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Items: 14

1.

Clinical validity assessment of genes for inclusion in multi-gene panel testing: A systematic approach.

Zion TN, Wayburn B, Darabi S, Lamb Thrush D, Smith ED, Johnston T, Martin B, Hagman KDF, Parra M, Antolik C.

Mol Genet Genomic Med. 2019 May;7(5):e630. doi: 10.1002/mgg3.630. Epub 2019 Mar 21.

2.

Next Generation Sequencing of Prenatal Structural Chromosomal Rearrangements Using Large-Insert Libraries.

Currall BB, Antolik CW, Collins RL, Talkowski ME.

Methods Mol Biol. 2019;1885:251-265. doi: 10.1007/978-1-4939-8889-1_17.

PMID:
30506203
3.

MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants.

Wallace SE, Regalado ES, Gong L, Janda AL, Guo DC, Russo CF, Kulmacz RJ, Hanna N, Jondeau G, Boileau C, Arnaud P, Lee K, Leal SM, Hannuksela M, Carlberg B, Johnston T, Antolik C, Hostetler EM, Colombo R, Milewicz DM.

Genet Med. 2019 Jan;21(1):144-151. doi: 10.1038/s41436-018-0038-0. Epub 2018 Jun 20.

4.

Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly.

Aneichyk T, Hendriks WT, Yadav R, Shin D, Gao D, Vaine CA, Collins RL, Domingo A, Currall B, Stortchevoi A, Multhaupt-Buell T, Penney EB, Cruz L, Dhakal J, Brand H, Hanscom C, Antolik C, Dy M, Ragavendran A, Underwood J, Cantsilieris S, Munson KM, Eichler EE, Acuña P, Go C, Jamora RDG, Rosales RL, Church DM, Williams SR, Garcia S, Klein C, Müller U, Wilhelmsen KC, Timmers HTM, Sapir Y, Wainger BJ, Henderson D, Ito N, Weisenfeld N, Jaffe D, Sharma N, Breakefield XO, Ozelius LJ, Bragg DC, Talkowski ME.

Cell. 2018 Feb 22;172(5):897-909.e21. doi: 10.1016/j.cell.2018.02.011.

5.

IGFBPL1 Regulates Axon Growth through IGF-1-mediated Signaling Cascades.

Guo C, Cho KS, Li Y, Tchedre K, Antolik C, Ma J, Chew J, Utheim TP, Huang XA, Yu H, Malik MTA, Anzak N, Chen DF.

Sci Rep. 2018 Feb 1;8(1):2054. doi: 10.1038/s41598-018-20463-5.

6.

Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W.

Gao J, D'Souza L, Wetherby K, Antolik C, Reeves M, Adams DR, Tumminia S, Wang X.

Cell Biosci. 2017 Apr 26;7:22. doi: 10.1186/s13578-017-0149-3. eCollection 2017.

7.

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.

Collins RL, Brand H, Redin CE, Hanscom C, Antolik C, Stone MR, Glessner JT, Mason T, Pregno G, Dorrani N, Mandrile G, Giachino D, Perrin D, Walsh C, Cipicchio M, Costello M, Stortchevoi A, An JY, Currall BB, Seabra CM, Ragavendran A, Margolin L, Martinez-Agosto JA, Lucente D, Levy B, Sanders SJ, Wapner RJ, Quintero-Rivera F, Kloosterman W, Talkowski ME.

Genome Biol. 2017 Mar 6;18(1):36. doi: 10.1186/s13059-017-1158-6.

8.

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, An Y, Anderson MA, Antolik C, Anyane-Yeboa K, Atkin JF, Bartell T, Bernstein JA, Beyer E, Blumenthal I, Bongers EM, Brilstra EH, Brown CW, Brüggenwirth HT, Callewaert B, Chiang C, Corning K, Cox H, Cuppen E, Currall BB, Cushing T, David D, Deardorff MA, Dheedene A, D'Hooghe M, de Vries BB, Earl DL, Ferguson HL, Fisher H, FitzPatrick DR, Gerrol P, Giachino D, Glessner JT, Gliem T, Grady M, Graham BH, Griffis C, Gripp KW, Gropman AL, Hanson-Kahn A, Harris DJ, Hayden MA, Hill R, Hochstenbach R, Hoffman JD, Hopkin RJ, Hubshman MW, Innes AM, Irons M, Irving M, Jacobsen JC, Janssens S, Jewett T, Johnson JP, Jongmans MC, Kahler SG, Koolen DA, Korzelius J, Kroisel PM, Lacassie Y, Lawless W, Lemyre E, Leppig K, Levin AV, Li H, Li H, Liao EC, Lim C, Lose EJ, Lucente D, Macera MJ, Manavalan P, Mandrile G, Marcelis CL, Margolin L, Mason T, Masser-Frye D, McClellan MW, Mendoza CJ, Menten B, Middelkamp S, Mikami LR, Moe E, Mohammed S, Mononen T, Mortenson ME, Moya G, Nieuwint AW, Ordulu Z, Parkash S, Pauker SP, Pereira S, Perrin D, Phelan K, Aguilar RE, Poddighe PJ, Pregno G, Raskin S, Reis L, Rhead W, Rita D, Renkens I, Roelens F, Ruliera J, Rump P, Schilit SL, Shaheen R, Sparkes R, Spiegel E, Stevens B, Stone MR, Tagoe J, Thakuria JV, van Bon BW, van de Kamp J, van Der Burgt I, van Essen T, van Ravenswaaij-Arts CM, van Roosmalen MJ, Vergult S, Volker-Touw CM, Warburton DP, Waterman MJ, Wiley S, Wilson A, Yerena-de Vega MC, Zori RT, Levy B, Brunner HG, de Leeuw N, Kloosterman WP, Thorland EC, Morton CC, Gusella JF, Talkowski ME.

Nat Genet. 2017 Jan;49(1):36-45. doi: 10.1038/ng.3720. Epub 2016 Nov 14.

9.

Early somatic mosaicism is a rare cause of long-QT syndrome.

Priest JR, Gawad C, Kahlig KM, Yu JK, O'Hara T, Boyle PM, Rajamani S, Clark MJ, Garcia ST, Ceresnak S, Harris J, Boyle S, Dewey FE, Malloy-Walton L, Dunn K, Grove M, Perez MV, Neff NF, Chen R, Maeda K, Dubin A, Belardinelli L, West J, Antolik C, Macaya D, Quertermous T, Trayanova NA, Quake SR, Ashley EA.

Proc Natl Acad Sci U S A. 2016 Oct 11;113(41):11555-11560. Epub 2016 Sep 28.

10.

Characterization of novel RS1 exonic deletions in juvenile X-linked retinoschisis.

D'Souza L, Cukras C, Antolik C, Craig C, Lee JY, He H, Li S, Smaoui N, Hejtmancik JF, Sieving PA, Wang X.

Mol Vis. 2013 Nov 7;19:2209-16. eCollection 2013.

11.

The actin binding domain of ACF7 binds directly to the tetratricopeptide repeat domains of rapsyn.

Antolik C, Catino DH, O'Neill AM, Resneck WG, Ursitti JA, Bloch RJ.

Neuroscience. 2007 Mar 2;145(1):56-65. Epub 2007 Jan 10.

12.

The tetratricopeptide repeat domains of rapsyn bind directly to cytoplasmic sequences of the muscle-specific kinase.

Antolik C, Catino DH, Resneck WG, Bloch RJ.

Neuroscience. 2006 Aug 11;141(1):87-100. Epub 2006 May 3.

PMID:
16675143
13.

Biolistic transfection of cultured myotubes.

Antolik C, De Deyne PG, Bloch RJ.

Sci STKE. 2003 Jul 22;2003(192):PL11.

PMID:
12881614
14.

Intracellular trafficking of hnRNP A2 in oligodendrocytes.

Brumwell C, Antolik C, Carson JH, Barbarese E.

Exp Cell Res. 2002 Oct 1;279(2):310-20.

PMID:
12243756

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