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Author/Creator McEntagart, Meriel

11. Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities. Issue 5 (21st September 2020)

Authors:
Steel, Dora; Zech, Michael; Zhao, Chen; Barwick, Katy E. S.; Burke, Derek; Demailly, Diane; Kumar, Kishore R.; Zorzi, Giovanna; Nardocci, Nardo; Kaiyrzhanov, Rauan; Wagner, Matias; Iuso, Arcangela; Berutti, Riccardo; Škorvánek, Matej; Necpál, Ján; Davis, Ryan; Wiethoff, Sarah; Mankad, Kshitij; Su...
Journal:
Annals of neurology
Issue:
Volume 88:Issue 5(2020)
Page Start:
867
Record Type:
Journal Article
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12. Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel. Issue 1 (December 2016)

Authors:
Aharoni, Sharon; Barwick, Katy; Straussberg, Rachel; Harlalka, Gaurav; Nevo, Yoram; Chioza, Barry; McEntagart, Meriel; Mimouni-Bloch, Aviva; Weedon, Michael; Crosby, Andrew
Journal:
BMC medical genetics
Issue:
Volume 17:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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13. Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome. (20th March 2020)

Authors:
Alharatani, Reham; Ververi, Athina; Beleza-Meireles, Ana; Ji, Weizhen; Mis, Emily; Patterson, Quinten T; Griffin, John N; Bhujel, Nabina; Chang, Caitlin A; Dixit, Abhijit; Konstantino, Monica; Healy, Christopher; Hannan, Sumayyah; Neo, Natsuko; Cash, Alex; Li, Dong; Bhoj, Elizabeth; Zackai, Elain...
Journal:
Human molecular genetics
Issue:
Volume 29:Number 11(2020)
Page Start:
1900
Record Type:
Journal Article
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14. Pathogenic variants in MT‐ATP6: A United Kingdom–based mitochondrial disease cohort study. Issue 2 (1st July 2019)

Authors:
Ng, Yi Shiau; Martikainen, Mika H.; Gorman, Gráinne S.; Blain, Alasdair; Bugiardini, Enrico; Bunting, Apphia; Schaefer, Andrew M.; Alston, Charlotte L.; Blakely, Emma L.; Sharma, Sunil; Hughes, Imelda; Lim, Albert; de Goede, Christian; McEntagart, Meriel; Spinty, Stefan; Horrocks, Iain; Roberts, ...
Journal:
Annals of neurology
Issue:
Volume 86:Issue 2(2019)
Page Start:
310
Record Type:
Journal Article
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15. Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1. Issue 5 (20th June 2017)

Authors:
Suri, Mohnish; Evers, Jochem M. G.; Laskowski, Roman A.; O'Brien, Sinead; Baker, Kate; Clayton‐Smith, Jill; Dabir, Tabib; Josifova, Dragana; Joss, Shelagh; Kerr, Bronwyn; Kraus, Alison; McEntagart, Meriel; Morton, Jenny; Smith, Audrey; Splitt, Miranda; Thornton, Janet M.; Wright, Caroline F.
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 5:Issue 5(2017)
Page Start:
495
Record Type:
Journal Article
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16. Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study. Issue 3 (March 2022)

Authors:
Ibañez, Kristina; Polke, James; Hagelstrom, R Tanner; Dolzhenko, Egor; Pasko, Dorota; Thomas, Ellen Rachel Amy; Daugherty, Louise C; Kasperaviciute, Dalia; Smith, Katherine R; Deans, Zandra C; Hill, Sue; Fowler, Tom; Scott, Richard H; Hardy, John; Chinnery, Patrick F; Houlden, Henry; Rendon, Augu...
Journal:
Lancet neurology
Issue:
Volume 21:Issue 3(2022)
Page Start:
234
Record Type:
Journal Article
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17. Whole-genome analysis as a diagnostic tool for patients referred for diagnosis of Silver-Russell syndrome: a real-world study. Issue 6 (16th June 2021)

Authors:
Alhendi, Ahmed S N; Lim, Derek; McKee, Shane; McEntagart, Meriel; Tatton-Brown, Katriona; Temple, I Karen; Davies, Justin H; Mackay, Deborah J G
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 6(2022)
Page Start:
613
Record Type:
Journal Article
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18. ZMYND11‐related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum. Issue 5 (5th March 2020)

Authors:
Yates, Thabo M.; Drucker, Morgan; Barnicoat, Angela; Low, Karen; Gerkes, Erica H.; Fry, Andrew E.; Parker, Michael J.; O'Driscoll, Mary; Charles, Perrine; Cox, Helen; Marey, Isabelle; Keren, Boris; Rinne, Tuula; McEntagart, Meriel; Ramachandran, Vijaya; Drury, Suzanne; Vansenne, Fleur; Sival, Deb...
Journal:
Human mutation
Issue:
Volume 41:Issue 5(2020)
Page Start:
1042
Record Type:
Journal Article
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19. ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature. Issue 12 (31st July 2021)

Authors:
Kushary, Sulagna Tina; Revah‐Politi, Anya; Barua, Subit; Ganapathi, Mythily; Accogli, Andrea; Aggarwal, Vimla; Brunetti‐Pierri, Nicola; Cappuccio, Gerarda; Capra, Valeria; Fagerberg, Christina R.; Gazdagh, Gabriella; Guzman, Edwin; Hadonou, Medard; Harrison, Victoria; Havelund, Kathrine; Iancu, D...
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 12(2021)
Page Start:
3740
Record Type:
Journal Article
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