共 50 条
- [41] Whole-exome sequencing and homozygosity mapping identify variants in NCOR1 and MAP2K3 associated with non-syndromic congenital heart defectsEGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS, 2020, 21 (01)Gholipoorfeshkecheh, Rahim论文数: 0 引用数: 0 h-index: 0机构: Univ Mysore, Dept Studies Genet & Genom, Mysuru, India Univ Mysore, Dept Studies Genet & Genom, Mysuru, IndiaAgarwala, Swati论文数: 0 引用数: 0 h-index: 0机构: Univ Mysore, Dept Studies Genet & Genom, Mysuru, India Univ Mysore, Dept Studies Genet & Genom, Mysuru, IndiaKavya, G.论文数: 0 引用数: 0 h-index: 0机构: Univ Mysore, Dept Studies Genet & Genom, Mysuru, India Univ Mysore, Dept Studies Genet & Genom, Mysuru, IndiaKrishnappa, Santhosh论文数: 0 引用数: 0 h-index: 0机构: Sri Jayadeva Inst Cardiovasc Sci & Res, Mysuru, India Univ Mysore, Dept Studies Genet & Genom, Mysuru, IndiaSavitha, Mysore R.论文数: 0 引用数: 0 h-index: 0机构: Mysore Med Coll & Res Inst, Mysuru, India Univ Mysore, Dept Studies Genet & Genom, Mysuru, IndiaRamachandra, Nallur B.论文数: 0 引用数: 0 h-index: 0机构: Univ Mysore, Dept Studies Genet & Genom, Mysuru, India Univ Mysore, Dept Studies Genet & Genom, Mysuru, India
- [42] Whole-exome sequencing and homozygosity mapping identify variants in NCOR1 and MAP2K3 associated with non-syndromic congenital heart defectsEgyptian Journal of Medical Human Genetics, 21Rahim Gholipoorfeshkecheh论文数: 0 引用数: 0 h-index: 0机构: University of Mysore,Department of Studies in Genetics and GenomicsSwati Agarwala论文数: 0 引用数: 0 h-index: 0机构: University of Mysore,Department of Studies in Genetics and GenomicsKavya G论文数: 0 引用数: 0 h-index: 0机构: University of Mysore,Department of Studies in Genetics and GenomicsSanthosh Krishnappa论文数: 0 引用数: 0 h-index: 0机构: University of Mysore,Department of Studies in Genetics and GenomicsMysore R. Savitha论文数: 0 引用数: 0 h-index: 0机构: University of Mysore,Department of Studies in Genetics and GenomicsNallur B. Ramachandra论文数: 0 引用数: 0 h-index: 0机构: University of Mysore,Department of Studies in Genetics and Genomics
- [43] Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weaknessSKELETAL MUSCLE, 2018, 8Johnson, Katherine论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandBertoli, Marta论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Hosp NHS Fdn Trust, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandPhillips, Lauren论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandTopf, Ana论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandVan den Bergh, Peter论文数: 0 引用数: 0 h-index: 0机构: Univ Louvain, St Luc Univ Hosp, Neuromuscular Reference Ctr, Brussels, Belgium Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England论文数: 引用数: h-index:机构:Witting, Nanna论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Rigshosp, Copenhagen Neuromuscular Ctr, Copenhagen, Denmark Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandNafissi, Shahriar论文数: 0 引用数: 0 h-index: 0机构: Univ Tehran Med Sci, Shariati Hosp, Iranian Ctr Neurol Res, Tehran, Iran Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandJamal-Omidi, Shirin论文数: 0 引用数: 0 h-index: 0机构: Univ Tehran Med Sci, Shariati Hosp, Iranian Ctr Neurol Res, Tehran, Iran Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandLusakowska, Anna论文数: 0 引用数: 0 h-index: 0机构: Med Univ Warsaw, Dept Neurol, Warsaw, Poland Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandKostera-Pruszczyk, Anna论文数: 0 引用数: 0 h-index: 0机构: Med Univ Warsaw, Dept Neurol, Warsaw, Poland Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandPotulska-Chromik, Anna论文数: 0 引用数: 0 h-index: 0机构: Med Univ Warsaw, Dept Neurol, Warsaw, Poland Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandDeconinck, Nicolas论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, De Pintelaan 185, Ghent, Belgium ULB, Hop Univ Enfants Reine Fabiola, Paediat Neurol Dept, Brussels, Belgium Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandWallgren-Pettersson, Carina论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Folkhaelsan Inst Genet, Folkhaelsan Dept Med Genet, Topeliuksenkatu 20, Helsinki, Finland Univ Helsinki, Dept Med & Clin Genet, Topeliuksenkatu 20, Helsinki, Finland Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England论文数: 引用数: h-index:机构:Colomer, Jaume论文数: 0 引用数: 0 h-index: 0机构: Hosp St Joan de Deu, Serv Neurol, Unitat Patol Neuromuscular, Barcelona, Spain Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandClaeys, Kristl G.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Leuven, Dept Neurol, Leuven, Belgium Katholieke Univ Leuven, Univ Leuven, Dept Neurosci, Lab Muscle Dis & Neuropathies, Leuven, Belgium RWTH Aachen Univ Hosp, Dept Neurol, Aachen, Germany RWTH Aachen Univ Hosp, Inst Neuropathol, Aachen, Germany Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandDe Ridder, Willem论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Ctr Mol Neurol, VIB UA, Neurogenet Grp, Antwerp, Belgium Univ Antwerp, Inst Born Bunge, Lab Neuromuscular Pathol, Antwerp, Belgium Antwerp Univ Hosp, Dept Neurol, Neuromuscular Reference Ctr, Antwerp, Belgium Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandBaets, Jonathan论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Ctr Mol Neurol, VIB UA, Neurogenet Grp, Antwerp, Belgium Univ Antwerp, Inst Born Bunge, Lab Neuromuscular Pathol, Antwerp, Belgium Antwerp Univ Hosp, Dept Neurol, Neuromuscular Reference Ctr, Antwerp, Belgium Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, Englandvon der Hagen, Maja论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Dresden, Med Fak Carl Gustav Carus, Abt Neuropadiatrie, Dresden, Germany Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandFernandez-Torron, Roberto论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England Biodonostia Hlth Res Inst, Neurosci Area, San Sebastian, Spain Minist Econ & Competitiveness, Inst Carlos III, Ctr Biomed Res Neurodegenerat Dis CIBERNED Networ, Madrid, Spain Hosp Mendaro, Serv Neurol, Osakidetza, Mendaro, Spain Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandZulaica Ijurco, Miren论文数: 0 引用数: 0 h-index: 0机构: Biodonostia Hlth Res Inst, Neurosci Area, San Sebastian, Spain Minist Econ & Competitiveness, Inst Carlos III, Ctr Biomed Res Neurodegenerat Dis CIBERNED Networ, Madrid, Spain Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandEspinal Valencia, Juan Bautista论文数: 0 引用数: 0 h-index: 0机构: Biodonostia Hlth Res Inst, Neurosci Area, San Sebastian, Spain Minist Econ & Competitiveness, Inst Carlos III, Ctr Biomed Res Neurodegenerat Dis CIBERNED Networ, Madrid, Spain Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandHahn, Andreas论文数: 0 引用数: 0 h-index: 0机构: Justus Liebig Univ, Dept Child Neurol, Giessen, Germany Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandDurmus, Hacer论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ, Dept Neurol, Istanbul Fac Med, Istanbul, Turkey Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandWillis, Tracey论文数: 0 引用数: 0 h-index: 0机构: NHS Fdn Trust, Robert Jones & Agnes Hunt Orthopaed Hosp, Oswestry, Shrops, England Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandXu, Liwen论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA USA Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandValkanas, Elise论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA USA Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandMullen, Thomas E.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA USA Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandLek, Monkol论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA USA Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandMacArthur, Daniel G.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA USA Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandStraub, Volker论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Hosp NHS Fdn Trust, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England
- [44] Whole-Exome sequencing analysis identified TMSB10/TRABD2A locus to be associated with carfilzomib-related cardiotoxicity among patients with multiple myelomaFRONTIERS IN CARDIOVASCULAR MEDICINE, 2023, 10Tantawy, Marwa论文数: 0 引用数: 0 h-index: 0机构: Univ Florida, Coll Pharm, Dept Pharmacotherapy & Translat Res, Gainesville, FL 32611 USA Univ Florida, Coll Pharm, Ctr Pharmacogen & Precis Med, Gainesville, FL 32611 USA Univ Florida, Coll Pharm, Dept Pharmacotherapy & Translat Res, Gainesville, FL 32611 USAYang, Guang论文数: 0 引用数: 0 h-index: 0机构: Northwestern Univ, Feinberg Sch Med, Dept Pharmacol, Chicago, IL USA Univ Florida, Coll Pharm, Dept Pharmacotherapy & Translat Res, Gainesville, FL 32611 USAAlgubelli, Raghunandan Reddy论文数: 0 引用数: 0 h-index: 0机构: H Lee Moffitt Canc Ctr & Res Inst, Dept Malignant Hematol, Tampa, FL USA Univ Florida, Coll Pharm, Dept Pharmacotherapy & Translat Res, Gainesville, FL 32611 USADeAvila, Gabriel论文数: 0 引用数: 0 h-index: 0机构: H Lee Moffitt Canc Ctr & Res Inst, Dept Malignant Hematol, Tampa, FL USA Univ Florida, Coll Pharm, Dept Pharmacotherapy & Translat Res, Gainesville, FL 32611 USARubinstein, Samuel M. M.论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Dept Med, Div Hematol, Chapel Hill, NC USA Univ Florida, Coll Pharm, Dept Pharmacotherapy & Translat Res, Gainesville, FL 32611 USACornell, Robert F. F.论文数: 0 引用数: 0 h-index: 0机构: Vanderbilt Univ, Med Ctr, Dept Med, Div Hematol & Oncol, Nashville, TN USA Univ Florida, Coll Pharm, Dept Pharmacotherapy & Translat Res, Gainesville, FL 32611 USAFradley, Michael G. G.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Cardiooncol Ctr Excellence, Div Cardiol,Dept Med, Philadelphia, PA USA Univ Florida, Coll Pharm, Dept Pharmacotherapy & Translat Res, Gainesville, FL 32611 USASiegel, Erin M. M.论文数: 0 引用数: 0 h-index: 0机构: H Lee Moffitt Canc Ctr & Res Inst, Dept Canc Epidemiol, Tampa, FL USA Univ Florida, Coll Pharm, Dept Pharmacotherapy & Translat Res, Gainesville, FL 32611 USAHampton, Oliver A. A.论文数: 0 引用数: 0 h-index: 0机构: H Lee Moffitt Canc Ctr & Res Inst, Dept Biostat & Bioinformat, Tampa, FL USA Univ Florida, Coll Pharm, Dept Pharmacotherapy & Translat Res, Gainesville, FL 32611 USASilva, Ariosto S. S.论文数: 0 引用数: 0 h-index: 0机构: H Lee Moffitt Canc Ctr & Res Inst, Dept Canc Physiol, Tampa, FL USA Univ Florida, Coll Pharm, Dept Pharmacotherapy & Translat Res, Gainesville, FL 32611 USALenihan, Daniel论文数: 0 引用数: 0 h-index: 0机构: St Francis Med Ctr, Cape Cardiol Grp, Cape Girardeau, MO USA Univ Florida, Coll Pharm, Dept Pharmacotherapy & Translat Res, Gainesville, FL 32611 USAShain, Kenneth H. H.论文数: 0 引用数: 0 h-index: 0机构: H Lee Moffitt Canc Ctr & Res Inst, Dept Malignant Hematol, Tampa, FL USA Univ Florida, Coll Pharm, Dept Pharmacotherapy & Translat Res, Gainesville, FL 32611 USABaz, Rachid C. C.论文数: 0 引用数: 0 h-index: 0机构: H Lee Moffitt Canc Ctr & Res Inst, Dept Malignant Hematol, Tampa, FL USA Univ Florida, Coll Pharm, Dept Pharmacotherapy & Translat Res, Gainesville, FL 32611 USAGong, Yan论文数: 0 引用数: 0 h-index: 0机构: Univ Florida, Coll Pharm, Dept Pharmacotherapy & Translat Res, Gainesville, FL 32611 USA Univ Florida, Coll Pharm, Ctr Pharmacogen & Precis Med, Gainesville, FL 32611 USA Univ Florida, UF Hlth Canc Ctr, Canc Control & Populat Sci, Gainesville, FL 32611 USA Univ Florida, Coll Pharm, Dept Pharmacotherapy & Translat Res, Gainesville, FL 32611 USA
- [45] Whole-exome Sequencing Identifies SLC52A1 and ZNF106 Variants as Novel Genetic Risk Factors for (Early) Multiple-organ Failure in Acute PancreatitisANNALS OF SURGERY, 2022, 275 (06) : E781 - E788van den Berg, Fons F.论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Dept Surg, Amsterdam Gastroenterol Endocrinol Metab, Amsterdam UMC, Amsterdam, Netherlands Leiden Univ Med Ctr, Dept Clin Genet, Leiden, Netherlands Univ Amsterdam, Dept Surg, Amsterdam Gastroenterol Endocrinol Metab, Amsterdam UMC, Amsterdam, Netherlands论文数: 引用数: h-index:机构:Vreijling, Jeroen P.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Greifswald, Dept Med A, Greifswald, Germany Univ Amsterdam, Dept Surg, Amsterdam Gastroenterol Endocrinol Metab, Amsterdam UMC, Amsterdam, NetherlandsLerch, Markus M.论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Dept Clin Chem, Amsterdam Gastroenterol & Metab, Amsterdam UMC, Amsterdam, Netherlands Univ Amsterdam, Dept Genet, Amsterdam Gastroenterol & Metab, Amsterdam UMC, Amsterdam, Netherlands Univ Amsterdam, Dept Pediat, Amsterdam Gastroenterol & Metab, Amsterdam UMC, Amsterdam, Netherlands Univ Amsterdam, Dept Surg, Amsterdam Gastroenterol Endocrinol Metab, Amsterdam UMC, Amsterdam, NetherlandsWeiss, Frank Ulrich论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Dept Clin Chem, Amsterdam Gastroenterol & Metab, Amsterdam UMC, Amsterdam, Netherlands Univ Amsterdam, Dept Genet, Amsterdam Gastroenterol & Metab, Amsterdam UMC, Amsterdam, Netherlands Univ Amsterdam, Dept Pediat, Amsterdam Gastroenterol & Metab, Amsterdam UMC, Amsterdam, Netherlands Univ Amsterdam, Dept Surg, Amsterdam Gastroenterol Endocrinol Metab, Amsterdam UMC, Amsterdam, NetherlandsBesselink, Marc G.论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Dept Surg, Amsterdam Gastroenterol Endocrinol Metab, Amsterdam UMC, Amsterdam, Netherlands Leiden Univ Med Ctr, Dept Clin Genet, Leiden, Netherlands Univ Amsterdam, Dept Surg, Amsterdam Gastroenterol Endocrinol Metab, Amsterdam UMC, Amsterdam, NetherlandsBaas, Frank论文数: 0 引用数: 0 h-index: 0机构: Univ Med Greifswald, Dept Med A, Greifswald, Germany Univ Amsterdam, Dept Surg, Amsterdam Gastroenterol Endocrinol Metab, Amsterdam UMC, Amsterdam, NetherlandsBoermeester, Marja A.论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Dept Surg, Amsterdam Gastroenterol Endocrinol Metab, Amsterdam UMC, Amsterdam, Netherlands Leiden Univ Med Ctr, Dept Clin Genet, Leiden, Netherlands Univ Amsterdam, Dept Surg, Amsterdam Gastroenterol Endocrinol Metab, Amsterdam UMC, Amsterdam, Netherlandsvan Santvoort, Hjalmar C.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr, Dept Surg, Utrecht, Netherlands St Antonius Hosp, Dept Surg, Nieuwegein, Netherlands Univ Amsterdam, Dept Surg, Amsterdam Gastroenterol Endocrinol Metab, Amsterdam UMC, Amsterdam, Netherlands
- [46] The presence of red hair MC1R variants enhance melanoma sun-induced susceptibility in a CDKN2A skin-humanized mice model of cutaneous familiar melanomaJOURNAL OF INVESTIGATIVE DERMATOLOGY, 2012, 132 : S130 - S130Escamez, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Carlos III Madrid, Regenerat Med Unit, CIEMAT, Madrid, Spain Univ Carlos III Madrid, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Dept Bioengn, Madrid, Spain Univ Carlos III Madrid, Regenerat Med Unit, CIEMAT, Madrid, SpainPuig-Butille, J.论文数: 0 引用数: 0 h-index: 0机构: Ctr Invest Biomed Red Enfermedades Raras CIBERER, Barcelona, Spain Hosp Clin Barcelona, Melanoma Unit, Barcelona, Spain IDIBAPS Inst Invest Biomed Agusti Pi & Sunyer, Barcelona, Spain Univ Carlos III Madrid, Regenerat Med Unit, CIEMAT, Madrid, SpainBadenas, C.论文数: 0 引用数: 0 h-index: 0机构: Ctr Invest Biomed Red Enfermedades Raras CIBERER, Barcelona, Spain Hosp Clin Barcelona, Melanoma Unit, Barcelona, Spain IDIBAPS Inst Invest Biomed Agusti Pi & Sunyer, Barcelona, Spain Univ Carlos III Madrid, Regenerat Med Unit, CIEMAT, Madrid, SpainAguilera, P.论文数: 0 引用数: 0 h-index: 0机构: Ctr Invest Biomed Red Enfermedades Raras CIBERER, Barcelona, Spain Hosp Clin Barcelona, Melanoma Unit, Barcelona, Spain IDIBAPS Inst Invest Biomed Agusti Pi & Sunyer, Barcelona, Spain Univ Carlos III Madrid, Regenerat Med Unit, CIEMAT, Madrid, SpainCarrera, C.论文数: 0 引用数: 0 h-index: 0机构: Ctr Invest Biomed Red Enfermedades Raras CIBERER, Barcelona, Spain Hosp Clin Barcelona, Melanoma Unit, Barcelona, Spain IDIBAPS Inst Invest Biomed Agusti Pi & Sunyer, Barcelona, Spain Univ Carlos III Madrid, Regenerat Med Unit, CIEMAT, Madrid, SpainMartinez-Santamaria, L.论文数: 0 引用数: 0 h-index: 0机构: Univ Carlos III Madrid, Regenerat Med Unit, CIEMAT, Madrid, Spain Univ Carlos III Madrid, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Dept Bioengn, Madrid, Spain Univ Carlos III Madrid, Regenerat Med Unit, CIEMAT, Madrid, SpainRetamosa, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Carlos III Madrid, Regenerat Med Unit, CIEMAT, Madrid, Spain Univ Carlos III Madrid, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Dept Bioengn, Madrid, Spain Univ Carlos III Madrid, Regenerat Med Unit, CIEMAT, Madrid, SpainAlvaro, Meana论文数: 0 引用数: 0 h-index: 0机构: Ctr Invest Biomed Red Enfermedades Raras CIBERER, Oviedo, Spain Ctr Comunitario Sangre & Tejidos Asturias CCST, Tissue Engn Unit, Oviedo, Spain Univ Carlos III Madrid, Regenerat Med Unit, CIEMAT, Madrid, SpainDel Rio, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Carlos III Madrid, Regenerat Med Unit, CIEMAT, Madrid, Spain Univ Carlos III Madrid, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Dept Bioengn, Madrid, Spain Univ Carlos III Madrid, Regenerat Med Unit, CIEMAT, Madrid, SpainPuig, S.论文数: 0 引用数: 0 h-index: 0机构: Ctr Invest Biomed Red Enfermedades Raras CIBERER, Barcelona, Spain Hosp Clin Barcelona, Melanoma Unit, Barcelona, Spain IDIBAPS Inst Invest Biomed Agusti Pi & Sunyer, Barcelona, Spain Univ Carlos III Madrid, Regenerat Med Unit, CIEMAT, Madrid, Spain
- [47] A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi familyARCHIVES OF ORAL BIOLOGY, 2016, 67 : 28 - 33Jelani, Musharraf论文数: 0 引用数: 0 h-index: 0机构: King Abdulaziz Univ, Princess Al Jawhara Albrahim Ctr Excellence Res H, Jeddah 21589, Saudi Arabia Khyber Med Univ, Inst Basic Med Sci, Dept Biochem, Med Genet & Mol Biol Unit, Peshawar, Pakistan King Abdulaziz Univ, Princess Al Jawhara Albrahim Ctr Excellence Res H, Jeddah 21589, Saudi Arabia论文数: 引用数: h-index:机构:Mohamoud, Hussein Sheikh Ali论文数: 0 引用数: 0 h-index: 0机构: King Abdulaziz Univ, Princess Al Jawhara Albrahim Ctr Excellence Res H, Jeddah 21589, Saudi Arabia St Georges Univ London, Human Genet Res Ctr, Div Biomed Sci BMS, London SW17 0RE, England King Abdulaziz Univ, Princess Al Jawhara Albrahim Ctr Excellence Res H, Jeddah 21589, Saudi ArabiaAl-Rehaili, Rayan论文数: 0 引用数: 0 h-index: 0机构: King Abdulaziz Univ, Fac Dent, Oral & Maxillofacial Prosthodont Dept, Jeddah 21413, Saudi Arabia King Abdulaziz Univ, Princess Al Jawhara Albrahim Ctr Excellence Res H, Jeddah 21589, Saudi ArabiaAlmramhi, Mona Mohammad论文数: 0 引用数: 0 h-index: 0机构: King Abdulaziz Univ, Princess Al Jawhara Albrahim Ctr Excellence Res H, Jeddah 21589, Saudi Arabia King Abdulaziz Univ, Princess Al Jawhara Albrahim Ctr Excellence Res H, Jeddah 21589, Saudi ArabiaSerafi, Rehab论文数: 0 引用数: 0 h-index: 0机构: King Abdulaziz Univ Hosp, Dept Dermatol, Jeddah, Saudi Arabia King Abdulaziz Univ, Princess Al Jawhara Albrahim Ctr Excellence Res H, Jeddah 21589, Saudi ArabiaYang, Huanming论文数: 0 引用数: 0 h-index: 0机构: King Abdulaziz Univ, Princess Al Jawhara Albrahim Ctr Excellence Res H, Jeddah 21589, Saudi Arabia BGI Shenzhen, Shenzhen, Peoples R China King Abdulaziz Univ, Princess Al Jawhara Albrahim Ctr Excellence Res H, Jeddah 21589, Saudi ArabiaAl-Aama, Jumana Yousuf论文数: 0 引用数: 0 h-index: 0机构: King Abdulaziz Univ, Princess Al Jawhara Albrahim Ctr Excellence Res H, Jeddah 21589, Saudi Arabia King Abdulaziz Univ, Fac Med, Dept Med Genet, Jeddah 21413, Saudi Arabia King Abdulaziz Univ, Princess Al Jawhara Albrahim Ctr Excellence Res H, Jeddah 21589, Saudi Arabia论文数: 引用数: h-index:机构:Alkhiary, Yaser Mohammad论文数: 0 引用数: 0 h-index: 0机构: King Abdulaziz Univ, Fac Dent, Oral & Maxillofacial Prosthodont Dept, Jeddah 21413, Saudi Arabia King Abdulaziz Univ, Princess Al Jawhara Albrahim Ctr Excellence Res H, Jeddah 21589, Saudi Arabia
- [48] Immune response-associated gene analysis of 1,000 cancer patients using whole-exome sequencing and gene expression profiling-Project HOPE-BIOMEDICAL RESEARCH-TOKYO, 2016, 37 (04): : 233 - 242Akiyama, Yasuto论文数: 0 引用数: 0 h-index: 0机构: Shizuoka Canc Ctr Res Inst, Div Immunotherapy, 1007 Shimonagakubo, Nagaizumi, Shizuoka 4118777, Japan Shizuoka Canc Ctr Res Inst, Div Immunotherapy, 1007 Shimonagakubo, Nagaizumi, Shizuoka 4118777, JapanKondou, Ryota论文数: 0 引用数: 0 h-index: 0机构: Shizuoka Canc Ctr Res Inst, Div Immunotherapy, 1007 Shimonagakubo, Nagaizumi, Shizuoka 4118777, Japan Shizuoka Canc Ctr Res Inst, Div Immunotherapy, 1007 Shimonagakubo, Nagaizumi, Shizuoka 4118777, JapanIizuka, Akira论文数: 0 引用数: 0 h-index: 0机构: Shizuoka Canc Ctr Res Inst, Div Immunotherapy, 1007 Shimonagakubo, Nagaizumi, Shizuoka 4118777, Japan Shizuoka Canc Ctr Res Inst, Div Immunotherapy, 1007 Shimonagakubo, Nagaizumi, Shizuoka 4118777, JapanOhshima, Keiichi论文数: 0 引用数: 0 h-index: 0机构: Shizuoka Canc Ctr Res Inst, Div Med Genet, Shizuoka, Japan Shizuoka Canc Ctr Res Inst, Div Immunotherapy, 1007 Shimonagakubo, Nagaizumi, Shizuoka 4118777, JapanUrakami, Kenichi论文数: 0 引用数: 0 h-index: 0机构: Shizuoka Canc Ctr Res Inst, Canc Diagnost Res Div, Shizuoka, Japan Shizuoka Canc Ctr Res Inst, Div Immunotherapy, 1007 Shimonagakubo, Nagaizumi, Shizuoka 4118777, JapanNagashima, Takeshi论文数: 0 引用数: 0 h-index: 0机构: SRL Inc, Tokyo 1910002, Japan Shizuoka Canc Ctr Res Inst, Div Immunotherapy, 1007 Shimonagakubo, Nagaizumi, Shizuoka 4118777, JapanShimoda, Yuji论文数: 0 引用数: 0 h-index: 0机构: SRL Inc, Tokyo 1910002, Japan Shizuoka Canc Ctr Res Inst, Div Immunotherapy, 1007 Shimonagakubo, Nagaizumi, Shizuoka 4118777, JapanTanabe, Tomoe论文数: 0 引用数: 0 h-index: 0机构: SRL Inc, Tokyo 1910002, Japan Shizuoka Canc Ctr Res Inst, Div Immunotherapy, 1007 Shimonagakubo, Nagaizumi, Shizuoka 4118777, JapanOhnami, Sumiko论文数: 0 引用数: 0 h-index: 0机构: Shizuoka Canc Ctr Res Inst, Canc Diagnost Res Div, Shizuoka, Japan Shizuoka Canc Ctr Res Inst, Div Immunotherapy, 1007 Shimonagakubo, Nagaizumi, Shizuoka 4118777, JapanOhnami, Shumpei论文数: 0 引用数: 0 h-index: 0机构: Shizuoka Canc Ctr Res Inst, Canc Diagnost Res Div, Shizuoka, Japan Shizuoka Canc Ctr Res Inst, Div Immunotherapy, 1007 Shimonagakubo, Nagaizumi, Shizuoka 4118777, JapanKusuhara, Masatoshi论文数: 0 引用数: 0 h-index: 0机构: Shizuoka Canc Ctr Res Inst, Reg Resources Div, Shizuoka, Japan Shizuoka Canc Ctr Res Inst, Div Immunotherapy, 1007 Shimonagakubo, Nagaizumi, Shizuoka 4118777, JapanMochizuki, Tohru论文数: 0 引用数: 0 h-index: 0机构: Shizuoka Canc Ctr Res Inst, Div Med Genet, Shizuoka, Japan Shizuoka Canc Ctr Res Inst, Div Immunotherapy, 1007 Shimonagakubo, Nagaizumi, Shizuoka 4118777, JapanYamaguchi, Ken论文数: 0 引用数: 0 h-index: 0机构: Shizuoka Canc Ctr Hosp, Shizuoka 4118777, Japan Shizuoka Canc Ctr Res Inst, Div Immunotherapy, 1007 Shimonagakubo, Nagaizumi, Shizuoka 4118777, Japan
- [49] Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis (vol 99, pg 481, 2016)AMERICAN JOURNAL OF HUMAN GENETICS, 2016, 99 (03) : 785 - 785Polfus, Linda M.论文数: 0 引用数: 0 h-index: 0Khajuria, Rajiv K.论文数: 0 引用数: 0 h-index: 0Schick, Ursula M.论文数: 0 引用数: 0 h-index: 0Pankratz, Nathan论文数: 0 引用数: 0 h-index: 0Pazoki, Raha论文数: 0 引用数: 0 h-index: 0Brody, Jennifer A.论文数: 0 引用数: 0 h-index: 0Chen, Ming-Huei论文数: 0 引用数: 0 h-index: 0Auer, Paul L.论文数: 0 引用数: 0 h-index: 0Floyd, James S.论文数: 0 引用数: 0 h-index: 0Huang, Jie论文数: 0 引用数: 0 h-index: 0Lange, Leslie论文数: 0 引用数: 0 h-index: 0van Rooij, Frank J. A.论文数: 0 引用数: 0 h-index: 0Gibbs, Richard A.论文数: 0 引用数: 0 h-index: 0Metcalf, Ginger论文数: 0 引用数: 0 h-index: 0Muzny, Donna论文数: 0 引用数: 0 h-index: 0Veeraraghavan, Narayanan论文数: 0 引用数: 0 h-index: 0Walter, Klaudia论文数: 0 引用数: 0 h-index: 0Chen, Lu论文数: 0 引用数: 0 h-index: 0Yanek, Lisa论文数: 0 引用数: 0 h-index: 0Becker, Lewis C.论文数: 0 引用数: 0 h-index: 0Peloso, Gina M.论文数: 0 引用数: 0 h-index: 0Wakabayashi, Aoi论文数: 0 引用数: 0 h-index: 0Kals, Mart论文数: 0 引用数: 0 h-index: 0Metspalu, Andres论文数: 0 引用数: 0 h-index: 0Esko, Tonu论文数: 0 引用数: 0 h-index: 0Fox, Keolu论文数: 0 引用数: 0 h-index: 0Wallace, Robert论文数: 0 引用数: 0 h-index: 0Franceschini, Nora论文数: 0 引用数: 0 h-index: 0Matijevic, Nena论文数: 0 引用数: 0 h-index: 0Rice, Kenneth M.论文数: 0 引用数: 0 h-index: 0Bartz, Traci M.论文数: 0 引用数: 0 h-index: 0Lyytikainen, Leo-Pekka论文数: 0 引用数: 0 h-index: 0Kahonen, Mika论文数: 0 引用数: 0 h-index: 0Lehtimaki, Terho论文数: 0 引用数: 0 h-index: 0Raitakari, Olli T.论文数: 0 引用数: 0 h-index: 0Li-Gao, Ruifang论文数: 0 引用数: 0 h-index: 0Mook-Kanamori, Dennis O.论文数: 0 引用数: 0 h-index: 0Lettre, Guillaume论文数: 0 引用数: 0 h-index: 0van Duijn, Cornelia M.论文数: 0 引用数: 0 h-index: 0Franco, Oscar H.论文数: 0 引用数: 0 h-index: 0Rich, Stephen S.论文数: 0 引用数: 0 h-index: 0Rivadeneira, Fernando论文数: 0 引用数: 0 h-index: 0Hofman, Albert论文数: 0 引用数: 0 h-index: 0Uitterlinden, Andre G.论文数: 0 引用数: 0 h-index: 0Wilson, James G.论文数: 0 引用数: 0 h-index: 0Psaty, Bruce M.论文数: 0 引用数: 0 h-index: 0Soranzo, Nicole论文数: 0 引用数: 0 h-index: 0Dehghan, Abbas论文数: 0 引用数: 0 h-index: 0Boerwinkle, Eric论文数: 0 引用数: 0 h-index: 0Zhang, Xiaoling论文数: 0 引用数: 0 h-index: 0
- [50] Genome Analysis Using Whole-Exome Sequencing of Non-Syndromic Cleft Lip and/or Palate from Malagasy Trios Identifies Variants Associated with Cilium-Related Pathways and Asian Genetic AncestryGENES, 2023, 14 (03)Manojlovic, Zarko论文数: 0 引用数: 0 h-index: 0机构: Keck Sch Med USC, Dept Urol, Los Angeles, CA 90033 USA Keck Sch Med USC, Dept Translat Genom, Los Angeles, CA 90033 USA Keck Sch Med USC, Dept Urol, Los Angeles, CA 90033 USAAuslander, Allyn论文数: 0 引用数: 0 h-index: 0机构: Operat Smile Inc, Virginia Beach, VA 23453 USA Childrens Hosp Los Angeles, Div Plast & Maxillofacial Surg, Los Angeles, CA 90027 USA Keck Sch Med USC, Dept Urol, Los Angeles, CA 90033 USAJin, Yuxin论文数: 0 引用数: 0 h-index: 0机构: Keck Sch Med USC, Dept Translat Genom, Los Angeles, CA 90033 USA Keck Sch Med USC, Dept Urol, Los Angeles, CA 90033 USASchmidt, Ryan J.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Los Angeles, Dept Pathol & Lab Med, Los Angeles, CA 90027 USA Keck Sch Med USC, Dept Pathol, Los Angeles, CA 90033 USA Keck Sch Med USC, Dept Urol, Los Angeles, CA 90033 USAXu, Yili论文数: 0 引用数: 0 h-index: 0机构: Keck Sch Med USC, Dept Translat Genom, Los Angeles, CA 90033 USA Keck Sch Med USC, Dept Urol, Los Angeles, CA 90033 USAChang, Sharon论文数: 0 引用数: 0 h-index: 0机构: Keck Sch Med USC, Dept Translat Genom, Los Angeles, CA 90033 USA Keck Sch Med USC, Dept Urol, Los Angeles, CA 90033 USASong, Ruocen论文数: 0 引用数: 0 h-index: 0机构: Keck Sch Med USC, Dept Urol, Los Angeles, CA 90033 USA Keck Sch Med USC, Dept Urol, Los Angeles, CA 90033 USAIngles, Sue A.论文数: 0 引用数: 0 h-index: 0机构: Keck Sch Med USC, Dept Populat & Publ Hlth Sci, Los Angeles, CA 90033 USA Keck Sch Med USC, Dept Urol, Los Angeles, CA 90033 USANunes, Alana论文数: 0 引用数: 0 h-index: 0机构: Agilent Technol, Santa Clara, CA 95051 USA Keck Sch Med USC, Dept Urol, Los Angeles, CA 90033 USAVavra, K. C.论文数: 0 引用数: 0 h-index: 0机构: Agilent Technol, Santa Clara, CA 95051 USA Keck Sch Med USC, Dept Urol, Los Angeles, CA 90033 USAFeigelson, Devin论文数: 0 引用数: 0 h-index: 0机构: Operat Smile Inc, Virginia Beach, VA 23453 USA Keck Sch Med USC, Dept Urol, Los Angeles, CA 90033 USARakotoarison, Sylvia论文数: 0 引用数: 0 h-index: 0机构: Operat Smile Madagascar, Antananarivo 105, Madagascar Keck Sch Med USC, Dept Urol, Los Angeles, CA 90033 USADiBona, Melissa论文数: 0 引用数: 0 h-index: 0机构: Operat Smile Inc, Virginia Beach, VA 23453 USA Keck Sch Med USC, Dept Urol, Los Angeles, CA 90033 USAMagee, Kathy论文数: 0 引用数: 0 h-index: 0机构: Operat Smile Inc, Virginia Beach, VA 23453 USA Keck Sch Med USC, Dept Urol, Los Angeles, CA 90033 USASmile, Operation论文数: 0 引用数: 0 h-index: 0机构: Operat Smile Inc, Virginia Beach, VA 23453 USA Operat Smile Madagascar, Antananarivo 105, Madagascar Keck Sch Med USC, Dept Urol, Los Angeles, CA 90033 USARamamonjisoa, Anjaramamy论文数: 0 引用数: 0 h-index: 0机构: Operat Smile Madagascar, Antananarivo 105, Madagascar Keck Sch Med USC, Dept Urol, Los Angeles, CA 90033 USAMagee III, William论文数: 0 引用数: 0 h-index: 0机构: Keck Sch Med USC, Dept Translat Genom, Los Angeles, CA 90033 USA Operat Smile Inc, Virginia Beach, VA 23453 USA Childrens Hosp Los Angeles, Div Plast & Maxillofacial Surg, Los Angeles, CA 90027 USA Keck Sch Med USC, Div Plast & Reconstruct Surg, Los Angeles, CA 90033 USA Keck Sch Med USC, Dept Urol, Los Angeles, CA 90033 USA