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Author/Creator Dreyer, Lauren

2. 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) ↗

3. 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) ↗

4. Silver Russel syndrome in an aboriginal patient from Australia. Issue 12 (27th August 2018)

Authors:
Poulton, Cathryn; Azmanov, Dimitar; Atkinson, Vanessa; Beilby, John; Ewans, Lisa; Gration, Dylan; Dreyer, Lauren; Shetty, Vinutha; Peake, Ciara; McCormack, Emma; Palmer, Richard; Lewis, Barry; Dawkins, Hugh; Broley, Stephanie; Baynam, Gareth
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 12(2018)
Page Start:
2561
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗