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Author/Creator Balak, Chris

1. A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41‐q42 deletion phenotype. Issue 7 (16th July 2018)

Authors:
Balak, Chris; Belnap, Newell; Ramsey, Keri; Joss, Shelagh; Devriendt, Koen; Naymik, Marcus; Jepsen, Wayne; Siniard, Ashley L.; Szelinger, Szabolcs; Parker, Mary E.; Richholt, Ryan; Izatt, Tyler; LaFleur, Madison; Terraf, Panieh; Llaci, Lorida; De Both, Matt; Piras, Ignazio S.; Rangasamy, Sampathk...
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 7(2018)
Page Start:
1549
Record Type:
Journal Article
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2. A recurrent de novo missense mutation in UBTF causes developmental neuroregression. (13th February 2018)

Authors:
Toro, Camilo; Hori, Roderick T; Malicdan, May Christine V; Tifft, Cynthia J; Goldstein, Amy; Gahl, William A; Adams, David R; Fauni, Harper B; Wolfe, Lynne A; Xiao, Jianfeng; Khan, Mohammad M; Tian, Jun; Hope, Kevin A; Reiter, Lawrence T; Tremblay, Michel G; Moss, Tom; Franks, Alexis L; Balak, Ch...
Journal:
Human molecular genetics
Issue:
Volume 27:Number 7(2018:Apr. 01)
Page Start:
1310
Record Type:
Journal Article
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3. A recurrent de novo missense mutation in UBTF causes developmental neuroregression. (2nd January 2018)

Authors:
Toro, Camilo; Hori, Roderick T; Malicdan, May Christine V; Tifft, Cynthia J; Goldstein, Amy; Gahl, William A; Adams, David R; Fauni, Harper B; Wolfe, Lynne A; Xiao, Jianfeng; Khan, Mohammad M; Tian, Jun; Hope, Kevin A; Reiter, Lawrence T; Tremblay, Michel G; Moss, Tom; Franks, Alexis L; Balak, Ch...
Journal:
Human molecular genetics
Issue:
Volume 27:Number 4(2018:Feb. 15)
Page Start:
691
Record Type:
Journal Article
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4. A recurrent de novo missense mutation in UBTF causes developmental neuroregression. (2nd January 2018)

Authors:
Toro, Camilo; Hori, Roderick T; Malicdan, May Christine V; Tifft, Cynthia J; Goldstein, Amy; Gahl, William A; Adams, David R; Harper, Fauni; Wolfe, Lynne A; Xiao, Jianfeng; Khan, Mohammad M; Tian, Jun; Hope, Kevin A; Reiter, Lawrence T; Tremblay, Michel G; Moss, Tom; Franks, Alexis L; Balak, Chri...
Journal:
Human molecular genetics
Issue:
Volume 27:Number 4(2018:Feb. 15)
Page Start:
691
Record Type:
Journal Article
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5. Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1. (August 2020)

Authors:
Szelinger, Szabolcs; Krate, Jonida; Ramsey, Keri; Strom, Samuel P.; Shieh, Perry B.; Lee, Hane; Belnap, Newell; Balak, Chris; Siniard, Ashley L.; Russell, Megan; Richholt, Ryan; Both, Matt De; Claasen, Ana M.; Schrauwen, Isabelle; Nelson, Stanley F.; Huentelman, Matthew J.; Craig, David W.; Yang,...
Journal:
Neurology
Issue:
Volume 6:Number 4(2020)
Page Start:
Record Type:
Journal Article
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6. De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy. Issue 12 (27th August 2018)

Authors:
Wojcik, Monica H.; Okada, Kyoko; Prabhu, Sanjay P.; Nowakowski, Dan W.; Ramsey, Keri; Balak, Chris; Rangasamy, Sampath; Brownstein, Catherine A.; Schmitz‐Abe, Klaus; Cohen, Julie S.; Fatemi, Ali; Shi, Jiahai; Grant, Ellen P.; Narayanan, Vinodh; Ho, Hsin‐Yi Henry; Agrawal, Pankaj B.
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 12(2018)
Page Start:
2623
Record Type:
Journal Article
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7. Expanding allelic and phenotypic spectrum of ZC4H2‐related disorder: A novel hypomorphic variant and high prevalence of tethered cord. Issue 2 (31st October 2022)

Authors:
Wongkittichote, Parith; Choi, Tae‐Ik; Kim, Oc‐Hee; Riley, Kacie; Koeberl, Dwight; Narayanan, Vinodh; Ramsey, Keri; Balak, Chris; Schwartz, Charles E.; Cueto‐Gonzalez, Anna Maria; Casadesus, Francina Munell; Kim, Cheol‐Hee; Shinawi, Marwan S.
Journal:
Clinical genetics
Issue:
Volume 103:Issue 2(2023)
Page Start:
167
Record Type:
Journal Article
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8. Two additional males with X‐linked, syndromic mental retardation carry de novo mutations in HNRNPH2. Issue 2 (24th June 2019)

Authors:
Jepsen, Wayne M.; Ramsey, Keri; Szelinger, Szabolcs; Llaci, Lorida; Balak, Chris; Belnap, Newell; Bilagody, Cherae; De Both, Matthew; Gupta, Raj; Naymik, Marcus; Pandey, Richa; Piras, Ignazio S.; Sanchez‐Castillo, Meredith; Rangasamy, Sampathkumar; Narayanan, Vinodh; Huentelman, Matthew J.
Journal:
Clinical genetics
Issue:
Volume 96:Issue 2(2019)
Page Start:
183
Record Type:
Journal Article
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