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Author/Creator Baple, Emma

1. 19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference. (January 2018)

Authors:
Trimouille, Aurélien; Houcinat, Nada; Vuillaume, Marie-Laure; Fergelot, Patricia; Boucher, Cécile; Toutain, Jérôme; Caignec, Cédric; Vincent, Marie; Nizon, Mathilde; Andrieux, Joris; Vanlerberghe, Clémence; Delobel, Bruno; Duban, Bénédicte; Mansour, Sahar; Baple, Emma; McKeown, Colina; Poke, Gemm...
Journal:
European journal of human genetics
Issue:
Volume 26:Number 1(2018)
Page Start:
85
Record Type:
Journal Article
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3. A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia. (19th August 2019)

Authors:
Rautengarten, Carsten; Quarrell, Oliver W; Stals, Karen; Caswell, Richard C; De Franco, Elisa; Baple, Emma; Burgess, Nadia; Jokhi, Roobin; Heazlewood, Joshua L; Offiah, Amaka C; Ebert, Berit; Ellard, Sian
Journal:
Human molecular genetics
Issue:
Volume 28:Number 21(2019)
Page Start:
3543
Record Type:
Journal Article
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4. A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations. Issue 1 (December 2015)

Authors:
Iype, Thomas; Alakbarzade, Vafa; Iype, Mary; Singh, Royana; Sreekantan-Nair, Ajith; Chioza, Barry; Mohapatra, Tribhuvan; Baple, Emma; Patton, Michael; Warner, Thomas; Proukakis, Christos; Kulkarni, Abhi; Crosby, Andrew
Journal:
BMC medical genetics
Issue:
Volume 16:Issue 1(2015)
Page Start:
1
Record Type:
Journal Article
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5. Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders. Issue 9 (2nd August 2013)

Authors:
Poole, Rebecca L.; Docherty, Louise E.; Al Sayegh, Abeer; Caliebe, Almuth; Turner, Claire; Baple, Emma; Wakeling, Emma; Harrison, Lucy; Lehmann, Anna; Temple, I. Karen; Mackay, Deborah J.G.
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 9(2013:Sep.)
Page Start:
2174
Record Type:
Journal Article
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6. Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders. Issue 9 (2nd August 2013)

Authors:
Poole, Rebecca L.; Docherty, Louise E.; Al Sayegh, Abeer; Caliebe, Almuth; Turner, Claire; Baple, Emma; Wakeling, Emma; Harrison, Lucy; Lehmann, Anna; Temple, I. Karen; Mackay, Deborah J.G.
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 9(2013:Sep.)
Page Start:
2174
Record Type:
Journal Article
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7. The 100 000 Genomes Project: bringing whole genome sequencing to the NHS. (24th April 2018)

Authors:
Turnbull, Clare; Scott, Richard H; Thomas, Ellen; Jones, Louise; Murugaesu, Nirupa; Pretty, Freya Boardman; Halai, Dina; Baple, Emma; Craig, Clare; Hamblin, Angela; Henderson, Shirley; Patch, Christine; O'Neill, Amanda; Devereaux, Andrew; Smith, Katherine; Martin, Antonio Rueda; Sosinsky, Alona; ...
Journal:
BMJ
Issue:
Volume 361(2018)
Page Start:
Record Type:
Journal Article
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8. Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1. Issue 2 (April 2016)

Authors:
Krøigård, Anne B.; Jackson, Andrew P.; Bicknell, Louise S.; Baple, Emma; Brusgaard, Klaus; Hansen, Lars K.; Ousager, Lilian B.
Journal:
Clinical dysmorphology
Issue:
Volume 25:Issue 2(2016:Apr.)
Page Start:
Record Type:
Journal Article
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9. Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach. Issue 12 (28th June 2022)

Authors:
Best, Sunayna; Yu, Jing; Lord, Jenny; Roche, Matthew; Watson, Christopher Mark; Bevers, Roel P J; Stuckey, Alex; Madhusudhan, Savita; Jewell, Rosalyn; Sisodiya, Sanjay M; Lin, Siying; Turner, Stephen; Robinson, Hannah; Leslie, Joseph S; Baple, Emma; Toomes, Carmel; Inglehearn, Chris; Wheway, Gabr...
Other Names:
author non-byline.; Ambrose JC author non-byline.; Arumugam P author non-byline.; Bevers R author non-byline.; Bleda M author non-byline.; Boardman-Pretty F author non-byline.; Boustred C R author non-byline.; Brittain H author non-byline.; Brown MA author non-byline.; Caulfield MJ author non-by...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 12(2022)
Page Start:
1151
Record Type:
Journal Article
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10. 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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