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Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing
Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing
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Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

Sanchis-Juan, Alba ; Stephens, Jonathan ; French, Courtney E ; Gleadall, Nicholas ; Mégy, Karyn ; Penkett, Christopher ; Shamardina, Olga ; Stirrups, Kathleen ; Delon, Isabelle ; Dewhurst, Eleanor ; Dolling, Helen ; Erwood, Marie ; Grozeva, Detelina ; Stefanucci, Luca ; Arno, Gavin ; Webster, Andrew R ; Cole, Trevor ; Austin, Topun ; Branco, Ricardo Garcia ; Ouwehand, Willem H ; Raymond, F Lucy ; Carss, Keren J

Genome medicine, 2018-12, Vol.10 (1), p.95-95, Article 95 [Periódico revisado por pares]

England: BioMed Central Ltd

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2
Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan
Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan
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Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan

Carss, Keren J. ; Stevens, Elizabeth ; Foley, A. Reghan ; Cirak, Sebahattin ; Riemersma, Moniek ; Torelli, Silvia ; Hoischen, Alexander ; Willer, Tobias ; van Scherpenzeel, Monique ; Moore, Steven A. ; Messina, Sonia ; Bertini, Enrico ; Bönnemann, Carsten G. ; Abdenur, Jose E. ; Grosmann, Carla M. ; Kesari, Akanchha ; Punetha, Jaya ; Quinlivan, Ros ; Waddell, Leigh B. ; Young, Helen K. ; Wraige, Elizabeth ; Yau, Shu ; Brodd, Lina ; Feng, Lucy ; Sewry, Caroline ; MacArthur, Daniel G. ; North, Kathryn N. ; Hoffman, Eric ; Stemple, Derek L. ; Hurles, Matthew E. ; van Bokhoven, Hans ; Campbell, Kevin P. ; Lefeber, Dirk J. ; Lin, Yung-Yao ; Muntoni, Francesco

American journal of human genetics, 2013-07, Vol.93 (1), p.29-41 [Periódico revisado por pares]

United States: Elsevier Inc

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3
Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan
Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan
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Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan

Stevens, Elizabeth ; Carss, Keren J. ; Cirak, Sebahattin ; Foley, A. Reghan ; Torelli, Silvia ; Willer, Tobias ; Tambunan, Dimira E. ; Yau, Shu ; Brodd, Lina ; Sewry, Caroline A. ; Feng, Lucy ; Haliloglu, Goknur ; Orhan, Diclehan ; Dobyns, William B. ; Enns, Gregory M. ; Manning, Melanie ; Krause, Amanda ; Salih, Mustafa A. ; Walsh, Christopher A. ; Hurles, Matthew ; Campbell, Kevin P. ; Manzini, M. Chiara ; Stemple, Derek ; Lin, Yung-Yao ; Muntoni, Francesco

American journal of human genetics, 2013-03, Vol.92 (3), p.354-365 [Periódico revisado por pares]

United States: Elsevier Inc

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4
Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound
Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound
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Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound

Carss, Keren J ; Hillman, Sarah C ; Parthiban, Vijaya ; McMullan, Dominic J ; Maher, Eamonn R ; Kilby, Mark D ; Hurles, Matthew E

Human molecular genetics, 2014-06, Vol.23 (12), p.3269-3277 [Periódico revisado por pares]

England: Oxford University Press

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5
Using human genetics to improve safety assessment of therapeutics
Using human genetics to improve safety assessment of therapeutics
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Using human genetics to improve safety assessment of therapeutics

Carss, Keren J ; Deaton, Aimee M ; Del Rio-Espinola, Alberto ; Diogo, Dorothée ; Fielden, Mark ; Kulkarni, Diptee A ; Moggs, Jonathan ; Newham, Peter ; Nelson, Matthew R ; Sistare, Frank D ; Ward, Lucas D ; Yuan, Jing

Nature reviews. Drug discovery, 2023-02, Vol.22 (2), p.145-162 [Periódico revisado por pares]

England: Nature Publishing Group

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6
Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases
Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases
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Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases

Ellingford, Jamie M ; Horn, Bradley ; Campbell, Christopher ; Arno, Gavin ; Barton, Stephanie ; Tate, Catriona ; Bhaskar, Sanjeev ; Sergouniotis, Panagiotis I ; Taylor, Rachel L ; Carss, Keren J ; Raymond, Lucy F L ; Michaelides, Michel ; Ramsden, Simon C ; Webster, Andrew R ; Black, Graeme C M

Journal of medical genetics, 2018-02, Vol.55 (2), p.114-121 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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7
Phenotypic insights into ADCY5-associated disease
Phenotypic insights into ADCY5-associated disease
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Phenotypic insights into ADCY5-associated disease

Chang, Florence C.F. ; Westenberger, Ana ; Dale, Russell C. ; Smith, Martin ; Pall, Hardev S. ; Perez-Dueñas, Belen ; Grattan-Smith, Padraic ; Ouvrier, Robert A. ; Mahant, Neil ; Hanna, Bernadette C. ; Hunter, Matthew ; Lawson, John A. ; Max, Christoph ; Sachdev, Rani ; Meyer, Esther ; Crimmins, Dennis ; Pryor, Donald ; Morris, John G.L. ; Münchau, Alex ; Grozeva, Detelina ; Carss, Keren J. ; Raymond, Lucy ; Kurian, Manju A. ; Klein, Christine ; Fung, Victor S.C.

Movement disorders, 2016-07, Vol.31 (7), p.1033-1040 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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8
A clinical and molecular characterisation of CRB1-associated maculopathy
A clinical and molecular characterisation of CRB1-associated maculopathy
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A clinical and molecular characterisation of CRB1-associated maculopathy

Khan, Kamron N ; Robson, Anthony ; Mahroo, Omar A R ; Arno, Gavin ; Inglehearn, Chris F ; Armengol, Monica ; Waseem, Naushin ; Holder, Graham E ; Carss, Keren J ; Raymond, Lucy F ; Webster, Andrew R ; Moore, Anthony T ; McKibbin, Martin ; van Genderen, Maria M ; Poulter, James A ; Michaelides, Michel

European journal of human genetics : EJHG, 2018-05, Vol.26 (5), p.687-694 [Periódico revisado por pares]

England: Nature Publishing Group

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9
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders
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Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders

Sanchis-Juan, Alba ; Megy, Karyn ; Stephens, Jonathan ; Armirola Ricaurte, Camila ; Dewhurst, Eleanor ; Low, Kayyi ; French, Courtney E. ; Grozeva, Detelina ; Stirrups, Kathleen ; Erwood, Marie ; McTague, Amy ; Penkett, Christopher J. ; Shamardina, Olga ; Tuna, Salih ; Daugherty, Louise C. ; Gleadall, Nicholas ; Duarte, Sofia T. ; Hedrera-Fernández, Antonio ; Vogt, Julie ; Ambegaonkar, Gautam ; Chitre, Manali ; Josifova, Dragana ; Kurian, Manju A. ; Parker, Alasdair ; Rankin, Julia ; Reid, Evan ; Wakeling, Emma ; Wassmer, Evangeline ; Woods, C. Geoffrey ; Raymond, F. Lucy ; Carss, Keren J.

American journal of human genetics, 2023-08, Vol.110 (8), p.1343-1355 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy
Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy
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Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy

Levine, Adam P ; Chan, Melanie M Y ; Sadeghi-Alavijeh, Omid ; Wong, Edwin K S ; Cook, H Terence ; Ashford, Sofie ; Carss, Keren ; Christian, Martin T ; Hall, Matthew ; Harris, Claire Louise ; McAlinden, Paul ; Marchbank, Kevin J ; Marks, Stephen D ; Maxwell, Heather ; Megy, Karyn ; Penkett, Christopher J ; Mozere, Monika ; Stirrups, Kathleen E ; Tuna, Salih ; Wessels, Julie ; Whitehorn, Deborah ; Johnson, Sally A ; Gale, Daniel P

Journal of the American Society of Nephrology, 2020-02, Vol.31 (2), p.365-373 [Periódico revisado por pares]

United States: American Society of Nephrology

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