanadaDaoud, Hussein论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal & Dept Med, Ctr Excellence Neur, Montreal, PQ H2L 2W5, Canada Univ Montreal, Ctr Excellence Neur, St Justine Hosp, Res Ctr, Montreal, PQ H3T 1C5, CanadaRochefort, Daniel论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal & Dept Med, Ctr Excellence Neur, Montreal, PQ H2L 2W5, Canada Univ Montreal, Ctr Excellence Neur, St Justine Hosp, Res Ctr, Montreal, PQ H3T 1C5, CanadaPiton, Amelie论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal & Dept Med, Ctr Excellence Neur, Montreal, PQ H2L 2W5, Canada Univ Montreal, Ctr Excellence Neur, St Justine Hosp, Res Ctr, Montreal, PQ H3T 1C5, CanadaGauthier, Julie论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal & Dept Med, Ctr Excellence Neur, Montreal, PQ H2L 2W5, Canada Univ Montreal, Ctr Excellence Neur, St Justine Hosp, Res Ctr, Montreal, PQ H3T 1C5, CanadaLanglois, Mathieu论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Beaulieu Saucier Univ Montreal, Pharmacogenom Ctr, Montreal, PQ H1T 1C8, Canada Univ Montreal, Ctr Excellence Neur, St Justine Hosp, Res Ctr, Montreal, PQ H3T 1C5, CanadaFoomani, Gila论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Psychiat, Montreal Childrens Hosp, Montreal, PQ H3Z 1P2, Canada Univ Montreal, Ctr Excellence Neur, St Justine Hosp, Res Ctr, Montreal, PQ H3T 1C5, CanadaDobrzeniecka, Sylvia论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal & Dept Med, Ctr Excellence Neur, Montreal, PQ H2L 2W5, Canada Univ Montreal, Ctr Excellence Neur, St Justine Hosp, Res Ctr, Montreal, PQ H3T 1C5, CanadaKrebs, Marie-Odile论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, INSERM, U894, St Anne Hosp, F-75014 Paris, France Univ Montreal, Ctr Excellence Neur, St Justine Hosp, Res Ctr, Montreal, PQ H3T 1C5, CanadaJoober, Ridha论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Psychiat, Douglas Mental Hlth Univ Inst, Montreal, PQ H3A 1A1, Canada Univ Montreal, Ctr Excellence Neur, St Justine Hosp, Res Ctr, Montreal, PQ H3T 1C5, CanadaLafreniere, Ronald G.论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal & Dept Med, Ctr Excellence Neur, Montreal, PQ H2L 2W5, Canada Univ Montreal, Ctr Excellence Neur, St Justine Hosp, Res Ctr, Montreal, PQ H3T 1C5, CanadaLacaille, Jean-Claude论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Dept Physiol, Grp Rech Syst Nerveux Cent, Montreal, PQ H3C 3J7, Canada Univ Montreal, Ctr Excellence Neur, St Justine Hosp, Res Ctr, Montreal, PQ H3T 1C5, CanadaMottron, Laurent论文数: 0 引用数: 0 h-index: 0机构: Hop Riviere Prairies, Ctr Rech Fernand Seguin, Montreal, PQ H1E 1A4, Canada Univ Montreal, Ctr Excellence Neur, St Justine Hosp, Res Ctr, Montreal, PQ H3T 1C5, CanadaDrapeau, Pierre论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Dept Pathol & Cell Biol, Montreal, PQ H3C 3J7, Canada Univ Montreal, Ctr Excellence Neur, St Justine Hosp, Res Ctr, Montreal, PQ H3T 1C5, CanadaBeauchamp, Miriam H.论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Ctr Excellence Neur, St Justine Hosp, Res Ctr, Montreal, PQ H3T 1C5, Canada Univ Montreal, Dept Psychol, Montreal, PQ H3C 3J7, Canada Univ Montreal, Ctr Excellence Neur, St Justine Hosp, Res Ctr, Montreal, PQ H3T 1C5, CanadaPhillips, Michael S.论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Beaulieu Saucier Univ Montreal, Pharmacogenom Ctr, Montreal, PQ H1T 1C8, Canada Univ Montreal, Ctr Excellence Neur, St Justine Hosp, Res Ctr, Montreal, PQ H3T 1C5, CanadaFombonne, Eric论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Psychiat, Montreal Childrens Hosp, Montreal, PQ H3Z 1P2, Canada Univ Montreal, Ctr Excellence Neur, St Justine Hosp, Res Ctr, Montreal, PQ H3T 1C5, CanadaRouleau, Guy A.论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Ctr Excellence Neur, St Justine Hosp, Res Ctr, Montreal, PQ H3T 1C5, Canada Univ Montreal & Dept Med, Ctr Excellence Neur, Montreal, PQ H2L 2W5, Canada Univ Montreal, Ctr Excellence Neur, St Justine Hosp, Res Ctr, Montreal, PQ H3T 1C5, CanadaMichaud, Jacques L.论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Ctr Excellence Neur, St Justine Hosp, Res Ctr, Montreal, PQ H3T 1C5, Canada Univ Montreal, Ctr Excellence Neur, St Justine Hosp, Res Ctr, Montreal, PQ H3T 1C5, Canada
- [37] De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to ThriveAMERICAN JOURNAL OF HUMAN GENETICS, 2016, 99 (03) : 720 - 727Tokita, Mari J.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Miraca Genet Labs, Houston, TX 77021 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USABraxton, Alicia 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 Baylor Miraca Genet Labs, Houston, TX 77021 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAShao, Yunru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, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USALewis, Andrea M.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, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAVincent, Marie论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Nantes, Gen Med Serv, F-44093 Nantes 1, France Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAKury, Sebastien论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Nantes, Gen Med Serv, F-44093 Nantes 1, France Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA论文数: 引用数: h-index:机构:Isidor, Bertrand论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Nantes, Gen Med Serv, F-44093 Nantes 1, France INSERM, UMR S 957, 1 Rue Gaston Veil, F-44035 Nantes, France Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USALatypova, Xenia论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Nantes, Gen Med Serv, F-44093 Nantes 1, France Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USABezieau, Stephane论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Nantes, Gen Med Serv, F-44093 Nantes 1, France Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USALiu, Pengfei论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Miraca Genet Labs, Houston, TX 77021 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAMotter, Connie S.论文数: 0 引用数: 0 h-index: 0机构: Akron Childrens Hosp, Genet Ctr, Akron, OH 44302 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAMelver, Catherine Ward论文数: 0 引用数: 0 h-index: 0机构: Akron Childrens Hosp, Genet Ctr, Akron, OH 44302 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USARobin, Nathaniel H.论文数: 0 引用数: 0 h-index: 0机构: Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAInfante, Elena M.论文数: 0 引用数: 0 h-index: 0机构: Univ Pittsburgh, Sch Med, Pittsburgh, PA 15224 USA Childrens Hosp Pittsburgh, Pittsburgh, PA 15224 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAMcGuire, Marianne论文数: 0 引用数: 0 h-index: 0机构: Baylor Miraca Genet Labs, Houston, TX 77021 USA Univ Pittsburgh, Sch Med, 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USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USASchaaf, Christian P.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, Houston, TX 77030 USA Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAWalkiewicz, Magdalena 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 Baylor Miraca Genet Labs, Houston, TX 77021 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
- [38] De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsyJOURNAL OF MEDICAL GENETICS, 2016, 53 (12) : 850 - 858de Lange, Iris M.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, NetherlandsHelbig, Katherine L.论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Div Clin Genom, Aliso Viejo, CA USA Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, NetherlandsWeckhuysen, Sarah论文数: 0 引用数: 0 h-index: 0机构: UPMC Univ Paris 06, Sorbonne Univ,ICM,Ctr Reference Epilepsies Rares, Hop La Pitie Salpetriere,Inst Cerveau & Moelle Ep, AP HP,CNRS,UMR 7225,Inserm,U1127,Epilepsy Unit,UM, Paris, France VIB, Dept Mol Genet, Neurogenet Grp, Antwerp, Belgium Univ Antwerp, Inst Born Bunge, Lab Neurogenet, Antwerp, Belgium Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, NetherlandsMoller, Rikke S.论文数: 0 引用数: 0 h-index: 0机构: Danish Epilepsy Ctr, Dianalund, Denmark Univ Southern Denmark, Inst Reg Hlth Serv, Odense, Denmark Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, NetherlandsVelinov, Milen论文数: 0 引用数: 0 h-index: 0机构: New York State Inst Basic Res Dev Disabil, Staten Isl, NY USA Albert Einstein Coll Med, Bronx, NY 10467 USA Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, NetherlandsDolzhanskaya, Natalia论文数: 0 引用数: 0 h-index: 0机构: New York State Inst Basic Res Dev Disabil, Staten Isl, NY USA Albert Einstein Coll Med, Bronx, NY 10467 USA Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, NetherlandsMarsh, Eric论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Neurol, Philadelphia, PA 19104 USA Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, NetherlandsHelbig, Ingo论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Neurol, Philadelphia, PA 19104 USA Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, NetherlandsDevinsky, Orrin论文数: 0 引用数: 0 h-index: 0机构: NYU, Langone Med Ctr, Comprehens Epilepsy Ctr, New York, NY USA Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, NetherlandsTang, Sha论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, NetherlandsMefford, Heather C.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat, Div Med Genet, Seattle, WA 98195 USA Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, NetherlandsMyers, Candace T.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat, Div Med Genet, Seattle, WA 98195 USA Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlandsvan Paesschen, Wim论文数: 0 引用数: 0 h-index: 0机构: UZ Leuven, Dept Neurol, Leuven, Belgium Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, NetherlandsStriano, Pasquale论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, G Gaslini Inst, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlandsvan Gassen, Koen论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlandsvan Kempen, Marjan论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands North York Gen Hosp, Genet Program, Toronto, ON, Canada Mt Sinai Hosp, Prenatal Diag & Med Genet, Toronto, ON, Canada Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlandsde Kovel, Carolien G. F.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, NetherlandsPiard, Juliette论文数: 0 引用数: 0 h-index: 0机构: Univ Franche Comte, Ctr Genet Humaine, Besancon, France Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, NetherlandsMinassian, Berge A.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Dept Paediat, Div Neurol, Toronto, ON, Canada Univ Toronto, Toronto, ON, Canada Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, NetherlandsNezarati, Marjan M.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, NetherlandsPessoa, Andre论文数: 0 引用数: 0 h-index: 0机构: Univ Fortaleza, Fortaleza, Ceara, Brazil Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, NetherlandsJacquette, Aurelia论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, GHU Pitie Salpetriere, Serv Genet, Paris, France Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, NetherlandsMaher, Bridget论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, London, England Epilepsy Soc, Bucks, England Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, NetherlandsBalestrini, Simona论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, London, England Epilepsy Soc, Bucks, England Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, NetherlandsSisodiya, Sanjay论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, London, England Epilepsy Soc, Bucks, England Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, NetherlandsWarde, Marie Therese Abi论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Strasbourg, Serv Pediat, Strasbourg, France Univ Strasbourg, Inst Genet & Biol Mol & Cellulaire, Illkirch Graffenstaden, France Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, NetherlandsDe St Martin, Anne论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Strasbourg, Serv Pediat, Strasbourg, France Univ Strasbourg, Inst Genet & Biol Mol & Cellulaire, Illkirch Graffenstaden, France Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, NetherlandsChelly, Jamel论文数: 0 引用数: 0 h-index: 0机构: Univ Strasbourg, Inst Genet & Biol Mol & Cellulaire, Illkirch Graffenstaden, France Hop Univ Strasbourg, Hop Civil Strasbourg, Serv Diagnost Genet, Strasbourg, France Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlandsvan 't Slot, Ruben论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, NetherlandsVan Maldergem, Lionel论文数: 0 引用数: 0 h-index: 0机构: Univ Franche Comte, Ctr Genet Humaine, Besancon, France Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, NetherlandsBrilstra, Eva H.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, NetherlandsKoeleman, Bobby P. C.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands
- [39] A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disabilityEUROPEAN JOURNAL OF HUMAN GENETICS, 2016, 24 (06) : 838 - 843Mosca-Boidron, Anne-Laure论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon, Lab Cytogenet, Plateau Tech Biol, 2 Rue Angel Ducoudray,BP 37013, F-21070 Dijon, France Univ Bourgogne, Fac Med, Equipe Genet & Anomalies Dev, Dijon, France Inserm U1079, IRIB, Rouen, France CHU Dijon, Lab Cytogenet, Plateau Tech Biol, 2 Rue Angel Ducoudray,BP 37013, F-21070 Dijon, FranceGueneau, Lucie论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne, Fac Med, Equipe Genet & Anomalies Dev, Dijon, France Inserm U1079, IRIB, Rouen, France CHU Dijon, Lab Cytogenet, Plateau Tech Biol, 2 Rue Angel Ducoudray,BP 37013, F-21070 Dijon, FranceHuguet, Guillaume论文数: 0 引用数: 0 h-index: 0机构: Inst Pasteur, Human Genet & Cognit Funct Unit, Paris, France CNRS UMR 3571, Inst Pasteur, Genes Synapses & Cognit, Paris, France Univ Paris Diderot, Sorbonne Paris Cite, Human Genet & Cognit 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