Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

31 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia.
Moskowitz AM, Belnap N, Siniard AL, Szelinger S, Claasen AM, Richholt RF, De Both M, Corneveaux JJ, Balak C, Piras IS, Russell M, Courtright AL, Rangasamy S, Ramsey K, Craig DW, Narayanan V, Huentelman MJ, Schrauwen I. Moskowitz AM, et al. Among authors: balak c. Cold Spring Harb Mol Case Stud. 2016 Sep;2(5):a000851. doi: 10.1101/mcs.a000851. Cold Spring Harb Mol Case Stud. 2016. PMID: 27626064 Free PMC article.
Novel pathogenic variants and genes for myopathies identified by whole exome sequencing.
Hunter JM, Ahearn ME, Balak CD, Liang WS, Kurdoglu A, Corneveaux JJ, Russell M, Huentelman MJ, Craig DW, Carpten J, Coons SW, DeMello DE, Hall JG, Bernes SM, Baumbach-Reardon L. Hunter JM, et al. Mol Genet Genomic Med. 2015 Jul;3(4):283-301. doi: 10.1002/mgg3.142. Epub 2015 Apr 8. Mol Genet Genomic Med. 2015. PMID: 26247046 Free PMC article.
A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.
Dunn P, Prigatano GP, Szelinger S, Roth J, Siniard AL, Claasen AM, Richholt RF, De Both M, Corneveaux JJ, Moskowitz AM, Balak C, Piras IS, Russell M, Courtright AL, Belnap N, Rangasamy S, Ramsey K, Opitz JM, Craig DW, Narayanan V, Huentelman MJ, Schrauwen I. Dunn P, et al. Among authors: balak c. Am J Med Genet A. 2017 Mar;173(3):611-617. doi: 10.1002/ajmg.a.38069. Epub 2017 Jan 31. Am J Med Genet A. 2017. PMID: 28139025
Total Extracellular Small RNA Profiles from Plasma, Saliva, and Urine of Healthy Subjects.
Yeri A, Courtright A, Reiman R, Carlson E, Beecroft T, Janss A, Siniard A, Richholt R, Balak C, Rozowsky J, Kitchen R, Hutchins E, Winarta J, McCoy R, Anastasi M, Kim S, Huentelman M, Van Keuren-Jensen K. Yeri A, et al. Among authors: balak c. Sci Rep. 2017 Mar 17;7:44061. doi: 10.1038/srep44061. Sci Rep. 2017. PMID: 28303895 Free PMC article.
Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability.
Banuelos E, Ramsey K, Belnap N, Krishnan M, Balak C, Szelinger S, Siniard AL, Russell M, Richholt R, De Both M, Piras I, Naymik M, Claasen AM, Rangasamy S, Huentelman MJ, Craig DW, Campeau PM, Narayanan V, Schrauwen I. Banuelos E, et al. Among authors: balak c. F1000Res. 2017 Apr 24;6:553. doi: 10.12688/f1000research.10588.1. eCollection 2017. F1000Res. 2017. PMID: 28663785 Free PMC article.
Exploring genome-wide DNA methylation patterns in Aicardi syndrome.
Piras IS, Mills G, Llaci L, Naymik M, Ramsey K, Belnap N, Balak CD, Jepsen WM, Szelinger S, Siniard AL, Lewis CR, LaFleur M, Richholt RF, De Both MD, Avela K, Rangasamy S, Craig DW, Narayanan V, Järvelä I, Huentelman MJ, Schrauwen I. Piras IS, et al. Epigenomics. 2017 Nov;9(11):1373-1386. doi: 10.2217/epi-2017-0060. Epub 2017 Oct 2. Epigenomics. 2017. PMID: 28967789
De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.
Fassio A, Esposito A, Kato M, Saitsu H, Mei D, Marini C, Conti V, Nakashima M, Okamoto N, Olmez Turker A, Albuz B, Semerci Gündüz CN, Yanagihara K, Belmonte E, Maragliano L, Ramsey K, Balak C, Siniard A, Narayanan V; C4RCD Research Group; Ohba C, Shiina M, Ogata K, Matsumoto N, Benfenati F, Guerrini R. Fassio A, et al. Among authors: balak c. Brain. 2018 Jun 1;141(6):1703-1718. doi: 10.1093/brain/awy092. Brain. 2018. PMID: 29668857 Free PMC article.
Associations of MAP2K3 Gene Variants With Superior Memory in SuperAgers.
Huentelman MJ, Piras IS, Siniard AL, De Both MD, Richholt RF, Balak CD, Jamshidi P, Bigio EH, Weintraub S, Loyer ET, Mesulam MM, Geula C, Rogalski EJ. Huentelman MJ, et al. Among authors: balak cd. Front Aging Neurosci. 2018 May 29;10:155. doi: 10.3389/fnagi.2018.00155. eCollection 2018. Front Aging Neurosci. 2018. PMID: 29896098 Free PMC article.
Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results.
Gerald B, Ramsey K, Belnap N, Szelinger S, Siniard AL, Balak C, Russell M, Richholt R, De Both M, Claasen AM, Schrauwen I, Huentelman MJ, Craig DW, Rangasamy S, Narayanan V. Gerald B, et al. Among authors: balak c. Semin Pediatr Neurol. 2018 Jul;26:28-32. doi: 10.1016/j.spen.2017.08.008. Epub 2017 Aug 16. Semin Pediatr Neurol. 2018. PMID: 29961512
De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy.
Wojcik MH, Okada K, Prabhu SP, Nowakowski DW, Ramsey K, Balak C, Rangasamy S, Brownstein CA, Schmitz-Abe K, Cohen JS, Fatemi A, Shi J, Grant EP, Narayanan V, Ho HH, Agrawal PB. Wojcik MH, et al. Among authors: balak c. Am J Med Genet A. 2018 Dec;176(12):2623-2629. doi: 10.1002/ajmg.a.40493. Epub 2018 Aug 27. Am J Med Genet A. 2018. PMID: 30151950 Free PMC article.
31 results