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- [21] Identification of new susceptibility genes in familial breast cancer by exome sequencingJOURNAL OF CLINICAL ONCOLOGY, 2012, 30 (15)Lynch, Henry T.论文数: 0 引用数: 0 h-index: 0机构: Creighton Univ, Omaha, NE 68178 USAWen, Hongxiu论文数: 0 引用数: 0 h-index: 0机构: Creighton Univ, Omaha, NE 68178 USAKim, Yeong论文数: 0 引用数: 0 h-index: 0机构: Creighton Univ, Omaha, NE 68178 USASnyder, Carrie论文数: 0 引用数: 0 h-index: 0机构: Creighton Univ, Omaha, NE 68178 USAKinarsky, Yulia论文数: 0 引用数: 0 h-index: 0机构: Creighton Univ, Omaha, NE 68178 USAChen, Pei Xian论文数: 0 引用数: 0 h-index: 0机构: Creighton Univ, Omaha, NE 68178 USACowan, Kenneth H.论文数: 0 引用数: 0 h-index: 0机构: Creighton Univ, Omaha, NE 68178 USAGoldgar, David论文数: 0 引用数: 0 h-index: 0机构: Creighton Univ, Omaha, NE 68178 USAWang, San Ming论文数: 0 引用数: 0 h-index: 0机构: Creighton Univ, Omaha, NE 68178 USA
- [22] Xeroderma Pigmentosum-Trichothiodystrophy overlap patient with novel XPD/ERCC2 mutationRARE DISEASES, 2013, 1 (01)Kralund, Henrik H.论文数: 0 引用数: 0 h-index: 0机构: Odense Univ Hosp, Dept Dermatol, Odense, Denmark Odense Univ Hosp, Allergy Ctr, Odense, Denmark Odense Univ Hosp, Dept Dermatol, Odense, DenmarkOusager, Lilian论文数: 0 引用数: 0 h-index: 0机构: Odense Univ Hosp, Dept Clin & Med Genet, Odense, Denmark Odense Univ Hosp, Dept Dermatol, Odense, DenmarkJaspers, Nicolaas G.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Genet, Rotterdam, Netherlands Odense Univ Hosp, Dept Dermatol, Odense, DenmarkRaams, Anja论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Genet, Rotterdam, Netherlands Odense Univ Hosp, Dept Dermatol, Odense, DenmarkPedersen, Erling B.论文数: 0 引用数: 0 h-index: 0机构: Univ Aarhus, Dept Med Res & Med, Aarhus, Denmark Holstebro Hosp, Aarhus, Denmark Odense Univ Hosp, Dept Dermatol, Odense, DenmarkGade, Else论文数: 0 引用数: 0 h-index: 0机构: Odense Univ Hosp, Dept Ophthalmol, Odense, Denmark Odense Univ Hosp, Dept Dermatol, Odense, DenmarkBygum, Anette论文数: 0 引用数: 0 h-index: 0机构: Odense Univ Hosp, Dept Dermatol, Odense, Denmark Odense Univ Hosp, Allergy Ctr, Odense, Denmark Odense Univ Hosp, Dept Dermatol, Odense, Denmark
- [23] Whole-Exome Sequencing Enables Rapid Determination of Xeroderma Pigmentosum Molecular EtiologyPLOS ONE, 2013, 8 (06):Ortega-Recalde, Oscar论文数: 0 引用数: 0 h-index: 0机构: Univ Rosario, Unidad Genet, Escuela Med & Ciencias Salud, Bogota, Colombia Univ Rosario, Unidad Genet, Escuela Med & Ciencias Salud, Bogota, ColombiaInes Vergara, Jessica论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Bucaramanga, Dept Dermatol, Bucaramanga, Colombia Clin Carlos Ardila Lulle, Unidad Dermatol, Bucaramanga, Colombia Univ Rosario, Unidad Genet, Escuela Med & Ciencias Salud, Bogota, ColombiaJaneth Fonseca, Dora论文数: 0 引用数: 0 h-index: 0机构: Univ Rosario, Unidad Genet, Escuela Med & Ciencias Salud, Bogota, Colombia Dept Biol Mol Genet Mol Colombia, Bogota, Colombia Univ Rosario, Unidad Genet, Escuela Med & Ciencias Salud, Bogota, ColombiaRios, Xiomara论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Bucaramanga, Dept Dermatol, Bucaramanga, Colombia Clin Carlos Ardila Lulle, Unidad Dermatol, Bucaramanga, Colombia Univ Rosario, Unidad Genet, Escuela Med & Ciencias Salud, Bogota, ColombiaMosquera, Hernando论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Bucaramanga, Dept Dermatol, Bucaramanga, Colombia Clin Carlos Ardila Lulle, Unidad Dermatol, Bucaramanga, Colombia Univ Rosario, Unidad Genet, Escuela Med & Ciencias Salud, Bogota, ColombiaMaria Bermudez, Olga论文数: 0 引用数: 0 h-index: 0机构: Univ Rosario, Unidad Genet, Escuela Med & Ciencias Salud, Bogota, Colombia Univ Rosario, Unidad Genet, Escuela Med & Ciencias Salud, Bogota, ColombiaLiliana Medina, Claudia论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Bucaramanga, Dept Dermatol, Bucaramanga, Colombia Clin Carlos Ardila Lulle, Unidad Dermatol, Bucaramanga, Colombia Univ Rosario, Unidad Genet, Escuela Med & Ciencias Salud, Bogota, ColombiaInes Vargas, Clara论文数: 0 引用数: 0 h-index: 0机构: Univ Ind Santander, Bucaramanga, Colombia Univ Rosario, Unidad Genet, Escuela Med & Ciencias Salud, Bogota, ColombiaEnrique Pallares, Argemiro论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Bucaramanga, Dept Dermatol, Bucaramanga, Colombia Clin Carlos Ardila Lulle, Unidad Dermatol, Bucaramanga, Colombia Univ Rosario, Unidad Genet, Escuela Med & Ciencias Salud, Bogota, ColombiaMartin Restrepo, Carlos论文数: 0 引用数: 0 h-index: 0机构: Univ Rosario, Unidad Genet, Escuela Med & Ciencias Salud, Bogota, Colombia Dept Biol Mol Genet Mol Colombia, Bogota, Colombia Univ Rosario, Unidad Genet, Escuela Med & Ciencias Salud, Bogota, ColombiaLaissue, Paul论文数: 0 引用数: 0 h-index: 0机构: Univ Rosario, Unidad Genet, Escuela Med & Ciencias Salud, Bogota, Colombia Dept Biol Mol Genet Mol Colombia, Bogota, Colombia Univ Rosario, Unidad Genet, Escuela Med & Ciencias Salud, Bogota, Colombia
- [24] Whole-Exome Sequencing Enables the Diagnosis of Variant-Type Xeroderma PigmentosumFRONTIERS IN GENETICS, 2019, 10Fang, Xiaokai论文数: 0 引用数: 0 h-index: 0机构: Shandong Univ, Shandong Prov Hosp Dermatol, Jinan, Shandong, Peoples R China Shandong Univ, Shandong Prov Hosp Dermatol, Jinan, Shandong, Peoples R ChinaSun, Yonghu论文数: 0 引用数: 0 h-index: 0机构: Shandong Univ, Shandong Prov Hosp Dermatol, Jinan, Shandong, Peoples R China Shandong Univ, Shandong Prov Hosp Dermatol, Jinan, Shandong, Peoples R China
- [25] Identification of novel hereditary cancer genes by whole exome sequencingCANCER LETTERS, 2015, 369 (02) : 274 - 288Sokolenko, Anna P.论文数: 0 引用数: 0 h-index: 0机构: NN Petrov Oncol Res Inst, Dept Tumor Growth Biol, St Petersburg 197758, Russia St Petersburg Pediat Med Univ, Dept Med Genet, St Petersburg 194100, Russia NN Petrov Oncol Res Inst, Dept Tumor Growth Biol, St Petersburg 197758, RussiaSuspitsin, Evgeny N.论文数: 0 引用数: 0 h-index: 0机构: NN Petrov Oncol Res Inst, Dept Tumor Growth Biol, St Petersburg 197758, Russia St Petersburg Pediat Med Univ, Dept Med Genet, St Petersburg 194100, Russia NN Petrov Oncol Res Inst, Dept Tumor Growth Biol, St Petersburg 197758, RussiaKuligina, Ekatherina Sh论文数: 0 引用数: 0 h-index: 0机构: NN Petrov Oncol Res Inst, Dept Tumor Growth Biol, St Petersburg 197758, Russia NN Petrov Oncol Res Inst, Dept Tumor Growth Biol, St Petersburg 197758, RussiaBizin, Ilya V.论文数: 0 引用数: 0 h-index: 0机构: St Petersburg State Polytech Univ, RASA Res Ctr, Lab Bioinformat, St Petersburg 195251, Russia NN Petrov Oncol Res Inst, Dept Tumor Growth Biol, St Petersburg 197758, RussiaFrishman, Dmitrij论文数: 0 引用数: 0 h-index: 0机构: TU Muenchen, Wissensch Zentrum Weihenstephan, Dept Bioinformat, D-85354 Freising Weihenstephan, Germany Helmholtz Ctr Munich, German Res Ctr Environm Hlth GmbH, Inst Bioinformat & Syst Biol, D-85764 Neuherberg, Germany NN Petrov Oncol Res Inst, Dept Tumor Growth Biol, St Petersburg 197758, RussiaImyanitov, Evgeny N.论文数: 0 引用数: 0 h-index: 0机构: NN Petrov Oncol Res Inst, Dept Tumor Growth Biol, St Petersburg 197758, Russia St Petersburg Pediat Med Univ, Dept Med Genet, St Petersburg 194100, Russia II Mechnikov North Western Med Univ, Dept Oncol, St Petersburg 191015, Russia St Petersburg State Univ, Dept Oncol, St Petersburg 199034, Russia NN Petrov Oncol Res Inst, Dept Tumor Growth Biol, St Petersburg 197758, Russia
- [26] Whole exome sequencing identification of novel candidate genes in patients with proliferative diabetic retinopathyVISION RESEARCH, 2017, 139 : 168 - 176Ung, Cindy论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Massachusetts Eye & Ear Infirmly, Dept Ophthalmol, Boston, MA USA Harvard Med Sch, Massachusetts Eye & Ear Infirmly, Dept Ophthalmol, Boston, MA USASanchez, Angie V.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Massachusetts Eye & Ear, Schepens Eye Res Inst, Dept Ophthalmol, Boston, MA USA Harvard Med Sch, Massachusetts Eye & Ear Infirmly, Dept Ophthalmol, Boston, MA USAShen, Lishuang论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Los Angeles, Ctr Personalized Med, Los Angeles, CA USA Harvard Med Sch, Massachusetts Eye & Ear Infirmly, Dept Ophthalmol, Boston, MA USADavoudi, Samaneh论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Massachusetts Eye & Ear Infirmly, Dept Ophthalmol, Boston, MA USA Harvard Med Sch, Massachusetts Eye & Ear Infirmly, Dept Ophthalmol, Boston, MA USAAhmadi, Tina论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Massachusetts Eye & Ear Infirmly, Dept Ophthalmol, Boston, MA USA Harvard Med Sch, Massachusetts Eye & Ear Infirmly, Dept Ophthalmol, Boston, MA USANavarro-Gomez, Daniel论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Massachusetts Eye & Ear Infirmly, Dept Ophthalmol, Boston, MA USA Harvard Med Sch, Massachusetts Eye & Ear Infirmly, Dept Ophthalmol, Boston, MA USAChen, Ching J.论文数: 0 引用数: 0 h-index: 0机构: Univ Mississippi, Med Ctr, Dept Ophthalmol, Jackson, MS 39216 USA Harvard Med Sch, Massachusetts Eye & Ear Infirmly, Dept Ophthalmol, Boston, MA USAHancock, Heather论文数: 0 引用数: 0 h-index: 0机构: Univ Mississippi, Med Ctr, Dept Ophthalmol, Jackson, MS 39216 USA Harvard Med Sch, Massachusetts Eye & Ear Infirmly, Dept Ophthalmol, Boston, MA USAPenman, Alan论文数: 0 引用数: 0 h-index: 0机构: Univ Mississippi, Med Ctr, Dept Med, Jackson, MS USA Harvard Med Sch, Massachusetts Eye & Ear Infirmly, Dept Ophthalmol, Boston, MA USAHoadley, Suzanne论文数: 0 引用数: 0 h-index: 0机构: Univ Mississippi, Med Ctr, Dept Ophthalmol, Jackson, MS 39216 USA Harvard Med Sch, Massachusetts Eye & Ear Infirmly, Dept Ophthalmol, Boston, MA USAConsugar, Mark论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Massachusetts Eye & Ear Infirmly, Dept Ophthalmol, Boston, MA USA Harvard Med Sch, Massachusetts Eye & Ear Infirmly, Dept Ophthalmol, Boston, MA USARestrepo, Carlos论文数: 0 引用数: 0 h-index: 0机构: CES Univ, Sch Med, Basic Sci Grp, Medellin, Colombia Harvard Med Sch, Massachusetts Eye & Ear Infirmly, Dept Ophthalmol, Boston, MA USAShah, Vinay A.论文数: 0 引用数: 0 h-index: 0机构: Univ Oklahoma, Dean McGee Eye Inst, Dept Ophthalmol, Norman, OK 73019 USA Harvard Med Sch, Massachusetts Eye & Ear Infirmly, Dept Ophthalmol, Boston, MA USAArboleda-Velasquez, Joseph F.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Massachusetts Eye & Ear, Schepens Eye Res Inst, Dept Ophthalmol, Boston, MA USA Harvard Med Sch, Massachusetts Eye & Ear Infirmly, Dept Ophthalmol, Boston, MA USASobrin, Lucia论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Massachusetts Eye & Ear Infirmly, Dept Ophthalmol, Boston, MA USA Harvard Med Sch, Massachusetts Eye & Ear Infirmly, Dept Ophthalmol, Boston, MA USAGai, Xiaowu论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Los Angeles, Ctr Personalized Med, Los Angeles, CA USA Harvard Med Sch, Massachusetts Eye & Ear Infirmly, Dept Ophthalmol, Boston, MA USAKim, Leo A.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Massachusetts Eye & Ear Infirmly, Dept Ophthalmol, Boston, MA USA Harvard Med Sch, Massachusetts Eye & Ear Infirmly, Dept Ophthalmol, Boston, MA USA
- [27] The relative expression of mutated XPB genes results in xeroderma pigmentosum/Cockayne's syndrome or trichothiodystrophy cellular phenotypesHUMAN MOLECULAR GENETICS, 1999, 8 (06) : 1125 - 1133Riou, L论文数: 0 引用数: 0 h-index: 0机构: CNRS, Genet Mol Lab, F-94801 Villejuif, FranceZeng, L论文数: 0 引用数: 0 h-index: 0机构: CNRS, Genet Mol Lab, F-94801 Villejuif, FranceChevallier-Lagente, O论文数: 0 引用数: 0 h-index: 0机构: CNRS, Genet Mol Lab, F-94801 Villejuif, FranceStary, A论文数: 0 引用数: 0 h-index: 0机构: CNRS, Genet Mol Lab, F-94801 Villejuif, FranceNikaido, O论文数: 0 引用数: 0 h-index: 0机构: CNRS, Genet Mol Lab, F-94801 Villejuif, FranceTaïeb, A论文数: 0 引用数: 0 h-index: 0机构: CNRS, Genet Mol Lab, F-94801 Villejuif, FranceWeeda, G论文数: 0 引用数: 0 h-index: 0机构: CNRS, Genet Mol Lab, F-94801 Villejuif, FranceMezzina, M论文数: 0 引用数: 0 h-index: 0机构: CNRS, Genet Mol Lab, F-94801 Villejuif, FranceSarasin, A论文数: 0 引用数: 0 h-index: 0机构: CNRS, Genet Mol Lab, F-94801 Villejuif, France
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- [30] MUTATIONS IN THE XERODERMA-PIGMENTOSUM GROUP-D DNA REPAIR/TRANSCRIPTION GENE IN PATIENTS WITH TRICHOTHIODYSTROPHYNATURE GENETICS, 1994, 7 (02) : 189 - 194BROUGHTON, BC论文数: 0 引用数: 0 h-index: 0机构: UNIV SUSSEX, MRC, CELL MUTAT UNIT, BRIGHTON BN1 9RR, ENGLANDSTEINGRIMSDOTTIR, H论文数: 0 引用数: 0 h-index: 0机构: UNIV SUSSEX, MRC, CELL MUTAT UNIT, BRIGHTON BN1 9RR, ENGLANDWEBER, CA论文数: 0 引用数: 0 h-index: 0机构: UNIV SUSSEX, MRC, CELL MUTAT UNIT, BRIGHTON BN1 9RR, ENGLANDLEHMANN, AR论文数: 0 引用数: 0 h-index: 0机构: UNIV SUSSEX, MRC, CELL MUTAT UNIT, BRIGHTON BN1 9RR, ENGLAND