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Page 1
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
Ramantani G, Kohlhase J, Hertzberg C, Innes AM, Engel K, Hunger S, Borozdin W, Mah JK, Ungerath K, Walkenhorst H, Richardt HH, Buckard J, Bevot A, Siegel C, von Stülpnagel C, Ikonomidou C, Thomas K, Proud V, Niemann F, Wieczorek D, Häusler M, Niggemann P, Baltaci V, Conrad K, Lebon P, Lee-Kirsch MA. Ramantani G, et al. Among authors: innes am. Arthritis Rheum. 2010 May;62(5):1469-77. doi: 10.1002/art.27367. Arthritis Rheum. 2010. PMID: 20131292
Intracerebral hemorrhage in a young man.
Coutts SB, Matysiak-Scholze U, Kohlhase J, Innes AM. Coutts SB, et al. Among authors: innes am. CMAJ. 2011 Jan 11;183(1):E61-4. doi: 10.1503/cmaj.091496. Epub 2010 Aug 30. CMAJ. 2011. PMID: 20805207 Free PMC article. No abstract available.
ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome.
Zak J, Vives V, Szumska D, Vernet A, Schneider JE, Miller P, Slee EA, Joss S, Lacassie Y, Chen E, Escobar LF, Tucker M, Aylsworth AS, Dubbs HA, Collins AT, Andrieux J, Dieux-Coeslier A, Haberlandt E, Kotzot D, Scott DA, Parker MJ, Zakaria Z, Choy YS, Wieczorek D, Innes AM, Jun KR, Zinner S, Prin F, Lygate CA, Pretorius P, Rosenfeld JA, Mohun TJ, Lu X. Zak J, et al. Among authors: innes am. Cell Death Differ. 2016 Dec;23(12):1973-1984. doi: 10.1038/cdd.2016.76. Epub 2016 Jul 22. Cell Death Differ. 2016. PMID: 27447114 Free PMC article.
Update on Kleefstra Syndrome.
Willemsen MH, Vulto-van Silfhout AT, Nillesen WM, Wissink-Lindhout WM, van Bokhoven H, Philip N, Berry-Kravis EM, Kini U, van Ravenswaaij-Arts CM, Delle Chiaie B, Innes AM, Houge G, Kosonen T, Cremer K, Fannemel M, Stray-Pedersen A, Reardon W, Ignatius J, Lachlan K, Mircher C, Helderman van den Enden PT, Mastebroek M, Cohn-Hokke PE, Yntema HG, Drunat S, Kleefstra T. Willemsen MH, et al. Among authors: innes am. Mol Syndromol. 2012 Apr;2(3-5):202-212. doi: 10.1159/000335648. Epub 2012 Jan 24. Mol Syndromol. 2012. PMID: 22670141 Free PMC article.
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Mirzaa GM, Yan K, Relator R, Levesque M, Jayasinghe P, Timpano S, Yalcin B, Collins S, Ziegler A, Pao E, Oyama N, Brischoux-Boucher E, Piard J, Monaghan KG, Guillen Sacoto MJ, Dobyns WB, Park KL, Fernández-Mayoralas DM, Fernández-Jaén A, Jayakar P, Palomares-Bralo M, Santos-Simarro F, Brusco A, Antona V, Giorgio E, Kvarnung M, Isidor B, Conrad S, Cogné B, Deb W, Stuurman KE, Štěrbová K, Smal N, Weckhuysen S, Oegema R, Innes AM, Koboldt DC, Ben-Omran T, Yeh RC, Kruer MC, Bakhtiari S, Papavasiliou A, Moutton S, Nambot S, Chanprasert S, Paolucci SA, Miller K, Burton B, Kim K, O'Heir E, Bruwer Z, Donald KA, Kleefstra T, Goldstein A, Angle B, Bontempo K, Miny P, Joset P, Demurger F, Hobson E, Pang L, Carpenter L, Li D, Bonneau D, Sadikovic B, Picketts DJ. Mirzaa GM, et al. Among authors: innes am. Nat Commun. 2025 Nov 10;16(1):9875. doi: 10.1038/s41467-025-64838-5. Nat Commun. 2025. PMID: 41213919 Free PMC article.
Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes.
Wang Y, Sams EI, Slaugh R, Crocker S, Hurtado EC, Tracy S, Hou YC, Markovic C, Valle K, Tate V, Belhassan K, Appelbaum E, Akinwe T, Starosta RT, Cao Y, Neilson A, Liu Y, Jensen N, Ghasemi R, Lindsay T, Manuel J, Couteranis S, Kremitzki M, Ustanik J, Antonacci T, Ng JK, Emory A, Metz L, DeLuca T, Lyons KN, Sinnwell T, Thomeczek B, Wang K, Sisneros N, Muraleedharan M, Kethireddy A, Corbo M, Gowda H, King KA, Gurnett CA, Dutcher SK, Gooch C, Li YE, Mitchell MW, Peterson KA, Horani A, Rosenfeld JA, Bi W, Stankiewicz P, Chao HT, Posey JE, Grochowski CM, Dardas Z, Puffenberger EG, Pearson CE, Kooy F, Annear D, Innes AM, Heinz M, Head R, Fulton R, Toutain S; 9P-ARCH; Antonacci-Fulton L, Cui X, Mitra RD, Cole FS, Neidich J, Dickson PI, Milbrandt J, Turner TN. Wang Y, et al. Among authors: innes am. Genome Med. 2025 Oct 24;17(1):129. doi: 10.1186/s13073-025-01563-0. Genome Med. 2025. PMID: 41137173 Free PMC article.
Epilepsy due to a MED25 Homozygous Pathogenic Founder Variant.
Ng AC, D'Alfonso S, Innes AM, Scantlebury MH. Ng AC, et al. Among authors: innes am. J Child Neurol. 2025 Sep 24:8830738251377579. doi: 10.1177/08830738251377579. Online ahead of print. J Child Neurol. 2025. PMID: 40990994 Free article.
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
Choufani S, McNiven V, Cytrynbaum C, Jangjoo M, Adam MP, Bjornsson HT, Harris J, Dyment DA, Graham GE, Nezarati MM, Aul RB, Castiglioni C, Breckpot J, Devriendt K, Stewart H, Banos-Pinero B, Mehta S, Sandford R, Dunn C, Mathevet R, van Maldergem L, Piard J, Brischoux-Boucher E, Vitobello A, Faivre L, Bournez M, Tran-Mau F, Maystadt I, Fernández-Jaén A, Alvarez S, García-Prieto ID, Alkuraya FS, Alsaif HS, Rahbeeni Z, El-Akouri K, Al-Mureikhi M, Spillmann RC, Shashi V, Sanchez-Lara PA, Graham JM Jr, Roberts A, Chorin O, Evrony GD, Kraatari-Tiri M, Dudding-Byth T, Richardson A, Hunt D, Hamilton L, Dyack S, Mendelsohn BA, Rodríguez N, Sánchez-Martínez R, Tenorio-Castaño J, Nevado J, Lapunzina P, Tirado P, Carminho Amaro Rodrigues MT, Quteineh L, Innes AM, Kline AD, Au PYB, Weksberg R. Choufani S, et al. Among authors: innes am. Am J Hum Genet. 2025 Aug 7;112(8):1979. doi: 10.1016/j.ajhg.2025.07.001. Am J Hum Genet. 2025. PMID: 40780051 Free PMC article. No abstract available.
Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder.
Maroni MJ, Barton M, Lynch K, Deshwar AR, Campbell PD, Millard J, Lee R, Cohen A, Ahmad R, Paranjapye A, Faundes V, Repetto GM, McKenna C, Shillington AL, Phornphutkul C, Hove HB, Mancini GMS, Schot R, Barakat TS, Richmond CM, Lauzon J, Ibrahim AIE, Nava C, Héron D, van Aalst MMA, Atemin S, Sleptsova M, Aleksandrova I, Todorova A, Watkins DL, Kozenko MA, Natera-de Benito D, Ortez C, Estevez-Arias B, Lecoquierre F, Cassinari K, Guerrot AM, Levy J, Latypova X, Verloes A, Innes AM, Yang XR, Banka S, Vill K, Jacob M, Kruer M, Skidmore P, Galaz-Montoya CI, Bakhtiari S, Mester JL, Granato M, Armache KJ, Costain G, Korb E. Maroni MJ, et al. Among authors: innes am. Brain. 2025 Jun 11:awaf212. doi: 10.1093/brain/awaf212. Online ahead of print. Brain. 2025. PMID: 40494548
196 results