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- [21] Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing[J]. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2021, 147 (02) : 734 - 737Fusaro, Mathieu论文数: 0 引用数: 0 h-index: 0机构: Univ Paris, Paris, France Necker Hosp Sick Children, AP HP, Study Ctr Primary Immunodeficienicias, Paris, France Univ Paris, Paris, FranceRosain, Jeremie论文数: 0 引用数: 0 h-index: 0机构: Univ Paris, Paris, France Necker Hosp Sick Children, AP HP, Study Ctr Primary Immunodeficienicias, Paris, France INSERM UMR 1163, Lab Human Genet Infect Dis, Necker Branch, Paris, France Univ Paris, Paris, FranceGrandin, Virginie论文数: 0 引用数: 0 h-index: 0机构: Necker Hosp Sick Children, AP HP, Study Ctr Primary Immunodeficienicias, Paris, France Univ Paris, Paris, FranceLambert, Nathalie论文数: 0 引用数: 0 h-index: 0机构: Necker Hosp Sick Children, AP HP, Study Ctr Primary Immunodeficienicias, Paris, France Univ Paris, Paris, FranceHanein, Sylvain论文数: 0 引用数: 0 h-index: 0机构: INSERM, UMR 1163, Paris, France INSERM UMR 1163, Lab Lymphocyte Activat & Susceptibil EBV infect, Paris, France Univ Paris, Paris, FranceFourrage, Cecile论文数: 0 引用数: 0 h-index: 0机构: Bioinformat Core Facil, Paris, France INSERM, UMR 1163, Paris, France INSERM UMR 1163, Lab Lymphocyte Activat & Susceptibil EBV infect, Paris, France INSERM UMR 1163, Lab Human Lymphohematopoiesis, Paris, France INSERM UMR 1163, Lab Normal & Pathol Homeostasis Immune Syst, Paris, France Univ Paris, CNRS, Unite Mixte Serv 3633, INSERM, Paris, France Children Hosp, Pediat Oncol Immunol Hematol Unit, Toulouse, France Univ Paris, Paris, FranceRenaud, Nicholas论文数: 0 引用数: 0 h-index: 0机构: INSERM, UMR 1163, Paris, France INSERM UMR 1163, Lab Lymphocyte Activat & Susceptibil EBV infect, Paris, France Univ Paris, Paris, FranceGil, Marine论文数: 0 引用数: 0 h-index: 0机构: INSERM UMR 1163, Lab Lymphocyte Activat & Susceptibil EBV infect, Paris, France Univ Paris, Paris, FranceChevalier, Samuel论文数: 0 引用数: 0 h-index: 0机构: Necker Hosp Sick Children, AP HP, Study Ctr Primary Immunodeficienicias, Paris, France Univ Paris, Paris, FranceAbou Chahla, Wadih论文数: 0 引用数: 0 h-index: 0机构: Jeanne Flandre Hosp, Dept Pediat Hematol, Lille, France Univ Paris, Paris, FranceBader-Meunier, Brigitte论文数: 0 引用数: 0 h-index: 0机构: Necker Hosp Sick Children, AP HP, Pediat Immunohematol & Rheumatol Unit, Paris, France Univ Paris, Paris, FranceBarlogis, Vincent论文数: 0 引用数: 0 h-index: 0机构: La Timone Hosp, Dept Pediat Hematol, Marseille, France Univ Paris, Paris, FranceBlanche, Stephane论文数: 0 引用数: 0 h-index: 0机构: Necker Hosp Sick Children, AP HP, Pediat Immunohematol & Rheumatol Unit, Paris, France Univ Paris, Paris, FranceBoutboul, David论文数: 0 引用数: 0 h-index: 0机构: Univ Paris, Paris, FranceCastelle, Martin论文数: 0 引用数: 0 h-index: 0机构: Necker Hosp Sick Children, AP HP, Pediat Immunohematol & Rheumatol Unit, Paris, France Univ Paris, Paris, FranceComont, Thibault论文数: 0 引用数: 0 h-index: 0机构: Inst Univ Canc Oncopole, Dept Internal Med, Toulouse, France Univ Paris, Paris, FranceDiana, Jean-Sebastien论文数: 0 引用数: 0 h-index: 0机构: Necker Hosp Sick Children, AP HP, Pediat Immunohematol & Rheumatol Unit, Paris, France INSERM UMR 1163, Lab Genome Dynam Immune Syst, Paris, France Univ Paris, Paris, FranceFieschi, Claire论文数: 0 引用数: 0 h-index: 0机构: Univ Paris, Paris, FranceGalicier, Lionel论文数: 0 引用数: 0 h-index: 0机构: Univ Paris, Paris, FranceHermine, Olivier论文数: 0 引用数: 0 h-index: 0机构: Univ Paris, Paris, France Necker Hosp Sick Children, AP HP, Dept Adult Hematol, Paris, France Necker Hosp Sick Children, AP HP, French Natl Reference Ctr Primary Immune Deficien, Ctr Reference Deficits Immunitaires Hereditaires, Paris, France Univ Paris, Paris, FranceLefevre-Utile, Alain论文数: 0 引用数: 0 h-index: 0机构: Necker Hosp Sick Children, AP HP, Pediat Immunohematol & Rheumatol Unit, Paris, France Jean Verdier Hosp, AP HP, Dept Gen Pediat, Bondy, France Univ Paris, Paris, FranceMalphettes, Marion论文数: 0 引用数: 0 h-index: 0机构: St Louis Hosp, AP HP, Dept Clin Immunol, Paris, France Univ Paris, Paris, FranceMerlin, Etienne论文数: 0 引用数: 0 h-index: 0机构: Estaing Hosp, Dept Pediat, Clermont Ferrand, France Univ Paris, Paris, FranceOksenhendler, Eric论文数: 0 引用数: 0 h-index: 0机构: St Louis Hosp, AP HP, Dept Clin Immunol, Paris, France Paris Diderot Univ, Paris, France Univ Paris, Paris, FrancePasquet, Marlene论文数: 0 引用数: 0 h-index: 0机构: Univ Paris, Paris, FranceSuarez, Felipe论文数: 0 引用数: 0 h-index: 0机构: Necker Hosp Sick Children, AP HP, French Natl Reference Ctr Primary Immune Deficien, Ctr Reference Deficits Immunitaires Hereditaires, Paris, France Univ Paris, Paris, FranceAndre, Isabelle论文数: 0 引用数: 0 h-index: 0机构: INSERM, UMR 1163, Paris, France Univ Paris, Paris, FranceBeziat, Vivien论文数: 0 引用数: 0 h-index: 0机构: INSERM UMR 1163, Lab Human Genet Infect Dis, Necker Branch, Paris, France Univ Paris, Paris, Francede Saint Basile, Genevieve论文数: 0 引用数: 0 h-index: 0机构: Univ Paris, Paris, France Necker Hosp Sick Children, AP HP, Study Ctr Primary Immunodeficienicias, Paris, France INSERM UMR 1163, Lab Normal & Pathol Homeostasis Immune Syst, Paris, France Univ Paris, Paris, FranceDe Villartay, Jean-Pierre论文数: 0 引用数: 0 h-index: 0机构: INSERM UMR 1163, Lab Genome Dynam Immune Syst, Paris, France Univ Paris, Paris, FranceKracker, Sven论文数: 0 引用数: 0 h-index: 0机构: Univ Paris, Paris, FranceLagresle-Peyrou, Chantal论文数: 0 引用数: 0 h-index: 0机构: Univ Paris, Paris, FranceLatour, Sylvain论文数: 0 引用数: 0 h-index: 0机构: Univ Paris, Paris, FranceRieux-Laucat, Frederic论文数: 0 引用数: 0 h-index: 0机构: INSERM UMR 1163, Lab Immunogenet Pediat Autoimmune Dis, Paris, France Univ Paris, Paris, FranceMahlaoui, Nizar论文数: 0 引用数: 0 h-index: 0机构: Necker Hosp Sick Children, AP HP, French Natl Reference Ctr Primary Immune Deficien, Ctr Reference Deficits Immunitaires Hereditaires, Paris, France Univ Paris, Paris, FranceBole, Christine论文数: 0 引用数: 0 h-index: 0机构: Univ Paris, Paris, FranceNitschke, Patrick论文数: 0 引用数: 0 h-index: 0机构: Bioinformat Core Facil, Paris, France INSERM, UMR 1163, Paris, France Univ Paris, Paris, FranceHulier-Ammar, Elisabeth论文数: 0 引用数: 0 h-index: 0机构: Univ Paris, Paris, FranceFischer, Alain论文数: 0 引用数: 0 h-index: 0机构: Coll France, Paris, France Univ Paris, Paris, FranceMoshous, Despina论文数: 0 引用数: 0 h-index: 0机构: Univ Paris, Paris, France Univ Paris, Paris, FranceNeven, Benedicte论文数: 0 引用数: 0 h-index: 0机构: Univ Paris, Paris, France INSERM UMR 1163, Lab Immunogenet Pediat Autoimmune Dis, Paris, France Univ Paris, Paris, FranceAlcais, Alexandre论文数: 0 引用数: 0 h-index: 0机构: INSERM UMR 1163, Lab Human Genet Infect Dis, Necker Branch, Paris, France Univ Paris, Paris, FranceVogt, Guillaume论文数: 0 引用数: 0 h-index: 0机构: Univ Paris, Neglected Human Genet Lab, INSERM, Paris, France Inst Sapiens, Paris, France Le Commissariat Energie Atom & Energies Alternat, Neglected Human Genet Lab, Ctr Natl Rech Genom Humaine, Evry, France Univ Paris, Paris, FranceBustamante, Jacinta论文数: 0 引用数: 0 h-index: 0机构: Univ Paris, Paris, France Necker Hosp Sick Children, AP HP, Study Ctr Primary Immunodeficienicias, Paris, France Univ Paris, Paris, FrancePicard, Capucine论文数: 0 引用数: 0 h-index: 0机构: Univ Paris, Paris, France Necker Hosp Sick Children, AP HP, Study Ctr Primary Immunodeficienicias, Paris, France Necker Hosp Sick Children, AP HP, Pediat Immunohematol & Rheumatol Unit, Paris, France Necker Hosp Sick Children, AP HP, French Natl Reference Ctr Primary Immune Deficien, Ctr Reference Deficits Immunitaires Hereditaires, Paris, France Univ Paris, Paris, France
- [22] Genetic Characterization of Hereditary Cancer Syndromes Based on Targeted Next-Generation Sequencing[J]. MOLECULAR SYNDROMOLOGY, 2022, 13 (02) : 123 - 131Ercoskun, Pelin论文数: 0 引用数: 0 h-index: 0机构: Ataturk Univ, Fac Med, Dept Med Genet, Erzurum, Turkey Ataturk Univ, Fac Med, Dept Med Genet, Erzurum, TurkeyKahraman, Cigdem Yuce论文数: 0 引用数: 0 h-index: 0机构: Ataturk Univ, Fac Med, Dept Med Genet, Erzurum, Turkey Ataturk Univ, Fac Med, Dept Med Genet, Erzurum, TurkeyOzkan, Guller论文数: 0 引用数: 0 h-index: 0机构: Ataturk Univ, Fac Med, Dept Med Genet, Erzurum, Turkey Ataturk Univ, Fac Med, Dept Med Genet, Erzurum, TurkeyTatar, Abdulgani论文数: 0 引用数: 0 h-index: 0机构: Ataturk Univ, Fac Med, Dept Med Genet, Erzurum, Turkey Ataturk Univ, Fac Med, Dept Med Genet, Erzurum, Turkey
- [23] Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders[J]. ORPHANET JOURNAL OF RARE DISEASES, 2022, 17 (01)Alvarez-Mora, Maria Isabel论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, IDIBAPS Inst Invest Biomed August Pi Sunyer, Biochem & Mol Genet Dept, Barcelona, Spain CIBER Rare Dis CIBERER, Barcelona, Spain Hosp Clin Barcelona, IDIBAPS Inst Invest Biomed August Pi Sunyer, Biochem & Mol Genet Dept, Barcelona, SpainSanchez, Aurora论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, IDIBAPS Inst Invest Biomed August Pi Sunyer, Biochem & Mol Genet Dept, Barcelona, Spain CIBER Rare Dis CIBERER, Barcelona, Spain Hosp Clin Barcelona, IDIBAPS Inst Invest Biomed August Pi Sunyer, Biochem & Mol Genet Dept, Barcelona, SpainRodriguez-Revenga, Laia论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, IDIBAPS Inst Invest Biomed August Pi Sunyer, Biochem & Mol Genet Dept, Barcelona, Spain CIBER Rare Dis CIBERER, Barcelona, Spain Hosp Clin Barcelona, IDIBAPS Inst Invest Biomed August Pi Sunyer, Biochem & Mol Genet Dept, Barcelona, SpainCorominas, Jordi论文数: 0 引用数: 0 h-index: 0机构: Radboud UMC, Dept Human Genet, Nijmegen, Netherlands Hosp Clin Barcelona, IDIBAPS Inst Invest Biomed August Pi Sunyer, Biochem & Mol Genet Dept, Barcelona, SpainRabionet, Raquel论文数: 0 引用数: 0 h-index: 0机构: Univ Barcelona, Dept Genet Microbiol & Stat, Fac Biol, Barcelona, Spain Hosp Clin Barcelona, IDIBAPS Inst Invest Biomed August Pi Sunyer, Biochem & Mol Genet Dept, Barcelona, SpainPuig, Susana论文数: 0 引用数: 0 h-index: 0机构: CIBER Rare Dis CIBERER, Barcelona, Spain Hosp Clin Barcelona, Dept Dermatol, Barcelona, Spain IDIBAPS, Melanoma Unit, Barcelona, Spain Hosp Clin Barcelona, IDIBAPS Inst Invest Biomed August Pi Sunyer, Biochem & Mol Genet Dept, Barcelona, SpainMadrigal, Irene论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, IDIBAPS Inst Invest Biomed August Pi Sunyer, Biochem & Mol Genet Dept, Barcelona, Spain CIBER Rare Dis CIBERER, Barcelona, Spain Hosp Clin Barcelona, IDIBAPS Inst Invest Biomed August Pi Sunyer, Biochem & Mol Genet Dept, Barcelona, Spain
- [24] Next-generation sequencing allows a diagnostic yield of 24% in monogenic epilepsies[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 331 - 332Nava, C.论文数: 0 引用数: 0 h-index: 0机构: UPMC Univ Paris 06, Sorbonne Univ, UMR S 1127, ICM, Paris, France Hop La Pitie Salpetriere, AP HP, Dept Genet, Paris, France UPMC Univ Paris 06, Sorbonne Univ, UMR S 1127, ICM, Paris, FranceLabalme, A.论文数: 0 引用数: 0 h-index: 0机构: GHE, HCL, Serv Genet, Lyon, France UPMC Univ Paris 06, Sorbonne Univ, UMR S 1127, ICM, Paris, FranceMignot, C.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, AP HP, Dept Genet, Paris, France Hop La Pitie Salpetriere, AP HP, Ctr Reference Deficiences Intellectuelles Causes, Paris, France UPMC Univ Paris 06, Sorbonne Univ, UMR S 1127, ICM, Paris, FranceChatron, N.论文数: 0 引用数: 0 h-index: 0机构: GHE, HCL, Serv Genet, Lyon, France UPMC Univ Paris 06, Sorbonne Univ, UMR S 1127, ICM, Paris, FranceBoermans, L. Van de Velde论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, AP HP, Dept Genet, Paris, France UPMC Univ Paris 06, Sorbonne Univ, UMR S 1127, ICM, Paris, Francedes Portes, V.论文数: 0 引用数: 0 h-index: 0机构: GHE, Serv Neuropediat, HCL, Lyon, France UPMC Univ Paris 06, Sorbonne Univ, UMR S 1127, ICM, Paris, FranceBogoin, J.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, AP HP, Dept Genet, Paris, France UPMC Univ Paris 06, Sorbonne Univ, UMR S 1127, ICM, Paris, FranceVille, D.论文数: 0 引用数: 0 h-index: 0机构: GHE, Serv Neuropediat, HCL, Lyon, France UPMC Univ Paris 06, Sorbonne Univ, UMR S 1127, ICM, Paris, FranceDe Bellescize, J.论文数: 0 引用数: 0 h-index: 0机构: GHE, Epilepsie Sommeil & Explorat Fonct Neuropediat, HCL, Lyon, France UPMC Univ Paris 06, Sorbonne Univ, UMR S 1127, ICM, Paris, FranceNougues, M.论文数: 0 引用数: 0 h-index: 0机构: Hop Armand Trousseau, Serv Neuropediat, Paris, France UPMC Univ Paris 06, Sorbonne Univ, UMR S 1127, ICM, Paris, FranceDoummar, D.论文数: 0 引用数: 0 h-index: 0机构: Hop Armand Trousseau, Serv Neuropediat, Paris, France UPMC Univ Paris 06, Sorbonne Univ, UMR S 1127, ICM, Paris, FranceAfenjar, A.论文数: 0 引用数: 0 h-index: 0机构: Hop Armand Trousseau, Serv Genet, Paris, France UPMC Univ Paris 06, Sorbonne Univ, UMR S 1127, ICM, Paris, FrancePoulat, A.论文数: 0 引用数: 0 h-index: 0机构: GHE, Serv Neuropediat, HCL, Lyon, France UPMC Univ Paris 06, Sorbonne Univ, UMR S 1127, ICM, Paris, FranceFreihuber, C.论文数: 0 引用数: 0 h-index: 0机构: Hop Armand Trousseau, Serv Neuropediat, Paris, France UPMC Univ Paris 06, Sorbonne Univ, UMR S 1127, ICM, Paris, FrancePanagiotakaki, E.论文数: 0 引用数: 0 h-index: 0机构: GHE, Epilepsie Sommeil & Explorat Fonct Neuropediat, HCL, Lyon, France UPMC Univ Paris 06, Sorbonne Univ, UMR S 1127, ICM, Paris, FranceValence, S.论文数: 0 引用数: 0 h-index: 0机构: Hop Armand Trousseau, Serv Neuropediat, Paris, France UPMC Univ Paris 06, Sorbonne Univ, UMR S 1127, ICM, Paris, FranceArzimanoglou, A.论文数: 0 引用数: 0 h-index: 0机构: GHE, Epilepsie Sommeil & Explorat Fonct Neuropediat, HCL, Lyon, France UPMC Univ Paris 06, Sorbonne Univ, UMR S 1127, ICM, Paris, FranceNaudion, S.论文数: 0 引用数: 0 h-index: 0机构: CHU Bordeaux, Serv Genet Med, GH Pellegrin, Bordeaux, France UPMC Univ Paris 06, Sorbonne Univ, UMR S 1127, ICM, Paris, FranceHeron, D.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, AP HP, Ctr Reference Deficiences Intellectuelles Causes, Paris, France UPMC Univ Paris 06, Sorbonne Univ, UMR S 1127, ICM, Paris, FranceSanlaville, D.论文数: 0 引用数: 0 h-index: 0机构: CNRL, INSERM, U1028, CNRS,UMR 5292, Lyon, France Univ Claude Bernard Lyon 1, GHE, Lyon, France UPMC Univ Paris 06, Sorbonne Univ, UMR S 1127, ICM, Paris, FranceLeguern, E.论文数: 0 引用数: 0 h-index: 0机构: UPMC Univ Paris 06, Sorbonne Univ, UMR S 1127, ICM, Paris, France Hop La Pitie Salpetriere, AP HP, Dept Genet, Paris, France UPMC Univ Paris 06, Sorbonne Univ, UMR S 1127, ICM, Paris, FranceLesca, G.论文数: 0 引用数: 0 h-index: 0机构: GHE, HCL, Serv Genet, Lyon, France CNRL, INSERM, U1028, CNRS,UMR 5292, Lyon, France Univ Claude Bernard Lyon 1, GHE, Lyon, France UPMC Univ Paris 06, Sorbonne Univ, UMR S 1127, ICM, Paris, France
- [25] DEVELOPMENT OF A COMPREHENSIVE RAPID NEXT-GENERATION SEQUENCING ASSAY FOR THE DIAGNOSIS OF INHERITED HEMOLYTIC ANEMIA[J]. PEDIATRIC BLOOD & CANCER, 2014, 61 : S59 - S60Begtrup, Amber Hogart论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USADagaonkar, Neha论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USAChonat, Satheesh论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USAGiger, Katie论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USAHusami, Ammar论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USAKissell, Diane论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USARisinger, Mary论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USAJoiner, Clinton论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USAKeddache, Mehdi论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USAZhang, Kejian论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USAKalfa, Theodosia论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USA
- [26] Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders[J]. Orphanet Journal of Rare Diseases, 17María Isabel Álvarez-Mora论文数: 0 引用数: 0 h-index: 0机构: IDIBAPS (Institut de Investigacions Biomèdiques August Pi I Sunyer),Biochemistry and Molecular Genetics Department, Hospital Clinic of BarcelonaAurora Sánchez论文数: 0 引用数: 0 h-index: 0机构: IDIBAPS (Institut de Investigacions Biomèdiques August Pi I Sunyer),Biochemistry and Molecular Genetics Department, Hospital Clinic of BarcelonaLaia Rodríguez-Revenga论文数: 0 引用数: 0 h-index: 0机构: IDIBAPS (Institut de Investigacions Biomèdiques August Pi I Sunyer),Biochemistry and Molecular Genetics Department, Hospital Clinic of BarcelonaJordi Corominas论文数: 0 引用数: 0 h-index: 0机构: IDIBAPS (Institut de Investigacions Biomèdiques August Pi I Sunyer),Biochemistry and Molecular Genetics Department, Hospital Clinic of BarcelonaRaquel Rabionet论文数: 0 引用数: 0 h-index: 0机构: IDIBAPS (Institut de Investigacions Biomèdiques August Pi I Sunyer),Biochemistry and Molecular Genetics Department, Hospital Clinic of BarcelonaSusana Puig论文数: 0 引用数: 0 h-index: 0机构: IDIBAPS (Institut de Investigacions Biomèdiques August Pi I Sunyer),Biochemistry and Molecular Genetics Department, Hospital Clinic of BarcelonaIrene Madrigal论文数: 0 引用数: 0 h-index: 0机构: IDIBAPS (Institut de Investigacions Biomèdiques August Pi I Sunyer),Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona
- [27] Development Of a Comprehensive Rapid Next-Generation Sequencing Assay For The Diagnosis Of Inherited Hemolytic Anemia[J]. BLOOD, 2013, 122 (21)Begtrup, Amber Hogart论文数: 0 引用数: 0 h-index: 0Dagaonkar, Neha论文数: 0 引用数: 0 h-index: 0Pushkaran, Suvarnamala论文数: 0 引用数: 0 h-index: 0Giger, Katie M.论文数: 0 引用数: 0 h-index: 0Husami, Ammar论文数: 0 引用数: 0 h-index: 0Kissell, Diane论文数: 0 引用数: 0 h-index: 0Joiner, Clinton H.论文数: 0 引用数: 0 h-index: 0Keddache, Mehdi论文数: 0 引用数: 0 h-index: 0Zhang, Kejian论文数: 0 引用数: 0 h-index: 0Kalfa, Theodosia A.论文数: 0 引用数: 0 h-index: 0
- [28] Diagnostic Yield of a Next-Generation Sequencing Panel for Primary Immunodeficiencies in a Cohort of Pediatric Patients with Immunohematologic Disorders[J]. JOURNAL OF CLINICAL IMMUNOLOGY, 2019, 39 : S88 - S89Varga, Elizabeth A.论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Personalized Med, Div Hematol Oncol BMT, Columbus, OH USA Nationwide Childrens Hosp, Inst Genom Med, Columbus, OH USA Nationwide Childrens Hosp, Personalized Med, Div Hematol Oncol BMT, Columbus, OH USAZajo, Kristin论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Div Hematol Oncol BMT, Columbus, OH USA Nationwide Childrens Hosp, Personalized Med, Div Hematol Oncol BMT, Columbus, OH USARose, Melissa论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Cytopenia & Bone Marrow Failure Program, Div Hematol Oncol BMT, Columbus, OH USA Nationwide Childrens Hosp, Personalized Med, Div Hematol Oncol BMT, Columbus, OH USAPrince, Benjamin论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Pediat, Div Allergy Immunol, Columbus, OH USA Nationwide Childrens Hosp, Personalized Med, Div Hematol Oncol BMT, Columbus, OH USA
- [29] Guidelines for diagnostic next-generation sequencing[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2016, 24 (01) : 2 - 5Matthijs, Gert论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Ctr Human Genet, Lab Mol Diag, B-3000 Leuven, Belgium Katholieke Univ Leuven, Ctr Human Genet, Lab Mol Diag, B-3000 Leuven, BelgiumSouche, Erika论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Ctr Human Genet, Lab Mol Diag, B-3000 Leuven, Belgium Katholieke Univ Leuven, Ctr Human Genet, Lab Mol Diag, B-3000 Leuven, BelgiumAlders, Marielle论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, NL-1105 AZ Amsterdam, Netherlands Katholieke Univ Leuven, Ctr Human Genet, Lab Mol Diag, B-3000 Leuven, BelgiumCorveleyn, Anniek论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Ctr Human Genet, Lab Mol Diag, B-3000 Leuven, Belgium Katholieke Univ Leuven, Ctr Human Genet, Lab Mol Diag, B-3000 Leuven, BelgiumEck, Sebastian论文数: 0 引用数: 0 h-index: 0机构: Ctr Human Genet & Lab Med, Martinsried, Germany Katholieke Univ Leuven, Ctr Human Genet, Lab Mol Diag, B-3000 Leuven, BelgiumFeenstra, Ilse论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Katholieke Univ Leuven, Ctr Human Genet, Lab Mol Diag, B-3000 Leuven, BelgiumRace, Valerie论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Ctr Human Genet, Lab Mol Diag, B-3000 Leuven, Belgium Katholieke Univ Leuven, Ctr Human Genet, Lab Mol Diag, B-3000 Leuven, BelgiumSistermans, Erik论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet, Amsterdam, Netherlands Katholieke Univ Leuven, Ctr Human Genet, Lab Mol Diag, B-3000 Leuven, BelgiumSturm, Marc论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen Hosp, Inst Med Genet & Appl Genom, Tubingen, Germany Katholieke Univ Leuven, Ctr Human Genet, Lab Mol Diag, B-3000 Leuven, BelgiumWeiss, Marjan论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet, Amsterdam, Netherlands Katholieke Univ Leuven, Ctr Human Genet, Lab Mol Diag, B-3000 Leuven, BelgiumYntema, Helger论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Katholieke Univ Leuven, Ctr Human Genet, Lab Mol Diag, B-3000 Leuven, BelgiumBakker, Egbert论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands Katholieke Univ Leuven, Ctr Human Genet, Lab Mol Diag, B-3000 Leuven, BelgiumScheffer, Hans论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Katholieke Univ Leuven, Ctr Human Genet, Lab Mol Diag, B-3000 Leuven, BelgiumBauer, Peter论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen Hosp, Inst Med Genet & Appl Genom, Tubingen, Germany Katholieke Univ Leuven, Ctr Human Genet, Lab Mol Diag, B-3000 Leuven, Belgium
- [30] Next-Generation Sequencing in Diagnostic Pathology[J]. PATHOBIOLOGY, 2017, 84 (06) : 292 - 305Ilyas, Mohammad论文数: 0 引用数: 0 h-index: 0机构: Univ Nottingham, Sch Med, Queens Med Ctr,Div Canc Stem Cells, Acad Unit Pathol & Nottingham Mol Pathol Node, Nottingham NG7 2UH, England Univ Nottingham, Sch Med, Queens Med Ctr,Div Canc Stem Cells, Acad Unit Pathol & Nottingham Mol Pathol Node, Nottingham NG7 2UH, England