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The inactive X chromosome drives sex differences in microglial inflammatory activity in human glioblastoma. bioRxiv. 2025 May 19.
Tharp ME, Han CZ, Talukdar M, Balak CD, Fitzpatrick C, Connor CO, Preissl S, Buchanan J, Nott A, Escoubet L, Mavrommatis K, Gupta M, Schwartz MS, U HS, Jones PS, Levy ML, Gonda DD, Ben-Haim S, Ciacci J, Barba D, Khalessi A, Coufal NG, Chen CC, Glass CK, Page DC. PMID: 38895459; PMCID: PMC11185629.
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Mechanisms driving epigenetic and transcriptional responses of microglia in a neurodegenerative lysosomal storage disorder model. bioRxiv. 2024 Nov 14.
Balak CD, Schlachetzki JCM, Lana AJ, West E, Hong C, DuGal J, Zhou Y, Li B, Saisan P, Spann NJ, Sarsani V, Pasillas MP, O'Brien S, Gordts P, Stevens B, Kamme F, Glass CK. PMID: 39605454; PMCID: PMC11601307.
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FGF12 copy number variant associated with epileptic encephalopathy. Clin Genet. 2024 Jul; 106(1):114-115.
Abraham A, Ramsey K, Belnap N, Szelinger S, Jepsen W, Balak C, Sanchez-Castillo M, Naymik M, Bonfitto A, Rangasamy S, Kruglyak S, Huentelman M, Narayanan V. PMID: 38715525.
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Deciphering microglia phenotypes in health and disease. Curr Opin Genet Dev. 2024 02; 84:102146.
Balak CD, Han CZ, Glass CK. PMID: 38171044; PMCID: PMC12118495.
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SALL1 enforces microglia-specific DNA binding and function of SMADs to establish microglia identity. Nat Immunol. 2023 07; 24(7):1188-1199.
Fixsen BR, Han CZ, Zhou Y, Spann NJ, Saisan P, Shen Z, Balak C, Sakai M, Cobo I, Holtman IR, Warden AS, Ramirez G, Collier JG, Pasillas MP, Yu M, Hu R, Li B, Belhocine S, Gosselin D, Coufal NG, Ren B, Glass CK. PMID: 37322178; PMCID: PMC10307637.
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32 Fields:
Translation:
AnimalsCells
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Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders. Cells. 2023 05 21; 12(10).
Frankel E, Podder A, Sharifi M, Pillai R, Belnap N, Ramsey K, Dodson J, Venugopal P, Brzezinski M, Llaci L, Gerald B, Mills G, Sanchez-Castillo M, Balak CD, Szelinger S, Jepsen WM, Siniard AL, Richholt R, Naymik M, Schrauwen I, Craig DW, Piras IS, Huentelman MJ, Schork NJ, Narayanan V, Rangasamy S. PMID: 37408271; PMCID: PMC10217403.
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2 Fields:
Translation:
Humans
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Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: A novel hypomorphic variant and high prevalence of tethered cord. Clin Genet. 2023 02; 103(2):167-178.
Wongkittichote P, Choi TI, Kim OH, Riley K, Koeberl D, Narayanan V, Ramsey K, Balak C, Schwartz CE, Cueto-Gonzalez AM, Casadesus FM, Kim CH, Shinawi MS. PMID: 36250278.
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An Integrated Phenotypic and Genotypic Approach Reveals a High-Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain. Ann Neurol. 2022 07; 92(1):138-153.
Deisseroth CA, Lerma VC, Magyar CL, Pfliger JM, Nayak A, Bliss ND, LeMaire AW, Narayanan V, Balak C, Zanni G, Valente EM, Bertini E, Benke PJ, Wangler MF, Chao HT. PMID: 35340043.
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Extracellular circular RNA profiles in plasma and urine of healthy, male college athletes. Sci Data. 2021 10 28; 8(1):276.
Hutchins E, Reiman R, Winarta J, Beecroft T, Richholt R, De Both M, Shahbander K, Carlson E, Janss A, Siniard A, Balak C, Bruhns R, Whitsett TG, McCoy R, Anastasi M, Allen A, Churas B, Huentelman M, Van Keuren-Jensen K. PMID: 34711851; PMCID: PMC8553830.
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Progressive bilateral nuclear cataracts associated with cerebellar-facial-dental syndrome: case report, literature review, and identification of a new genetic variant. J AAPOS. 2021 12; 25(6):370-373.
Pandey B, Belnap N, Balak C, Huentelman M, Ramsey K, Narayanan V, Plotnik J. PMID: 34628026.
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FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability. Epilepsia. 2021 01; 62(1):e13-e21.
Schneider AL, Myers CT, Muir AM, Calvert S, Basinger A, Perry MS, Rodan L, Helbig KL, Chambers C, Gorman KM, King MD, Donkervoort S, Soldatos A, Bönnemann CG, Spataro N, Gabau E, Arellano M, Cappuccio G, Brunetti-Pierri N, Rossignol E, Hamdan FF, Michaud JL, Balak C, Mefford HC, Scheffer IE. PMID: 33280099.
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Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1. Neurol Genet. 2020 Aug; 6(4):e468.
Szelinger S, Krate J, Ramsey K, Strom SP, Shieh PB, Lee H, Belnap N, Balak C, Siniard AL, Russell M, Richholt R, Both M, Claasen AM, Schrauwen I, Nelson SF, Huentelman MJ, Craig DW, Yang SP, Moore SA, Sivakumar K, Narayanan V, Rangasamy S, UCLA Clinical Genomics Center. PMID: 32754643; PMCID: PMC7357421.
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7
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Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD). Hum Genet. 2019 Dec; 138(11-12):1409-1417.
Llaci L, Ramsey K, Belnap N, Claasen AM, Balak CD, Szelinger S, Jepsen WM, Siniard AL, Richholt R, Izat T, Naymik M, De Both M, Piras IS, Craig DW, Huentelman MJ, Narayanan V, Schrauwen I, Rangasamy S. PMID: 31748968.
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PubMed Mentions:
11 Fields:
Translation:
Humans
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Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation. Am J Hum Genet. 2019 09 05; 105(3):509-525.
Balak C, Benard M, Schaefer E, Iqbal S, Ramsey K, Ernoult-Lange M, Mattioli F, Llaci L, Geoffroy V, Courel M, Naymik M, Bachman KK, Pfundt R, Rump P, Ter Beest J, Wentzensen IM, Monaghan KG, McWalter K, Richholt R, Le Béchec A, Jepsen W, De Both M, Belnap N, Boland A, Piras IS, Deleuze JF, Szelinger S, Dollfus H, Chelly J, Muller J, Campbell A, Lal D, Rangasamy S, Mandel JL, Narayanan V, Huentelman M, Weil D, Piton A. PMID: 31422817; PMCID: PMC6731366.
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Two additional males with X-linked, syndromic mental retardation carry de novo mutations in HNRNPH2. Clin Genet. 2019 08; 96(2):183-185.
Jepsen WM, Ramsey K, Szelinger S, Llaci L, Balak C, Belnap N, Bilagody C, De Both M, Gupta R, Naymik M, Pandey R, Piras IS, Sanchez-Castillo M, Rangasamy S, Narayanan V, Huentelman MJ. PMID: 31236915; PMCID: PMC6852257.
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De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy. Am J Med Genet A. 2018 12; 176(12):2623-2629.
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. PMID: 30151950; PMCID: PMC6481602.
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PubMed Mentions:
10 Fields:
Translation:
HumansAnimalsCells
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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. Am J Med Genet A. 2018 07; 176(7):1549-1558.
Balak C, Belnap N, Ramsey K, Joss S, Devriendt K, Naymik M, Jepsen W, Siniard AL, Szelinger S, Parker ME, Richholt R, Izatt T, LaFleur M, Terraf P, Llaci L, De Both M, Piras IS, Rangasamy S, Schrauwen I, Craig DW, Huentelman M, Narayanan V. PMID: 30160831.
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5 Fields:
Translation:
HumansCells
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De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy. Brain. 2018 06 01; 141(6):1703-1718.
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. PMID: 29668857; PMCID: PMC5972584.
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Associations of MAP2K3 Gene Variants With Superior Memory in SuperAgers. Front Aging Neurosci. 2018; 10:155.
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. PMID: 29896098; PMCID: PMC5987172.
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A recurrent de novo missense mutation in UBTF causes developmental neuroregression. Hum Mol Genet. 2018 04 01; 27(7):1310.
Toro C, Hori RT, Malicdan MCV, Tifft CJ, Goldstein A, Gahl WA, Adams DR, Fauni HB, Wolfe LA, Xiao J, Khan MM, Tian J, Hope KA, Reiter LT, Tremblay MG, Moss T, Franks AL, Balak C, C4RCD Research Group, LeDoux MS. PMID: 29447355; PMCID: PMC6093340.
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A recurrent de novo missense mutation in UBTF causes developmental neuroregression. Hum Mol Genet. 2018 02 15; 27(4):691-705.
Toro C, Hori RT, Malicdan MCV, Tifft CJ, Goldstein A, Gahl WA, Adams DR, Fauni HB, Wolfe LA, Xiao J, Khan MM, Tian J, Hope KA, Reiter LT, Tremblay MG, Moss T, Franks AL, Balak C, C4RCD Research Group, LeDoux MS. PMID: 29300972; PMCID: PMC5886272.
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Exploring genome-wide DNA methylation patterns in Aicardi syndrome. Epigenomics. 2017 11; 9(11):1373-1386.
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. PMID: 28967789.
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PubMed Mentions:
4 Fields:
Translation:
HumansCells
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Functional characterizations of rare UBA1 variants in X-linked Spinal Muscular Atrophy. F1000Res. 2017; 6:1636.
Balak CD, Hunter JM, Ahearn ME, Wiley D, D'urso G, Baumbach-Reardon L. PMID: 29034082; PMCID: PMC5615770.
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Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results. Semin Pediatr Neurol. 2018 07; 26:28-32.
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. PMID: 29961512.
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PubMed Mentions:
7 Fields:
Translation:
Humans
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Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability. F1000Res. 2017; 6:553.
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. PMID: 28663785; PMCID: PMC5473401.
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14 Fields:
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Total Extracellular Small RNA Profiles from Plasma, Saliva, and Urine of Healthy Subjects. Sci Rep. 2017 03 17; 7:44061.
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. PMID: 28303895; PMCID: PMC5356006.
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A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia. Cold Spring Harb Mol Case Stud. 2016 Sep; 2(5):a000851.
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. PMID: 27626064; PMCID: PMC5002929.
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17 Fields:
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Novel pathogenic variants and genes for myopathies identified by whole exome sequencing. Mol Genet Genomic Med. 2015 Jul; 3(4):283-301.
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. PMID: 26247046; PMCID: PMC4521965.
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22 Fields:
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Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification. Am J Med Genet A. 2015 May; 167A(5):931-73.
Hunter JM, Kiefer J, Balak CD, Jooma S, Ahearn ME, Hall JG, Baumbach-Reardon L. PMID: 25790323.
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