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Author/Creator Wakeling, Emma

21. Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity. Issue 2 (25th November 2019)

Authors:
Cheng, Hanyin; Capponi, Simona; Wakeling, Emma; Marchi, Elaine; Li, Quan; Zhao, Mengge; Weng, Chunhua; Stefan, Piatek G.; Ahlfors, Helena; Kleyner, Robert; Rope, Alan; Lumaka, Aimé; Lukusa, Prosper; Devriendt, Koenraad; Vermeesch, Joris; Posey, Jennifer E.; Palmer, Elizabeth E.; Murray, Lucinda; ...
Other Names:
investigator.
Journal:
Human mutation
Issue:
Volume 41:Issue 2(2020)
Page Start:
449
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

22. Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity. Issue 2 (25th November 2019)

Authors:
Cheng, Hanyin; Capponi, Simona; Wakeling, Emma; Marchi, Elaine; Li, Quan; Zhao, Mengge; Weng, Chunhua; Piatek, Stefan G.; Ahlfors, Helena; Kleyner, Robert; Rope, Alan; Lumaka, Aimé; Lukusa, Prosper; Devriendt, Koenraad; Vermeesch, Joris; Posey, Jennifer E.; Palmer, Elizabeth E.; Murray, Lucinda; ...
Other Names:
investigator.
Journal:
Human mutation
Issue:
Volume 41:Issue 2(2020)
Page Start:
449
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

24. Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model. Issue 3 (20th July 2021)

Authors:
Jurkute, Neringa; Bertacchi, Michele; Arno, Gavin; Tocco, Chiara; Kim, Ungsoo Samuel; Kruszewski, Adam M; Avery, Robert A; Bedoukian, Emma C; Han, Jinu; Ahn, Sung Jun; Pontikos, Nikolas; Acheson, James; Davagnanam, Indran; Bowman, Richard; Kaliakatsos, Marios; Gardham, Alice; Wakeling, Emma; Oluo...
Journal:
Brain communications
Issue:
Volume 3:Issue 3(2021)
Page Start:
Record Type:
Journal Article
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25. Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension. Issue 21 (21st November 2017)

Authors:
Hadinnapola, Charaka; Bleda, Marta; Haimel, Matthias; Screaton, Nicholas; Swift, Andrew; Dorfmüller, Peter; Preston, Stephen D.; Southwood, Mark; Hernandez-Sanchez, Jules; Martin, Jennifer; Treacy, Carmen; Yates, Katherine; Bogaard, Harm; Church, Colin; Coghlan, Gerry; Condliffe, Robin; Corris, P...
Journal:
Circulation
Issue:
Volume 136:Issue 21(2017)
Page Start:
Record Type:
Journal Article
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28. 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
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

29. 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
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗