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- [41] All reported non-canonical splice site variants in GLA cause aberrant splicingCLINICAL AND EXPERIMENTAL NEPHROLOGY, 2023, 27 (09) : 737 - 746论文数: 引用数: h-index:机构:Horinouchi, Tomoko论文数: 0 引用数: 0 h-index: 0机构: Kobe Univ, Dept Pediat, Grad Sch Med, 7-5-1 Kusunoki Cho,Chuo Ku, Kobe, Hyogo 6500017, Japan Kobe Univ, Dept Pediat, Grad Sch Med, 7-5-1 Kusunoki Cho,Chuo Ku, Kobe, Hyogo 6500017, JapanYamamura, Tomohiko论文数: 0 引用数: 0 h-index: 0机构: Kobe Univ, Dept Pediat, Grad Sch Med, 7-5-1 Kusunoki Cho,Chuo Ku, Kobe, Hyogo 6500017, Japan Kobe Univ, Dept Pediat, Grad Sch Med, 7-5-1 Kusunoki Cho,Chuo Ku, Kobe, Hyogo 6500017, JapanAoto, Yuya论文数: 0 引用数: 0 h-index: 0机构: Kobe Univ, Dept Pediat, Grad Sch Med, 7-5-1 Kusunoki Cho,Chuo Ku, Kobe, Hyogo 6500017, Japan Kobe Univ, Dept Pediat, Grad Sch Med, 7-5-1 Kusunoki Cho,Chuo Ku, Kobe, Hyogo 6500017, JapanSuzuki, Ryota论文数: 0 引用数: 0 h-index: 0机构: Kobe Univ, Dept Pediat, Grad Sch Med, 7-5-1 Kusunoki Cho,Chuo Ku, Kobe, Hyogo 6500017, Japan Hokkaido Univ, Dept Pediat, Grad Sch Med, Sapporo, Japan Kobe Univ, Dept Pediat, Grad Sch Med, 7-5-1 Kusunoki Cho,Chuo Ku, Kobe, Hyogo 6500017, JapanIchikawa, Yuta论文数: 0 引用数: 0 h-index: 0机构: Kobe Univ, Dept Pediat, Grad Sch Med, 7-5-1 Kusunoki Cho,Chuo Ku, Kobe, Hyogo 6500017, Japan Kobe Univ, Dept Pediat, Grad Sch Med, 7-5-1 Kusunoki Cho,Chuo Ku, Kobe, Hyogo 6500017, JapanTanaka, Yu论文数: 0 引用数: 0 h-index: 0机构: Kobe Univ, Dept Pediat, Grad Sch Med, 7-5-1 Kusunoki Cho,Chuo Ku, Kobe, Hyogo 6500017, Japan Kobe Univ, Dept Pediat, Grad Sch Med, 7-5-1 Kusunoki Cho,Chuo Ku, Kobe, Hyogo 6500017, JapanMasuda, Chika论文数: 0 引用数: 0 h-index: 0机构: Kobe Univ, Dept Pediat, Grad Sch Med, 7-5-1 Kusunoki Cho,Chuo Ku, Kobe, Hyogo 6500017, Japan Kobe Univ, Dept Pediat, Grad Sch Med, 7-5-1 Kusunoki Cho,Chuo Ku, Kobe, Hyogo 6500017, JapanKitakado, Hideaki论文数: 0 引用数: 0 h-index: 0机构: Kobe Univ, Dept Pediat, Grad Sch Med, 7-5-1 Kusunoki Cho,Chuo Ku, Kobe, Hyogo 6500017, Japan Kobe Univ, Dept Pediat, Grad Sch Med, 7-5-1 Kusunoki Cho,Chuo Ku, Kobe, Hyogo 6500017, JapanKondo, Atsushi论文数: 0 引用数: 0 h-index: 0机构: Kobe Univ, Dept Pediat, Grad Sch Med, 7-5-1 Kusunoki Cho,Chuo Ku, Kobe, Hyogo 6500017, Japan Kobe Univ, Dept Pediat, Grad Sch Med, 7-5-1 Kusunoki Cho,Chuo Ku, Kobe, Hyogo 6500017, Japan论文数: 引用数: h-index:机构:Ishiko, Shinya论文数: 0 引用数: 0 h-index: 0机构: Kobe Univ, Dept Pediat, Grad Sch Med, 7-5-1 Kusunoki Cho,Chuo Ku, Kobe, Hyogo 6500017, Japan Kobe Univ, Dept Pediat, Grad Sch Med, 7-5-1 Kusunoki Cho,Chuo Ku, Kobe, Hyogo 6500017, JapanNagano, China论文数: 0 引用数: 0 h-index: 0机构: Kobe Univ, Dept Pediat, Grad Sch Med, 7-5-1 Kusunoki Cho,Chuo Ku, Kobe, Hyogo 6500017, Japan Kobe Univ, Dept Pediat, Grad Sch Med, 7-5-1 Kusunoki Cho,Chuo Ku, Kobe, Hyogo 6500017, Japan论文数: 引用数: h-index:机构:Usui, Joichi论文数: 0 引用数: 0 h-index: 0机构: Univ Tsukuba, Fac Med, Dept Nephrol, Tsukuba, Japan Kobe Univ, Dept Pediat, Grad Sch Med, 7-5-1 Kusunoki Cho,Chuo Ku, Kobe, Hyogo 6500017, JapanYamagata, Kunihiro论文数: 0 引用数: 0 h-index: 0机构: Univ Tsukuba, Fac Med, Dept Nephrol, Tsukuba, Japan Kobe Univ, Dept Pediat, Grad Sch Med, 7-5-1 Kusunoki Cho,Chuo Ku, Kobe, Hyogo 6500017, Japan论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:
- [42] Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variantsHUMAN MUTATION, 2018, 39 (11) : 1553 - 1568Lee, Kristy论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USAKrempely, Kate论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA 92656 USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USARoberts, Maegan E.论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USAAnderson, Michael J.论文数: 0 引用数: 0 h-index: 0机构: InvitaeCorp, San Francisco, CA USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USACarneiro, Fatima论文数: 0 引用数: 0 h-index: 0机构: Univ Porto, i3S, Porto, Portugal Univ Porto, Ipatimup, Inst Mol Pathol & Immunol, Porto, Portugal Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USAChao, Elizabeth论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA 92656 USA Univ Calif Irvine, Irvine, CA USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USADixon, Katherine论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Vancouver, BC, Canada Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USA论文数: 引用数: h-index:机构:Ghosh, Rajarshi论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Houston, TX 77030 USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USAHuntsman, David论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Vancouver, BC, Canada Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USAKaurah, Pardeep论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Vancouver, BC, Canada Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USAKesserwan, Chimene论文数: 0 引用数: 0 h-index: 0机构: St Jude Childrens Res Hosp, 332 N Lauderdale St, Memphis, TN 38105 USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USALandrith, Tyler论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA 92656 USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USALi, Shuwei论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA 92656 USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USAMensenkamp, Arjen R.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen, Netherlands Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USA论文数: 引用数: h-index:机构:Pardo, Carolina论文数: 0 引用数: 0 h-index: 0机构: InvitaeCorp, San Francisco, CA USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USAPesaran, Tina论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA 92656 USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USARichardson, Matthew论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Vancouver, BC, Canada Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USASlavin, Thomas P.论文数: 0 引用数: 0 h-index: 0机构: City Hope Natl Med Ctr, Dept Med Oncol & Therapeut Res, Duarte, CA USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USASpurdle, Amanda B.论文数: 0 引用数: 0 h-index: 0机构: QIMR Berghofer Med Res Inst, Brisbane, Qld, Australia Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USATrapp, Mackenzie论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USAWitkowski, Leora论文数: 0 引用数: 0 h-index: 0机构: Partners Healthcare Personalized Med, Lab Mol Med, Cambridge, MA USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USAYi, Charles S.论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA 92656 USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USAZhang, Liying论文数: 0 引用数: 0 h-index: 0机构: Mem Sloan Kettering Canc Ctr, Memorial Sloan Kettering, 1275 York Ave, New York, NY 10021 USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USAPlon, Sharon E.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Houston, TX 77030 USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USASchrader, Kasmintan A.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Vancouver, BC, Canada Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USAKaram, Rachid论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA 92656 USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USA
- [43] All reported non-canonical splice site variants in GLA cause aberrant splicingClinical and Experimental Nephrology, 2023, 27 : 737 - 746Eri Okada论文数: 0 引用数: 0 h-index: 0机构: Kobe University Graduate School of Medicine,Department of PediatricsTomoko Horinouchi论文数: 0 引用数: 0 h-index: 0机构: Kobe University Graduate School of Medicine,Department of PediatricsTomohiko Yamamura论文数: 0 引用数: 0 h-index: 0机构: Kobe University Graduate School of Medicine,Department of PediatricsYuya Aoto论文数: 0 引用数: 0 h-index: 0机构: Kobe University Graduate School of Medicine,Department of PediatricsRyota Suzuki论文数: 0 引用数: 0 h-index: 0机构: Kobe University Graduate School of Medicine,Department of PediatricsYuta Ichikawa论文数: 0 引用数: 0 h-index: 0机构: Kobe University Graduate School of Medicine,Department of PediatricsYu Tanaka论文数: 0 引用数: 0 h-index: 0机构: Kobe University Graduate School of Medicine,Department of PediatricsChika Masuda论文数: 0 引用数: 0 h-index: 0机构: Kobe University Graduate School of Medicine,Department of PediatricsHideaki Kitakado论文数: 0 引用数: 0 h-index: 0机构: Kobe University Graduate School of Medicine,Department of PediatricsAtsushi Kondo论文数: 0 引用数: 0 h-index: 0机构: Kobe University Graduate School of Medicine,Department of PediatricsNana Sakakibara论文数: 0 引用数: 0 h-index: 0机构: Kobe University Graduate School of Medicine,Department of PediatricsShinya Ishiko论文数: 0 引用数: 0 h-index: 0机构: Kobe University Graduate School of Medicine,Department of PediatricsChina Nagano论文数: 0 引用数: 0 h-index: 0机构: Kobe University Graduate School of Medicine,Department of PediatricsShingo Ishimori论文数: 0 引用数: 0 h-index: 0机构: Kobe University Graduate School of Medicine,Department of PediatricsJoichi Usui论文数: 0 引用数: 0 h-index: 0机构: Kobe University Graduate School of Medicine,Department of PediatricsKunihiro Yamagata论文数: 0 引用数: 0 h-index: 0机构: Kobe University Graduate School of Medicine,Department of PediatricsMasafumi Matsuo论文数: 0 引用数: 0 h-index: 0机构: Kobe University Graduate School of Medicine,Department of PediatricsKandai Nozu论文数: 0 引用数: 0 h-index: 0机构: Kobe University Graduate School of Medicine,Department of Pediatrics
- [44] Management of Pathogenic CDH1 Variant Carriers Within the FREGAT Network A Multicentric Retrospective StudyANNALS OF SURGERY, 2022, 276 (05) : 830 - 837Bres, Capucine论文数: 0 引用数: 0 h-index: 0机构: CHU Lille, Dept Digest & Oncol Surg, Claude Huriez Hosp, Lille, France CHU Lille, Dept Digest & Oncol Surg, Claude Huriez Hosp, Lille, FranceVoron, Thibault论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, St Antoine Hosp, APHP, Dept Digest Surg, Paris, France CHU Lille, Dept Digest & Oncol Surg, Claude Huriez Hosp, Lille, FranceBenhaim, Leonor论文数: 0 引用数: 0 h-index: 0机构: Gustave Roussy, Dept Digest Surg, Villejuif, France CHU Lille, Dept Digest & Oncol Surg, Claude Huriez Hosp, Lille, FranceBergeat, Damien论文数: 0 引用数: 0 h-index: 0机构: CHU Rennes, Dept Digest Surg, Rennes, France CHU Lille, Dept Digest & Oncol Surg, Claude Huriez Hosp, Lille, FranceParc, Yann论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, St Antoine Hosp, APHP, Dept Digest Surg, Paris, France CHU Lille, Dept Digest & Oncol Surg, Claude Huriez Hosp, Lille, FranceKaroui, Mehdi论文数: 0 引用数: 0 h-index: 0机构: Georges Pompidou European Hosp, AP HP, Dept Digest Surg, Paris, France CHU Lille, Dept Digest & Oncol Surg, Claude Huriez Hosp, Lille, FranceGenser, Laurent论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Pitie Salpetriere Hosp, APHP, Dept Digest Surg, Paris, France CHU Lille, Dept Digest & Oncol Surg, Claude Huriez Hosp, Lille, FrancePere, Guillaume论文数: 0 引用数: 0 h-index: 0机构: CHU Toulouse, Dept Digest Surg, Toulouse, France CHU Lille, Dept Digest & Oncol Surg, Claude Huriez Hosp, Lille, FranceDemma, Jonathan A.论文数: 0 引用数: 0 h-index: 0机构: CHU St Louis, Dept Digest Surg, Paris, France CHU Lille, Dept Digest & Oncol Surg, Claude Huriez Hosp, Lille, FranceBacoeur-Ouzillou, Ophelie论文数: 0 引用数: 0 h-index: 0机构: CHU Clermont Ferrand, Dept Digest Surg, Clermont Ferrand, France CHU Lille, Dept Digest & Oncol Surg, Claude Huriez Hosp, Lille, FranceLebreton, Gil论文数: 0 引用数: 0 h-index: 0机构: CHU Caen, Dept Digest Surg, Caen, France CHU Lille, Dept Digest & Oncol Surg, Claude Huriez Hosp, Lille, FranceThereaux, Jeremie论文数: 0 引用数: 0 h-index: 0机构: CHU Brest, Dept Digest Surg, Brest, France CHU Lille, Dept Digest & Oncol Surg, Claude Huriez Hosp, Lille, FranceGronnier, Caroline论文数: 0 引用数: 0 h-index: 0机构: CHU Bordeaux, Dept Digest Surg, Bordeaux, France CHU Lille, Dept Digest & Oncol Surg, Claude Huriez Hosp, Lille, FranceDartigues, Peggy论文数: 0 引用数: 0 h-index: 0机构: Gustave Roussy, Dept Pathol, Villejuif, France CHU Lille, Dept Digest & Oncol Surg, Claude Huriez Hosp, Lille, FranceSvrcek, Magali论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Hop St Antoine, AP HP, Dept Pathol, Paris, France CHU Lille, Dept Digest & Oncol Surg, Claude Huriez Hosp, Lille, FranceBouzille, Guillaume论文数: 0 引用数: 0 h-index: 0机构: CHU Rennes, Dept Med Informat, Rennes, France CHU Lille, Dept Digest & Oncol Surg, Claude Huriez Hosp, Lille, FranceBardier, Armelle论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Pitie Salpetriere Hosp, APHP, Dept Digest Surg, Paris, France CHU Lille, Dept Digest & Oncol Surg, Claude Huriez Hosp, Lille, FranceBrunac, Anne C.论文数: 0 引用数: 0 h-index: 0机构: Canc Univ Inst Toulouse Oncopole IUCT, Dept Pathol, Toulouse, France CHU Toulouse, Toulouse, France CHU Lille, Dept Digest & Oncol Surg, Claude Huriez Hosp, Lille, FranceRoche, Brigitte论文数: 0 引用数: 0 h-index: 0机构: CHU St Louis, AP HP, Dept Pathol, Paris, France CHU Lille, Dept Digest & Oncol Surg, Claude Huriez Hosp, Lille, FranceDarcha, Claude论文数: 0 引用数: 0 h-index: 0机构: CHU Clermont Ferrand, Dept Pathol, Clermont Ferrand, France CHU Lille, Dept Digest & Oncol Surg, Claude Huriez Hosp, Lille, FranceBazille, Celine论文数: 0 引用数: 0 h-index: 0机构: CHU Caen, Dept Pathol, Caen, France CHU Lille, Dept Digest & Oncol Surg, Claude Huriez Hosp, Lille, FranceDoucet, Laurent论文数: 0 引用数: 0 h-index: 0机构: CHU Brest, Dept Pathol, Brest, France CHU Lille, Dept Digest & Oncol Surg, Claude Huriez Hosp, Lille, FranceBelleannee, Genevieve论文数: 0 引用数: 0 h-index: 0机构: CHU Bordeaux, Dept Pathol, Bordeaux, France CHU Lille, Dept Digest & Oncol Surg, Claude Huriez Hosp, Lille, FranceLejeune, Sophie论文数: 0 引用数: 0 h-index: 0机构: CHU Lille, Dept Genet, Lille, France CHU Lille, Dept Digest & Oncol Surg, Claude Huriez Hosp, Lille, FranceBuisine, Marie P.论文数: 0 引用数: 0 h-index: 0机构: CHU Lille, Dept Mol Oncogenet, Lille, France Univ Lille, CHU Lille, INSERM, CNRS,UMR9020 U1277,CANTHER Canc Heterogene Plasti, Lille, France CHU Lille, Dept Digest & Oncol Surg, Claude Huriez Hosp, Lille, FranceRenaud, Florence论文数: 0 引用数: 0 h-index: 0机构: Univ Lille, CHU Lille, INSERM, CNRS,UMR9020 U1277,CANTHER Canc Heterogene Plasti, Lille, France CHU Lille, Dept Pathol, Biol Pathol Ctr, F-59000 Lille, France CHU Lille, Dept Digest & Oncol Surg, Claude Huriez Hosp, Lille, FranceNuytens, Frederiek论文数: 0 引用数: 0 h-index: 0机构: AZ Groeninge Hosp, Dept Digest & Hepatobiliary Pancreat Surg, Kortrijk, Belgium CHU Lille, Dept Digest & Oncol Surg, Claude Huriez Hosp, Lille, FranceBenusiglio, Patrick R.论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, St Antoine Hosp, APHP, Dept Digest Surg, Paris, France Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, UF Clin Oncogenet,Dept Med Genet, Paris, France Sorbonne Univ, Universitary Inst Cancerol, Pitie Salpetriere Hosp, AP HP, Paris, France CHU Lille, Dept Digest & Oncol Surg, Claude Huriez Hosp, Lille, FranceVeziant, Julie论文数: 0 引用数: 0 h-index: 0机构: CHU Lille, Dept Digest & Oncol Surg, Claude Huriez Hosp, Lille, France CHU Lille, Dept Digest & Oncol Surg, Claude Huriez Hosp, Lille, FranceEveno, Clarisse论文数: 0 引用数: 0 h-index: 0机构: CHU Lille, Dept Digest & Oncol Surg, Claude Huriez Hosp, Lille, France Univ Lille, CHU Lille, INSERM, CNRS,UMR9020 U1277,CANTHER Canc Heterogene Plasti, Lille, France CHU Lille, Dept Digest & Oncol Surg, Claude Huriez Hosp, Lille, France论文数: 引用数: h-index:机构:
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