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Author/Creator Lin, Angela E.

12. Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy. Issue 7 (6th April 2020)

Authors:
Carvill, Gemma L.; Helbig, Katherine L.; Myers, Candace T.; Scala, Marcello; Huether, Robert; Lewis, Sara; Kruer, Tyler N.; Guida, Brandon S.; Bakhtiari, Somayeh; Sebe, Joy; Tang, Sha; Stickney, Heather; Oktay, Sehribani Ulusoy; Bhandiwad, Ashwin A.; Ramsey, Keri; Narayanan, Vinodh; Feyma, Timoth...
Journal:
Human mutation
Issue:
Volume 41:Issue 7(2020)
Page Start:
1263
Record Type:
Journal Article
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13. Deletion of chromosome 8q22.1, a critical region for Nablus mask‐like facial syndrome: Four additional cases support a role of genetic modifiers in the manifestation of the phenotype. (2nd April 2015)

Authors:
Jamuar, Saumya S.; Duzkale, Hatice; Duzkale, Neslihan; Zhang, Chengsheng; High, Frances A.; Kaban, Leonard; Bhattacharya, Soma; Crandall, Barbara; Kantarci, Sibel; Stoler, Joan M.; Lin, Angela E.
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 6(2015:Jun.)
Page Start:
1400
Record Type:
Journal Article
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15. Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance. Issue 11 (6th August 2018)

Authors:
Jones, Kelly L.; McNamara, Erin A.; Longoni, Mauro; Miller, Danny E.; Rohanizadegan, Mersedeh; Newman, Laura A.; Hayes, Frances; Levitsky, Lynne L.; Herrington, Betty L.; Lin, Angela E.
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 11(2018)
Page Start:
2435
Record Type:
Journal Article
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16. Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects. Issue 5 (13th January 2022)

Authors:
Cappuccio, Gerarda; Brunetti‐Pierri, Nicola; Clift, Paul; Learn, Christopher; Dykes, John C.; Mercer, Catherine L.; Callewaert, Bert; Meerschaut, Ilse; Spinelli, Alessandro Mauro; Bruno, Irene; Gillespie, Matthew J.; Dorfman, Aaron T.; Grimberg, Adda; Lindsay, Mark E.; Lin, Angela E.
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 5(2022)
Page Start:
1384
Record Type:
Journal Article
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17. FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation. (7th August 2018)

Authors:
Mul, Karlien; Lemmers, Richard J.L.F.; Kriek, Marjolein; van der Vliet, Patrick J.; van den Boogaard, Marlinde L.; Badrising, Umesh A.; Graham, John M.; Lin, Angela E.; Brand, Harrison; Moore, Steven A.; Johnson, Katherine; Evangelista, Teresinha; Töpf, Ana; Straub, Volker; Kapetanovic García, So...
Journal:
Neurology
Issue:
Volume 91:Number 6(2018)
Page Start:
Record Type:
Journal Article
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18. Further delineation of van den Ende‐Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome. Issue 7 (30th March 2021)

Authors:
Hildebrandt, Clara C.; Patel, Nisha; Graham, John M.; Bamshad, Michael; Nickerson, Deborah A.; White, Janson J.; Marvin, Colby T.; Miller, Danny E.; Grand, Katheryn L.; Sanchez‐Lara, Pedro A.; Schweitzer, Daniela; Al‐Zaidan, Hamad I.; Al Masseri, Zainab; Alkuraya, Fowzan S.; Lin, Angela E.
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 7(2021)
Page Start:
2136
Record Type:
Journal Article
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19. Gain‐of‐function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome. Issue 10 (14th June 2016)

Authors:
Lin, Angela E.; Michot, Caroline; Cormier‐Daire, Valerie; L'Ecuyer, Thomas J.; Matherne, G. Paul; Barnes, Barrett H.; Humberson, Jennifer B.; Edmondson, Andrew C.; Zackai, Elaine; O'Connor, Matthew J.; Kaplan, Julie D.; Ebeid, Makram R.; Krier, Joel; Krieg, Elizabeth; Ghoshhajra, Brian; Lindsay, ...
Other Names:
Hennekam Raoul C.M. guestEditor.; Biesecker Leslie G. guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 10(2016)
Page Start:
2617
Record Type:
Journal Article
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