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A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.
Cold Spring Harb Mol Case Stud. 2019 Apr 1;5(2):a003756. doi: 10.1101/mcs.a003756. Print 2019 Apr.
Cold Spring Harb Mol Case Stud. 2019.
PMID: 30755392
Free PMC article.
Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.
Ji J, Quindipan C, Parham D, Shen L, Ruble D, Bootwalla M, Maglinte DT, Gai X, Saitta SC, Biegel JA, Mascarenhas L.
Ji J, et al. Among authors: quindipan c.
Am J Med Genet A. 2017 May;173(5):1390-1395. doi: 10.1002/ajmg.a.38184. Epub 2017 Mar 28.
Am J Med Genet A. 2017.
PMID: 28371217
Free PMC article.
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Custom Pediatric Oncology Next-Generation Sequencing Panel Identifies Somatic Mosaicism in Archival Tissue and Enhances Targeted Clinical Care.
Quindipan C, Cotter JA, Ji J, Mitchell WG, Moke DJ, Navid F, Thomas SM, VanHirtum-Das M, Wang L, Saitta SC, Biegel JA, Hiemenz MC.
Quindipan C, et al.
Pediatr Neurol. 2021 Jan;114:55-59. doi: 10.1016/j.pediatrneurol.2020.09.015. Epub 2020 Oct 2.
Pediatr Neurol. 2021.
PMID: 33221597
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ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Mattison KA, Tossing G, Mulroe F, Simmons C, Butler KM, Schreiber A, Alsadah A, Neilson DE, Naess K, Wedell A, Wredenberg A, Sorlin A, McCann E, Burghel GJ, Menendez B, Hoganson GE, Botto LD, Filloux FM, Aledo-Serrano Á, Gil-Nagel A, Tatton-Brown K, Verbeek NE, van der Zwaag B, Aleck KA, Fazenbaker AC, Balciuniene J, Dubbs HA, Marsh ED, Garber K, Ek J, Duno M, Hoei-Hansen CE, Deardorff MA, Raca G, Quindipan C, van Hirtum-Das M, Breckpot J, Hammer TB, Møller RS, Whitney A, Douglas AGL, Kharbanda M, Brunetti-Pierri N, Morleo M, Nigro V, May HJ, Tao JX, Argilli E, Sherr EH, Dobyns WB; Genomics England Research Consortium; Baines RA, Warwicker J, Parker JA, Banka S, Campeau PM, Escayg A.
Mattison KA, et al. Among authors: quindipan c.
Brain. 2023 Apr 19;146(4):1357-1372. doi: 10.1093/brain/awac330.
Brain. 2023.
PMID: 36074901
Free PMC article.
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Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.
Allen JP, Garber KB, Perszyk R, Khayat CT, Kell SA, Kaneko M, Quindipan C, Saitta S, Ladda RL, Hewson S, Inbar-Feigenberg M, Prasad C, Prasad AN, Olewiler L, Mu W, Rosenthal LS, Scala M, Striano P, Zara F, McCullock TW, Jauss RT, Lemke JR, MacLean DM, Zhu C, Yuan H, Myers SJ, Traynelis SF.
Allen JP, et al. Among authors: quindipan c.
Hum Mol Genet. 2024 Feb 1;33(4):355-373. doi: 10.1093/hmg/ddad188.
Hum Mol Genet. 2024.
PMID: 37944084
Free PMC article.
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Diagnostic Yield of Epilepsy-Genes Sequencing and Chromosomal Microarray in Pediatric Epilepsy.
Burk KC, Kaneko M, Quindipan C, Vu MH, Cepin MF, Santoro JD, Van Hirtum-Das M, Holder D, Raca G.
Burk KC, et al. Among authors: quindipan c.
Pediatr Neurol. 2024 Jan;150:50-56. doi: 10.1016/j.pediatrneurol.2023.10.014. Epub 2023 Oct 27.
Pediatr Neurol. 2024.
PMID: 37979304
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Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Weerts MJA, Lanko K, Guzmán-Vega FJ, Jackson A, Ramakrishnan R, Cardona-Londoño KJ, Peña-Guerra KA, van Bever Y, van Paassen BW, Kievit A, van Slegtenhorst M, Allen NM, Kehoe CM, Robinson HK, Pang L, Banu SH, Zaman M, Efthymiou S, Houlden H, Järvelä I, Lauronen L, Määttä T, Schrauwen I, Leal SM, Ruivenkamp CAL, Barge-Schaapveld DQCM, Peeters-Scholte CMPCD, Galehdari H, Mazaheri N, Sisodiya SM, Harrison V, Sun A, Thies J, Pedroza LA, Lara-Taranchenko Y, Chinn IK, Lupski JR, Garza-Flores A, McGlothlin J, Yang L, Huang S, Wang X, Jewett T, Rosso G, Lin X, Mohammed S, Merritt JL 2nd, Mirzaa GM, Timms AE, Scheck J, Elting MW, Polstra AM, Schenck L, Ruzhnikov MRZ, Vetro A, Montomoli M, Guerrini R, Koboldt DC, Mosher TM, Pastore MT, McBride KL, Peng J, Pan Z, Willemsen M, Koning S, Turnpenny PD, de Vries BBA, Gilissen C, Pfundt R, Lees M, Braddock SR, Klemp KC, Vansenne F, van Gijn ME, Quindipan C, Deardorff MA, Hamm JA, Putnam AM, Baud R, Walsh L, Lynch SA, Baptista J, Person RE, Monaghan KG, Crunk A, Keller-Ramey J, Reich A, Elloumi HZ, Alders M, Kerkhof J, McConkey H, Haghshenas S; Genomics England Research Consortium; Maroofian R, Sadikovic B, Banka S, Arold ST, Barakat TS.
Weerts MJA, et al. Among authors: quindipan c.
Genet Med. 2021 Nov;23(11):2122-2137. doi: 10.1038/s41436-021-01246-2. Epub 2021 Aug 3.
Genet Med. 2021.
PMID: 34345025
Free PMC article.
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Genetic screening in the Persian Jewish community: A pilot study.
Kaback M, Lopatequi J, Portuges AR, Quindipan C, Pariani M, Salimpour-Davidov N, Rimoin DL.
Kaback M, et al. Among authors: quindipan c.
Genet Med. 2010 Oct;12(10):628-33. doi: 10.1097/GIM.0b013e3181edef5b.
Genet Med. 2010.
PMID: 20733503
Free article.
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