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Author/Creator Roberts, Amy E.

1. Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. Issue 11 (3rd August 2015)

Authors:
Cordeddu, Viviana; Yin, Jiani C.; Gunnarsson, Cecilia; Virtanen, Carl; Drunat, Séverine; Lepri, Francesca; De Luca, Alessandro; Rossi, Cesare; Ciolfi, Andrea; Pugh, Trevor J.; Bruselles, Alessandro; Priest, James R.; Pennacchio, Len A.; Lu, Zhibin; Danesh, Arnavaz; Quevedo, Rene; Hamid, Alaa; Mar...
Journal:
Human mutation
Issue:
Volume 36:Issue 11(2015:Nov.)
Page Start:
1080
Record Type:
Journal Article
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3. De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease. (August 2020)

Authors:
Boskovski, Marko T.; Homsy, Jason; Nathan, Meena; Sleeper, Lynn A.; Morton, Sarah; Manheimer, Kathryn B.; Tai, Angela; Gorham, Joshua; Lewis, Matthew; Swartz, Michael; Alfieris, George M.; Bacha, Emile A.; Karimi, Mohsen; Meyer, David; Nguyen, Khanh; Bernstein, Daniel; Romano-Adesman, Angela; Por...
Journal:
Circulation
Issue:
Volume 13:Number 4(2020)
Page Start:
Record Type:
Journal Article
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4. Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study. (21st February 2023)

Authors:
Griffin, Emily L.; Nees, Shannon N.; Morton, Sarah U.; Wynn, Julia; Patel, Nihir; Jobanputra, Vaidehi; Robinson, Scott; Kochav, Stephanie M.; Tao, Alice; Andrews, Carli; Cross, Nancy; Geva, Judith; Lanzilotta, Kristen; Ritter, Alyssa; Taillie, Eileen; Thompson, Alexandra; Meyer, Chris; Akers, Rac...
Journal:
Circulation
Issue:
Volume 16:Number 2(2023)
Page Start:
e003791
Record Type:
Journal Article
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6. Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3. (October 2017)

Authors:
Guo, Tingwei; Repetto, Gabriela M.; McDonald McGinn, Donna M.; Chung, Jonathan H.; Nomaru, Hiroko; Campbell, Christopher L.; Blonska, Anna; Bassett, Anne S.; Chow, Eva W.C.; Mlynarski, Elisabeth E.; Swillen, Ann; Vermeesch, Joris; Devriendt, Koen; Gothelf, Doron; Carmel, Miri; Michaelovsky, Elena...
Journal:
Circulation
Issue:
Volume 10:Number 5(2017)
Page Start:
Record Type:
Journal Article
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8. Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype. Issue 4 (29th November 2022)

Authors:
Kenney‐Jung, Daniel L.; Rogers, Dante J.; Kroening, Samuel J.; Zatkalik, Abigail L.; Whitmarsh, Ashley E.; Roberts, Amy E.; Zenker, Martin; Gambardella, Maria Luigia; Contaldo, Ilaria; Leoni, Chiara; Onesimo, Roberta; Zampino, Giuseppe; Tartaglia, Marco; Battaglia, Domenica I.; Pierpont, Elizabet...
Other Names:
Leoni Chiara guestEditor.; Neri Giovanni guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 190:Issue 4(2022)
Page Start:
501
Record Type:
Journal Article
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