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- [1] VARIANTS IN LPA ARE ASSOCIATED WITH MUTATION-NEGATIVE FAMILIAL HYPERCHOLESTEROLAEMIA: WHOLE GENOME SEQUENCING ANALYSIS IN THE 100,000 GENOMES PROJECTATHEROSCLEROSIS PLUS, 2024, 57 : 2 - 2Bird, Martin论文数: 0 引用数: 0 h-index: 0机构: St Georges Univ London, Cardiol Res Ctr, Cardiovasc & Genom Res Inst, London, England St Georges Univ London, Cardiol Res Ctr, Cardiovasc & Genom Res Inst, London, EnglandRimbert, Antoine论文数: 0 引用数: 0 h-index: 0机构: Nantes Univ, CNRS, INSERM, Inst Thorax, F-44000 Nantes, France St Georges Univ London, Cardiol Res Ctr, Cardiovasc & Genom Res Inst, London, EnglandPittman, Alan M.论文数: 0 引用数: 0 h-index: 0机构: St Georges Univ London, Genet Res Sect, Cardiovasc & Genom Res Inst, London, England St Georges Univ London, Cardiol Res Ctr, Cardiovasc & Genom Res Inst, London, EnglandHumphries, Steve E.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Cardiovasc Sci, Fac Populat Hlth, London, England St Georges Univ London, Cardiol Res Ctr, Cardiovasc & Genom Res Inst, London, England论文数: 引用数: h-index:机构:
- [2] Variants in LPA are associated with mutation-negative Familial Hypercholesterolaemia: whole genome sequencing analysis in the 100,000 Genomes ProjectEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1016 - 1016Bird, Martin论文数: 0 引用数: 0 h-index: 0机构: St Georges Univ London, Cardiovasc & Genom Res Inst, London, England St Georges Univ London, Cardiovasc & Genom Res Inst, London, EnglandRimbert, Antoine论文数: 0 引用数: 0 h-index: 0机构: Nantes Univ, Inst Thorax Unite, Nantes, France St Georges Univ London, Cardiovasc & Genom Res Inst, London, England论文数: 引用数: h-index:机构:Humphries, Steve论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Cardiovasc Sci, London, England St Georges Univ London, Cardiovasc & Genom Res Inst, London, England论文数: 引用数: h-index:机构:
- [3] WHOLE GENOME ANALYSIS OF FAMILIAL PNEUMOTHORAX BY THE 100,000 GENOMES PROJECTTHORAX, 2019, 74 : A8 - A9Grimes, H. L.论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Cambridge, England Univ Cambridge, Cambridge, EnglandBrown, D.论文数: 0 引用数: 0 h-index: 0机构: Genom England Res Consortium, London, England Univ Cambridge, Cambridge, EnglandHolden, S.论文数: 0 引用数: 0 h-index: 0机构: Addenbrookes Hosp, Cambridge, England Univ Cambridge, Cambridge, EnglandBabar, J.论文数: 0 引用数: 0 h-index: 0机构: Addenbrookes Hosp, Cambridge, England Univ Cambridge, Cambridge, EnglandKaria, S.论文数: 0 引用数: 0 h-index: 0机构: Addenbrookes Hosp, Cambridge, England Univ Cambridge, Cambridge, EnglandHerre, J.论文数: 0 引用数: 0 h-index: 0机构: Addenbrookes Hosp, Cambridge, England Univ Cambridge, Cambridge, EnglandKnolle, M.论文数: 0 引用数: 0 h-index: 0机构: Addenbrookes Hosp, Cambridge, England Univ Cambridge, Cambridge, England论文数: 引用数: h-index:机构:Marciniak, S. J.论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Cambridge, England Univ Cambridge, Cambridge, England
- [4] THE GENETIC COMPLEXITY OF FAMILIAL HYPERCHOLESTEROLAEMIA: WHOLE GENOME SEQUENCING ANALYSIS IN 100,000 GENOME PROJECTATHEROSCLEROSIS, 2024, 395Bird, Martin论文数: 0 引用数: 0 h-index: 0机构: St Georges Univ London, Mol & Clin Sci Res Inst, London, England St Georges Univ London, Mol & Clin Sci Res Inst, London, EnglandRimbert, Antoine论文数: 0 引用数: 0 h-index: 0机构: Nantes Univ, CHU Nantes, INSERM, CNRS,Inst Thorax, Nantes, France St Georges Univ London, Mol & Clin Sci Res Inst, London, EnglandPittman, Alan论文数: 0 引用数: 0 h-index: 0机构: St Georges Univ London, Mol & Clin Sci Res Inst, London, England St Georges Univ London, Mol & Clin Sci Res Inst, London, EnglandHumphries, Steve论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Cardiovasc Sci, London, England St Georges Univ London, Mol & Clin Sci Res Inst, London, EnglandFutema, Marta论文数: 0 引用数: 0 h-index: 0机构: St Georges Univ London, Mol & Clin Sci Res Inst, London, England St Georges Univ London, Mol & Clin Sci Res Inst, London, England
- [5] IDENTIFICATION OF FH-CAUSING VARIANTS IN PATIENTS WITH CLINICAL FAMILIAL HYPERCHOLESTEROLAEMIA RECRUITED INTO THE 100,000 GENOME PROJECT: PRELIMINARY ANALYSISATHEROSCLEROSIS PLUS, 2021, 43 : S4 - S4Rimbert, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Nantes, CNRS, Institut thorax, INSERM, Nantes, France Univ Nantes, CNRS, Institut thorax, INSERM, Nantes, FranceFutema, M.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Cardiovasc Sci, Ctr Heart Muscle Dis, London, England Univ Nantes, CNRS, Institut thorax, INSERM, Nantes, FranceWilliams, M.论文数: 0 引用数: 0 h-index: 0机构: North Bristol NHS Trust, Bristol Genet Lab, Bristol, England Univ Nantes, CNRS, Institut thorax, INSERM, Nantes, FranceWatson, E.论文数: 0 引用数: 0 h-index: 0机构: North Bristol NHS Trust, Bristol Genet Lab, Bristol, England Univ Nantes, CNRS, Institut thorax, INSERM, Nantes, FranceHumphries, S. E.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Cardiovasc Sci, Ctr Cardiovasc Genet, London, England Univ Nantes, CNRS, Institut thorax, INSERM, Nantes, France
- [6] Rare disease gene association discovery in the 100,000 Genomes ProjectNATURE, 2025,Cipriani, Valentina论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, England UCL, UCL Inst Ophthalmol, London, England UCL, UCL Genet Inst, London, England Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, EnglandVestito, Letizia论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, England Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, EnglandMagavern, Emma F.论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, England Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, EnglandJacobsen, Julius O. B.论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, England Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, England论文数: 引用数: h-index:机构:Behr, Elijah R.论文数: 0 引用数: 0 h-index: 0机构: City St Georges Univ London, Cardiovasc & Genom Res Inst, Sch Hlth & Med Sci, Cardiol Sect, LONDON, England St Georges Univ Hosp NHS Fdn Trust, Cardiol Dept, London, England Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, EnglandBenson, Katherine A.论文数: 0 引用数: 0 h-index: 0机构: Royal Coll Surgeons Ireland, Sch Pharm & Biomol Sci, Dublin, Ireland Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, EnglandBertoli, Marta论文数: 0 引用数: 0 h-index: 0机构: Newcastle Upon Tyne NHS Fdn Trust, Virol, Newcastle Upon Tyne, England Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, EnglandBockenhauer, Detlef论文数: 0 引用数: 0 h-index: 0机构: Catholic Univ Leuven Radiol, Univ Hosp, Louvain, Belgium Katholieke Univ Leuven, Leuven, Belgium Imperial Coll London, Dept Renal Med, London, England Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, EnglandBowl, Michael R.论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Ear Inst, London, England Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, EnglandBurley, Kate论文数: 0 引用数: 0 h-index: 0机构: Univ Bristol, Sch Cellular & Mol Med, Bristol, England Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, EnglandChan, Li F.论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, William Harvey Res Inst, Ctr Endocrinol, London, England Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, EnglandChinnery, Patrick论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Med Res Council, Mitochondrial Biol Unit, Cambridge Biomed Campus, Cambridge, England Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, EnglandConlon, Peter J.论文数: 0 引用数: 0 h-index: 0机构: Royal Coll Surgeons Ireland, Beaumont Hosp, Dublin, Ireland Beaumont Hosp, Dept Nephrol, Dublin, Ireland Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, EnglandCosta, Marcos A.论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Inst Ophthalmol, London, England Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, EnglandDavidson, Alice E.论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Inst Ophthalmol, London, England Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, EnglandDawson, Sally J.论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Ear Inst, London, England Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, EnglandElhassan, Elhussein A. E.论文数: 0 引用数: 0 h-index: 0机构: Royal Coll Surgeons Ireland, Beaumont Hosp, Dublin, Ireland Beaumont Hosp, Dept Nephrol, Dublin, Ireland Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, EnglandFlanagan, Sarah E.论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Med Sch, Dept Clin & Biomed Sci, Exeter, England Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, England论文数: 引用数: h-index:机构:Gale, Daniel P.论文数: 0 引用数: 0 h-index: 0机构: Imperial Coll London, Dept Renal Med, London, England Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, EnglandGarcia-Ruiz, Sonia论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Queen Sq Inst Neurol, Dept Neurodegenerat Dis, London, England UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London, England Aligning Sci Parkinsons ASAP Collaborat Res Networ, Chevy Chase, MD USA Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, EnglandCorcia, Cecilia Gonzalez论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Dept Pediat, CHU St Justine, Montreal, PQ, Canada McGill Univ, Montreal, PQ, Canada Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, EnglandGriffin, Helen R.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Translat & Clin Res Inst, Newcastle Upon Tyne, England Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, EnglandHambleton, Sophie论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Translat & Clin Res Inst, Newcastle Upon Tyne, England Great North Childrens Hosp, Newcastle Upon Tyne, England Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, EnglandHicks, Amy R.论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Queen Sq Inst Neurol, Dept Neurodegenerat Dis, London, England UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London, England Aligning Sci Parkinsons ASAP Collaborat Res Networ, Chevy Chase, MD USA Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, EnglandHoulden, Henry论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, London, England Natl Hosp Neurol & Neurosurg, London, England Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, EnglandHoulston, Richard S.论文数: 0 引用数: 0 h-index: 0机构: Inst Canc Res, Div Genet & Epidemiol, London, England Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, EnglandHowles, Sarah A.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Nuffield Dept Surg Sci, Oxford, England Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, EnglandKleta, Robert论文数: 0 引用数: 0 h-index: 0机构: Imperial Coll London, Dept Renal Med, London, England Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, EnglandLekkerkerker, Iris论文数: 0 引用数: 0 h-index: 0机构: UMC Utrecht, Dept Genet, Utrecht, Netherlands Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, EnglandLin, Siying论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Inst Ophthalmol, London, England Moorfields Eye Hosp, Biomed Res Ctr, Natl Inst Hlth Res, London, England Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, EnglandLiskova, Petra论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Gen Univ Hosp Prague, Fac Med 1, Prague, Czech Republic Gen Univ Hosp Prague, Prague, Czech Republic Charles Univ Prague, Gen Univ Hosp, Fac Med 1, Prague, Czech Republic Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, EnglandMitchison, Hannah H.论文数: 0 引用数: 0 h-index: 0机构: UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London, England Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, EnglandMorsy, Heba论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Neuromuscular Dis, London, England Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, EnglandMumford, Andrew D.论文数: 0 引用数: 0 h-index: 0机构: Univ Bristol, Sch Cellular & Mol Med, Bristol, England Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, EnglandNewman, William G.论文数: 0 引用数: 0 h-index: 0机构: Univ Manchester, Div Evolut Infect & Genom, Manchester, England Manchester Univ NHS Fdn Trust, Manchester Ctr Genom Med, Manchester, England Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, England论文数: 引用数: h-index:机构:O'Toole, Edel A.论文数: 0 引用数: 0 h-index: 0机构: QMUL, Blizard Inst, Ctr Cell Biol & Cutaneous Res, London, England Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, EnglandOng, Albert C. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Sheffield, Sch Med & Populat Hlth, Div Clin Med, Kidney Genet Grp, Sheffield, England Sheffield Teaching Hosp NHS Fdn Trust, Sheffield Kidney Inst, Sheffield, England Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, EnglandPagnamenta, Alistair T.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Ctr Human Genet, Oxford, England NIHR Oxford Biomed Res Ctr, Oxford, England Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, EnglandRahman, Shamima论文数: 0 引用数: 0 h-index: 0机构: UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London, England Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, England论文数: 引用数: h-index:机构:Robinson, Peter N.论文数: 0 引用数: 0 h-index: 0机构: Jackson Lab Genom Med, Farmington, CT USA Charite Univ Med Berlin, Berlin Inst Hlth, Berlin, Germany Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, EnglandRyten, Mina论文数: 0 引用数: 0 h-index: 0机构: UCL, Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London, England Aligning Sci Parkinsons ASAP Collaborat Res Networ, Chevy Chase, MD USA Great Ormond St Inst Child Hlth, NIHR GOSH Biomed Res Ctr, London, England Univ Cambridge, Sch Clin Med, Dept Clin Neurosci, Cambridge, England Univ Cambridge, Dept Med Genet, NIHR Cambridge Biomed Res Ctr, Cambridge, England Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, EnglandSadeghi-Alavijeh, Omid论文数: 0 引用数: 0 h-index: 0机构: Imperial Coll London, Dept Renal Med, London, England Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, EnglandSayer, John A.论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, EnglandShovlin, Claire L.论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, EnglandTaylor, Jenny C.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Ctr Human Genet, Oxford, England NIHR Oxford Biomed Res Ctr, Oxford, England Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, EnglandTeltsh, Omri论文数: 0 引用数: 0 h-index: 0机构: Royal Coll Surgeons Ireland, Sch Pharm & Biomol Sci, Dublin, Ireland Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol & Precis Med, London, England
- [7] Medical genome sequencing in the 100,000 Genomes Project Rare Disease ProgrammeEUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 26 - 26Scott, R. H.论文数: 0 引用数: 0 h-index: 0机构: Genom England, London, England Genom England, London, England
- [8] A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes ProjectGENOME MEDICINE, 2022, 14 (01)Blakes, Alexander J. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Southampton, Fac Med Human Dev & Hlth, Southampton, Hants, England Imperial Coll London, Fac Med, Natl Heart & Lung Inst, London, England Univ Southampton, Fac Med Human Dev & Hlth, Southampton, Hants, EnglandWai, Htoo A.论文数: 0 引用数: 0 h-index: 0机构: Univ Southampton, Fac Med Human Dev & Hlth, Southampton, Hants, England Univ Southampton, Fac Med Human Dev & Hlth, Southampton, Hants, EnglandDavies, Ian论文数: 0 引用数: 0 h-index: 0机构: Univ Southampton, Fac Med, Canc Sci, Southampton, Hants, England Univ Southampton, Fac Med Human Dev & Hlth, Southampton, Hants, EnglandMoledina, Hassan E.论文数: 0 引用数: 0 h-index: 0机构: Univ Southampton, Fac Med Human Dev & Hlth, Southampton, Hants, England Univ Southampton, Fac Med Human Dev & Hlth, Southampton, Hants, EnglandRuiz, April论文数: 0 引用数: 0 h-index: 0机构: Princess Anne Hosp, Wessex Clin Genet Serv, Southampton, Hants, England Univ Southampton, Fac Med Human Dev & Hlth, Southampton, Hants, EnglandThomas, Tessy论文数: 0 引用数: 0 h-index: 0机构: Princess Anne Hosp, Wessex Clin Genet Serv, Southampton, Hants, England Univ Southampton, Fac Med Human Dev & Hlth, Southampton, Hants, EnglandBunyan, David论文数: 0 引用数: 0 h-index: 0机构: Salisbury Dist Hosp, Wessex Reg Genet Lab, Salisbury, Wilts, England Univ Southampton, Fac Med, Southampton, Hants, England Univ Southampton, Fac Med Human Dev & Hlth, Southampton, Hants, EnglandThomas, N. Simon论文数: 0 引用数: 0 h-index: 0机构: Salisbury Dist Hosp, Wessex Reg Genet Lab, Salisbury, Wilts, England Univ Southampton, Fac Med, Southampton, Hants, England Univ Southampton, Fac Med Human Dev & Hlth, Southampton, Hants, EnglandBurren, Christine P.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Bristol & Weston NHS Fdn Trust, Dept Paediat Endocrinol & Diabet, Bristol, Avon, England Univ Bristol, Bristol Med Sch, Dept Translat Hlth Sci, Bristol, Avon, England Univ Southampton, Fac Med Human Dev & Hlth, Southampton, Hants, EnglandGreenhalgh, Lynn论文数: 0 引用数: 0 h-index: 0机构: Liverpool Ctr Genom Med, Crown St, Liverpool, Merseyside, England Univ Southampton, Fac Med Human Dev & Hlth, Southampton, Hants, EnglandLees, Melissa论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, North East Thames Reg Genom Serv, London, England Univ Southampton, Fac Med Human Dev & Hlth, Southampton, Hants, EnglandPichini, Amanda论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Bristol & Weston Fdn Trust, Dept Clin Genet, Bristol, Avon, England Genom England, Dawson Hall,Charterhouse Sq, London, England Univ Southampton, Fac Med Human Dev & Hlth, Southampton, Hants, EnglandSmithson, Sarah F.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Bristol & Weston Fdn Trust, Dept Clin Genet, Bristol, Avon, England Univ Southampton, Fac Med Human Dev & Hlth, Southampton, Hants, EnglandTavares, Ana Lisa Taylor论文数: 0 引用数: 0 h-index: 0机构: Genom England, Dawson Hall,Charterhouse Sq, London, England Cambridge Univ Hosp NHS Fdn Trust, Cambridge Biomed Campus,Hills Rd, Cambridge, England Univ Southampton, Fac Med Human Dev & Hlth, Southampton, Hants, EnglandO'Donovan, Peter论文数: 0 引用数: 0 h-index: 0机构: Genom England, Dawson Hall,Charterhouse Sq, London, England Univ Southampton, Fac Med Human Dev & Hlth, Southampton, Hants, EnglandDouglas, Andrew G. L.论文数: 0 引用数: 0 h-index: 0机构: Univ Southampton, Fac Med Human Dev & Hlth, Southampton, Hants, England Oxford Univ Hosp NHS Fdn Trust, Oxford Ctr Genom Med, Oxford, England Univ Southampton, Fac Med Human Dev & Hlth, Southampton, Hants, EnglandWhiffin, Nicola论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Ctr Human Genet, Oxford, England Univ Southampton, Fac Med Human Dev & Hlth, Southampton, Hants, EnglandBaralle, Diana论文数: 0 引用数: 0 h-index: 0机构: Univ Southampton, Fac Med Human Dev & Hlth, Southampton, Hants, England Princess Anne Hosp, Wessex Clin Genet Serv, Southampton, Hants, England Univ Southampton, Fac Med Human Dev & Hlth, Southampton, Hants, EnglandLord, Jenny论文数: 0 引用数: 0 h-index: 0机构: Univ Southampton, Fac Med Human Dev & Hlth, Southampton, Hants, England Univ Southampton, Fac Med Human Dev & Hlth, Southampton, Hants, England
- [9] A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes ProjectEUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 58 - 58Blakes, Alexander论文数: 0 引用数: 0 h-index: 0机构: Manchester Ctr Genom Med, Manchester, Lancs, England Manchester Ctr Genom Med, Manchester, Lancs, EnglandWai, Htoo论文数: 0 引用数: 0 h-index: 0机构: Univ Southampton, Human Dev & Hlth, Southampton, Hants, England Manchester Ctr Genom Med, Manchester, Lancs, EnglandDavies, Ian论文数: 0 引用数: 0 h-index: 0机构: Univ Southampton, Canc Sci, Fac Med, Southampton, Hants, England Manchester Ctr Genom Med, Manchester, Lancs, EnglandMoledina, Hassan论文数: 0 引用数: 0 h-index: 0机构: Univ Southampton, Human Dev & Hlth, Southampton, Hants, England Manchester Ctr Genom Med, Manchester, Lancs, EnglandRuiz, April论文数: 0 引用数: 0 h-index: 0机构: Princess Anne Hosp, Wessex Clin Genet Serv, Southampton, Hants, England Manchester Ctr Genom Med, Manchester, Lancs, EnglandThomas, Tessy论文数: 0 引用数: 0 h-index: 0机构: Princess Anne Hosp, Wessex Clin Genet Serv, Southampton, Hants, England Manchester Ctr Genom Med, Manchester, Lancs, EnglandBunyan, Dave论文数: 0 引用数: 0 h-index: 0机构: Salisbury Dist Hosp, Wessex Reg Genet Lab, Salisbury, Wilts, England Manchester Ctr Genom Med, Manchester, Lancs, EnglandThomas, N. Simon论文数: 0 引用数: 0 h-index: 0机构: Salisbury Dist Hosp, Wessex Reg Genet Lab, Salisbury, Wilts, England Manchester Ctr Genom Med, Manchester, Lancs, EnglandBurren, Christone论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Bristol & Weston NHS Fdn Trust, Dept Paediat Endocrinol & Diabet, Bristol, Avon, England Manchester Ctr Genom Med, Manchester, Lancs, EnglandGreenhalgh, Lynn论文数: 0 引用数: 0 h-index: 0机构: Liverpool Ctr Genom Med, Liverpool, Merseyside, England Manchester Ctr Genom Med, Manchester, Lancs, EnglandLees, Melissa论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, North East Thames Reg Genom Serv, London, England Manchester Ctr Genom Med, Manchester, Lancs, EnglandPichini, Amanda论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Bristol NHS Fdn Trust, Bristol, Avon, England Manchester Ctr Genom Med, Manchester, Lancs, EnglandSmithson, Sarah论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Bristol & Weston Fdon Trust, Dept Clin Genet, Bristol, Avon, England Manchester Ctr Genom Med, Manchester, Lancs, EnglandTavares, Ana Lisa论文数: 0 引用数: 0 h-index: 0机构: Gen England, Lonodn, England Manchester Ctr Genom Med, Manchester, Lancs, EnglandO'Donovan, Peter论文数: 0 引用数: 0 h-index: 0机构: Gen England, Lonodn, England Manchester Ctr Genom Med, Manchester, Lancs, EnglandDouglas, Andrew论文数: 0 引用数: 0 h-index: 0机构: Oxford Univ Hosp NHS Fdn Trust, Oxford Ctr Genom Med, Oxford, England Manchester Ctr Genom Med, Manchester, Lancs, EnglandWhiffin, Nicola论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Ctr Human Genet, Oxford, England Manchester Ctr Genom Med, Manchester, Lancs, England论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:
- [10] A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes ProjectGenome Medicine, 14Alexander J. M. Blakes论文数: 0 引用数: 0 h-index: 0机构: Human Development and Health,Faculty of MedicineHtoo A. Wai论文数: 0 引用数: 0 h-index: 0机构: Human Development and Health,Faculty of MedicineIan Davies论文数: 0 引用数: 0 h-index: 0机构: Human Development and Health,Faculty of MedicineHassan E. Moledina论文数: 0 引用数: 0 h-index: 0机构: Human Development and Health,Faculty of MedicineApril Ruiz论文数: 0 引用数: 0 h-index: 0机构: Human Development and Health,Faculty of MedicineTessy Thomas论文数: 0 引用数: 0 h-index: 0机构: Human Development and Health,Faculty of MedicineDavid Bunyan论文数: 0 引用数: 0 h-index: 0机构: Human Development and Health,Faculty of MedicineN. Simon Thomas论文数: 0 引用数: 0 h-index: 0机构: Human Development and Health,Faculty of MedicineChristine P. Burren论文数: 0 引用数: 0 h-index: 0机构: Human Development and Health,Faculty of MedicineLynn Greenhalgh论文数: 0 引用数: 0 h-index: 0机构: Human Development and Health,Faculty of MedicineMelissa Lees论文数: 0 引用数: 0 h-index: 0机构: Human Development and Health,Faculty of MedicineAmanda Pichini论文数: 0 引用数: 0 h-index: 0机构: Human Development and Health,Faculty of MedicineSarah F. Smithson论文数: 0 引用数: 0 h-index: 0机构: Human Development and Health,Faculty of MedicineAna Lisa Taylor Tavares论文数: 0 引用数: 0 h-index: 0机构: Human Development and Health,Faculty of MedicinePeter O’Donovan论文数: 0 引用数: 0 h-index: 0机构: Human Development and Health,Faculty of MedicineAndrew G. L. Douglas论文数: 0 引用数: 0 h-index: 0机构: Human Development and Health,Faculty of MedicineNicola Whiffin论文数: 0 引用数: 0 h-index: 0机构: Human Development and Health,Faculty of MedicineDiana Baralle论文数: 0 引用数: 0 h-index: 0机构: Human Development and Health,Faculty of MedicineJenny Lord论文数: 0 引用数: 0 h-index: 0机构: Human Development and Health,Faculty of Medicine