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Author/Creator Bennett, James T.

2. A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. Issue 9 (5th June 2016)

Authors:
Gripp, Karen W.; Aldinger, Kimberly A.; Bennett, James T.; Baker, Laura; Tusi, Jessica; Powell‐Hamilton, Nina; Stabley, Deborah; Sol‐Church, Katia; Timms, Andrew E.; Dobyns, William B.
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 9(2016)
Page Start:
2237
Record Type:
Journal Article
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3. Acetylsalicylic acid suppression of the PI3K pathway as a novel medical therapy for head and neck lymphatic malformations. (December 2021)

Authors:
Bonilla-Velez, Juliana; Whitlock, Kathryn B.; Ganti, Sheila; Zenner, Kaitlyn; Cheng, Chi Vicky; Jensen, Dana M.; Pham, Minh-Hang M.; Mitchell, Ryan M.; Dobyns, William; Bly, Randall A.; Bennett, James T.; Dahl, John P.; Perkins, Jonathan A.
Journal:
International journal of pediatric otorhinolaryngology
Issue:
Volume 151(2021)
Page Start:
Record Type:
Journal Article
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4. Characterization of a severe case of PIK3CA‐related overgrowth at autopsy by droplet digital polymerase chain reaction and report of PIK3CA sequencing in 22 patients. Issue 11 (31st July 2018)

Authors:
Piacitelli, Andrew M.; Jensen, Dana M.; Brandling‐Bennett, Heather; Gray, Megan Mariner; Batra, Maneesh; Gust, Juliane; Thaker, Ameet; Paschal, Catherine; Tsuchiya, Karen; Pritchard, Colin C.; Perkins, Jonathan; Mirzaa, Ghayda M.; Bennett, James T.
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 11(2018)
Page Start:
2301
Record Type:
Journal Article
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5. CHRNB1‐associated congenital myasthenia syndrome: Expanding the clinical spectrum. Issue 3 (9th December 2020)

Authors:
Freed, Amanda S.; Schwarz, Anisha C.; Brei, Brianna K.; Clowes Candadai, Sarah V.; Thies, Jenny; Mah, Jean K.; Chabra, Shilpi; Wang, Leo; Innes, A. Micheil; Bennett, James T.
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 3(2021)
Page Start:
827
Record Type:
Journal Article
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6. Clinical and genetic characterization of AP4B1‐associated SPG47. Issue 2 (28th November 2017)

Authors:
Ebrahimi‐Fakhari, Darius; Cheng, Chi; Dies, Kira; Diplock, Amelia; Pier, Danielle B.; Ryan, Conor S.; Lanpher, Brendan C.; Hirst, Jennifer; Chung, Wendy K.; Sahin, Mustafa; Rosser, Elisabeth; Darras, Basil; Bennett, James T.
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 2(2018)
Page Start:
311
Record Type:
Journal Article
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7. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1. Issue 1 (26th October 2019)

Authors:
Koczkowska, Magdalena; Callens, Tom; Chen, Yunjia; Gomes, Alicia; Hicks, Alesha D.; Sharp, Angela; Johns, Eric; Uhas, Kim Armfield; Armstrong, Linlea; Bosanko, Katherine Armstrong; Babovic‐Vuksanovic, Dusica; Baker, Laura; Basel, Donald G.; Bengala, Mario; Bennett, James T.; Chambers, Chelsea; Cl...
Journal:
Human mutation
Issue:
Volume 41:Issue 1(2020)
Page Start:
299
Record Type:
Journal Article
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10. Immune dysfunction in MGAT2‐CDG: A clinical report and review of the literature. Issue 1 (12th October 2020)

Authors:
Poskanzer, Sheri A.; Schultz, Matthew J.; Turgeon, Coleman T.; Vidal‐Folch, Noemi; Liedtke, Kris; Oglesbee, Devin; Gavrilov, Dimitar K.; Tortorelli, Silvia; Matern, Dietrich; Rinaldo, Piero; Bennett, James T.; Thies, Jenny M.; Chang, Irene J.; Beck, Anita E.; Raymond, Kimiyo; Allenspach, Eric J.;...
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 1(2021)
Page Start:
213
Record Type:
Journal Article
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