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Page 1
The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.
Waters AM, Asfahani R, Carroll P, Bicknell L, Lescai F, Bright A, Chanudet E, Brooks A, Christou-Savina S, Osman G, Walsh P, Bacchelli C, Chapgier A, Vernay B, Bader DM, Deshpande C, O' Sullivan M, Ocaka L, Stanescu H, Stewart HS, Hildebrandt F, Otto E, Johnson CA, Szymanska K, Katsanis N, Davis E, Kleta R, Hubank M, Doxsey S, Jackson A, Stupka E, Winey M, Beales PL. Waters AM, et al. Among authors: deshpande c. J Med Genet. 2015 Mar;52(3):147-56. doi: 10.1136/jmedgenet-2014-102691. Epub 2015 Jan 6. J Med Genet. 2015. PMID: 25564561 Free PMC article.
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource; Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA. Gorman KM, et al. Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982612 Free PMC article.
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.
Nitschke Y, Baujat G, Botschen U, Wittkampf T, du Moulin M, Stella J, Le Merrer M, Guest G, Lambot K, Tazarourte-Pinturier MF, Chassaing N, Roche O, Feenstra I, Loechner K, Deshpande C, Garber SJ, Chikarmane R, Steinmann B, Shahinyan T, Martorell L, Davies J, Smith WE, Kahler SG, McCulloch M, Wraige E, Loidi L, Höhne W, Martin L, Hadj-Rabia S, Terkeltaub R, Rutsch F. Nitschke Y, et al. Among authors: deshpande c. Am J Hum Genet. 2012 Jan 13;90(1):25-39. doi: 10.1016/j.ajhg.2011.11.020. Epub 2011 Dec 29. Am J Hum Genet. 2012. PMID: 22209248 Free PMC article.
Lack of prolidase causes a bone phenotype both in human and in mouse.
Besio R, Maruelli S, Gioia R, Villa I, Grabowski P, Gallagher O, Bishop NJ, Foster S, De Lorenzi E, Colombo R, Diaz JL, Moore-Barton H, Deshpande C, Aydin HI, Tokatli A, Kwiek B, Kasapkara CS, Adisen EO, Gurer MA, Di Rocco M, Phang JM, Gunn TM, Tenni R, Rossi A, Forlino A. Besio R, et al. Among authors: deshpande c. Bone. 2015 Mar;72:53-64. doi: 10.1016/j.bone.2014.11.009. Epub 2014 Nov 20. Bone. 2015. PMID: 25460580
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
Sheppard SE, Bryant L, Wickramasekara RN, Vaccaro C, Robertson B, Hallgren J, Hulen J, Watson CJ, Faundes V, Duffourd Y, Lee P, Simon MC, de la Cruz X, Padilla N, Flores-Mendez M, Akizu N, Smiler J, Pellegrino Da Silva R, Li D, March M, Diaz-Rosado A, Peixoto de Barcelos I, Choa ZX, Lim CY, Dubourg C, Journel H, Demurger F, Mulhern M, Akman C, Lippa N, Andrews M, Baldridge D, Constantino J, van Haeringen A, Snoeck-Streef I, Chow P, Hing A, Graham JM Jr, Au M, Faivre L, Shen W, Mao R, Palumbos J, Viskochil D, Gahl W, Tifft C, Macnamara E, Hauser N, Miller R, Maffeo J, Afenjar A, Doummar D, Keren B, Arn P, Macklin-Mantia S, Meerschaut I, Callewaert B, Reis A, Zweier C, Brewer C, Saggar A, Smeland MF, Kumar A, Elmslie F, Deshpande C, Nizon M, Cogne B, van Ierland Y, Wilke M, van Slegtenhorst M, Koudijs S, Chen JY, Dredge D, Pier D, Wortmann S, Kamsteeg EJ, Koch J, Haynes D, Pollack L, Titheradge H, Ranguin K, Denommé-Pichon AS, Weber S, Pérez de la Fuente R, Sánchez Del Pozo J, Lezana Rosales JM, Joset P, Steindl K, Rauch A, Mei D, Mari F, Guerrini R, Lespinasse J, Tran Mau-Them F, Philippe C, Dauriat B, Raymond L, Moutton S, Cueto-González AM, Tan TY, Mignot C, Grotto S, Rena… See abstract for full author list ➔ Sheppard SE, et al. Among authors: deshpande c. Sci Adv. 2023 Mar 10;9(10):eade1463. doi: 10.1126/sciadv.ade1463. Epub 2023 Mar 10. Sci Adv. 2023. PMID: 36897941 Free PMC article.
Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease.
Van Haute L, Páleníková P, Tang JX, Nash PA, Simon MT, Pyle A, Oláhová M, Powell CA, Rebelo-Guiomar P, Stover A, Champion M, Deshpande C, Baple EL, Stals KL, Ellard S, Anselem O, Molac C, Petrilli G, Loeuillet L, Grotto S, Attie-Bitach T, Abdenur JE, Taylor RW, Minczuk M. Van Haute L, et al. Among authors: deshpande c. EMBO Mol Med. 2024 Nov 20. doi: 10.1038/s44321-024-00172-5. Online ahead of print. EMBO Mol Med. 2024. PMID: 39567835 Free article.
ZNF512B binds RBBP4 via a variant NuRD interaction motif and aggregates chromatin in a NuRD complex-independent manner.
Wunderlich TM, Deshpande C, Paasche LW, Friedrich T, Diegmüller F, Haddad E, Kreienbaum C, Naseer H, Stebel SE, Daus N, Leers J, Lan J, Trinh VT, Vázquez O, Butter F, Bartkuhn M, Mackay JP, Hake SB. Wunderlich TM, et al. Among authors: deshpande c. Nucleic Acids Res. 2024 Nov 27;52(21):12831-12849. doi: 10.1093/nar/gkae926. Nucleic Acids Res. 2024. PMID: 39460621 Free PMC article.
Diagnostic alignment to optimize inter-rater reliability among lung transplant pathologists.
Pavlisko EN, Neely ML, Wikenheiser-Brokamp KA, Fishbein GA, Litzky L, Farver CF, Pal P, He M, Illei PB, Deshpande C, Robien MA, Kirchner J, Frankel CW, Lang JE, Belperio JA, Palmer SM, Sweet SC; Clinical Trials and Organ Transplantation (CTOT)-47 consortium. Pavlisko EN, et al. Among authors: deshpande c. J Heart Lung Transplant. 2024 Oct 13:S1053-2498(24)01895-3. doi: 10.1016/j.healun.2024.10.007. Online ahead of print. J Heart Lung Transplant. 2024. PMID: 39406318
279 results