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- [21] Cost-Effectiveness of Whole-Genome vs Whole-Exome Sequencing Among Children With Suspected Genetic DisordersJAMA NETWORK OPEN, 2024, 7 (01) : E2353514Nurchis, Mario Cesare论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Largo Francesco Vito 1, I-00168 Rome, Italy Univ Cattolica Sacro Cuore, Sch Econ, Rome, Italy Fdn Policlin Univ A Gemelli Ist Ricovero & Cura Ca, Dept Woman & Child Hlth & Publ Hlth, Rome, Italy Univ Cattolica Sacro Cuore, Largo Francesco Vito 1, I-00168 Rome, ItalyRadio, Francesca Clementina论文数: 0 引用数: 0 h-index: 0机构: Osped Pediat Bambino Gesu IRCCS, Mol Genet & Funct Genom, Rome, Italy Univ Cattolica Sacro Cuore, Largo Francesco Vito 1, I-00168 Rome, ItalySalmasi, Luca论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Dept Econ & Finance, Rome, Italy Univ Cattolica Sacro Cuore, Largo Francesco Vito 1, I-00168 Rome, ItalyAlizadeh, Aurora Heidar论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Dept Econ & Finance, Rome, Italy Univ Cattolica Sacro Cuore, Largo Francesco Vito 1, I-00168 Rome, ItalyRaspolini, Gian Marco论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Dept Hlth Sci & Publ Hlth, Sect Hyg, Rome, Italy Univ Cattolica Sacro Cuore, Largo Francesco Vito 1, I-00168 Rome, ItalyAltamura, Gerardo论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Dept Hlth Sci & Publ Hlth, Sect Hyg, Rome, Italy Univ Cattolica Sacro Cuore, Largo Francesco Vito 1, I-00168 Rome, ItalyTartaglia, Marco论文数: 0 引用数: 0 h-index: 0机构: Osped Pediat Bambino Gesu IRCCS, Mol Genet & Funct Genom, Rome, Italy Univ Cattolica Sacro Cuore, Largo Francesco Vito 1, I-00168 Rome, ItalyDallapiccola, Bruno论文数: 0 引用数: 0 h-index: 0机构: Osped Pediat Bambino Gesu IRCCS, Mol Genet & Funct Genom, Rome, Italy Univ Cattolica Sacro Cuore, Largo Francesco Vito 1, I-00168 Rome, ItalyPizzo, Elena论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Appl Hlth Res, London, England Univ Cattolica Sacro Cuore, Largo Francesco Vito 1, I-00168 Rome, ItalyGianino, Maria Michela论文数: 0 引用数: 0 h-index: 0机构: Univ Torino, Dept Publ Hlth Sci & Paediat, Turin, Italy Univ Cattolica Sacro Cuore, Largo Francesco Vito 1, I-00168 Rome, ItalyDamiani, Gianfranco论文数: 0 引用数: 0 h-index: 0机构: Fdn Policlin Univ A Gemelli Ist Ricovero & Cura Ca, Dept Woman & Child Hlth & Publ Hlth, Rome, Italy Univ Cattolica Sacro Cuore, Dept Hlth Sci & Publ Hlth, Sect Hyg, Rome, Italy Univ Cattolica Sacro Cuore, Largo Francesco Vito 1, I-00168 Rome, Italy
- [22] Genetic Diagnosis in Movement Disorders. Use of Whole-Exome Sequencing in Clinical PracticeTREMOR AND OTHER HYPERKINETIC MOVEMENTS, 2022, 12Millar Vernetti, Patricio论文数: 0 引用数: 0 h-index: 0机构: Fleni, Neurol Dept, Movement Disorders Clin, Buenos Aires, DF, Argentina Fleni, Neurol Dept, Movement Disorders Clin, Buenos Aires, DF, ArgentinaRuiz Yanzi, Maria Agustina论文数: 0 引用数: 0 h-index: 0机构: Fleni, Neurol Dept, Buenos Aires, DF, Argentina Fleni, Neurol Dept, Movement Disorders Clin, Buenos Aires, DF, ArgentinaRossi, Malco论文数: 0 引用数: 0 h-index: 0机构: Fleni, Neurol Dept, Movement Disorders Clin, Buenos Aires, DF, Argentina Natl Council Sci & Tech Res CONICET, Buenos Aires, DF, Argentina Fleni, Neurol Dept, Movement Disorders Clin, Buenos Aires, DF, ArgentinaMerello, Marcelo论文数: 0 引用数: 0 h-index: 0机构: Fleni, Neurol Dept, Movement Disorders Clin, Buenos Aires, DF, Argentina Natl Council Sci & Tech Res CONICET, Buenos Aires, DF, Argentina Fleni, Neurol Dept, Movement Disorders Clin, Buenos Aires, DF, Argentina
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- [24] Whole-Exome Sequencing: Discovering Genetic Causes of Granulomatous MastitisINTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2025, 26 (01)Ozcinar, Beyza论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ, Istanbul Med Fac, Dept Gen Surg, TR-34093 Istanbul, Turkiye Istanbul Univ, Istanbul Med Fac, Dept Gen Surg, TR-34093 Istanbul, TurkiyeOcak, Zeynep论文数: 0 引用数: 0 h-index: 0机构: Istinye Univ, Med Fac, Dept Med Genet, TR-34396 Istanbul, Turkiye Istanbul Univ, Istanbul Med Fac, Dept Gen Surg, TR-34093 Istanbul, TurkiyeBillur, Deryanaz论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ, Aziz Sancar Inst Expt Med, Dept Mol Med, TR-34093 Istanbul, Turkiye Istanbul Univ, Inst Grad Studies Hlth Sci, Dept Mol Med, TR-34093 Istanbul, Turkiye Istanbul Univ, Istanbul Med Fac, Dept Gen Surg, TR-34093 Istanbul, TurkiyeErtugrul, Baris论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ, Aziz Sancar Inst Expt Med, Dept Mol Med, TR-34093 Istanbul, Turkiye Istanbul Univ, Istanbul Med Fac, Dept Gen Surg, TR-34093 Istanbul, TurkiyeTimirci-Kahraman, Ozlem论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ, Aziz Sancar Inst Expt Med, Dept Mol Med, TR-34093 Istanbul, Turkiye Istanbul Univ, Istanbul Med Fac, Dept Gen Surg, TR-34093 Istanbul, Turkiye
- [25] Reliability of Whole-Exome Sequencing for Assessing Intratumor Genetic HeterogeneityCELL REPORTS, 2018, 25 (06): : 1446 - 1457Shi, Weiwei论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, Dept Med, Yale Sch Med, New Haven, CT 06520 USA Yale Univ, Dept Med, Yale Sch Med, New Haven, CT 06520 USANg, Charlotte K. Y.论文数: 0 引用数: 0 h-index: 0机构: Mem Sloan Kettering Canc Ctr, Dept Pathol, 1275 York Ave, New York, NY 10021 USA Univ Hosp Basel, Inst Pathol, Basel, Switzerland Univ Basel, Dept Biomed, Basel, Switzerland Yale Univ, Dept Med, Yale Sch Med, New Haven, CT 06520 USALim, Raymond S.论文数: 0 引用数: 0 h-index: 0机构: Mem Sloan Kettering Canc Ctr, Dept Pathol, 1275 York Ave, New York, NY 10021 USA Yale Univ, Dept Med, Yale Sch Med, New Haven, CT 06520 USAJiang, Tingting论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, Dept Med, Yale Sch Med, New Haven, CT 06520 USA Yale Univ, Dept Med, Yale Sch Med, New Haven, CT 06520 USAKumar, Sushant论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, Mol Biophys & Biochem, New Haven, CT USA Yale Univ, Program Computat Biol & Bioinformat, New Haven, CT USA Yale Univ, Dept Med, Yale Sch Med, New Haven, CT 06520 USALi, Xiaotong论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, Dept Med, Yale Sch Med, New Haven, CT 06520 USA Yale Univ, Program Computat Biol & Bioinformat, New Haven, CT USA Yale Univ, Dept Med, Yale Sch Med, New Haven, CT 06520 USAWali, Vikram B.论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, Dept Med, Yale Sch Med, New Haven, CT 06520 USA Yale Univ, Dept Med, Yale Sch Med, New Haven, CT 06520 USAPiscuoglio, Salvatore论文数: 0 引用数: 0 h-index: 0机构: Mem Sloan Kettering Canc Ctr, Dept Pathol, 1275 York Ave, New York, NY 10021 USA Univ Hosp Basel, Inst Pathol, Basel, Switzerland Yale Univ, Dept Med, Yale Sch Med, New Haven, CT 06520 USAGerstein, Mark B.论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, Mol Biophys & Biochem, New Haven, CT USA Yale Univ, Program Computat Biol & Bioinformat, New Haven, CT USA Yale Univ, Comp Sci, New Haven, CT USA Yale Univ, Dept Med, Yale Sch Med, New Haven, CT 06520 USAChagpar, Anees B.论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, Yale Sch Med, Dept Surg, New Haven, CT USA Yale Canc Ctr, New Haven, CT 06510 USA Yale Univ, Dept Med, Yale Sch Med, New Haven, CT 06520 USAWeigelt, Britta论文数: 0 引用数: 0 h-index: 0机构: Mem Sloan Kettering Canc Ctr, Dept Pathol, 1275 York Ave, New York, NY 10021 USA Yale Univ, Dept Med, Yale Sch Med, New Haven, CT 06520 USAPusztai, Lajos论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, Dept Med, Yale Sch Med, New Haven, CT 06520 USA Yale Canc Ctr, New Haven, CT 06510 USA Yale Univ, Dept Med, Yale Sch Med, New Haven, CT 06520 USAReis-Filho, Jorge S.论文数: 0 引用数: 0 h-index: 0机构: Mem Sloan Kettering Canc Ctr, Dept Pathol, 1275 York Ave, New York, NY 10021 USA Mem Sloan Kettering Canc Ctr, Human Oncol & Pathogenesis Program, 1275 York Ave, New York, NY 10021 USA Yale Univ, Dept Med, Yale Sch Med, New Haven, CT 06520 USAHatzis, Christos论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, Dept Med, Yale Sch Med, New Haven, CT 06520 USA Yale Canc Ctr, New Haven, CT 06510 USA Yale Univ, Dept Med, Yale Sch Med, New Haven, CT 06520 USA
- [26] Two siblings with early repolarization syndrome: clinical and genetic characterization by whole-exome sequencingEUROPACE, 2021, 23 (05): : 775 - 780Steinfurt, Johannes论文数: 0 引用数: 0 h-index: 0机构: Univ Freiburg, Univ Heart Ctr Freiburg Bad Krozingen, Fac Med, Dept Cardiol & Angiol 1, Hugstetter Str 55, D-79106 Freiburg, Germany Univ Freiburg, Univ Heart Ctr Freiburg Bad Krozingen, Fac Med, Dept Cardiol & Angiol 1, Hugstetter Str 55, D-79106 Freiburg, GermanyBezzina, Connie R.论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Heart Ctr, Dept Clin & Expt Cardiol, Amsterdam UMC, Amsterdam, Netherlands Univ Freiburg, Univ Heart Ctr Freiburg Bad Krozingen, Fac Med, Dept Cardiol & Angiol 1, Hugstetter Str 55, D-79106 Freiburg, GermanyBiermann, Juergen论文数: 0 引用数: 0 h-index: 0机构: Univ Freiburg, Univ Heart Ctr Freiburg Bad Krozingen, Fac Med, Dept Cardiol & Angiol 1, Hugstetter Str 55, D-79106 Freiburg, Germany Univ Freiburg, Univ Heart Ctr Freiburg Bad Krozingen, Fac Med, Dept Cardiol & Angiol 1, Hugstetter Str 55, D-79106 Freiburg, GermanyStaudacher, Dawid论文数: 0 引用数: 0 h-index: 0机构: Univ Freiburg, Univ Heart Ctr Freiburg Bad Krozingen, Fac Med, Dept Cardiol & Angiol 1, Hugstetter Str 55, D-79106 Freiburg, Germany Univ Freiburg, Univ Heart Ctr Freiburg Bad Krozingen, Fac Med, Dept Cardiol & Angiol 1, Hugstetter Str 55, D-79106 Freiburg, GermanyMarschall, Christoph论文数: 0 引用数: 0 h-index: 0机构: Ctr Human Genet & Lab Diagnost, Martinsried, Germany Univ Freiburg, Univ Heart Ctr Freiburg Bad Krozingen, Fac Med, Dept Cardiol & Angiol 1, Hugstetter Str 55, D-79106 Freiburg, GermanyTrolese, Luca论文数: 0 引用数: 0 h-index: 0机构: Univ Freiburg, Univ Heart Ctr Freiburg Bad Krozingen, Fac Med, Dept Cardiol & Angiol 1, Hugstetter Str 55, D-79106 Freiburg, Germany Univ Freiburg, Univ Heart Ctr Freiburg Bad Krozingen, Fac Med, Dept Cardiol & Angiol 1, Hugstetter Str 55, D-79106 Freiburg, GermanyFaber, Thomas S.论文数: 0 引用数: 0 h-index: 0机构: Univ Freiburg, Univ Heart Ctr Freiburg Bad Krozingen, Fac Med, Dept Cardiol & Angiol 1, Hugstetter Str 55, D-79106 Freiburg, Germany Univ Freiburg, Univ Heart Ctr Freiburg Bad Krozingen, Fac Med, Dept Cardiol & Angiol 1, Hugstetter Str 55, D-79106 Freiburg, GermanyDuerschmied, Daniel论文数: 0 引用数: 0 h-index: 0机构: Univ Freiburg, Univ Heart Ctr Freiburg Bad Krozingen, Fac Med, Dept Cardiol & Angiol 1, Hugstetter Str 55, D-79106 Freiburg, Germany Univ Freiburg, Univ Heart Ctr Freiburg Bad Krozingen, Fac Med, Dept Cardiol & Angiol 1, Hugstetter Str 55, D-79106 Freiburg, GermanyZehender, Manfred论文数: 0 引用数: 0 h-index: 0机构: Univ Freiburg, Univ Heart Ctr Freiburg Bad Krozingen, Fac Med, Dept Cardiol & Angiol 1, Hugstetter Str 55, D-79106 Freiburg, Germany Univ Freiburg, Univ Heart Ctr Freiburg Bad Krozingen, Fac Med, Dept Cardiol & Angiol 1, Hugstetter Str 55, D-79106 Freiburg, GermanyBode, Christoph论文数: 0 引用数: 0 h-index: 0机构: Univ Freiburg, Univ Heart Ctr Freiburg Bad Krozingen, Fac Med, Dept Cardiol & Angiol 1, Hugstetter Str 55, D-79106 Freiburg, Germany Univ Freiburg, Univ Heart Ctr Freiburg Bad Krozingen, Fac Med, Dept Cardiol & Angiol 1, Hugstetter Str 55, D-79106 Freiburg, GermanyWilde, Arthur A. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Heart Ctr, Dept Clin & Expt Cardiol, Amsterdam UMC, Amsterdam, Netherlands Univ Freiburg, Univ Heart Ctr Freiburg Bad Krozingen, Fac Med, Dept Cardiol & Angiol 1, Hugstetter Str 55, D-79106 Freiburg, GermanyOdening, Katja E.论文数: 0 引用数: 0 h-index: 0机构: Univ Freiburg, Univ Heart Ctr Freiburg Bad Krozingen, Fac Med, Dept Cardiol & Angiol 1, Hugstetter Str 55, D-79106 Freiburg, Germany Univ Freiburg, Univ Heart Ctr Freiburg Bad Krozingen, Fac Med, Dept Cardiol & Angiol 1, Hugstetter Str 55, D-79106 Freiburg, GermanyLodder, Elisabeth M.论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Heart Ctr, Dept Clin & Expt Cardiol, Amsterdam UMC, Amsterdam, Netherlands Univ Freiburg, Univ Heart Ctr Freiburg Bad Krozingen, Fac Med, Dept Cardiol & Angiol 1, Hugstetter Str 55, D-79106 Freiburg, Germany
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- [30] 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