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Author/Creator Revil, Timothée

3. Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS. Issue 2 (11th December 2012)

Authors:
McDonald-McGinn, Donna M; Fahiminiya, Somayyeh; Revil, Timothée; Nowakowska, Beata A; Suhl, Joshua; Bailey, Alice; Mlynarski, Elisabeth; Lynch, David R; Yan, Albert C; Bilaniuk, Larissa T; Sullivan, Kathleen E; Warren, Stephen T; Emanuel, Beverly S; Vermeesch, Joris R; Zackai, Elaine H; Jerome-Ma...
Journal:
Journal of medical genetics
Issue:
Volume 50:Issue 2(2013)
Page Start:
80
Record Type:
Journal Article
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4. High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome. Issue 1 (16th October 2015)

Authors:
de Kock, Leanne; Wang, Yu Chang; Revil, Timothée; Badescu, Dunarel; Rivera, Barbara; Sabbaghian, Nelly; Wu, Mona; Weber, Evan; Sandoval, Claudio; Hopman, Saskia M J; Merks, Johannes H M; van Hagen, Johanna M; Bouts, Antonia H M; Plager, David A; Ramasubramanian, Aparna; Forsmark, Linus; Doyle, Kr...
Journal:
Journal of medical genetics
Issue:
Volume 53:Issue 1(2016)
Page Start:
43
Record Type:
Journal Article
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5. The empress of subterfuge: cancer of the fallopian tube presenting with malapropism. Issue 10098 (2nd September 2017)

Authors:
Gilbert, Lucy; Revil, Timothée; Meunier, Charles; Jardon, Kris; Zeng, Xing; Martins, Claudia; Arseneau, Jocelyne; Fu, Lili; North, Krystle; Schiavi, Alicia; Ehrensperger, Eric; Artho, Giovanni; Lee, Todd; Morris, David; Ragoussis, Jiannis
Journal:
Lancet
Issue:
Volume 390:Issue 10098(2017)
Page Start:
1003
Record Type:
Journal Article
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6. Whole‐exome sequencing of non‐BRCA1/BRCA2 mutation carrier cases at high‐risk for hereditary breast/ovarian cancer. Issue 3 (28th December 2020)

Authors:
Felicio, Paula S.; Grasel, Rebeca S.; Campacci, Natalia; de Paula, Andre E.; Galvão, Henrique C. R.; Torrezan, Giovana T.; Sabato, Cristina S.; Fernandes, Gabriela C.; Souza, Cristiano P.; Michelli, Rodrigo D.; Andrade, Carlos E.; Barros, Bruna Durães De Figueiredo; Matsushita, Marcus M.; Revil, ...
Journal:
Human mutation
Issue:
Volume 42:Issue 3(2021)
Page Start:
290
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗