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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2003 1
2004 4
2005 3
2006 4
2007 8
2008 7
2009 4
2010 4
2011 4
2012 3
2013 4
2014 11
2015 9
2016 8
2017 10
2018 8
2019 9
2020 8
2021 10
2022 7
2023 5
2024 4

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109 results

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Page 1
Genetic Insights from Consanguineous Cardiomyopathy Families.
Maurer C, Boleti O, Najarzadeh Torbati P, Norouzi F, Fowler ANR, Minaee S, Salih KH, Taherpour M, Birjandi H, Alizadeh B, Salih AF, Bijari M, Houlden H, Pittman AM, Maroofian R, Almashham YH, Karimiani EG, Kaski JP, Faqeih EA, Vakilian F, Jamshidi Y. Maurer C, et al. Among authors: pittman am. Genes (Basel). 2023 Jan 10;14(1):182. doi: 10.3390/genes14010182. Genes (Basel). 2023. PMID: 36672924 Free PMC article.
Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways.
Young WJ, Lahrouchi N, Isaacs A, Duong T, Foco L, Ahmed F, Brody JA, Salman R, Noordam R, Benjamins JW, Haessler J, Lyytikäinen LP, Repetto L, Concas MP, van den Berg ME, Weiss S, Baldassari AR, Bartz TM, Cook JP, Evans DS, Freudling R, Hines O, Isaksen JL, Lin H, Mei H, Moscati A, Müller-Nurasyid M, Nursyifa C, Qian Y, Richmond A, Roselli C, Ryan KA, Tarazona-Santos E, Thériault S, van Duijvenboden S, Warren HR, Yao J, Raza D, Aeschbacher S, Ahlberg G, Alonso A, Andreasen L, Bis JC, Boerwinkle E, Campbell A, Catamo E, Cocca M, Cutler MJ, Darbar D, De Grandi A, De Luca A, Ding J, Ellervik C, Ellinor PT, Felix SB, Froguel P, Fuchsberger C, Gögele M, Graff C, Graff M, Guo X, Hansen T, Heckbert SR, Huang PL, Huikuri HV, Hutri-Kähönen N, Ikram MA, Jackson RD, Junttila J, Kavousi M, Kors JA, Leal TP, Lemaitre RN, Lin HJ, Lind L, Linneberg A, Liu S, MacFarlane PW, Mangino M, Meitinger T, Mezzavilla M, Mishra PP, Mitchell RN, Mononen N, Montasser ME, Morrison AC, Nauck M, Nauffal V, Navarro P, Nikus K, Pare G, Patton KK, Pelliccione G, Pittman A, Porteous DJ, Pramstaller PP, Preuss MH, Raitakari OT, Reiner AP, Ribeiro ALP, Rice KM, Risch L, Schlessinger D, Schotten U, Schurmann C,… See abstract for full author list ➔ Young WJ, et al. Among authors: pittman a. Nat Commun. 2022 Sep 1;13(1):5144. doi: 10.1038/s41467-022-32821-z. Nat Commun. 2022. PMID: 36050321 Free PMC article.
Integrin α7 Mutations Are Associated With Adult-Onset Cardiac Dysfunction in Humans and Mice.
Bugiardini E, Nunes AM, Oliveira-Santos A, Dagda M, Fontelonga TM, Barraza-Flores P, Pittman AM, Morrow JM, Parton M, Houlden H, Elliott PM, Syrris P, Maas RP, Akhtar MM, Küsters B, Raaphorst J, Schouten M, Kamsteeg EJ, van Engelen B, Hanna MG, Phadke R, Lopes LR, Matthews E, Burkin DJ. Bugiardini E, et al. Among authors: pittman am. J Am Heart Assoc. 2022 Dec 6;11(23):e026494. doi: 10.1161/JAHA.122.026494. Epub 2022 Nov 29. J Am Heart Assoc. 2022. PMID: 36444867 Free PMC article.
Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson's disease at 16q11.2 and MAPT H1 loci.
Soutar MPM, Melandri D, O'Callaghan B, Annuario E, Monaghan AE, Welsh NJ, D'Sa K, Guelfi S, Zhang D, Pittman A, Trabzuni D, Verboven AHA, Pan KS, Kia DA, Bictash M, Gandhi S, Houlden H, Cookson MR, Kasri NN, Wood NW, Singleton AB, Hardy J, Whiting PJ, Blauwendraat C, Whitworth AJ, Manzoni C, Ryten M, Lewis PA, Plun-Favreau H. Soutar MPM, et al. Among authors: pittman a. Brain. 2022 Dec 19;145(12):4349-4367. doi: 10.1093/brain/awac325. Brain. 2022. PMID: 36074904 Free PMC article.
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.
van Rheenen W, Shatunov A, Dekker AM, McLaughlin RL, Diekstra FP, Pulit SL, van der Spek RA, Võsa U, de Jong S, Robinson MR, Yang J, Fogh I, van Doormaal PT, Tazelaar GH, Koppers M, Blokhuis AM, Sproviero W, Jones AR, Kenna KP, van Eijk KR, Harschnitz O, Schellevis RD, Brands WJ, Medic J, Menelaou A, Vajda A, Ticozzi N, Lin K, Rogelj B, Vrabec K, Ravnik-Glavač M, Koritnik B, Zidar J, Leonardis L, Grošelj LD, Millecamps S, Salachas F, Meininger V, de Carvalho M, Pinto S, Mora JS, Rojas-García R, Polak M, Chandran S, Colville S, Swingler R, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Pittman A, Sidle K, Fratta P, Malaspina A, Topp S, Petri S, Abdulla S, Drepper C, Sendtner M, Meyer T, Ophoff RA, Staats KA, Wiedau-Pazos M, Lomen-Hoerth C, Van Deerlin VM, Trojanowski JQ, Elman L, McCluskey L, Basak AN, Tunca C, Hamzeiy H, Parman Y, Meitinger T, Lichtner P, Radivojkov-Blagojevic M, Andres CR, Maurel C, Bensimon G, Landwehrmeyer B, Brice A, Payan CA, Saker-Delye S, Dürr A, Wood NW, Tittmann L, Lieb W, Franke A, Rietschel M, Cichon S, Nöthen MM, Amouyel P, Tzourio C, Dartigues JF, Uitterlinden AG, Rivadeneira F, Estrada K, Hofman A, Curtis C, Blauw HM, van der Kooi AJ, de Visser M, … See abstract for full author list ➔ van Rheenen W, et al. Among authors: pittman a. Nat Genet. 2016 Sep;48(9):1043-8. doi: 10.1038/ng.3622. Epub 2016 Jul 25. Nat Genet. 2016. PMID: 27455348 Free PMC article.
Genetic analysis in neurology: the next 10 years.
Pittman A, Hardy J. Pittman A, et al. JAMA Neurol. 2013 Jun;70(6):696-702. doi: 10.1001/jamaneurol.2013.2068. JAMA Neurol. 2013. PMID: 23571731 Free PMC article. Review.
Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities.
Whittle EF, Chilian M, Karimiani EG, Progri H, Buhas D, Kose M, Ganetzky RD, Toosi MB, Torbati PN, Badv RS, Shelihan I, Yang H, Elloumi HZ, Lee S, Jamshidi Y, Pittman AM, Houlden H, Ignatius E, Rahman S, Maroofian R, Yoon WH, Carroll CJ. Whittle EF, et al. Among authors: pittman am. Genet Med. 2023 Feb;25(2):100332. doi: 10.1016/j.gim.2022.11.001. Epub 2022 Dec 15. Genet Med. 2023. PMID: 36520152 Free PMC article.
Investigation of clinical characteristics and genome associations in the 'UK Lipoedema' cohort.
Grigoriadis D, Sackey E, Riches K, van Zanten M, Brice G, England R, Mills M, Dobbins SE, Lee LL; Lipoedema Consortium; Genomics England Research Consortium; Jeffery S, Dong L, Savage DB, Mortimer PS, Keeley V, Pittman A, Gordon K, Ostergaard P. Grigoriadis D, et al. Among authors: pittman a. PLoS One. 2022 Oct 13;17(10):e0274867. doi: 10.1371/journal.pone.0274867. eCollection 2022. PLoS One. 2022. PMID: 36227936 Free PMC article.
Mosaic BRAF Fusions Are a Recurrent Cause of Congenital Melanocytic Nevi Targetable by MAPK Pathway Inhibition.
Martin SB, Polubothu S, Bruzos AL, Kelly G, Horswell S, Sauvadet A, Bryant D, Zecchin D, Riachi M, Michailidis F, Sadri A, Muwanga-Nanyonjo N, Lopez-Balboa P, Knöpfel N, Bulstrode N, Pittman A, Yeh I, Kinsler VA. Martin SB, et al. Among authors: pittman a. J Invest Dermatol. 2024 Mar;144(3):593-600.e7. doi: 10.1016/j.jid.2023.06.213. Epub 2023 Sep 15. J Invest Dermatol. 2024. PMID: 37716647 Free article.
Community-based genetic study of Parkinson's disease in Estonia.
Muldmaa M, Mencacci NE, Pittman A, Kadastik-Eerme L, Sikk K, Taba P, Hardy J, Kõks S. Muldmaa M, et al. Among authors: pittman a. Acta Neurol Scand. 2021 Jan;143(1):89-95. doi: 10.1111/ane.13329. Epub 2020 Aug 20. Acta Neurol Scand. 2021. PMID: 32740907
109 results