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Page 1
Missense variants in the TRPM7 α-kinase domain are associated with recurrent pediatric acute liver failure.
Schlieben LD, Achleitner MT, Bourke B, Diesner M, Feichtinger RG, Fichtner A, Flechtenmacher C, Hadzic N, Hegarty R, Heilos A, Janecke A, Konstantopoulou V, Lenz D, Mayr JA, Müller T, Prokisch H, Vogel GF. Schlieben LD, et al. Among authors: janecke a. Hepatol Commun. 2024 Nov 29;8(12):e0598. doi: 10.1097/HC9.0000000000000598. eCollection 2024 Dec 1. Hepatol Commun. 2024. PMID: 39621058 Free PMC article.
PERCC1 -Related Congenital Enteropathy.
Kerle LS, Karlsland Åkeson P, Müller T, Janecke AR. Kerle LS, et al. Among authors: janecke ar. Clin Genet. 2025 Jan;107(1):115-116. doi: 10.1111/cge.14638. Epub 2024 Oct 29. Clin Genet. 2025. PMID: 39473069 Free PMC article.
Steatotic liver disease associated with 2,4-dienoyl-CoA reductase 1 deficiency.
Kohlmaier B, Skok K, Lackner C, Haselrieder G, Müller T, Sailer S, Zschocke J, Keller MA, Knisely AS, Janecke AR. Kohlmaier B, et al. Among authors: janecke ar. Int J Obes (Lond). 2024 Dec;48(12):1818-1821. doi: 10.1038/s41366-024-01634-z. Epub 2024 Sep 14. Int J Obes (Lond). 2024. PMID: 39277655 Free PMC article.
The impact and future of artificial intelligence in medical genetics and molecular medicine: an ongoing revolution.
Ozcelik F, Dundar MS, Yildirim AB, Henehan G, Vicente O, Sánchez-Alcázar JA, Gokce N, Yildirim DT, Bingol NN, Karanfilska DP, Bertelli M, Pojskic L, Ercan M, Kellermayer M, Sahin IO, Greiner-Tollersrud OK, Tan B, Martin D, Marks R, Prakash S, Yakubi M, Beccari T, Lal R, Temel SG, Fournier I, Ergoren MC, Mechler A, Salzet M, Maffia M, Danalev D, Sun Q, Nei L, Matulis D, Tapaloaga D, Janecke A, Bown J, Cruz KS, Radecka I, Ozturk C, Nalbantoglu OU, Sag SO, Ko K, Arngrimsson R, Belo I, Akalin H, Dundar M. Ozcelik F, et al. Among authors: janecke a. Funct Integr Genomics. 2024 Aug 16;24(4):138. doi: 10.1007/s10142-024-01417-9. Funct Integr Genomics. 2024. PMID: 39147901 Review.
Kinesin family member 12-related hepatopathy: A generally indolent disorder with elevated gamma-glutamyl-transferase activity.
Vogel GF, Podpeskar A, Rieder D, Salzer H, Garczarczyk-Asim D, Wang L, Abuduxikuer K, Wang JS, Scharrer A, Faqeih EA, Aseeri AT, Vodopiutz J, Heilos A, Pichler J, Huber WD, Müller T, Knisely AS, Janecke AR. Vogel GF, et al. Among authors: janecke ar. Clin Genet. 2024 Sep;106(3):224-233. doi: 10.1111/cge.14524. Epub 2024 Mar 29. Clin Genet. 2024. PMID: 38553872
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
Stegmann JD, Kalanithy JC, Dworschak GC, Ishorst N, Mingardo E, Lopes FM, Ho YM, Grote P, Lindenberg TT, Yilmaz Ö, Channab K, Seltzsam S, Shril S, Hildebrandt F, Boschann F, Heinen A, Jolly A, Myers K, McBride K, Bekheirnia MR, Bekheirnia N, Scala M, Morleo M, Nigro V, Torella A; TUDP consortium; Pinelli M, Capra V, Accogli A, Maitz S, Spano A, Olson RJ, Klee EW, Lanpher BC, Jang SS, Chae JH, Steinbauer P, Rieder D, Janecke AR, Vodopiutz J, Vogel I, Blechingberg J, Cohen JL, Riley K, Klee V, Walsh LE, Begemann M, Elbracht M, Eggermann T, Stoppe A, Stuurman K, van Slegtenhorst M, Barakat TS, Mulhern MS, Sands TT, Cytrynbaum C, Weksberg R, Isidori F, Pippucci T, Severi G, Montanari F, Kruer MC, Bakhtiari S, Darvish H, Reutter H, Hagelueken G, Geyer M, Woolf AS, Posey JE, Lupski JR, Odermatt B, Hilger AC. Stegmann JD, et al. Among authors: janecke ar. NPJ Genom Med. 2024 Mar 1;9(1):18. doi: 10.1038/s41525-024-00398-9. NPJ Genom Med. 2024. PMID: 38429302 Free PMC article.
Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1.
Patterson K, Chong JX, Chung DD, Lisch W, Karp CL, Dreisler E, Lockington D, Rohrbach JM, Garczarczyk-Asim D, Müller T, Tuft SJ, Skalicka P, Wilnai Y, Samra NN, Ibrahim A, Mandel H, Davidson AE, Liskova P, Aldave AJ, Bamshad MJ, Janecke AR. Patterson K, et al. Among authors: janecke ar. Am J Ophthalmol. 2024 Feb;258:183-195. doi: 10.1016/j.ajo.2023.10.011. Epub 2023 Nov 14. Am J Ophthalmol. 2024. PMID: 37972748 Free article.
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.
Oppermann H, Marcos-Grañeda E, Weiss LA, Gurnett CA, Jelsig AM, Vineke SH, Isidor B, Mercier S, Magnussen K, Zacher P, Hashim M, Pagnamenta AT, Race S, Srivastava S, Frazier Z, Maiwald R, Pergande M, Milani D, Rinelli M, Levy J, Krey I, Fontana P, Lonardo F, Riley S, Kretzer J, Rankin J, Reis LM, Semina EV, Reuter MS, Scherer SW, Iascone M, Weis D, Fagerberg CR, Brasch-Andersen C, Hansen LK, Kuechler A, Noble N, Gardham A, Tenney J, Rathore G, Beck-Woedl S, Haack TB, Pavlidou DC, Atallah I, Vodopiutz J, Janecke AR, Hsieh TC, Lesmann H, Klinkhammer H, Krawitz PM, Lemke JR, Jamra RA, Nieto M, Tümer Z, Platzer K. Oppermann H, et al. Among authors: janecke ar. Eur J Hum Genet. 2023 Nov;31(11):1251-1260. doi: 10.1038/s41431-023-01445-2. Epub 2023 Aug 30. Eur J Hum Genet. 2023. PMID: 37644171 Free PMC article.
188 results