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

Year Number of Results
1993 3
2002 1
2006 1
2008 2
2009 2
2010 2
2011 2
2012 5
2013 7
2014 12
2015 13
2016 27
2017 24
2018 20
2019 32
2020 12
2021 28
2022 24
2023 25
2024 9

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225 results

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Page 1
De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor.
Xu Y, Song R, Perszyk RE, Chen W, Kim S, Park KL, Allen JP, Nocilla KA, Zhang J, XiangWei W, Tankovic A, McDaniels ED, Sheikh R, Mizu RK, Karamchandani MM, Hu C, Kusumoto H, Pecha J, Cappuccio G, Gaitanis J, Sullivan J, Shashi V, Petrovski S, Jauss RT, Lee HK, Bozarth X, Lynch DR, Helbig I, Pierson TM, Boerkoel CF, Myers SJ, Lemke JR, Benke TA, Yuan H, Traynelis SF. Xu Y, et al. Among authors: lemke jr. Cell Mol Life Sci. 2024 Mar 28;81(1):153. doi: 10.1007/s00018-023-05069-z. Cell Mol Life Sci. 2024. PMID: 38538865 Free PMC article.
Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNA.
Rohrlach AB, Rivollat M, de-Miguel-Ibáñez P, Moilanen U, Liira AM, Teixeira JC, Roca-Rada X, Armendáriz-Martija J, Boyadzhiev K, Boyadzhiev Y, Llamas B, Tiliakou A, Mötsch A, Tuke J, Prevedorou EA, Polychronakou-Sgouritsa N, Buikstra J, Onkamo P, Stockhammer PW, Heyne HO, Lemke JR, Risch R, Schiffels S, Krause J, Haak W, Prüfer K. Rohrlach AB, et al. Among authors: lemke jr. Nat Commun. 2024 Feb 20;15(1):1294. doi: 10.1038/s41467-024-45438-1. Nat Commun. 2024. PMID: 38378781 Free PMC article.
Biallelic variants in the calpain regulatory subunit CAPNS1 cause pulmonary arterial hypertension.
Postma AV, Rapp CK, Knoflach K, Volk AE, Lemke JR, Ackermann M, Regamey N, Latzin P, Celant L, Jansen SMA, Bogaard HJ, Ilgun A, Alders M, van Spaendonck-Zwarts KY, Jonigk D, Klein C, Gräf S, Kubisch C, Houweling AC, Griese M. Postma AV, et al. Among authors: lemke jr. Genet Med Open. 2023;1(1):100811. doi: 10.1016/j.gimo.2023.100811. Genet Med Open. 2023. PMID: 38230350 Free PMC article.
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Rinaldi B, Bayat A, Zachariassen LG, Sun JH, Ge YH, Zhao D, Bonde K, Madsen LH, Awad IAA, Bagiran D, Sbeih A, Shah SM, El-Sayed S, Lyngby SM, Pedersen MG, Stenum-Berg C, Walker LC, Krey I, Delahaye-Duriez A, Emrick LT, Sully K, Murali CN, Burrage LC, Plaud Gonzalez JA, Parnes M, Friedman J, Isidor B, Lefranc J, Redon S, Heron D, Mignot C, Keren B, Fradin M, Dubourg C, Mercier S, Besnard T, Cogne B, Deb W, Rivier C, Milani D, Bedeschi MF, Di Napoli C, Grilli F, Marchisio P, Koudijs S, Veenma D, Argilli E, Lynch SA, Au PYB, Ayala Valenzuela FE, Brown C, Masser-Frye D, Jones M, Patron Romero L, Li WL, Thorpe E, Hecher L, Johannsen J, Denecke J, McNiven V, Szuto A, Wakeling E, Cruz V, Sency V, Wang H, Piard J, Kortüm F, Herget T, Bierhals T, Condell A, Ben-Zeev B, Kaur S, Christodoulou J, Piton A, Zweier C, Kraus C, Micalizzi A, Trivisano M, Specchio N, Lesca G, Møller RS, Tümer Z, Musgaard M, Gerard B, Lemke JR, Shi YS, Kristensen AS. Rinaldi B, et al. Among authors: lemke jr. Brain. 2024 May 3;147(5):1837-1855. doi: 10.1093/brain/awad403. Brain. 2024. PMID: 38038360
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Jedraszak G, Jobic F, Receveur A, Bilan F, Gilbert-Dussardier B, Tiffany B, Missirian C, Willems M, Odent S, Lucas J, Dubourg C, Schaefer E, Scheidecker S, Lespinasse J, Goldenberg A, Guerrot AM, Joly-Helas G, Chambon P, Le Caignec C, David A, Coutton C, Satre V, Vieville G, Amblard F, Harbuz R, Sanlaville D, Till M, Vincent-Delorme C, Colson C, Andrieux J, Naudion S, Toutain J, Rooryck C, de Fréminville B, Prieur F, Daire VC, Amram D, Kleinfinger P, Schulze MB, Raabe-Meyer G, Courage C, Lemke J, Stefanou EG, Loretta T, Emmanouil M, Tzeli SK, Sodowska H, Anderson J, Nandini A, Copin H, Garçon L, Liehr T, Morin G. Jedraszak G, et al. Among authors: lemke j. Am J Med Genet A. 2024 Apr;194(4):e63476. doi: 10.1002/ajmg.a.63476. Epub 2023 Nov 16. Am J Med Genet A. 2024. PMID: 37974505
De novo variants in KCNA3 cause developmental and epileptic encephalopathy.
Soldovieri MV, Ambrosino P, Mosca I, Servettini I, Pietrunti F, Belperio G; KCNA3 study group; Syrbe S, Taglialatela M, Lemke JR. Soldovieri MV, et al. Among authors: lemke jr. Ann Neurol. 2024 Feb;95(2):365-376. doi: 10.1002/ana.26826. Epub 2023 Dec 28. Ann Neurol. 2024. PMID: 37964487
Deep histopathology genotype-phenotype analysis of focal cortical dysplasia type II differentiates between the GATOR1-altered autophagocytic subtype IIa and MTOR-altered migration deficient subtype IIb.
Honke J, Hoffmann L, Coras R, Kobow K, Leu C, Pieper T, Hartlieb T, Bien CG, Woermann F, Cloppenborg T, Kalbhenn T, Gaballa A, Hamer H, Brandner S, Rössler K, Dörfler A, Rampp S, Lemke JR, Baldassari S, Baulac S, Lal D, Nürnberg P, Blümcke I. Honke J, et al. Among authors: lemke jr. Acta Neuropathol Commun. 2023 Nov 9;11(1):179. doi: 10.1186/s40478-023-01675-x. Acta Neuropathol Commun. 2023. PMID: 37946310 Free PMC article.
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: lemke jr. Hum Mol Genet. 2024 Feb 1;33(4):355-373. doi: 10.1093/hmg/ddad188. Hum Mol Genet. 2024. PMID: 37944084 Free PMC article.
225 results