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Page 1
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.
Montanucci L, Lewis-Smith D, Collins RL, Niestroj LM, Parthasarathy S, Xian J, Ganesan S, Macnee M, Brünger T, Thomas RH, Talkowski M; Epi25 Collaborative; Helbig I, Leu C, Lal D. Montanucci L, et al. Among authors: niestroj lm. Nat Commun. 2023 Jul 20;14(1):4392. doi: 10.1038/s41467-023-39539-6. Nat Commun. 2023. PMID: 37474567 Free PMC article.
The genomic landscape across 474 surgically accessible epileptogenic human brain lesions.
López-Rivera JA, Leu C, Macnee M, Khoury J, Hoffmann L, Coras R, Kobow K, Bhattarai N, Pérez-Palma E, Hamer H, Brandner S, Rössler K, Bien CG, Kalbhenn T, Pieper T, Hartlieb T, Butler E, Genovese G, Becker K, Altmüller J, Niestroj LM, Ferguson L, Busch RM, Nürnberg P, Najm I, Blümcke I, Lal D. López-Rivera JA, et al. Among authors: niestroj lm. Brain. 2023 Apr 19;146(4):1342-1356. doi: 10.1093/brain/awac376. Brain. 2023. PMID: 36226386 Free PMC article.
A cross-disorder dosage sensitivity map of the human genome.
Collins RL, Glessner JT, Porcu E, Lepamets M, Brandon R, Lauricella C, Han L, Morley T, Niestroj LM, Ulirsch J, Everett S, Howrigan DP, Boone PM, Fu J, Karczewski KJ, Kellaris G, Lowther C, Lucente D, Mohajeri K, Nõukas M, Nuttle X, Samocha KE, Trinh M, Ullah F, Võsa U; Epi25 Consortium; Estonian Biobank Research Team; Hurles ME, Aradhya S, Davis EE, Finucane H, Gusella JF, Janze A, Katsanis N, Matyakhina L, Neale BM, Sanders D, Warren S, Hodge JC, Lal D, Ruderfer DM, Meck J, Mägi R, Esko T, Reymond A, Kutalik Z, Hakonarson H, Sunyaev S, Brand H, Talkowski ME. Collins RL, et al. Among authors: niestroj lm. Cell. 2022 Aug 4;185(16):3041-3055.e25. doi: 10.1016/j.cell.2022.06.036. Epub 2022 Aug 1. Cell. 2022. PMID: 35917817 Free PMC article.
Genome-Wide Analysis of Copy Number Variation in Latin American Parkinson's Disease Patients.
Sarihan EI, Pérez-Palma E, Niestroj LM, Loesch D, Inca-Martinez M, Horimoto ARVR, Cornejo-Olivas M, Torres L, Mazzetti P, Cosentino C, Sarapura-Castro E, Rivera-Valdivia A, Dieguez E, Raggio V, Lescano A, Tumas V, Borges V, Ferraz HB, Rieder CR, Schumacher-Schuh AF, Santos-Lobato BL, Velez-Pardo C, Jimenez-Del-Rio M, Lopera F, Moreno S, Chana-Cuevas P, Fernandez W, Arboleda G, Arboleda H, Arboleda-Bustos CE, Yearout D, Zabetian CP, Thornton TA, O'Connor TD, Lal D, Mata IF; Latin American Research Consortium on the Genetics of Parkinson's Disease (LARGE-PD)‡. Sarihan EI, et al. Among authors: niestroj lm. Mov Disord. 2021 Feb;36(2):434-441. doi: 10.1002/mds.28353. Epub 2020 Nov 5. Mov Disord. 2021. PMID: 33150996 Free PMC article.
Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders.
Lal D, May P, Perez-Palma E, Samocha KE, Kosmicki JA, Robinson EB, Møller RS, Krause R, Nürnberg P, Weckhuysen S, De Jonghe P, Guerrini R, Niestroj LM, Du J, Marini C; EuroEPINOMICS-RES Consortium; Ware JS, Kurki M, Gormley P, Tang S, Wu S, Biskup S, Poduri A, Neubauer BA, Koeleman BPC, Helbig KL, Weber YG, Helbig I, Majithia AR, Palotie A, Daly MJ. Lal D, et al. Among authors: niestroj lm. Genome Med. 2020 Mar 17;12(1):28. doi: 10.1186/s13073-020-00725-6. Genome Med. 2020. PMID: 32183904 Free PMC article.
Identification of pathogenic variant enriched regions across genes and gene families.
Pérez-Palma E, May P, Iqbal S, Niestroj LM, Du J, Heyne HO, Castrillon JA, O'Donnell-Luria A, Nürnberg P, Palotie A, Daly M, Lal D. Pérez-Palma E, et al. Among authors: niestroj lm. Genome Res. 2020 Jan;30(1):62-71. doi: 10.1101/gr.252601.119. Epub 2019 Dec 23. Genome Res. 2020. PMID: 31871067 Free PMC article.
Distinct genetic variation and heterogeneity of the Iranian population.
Mehrjoo Z, Fattahi Z, Beheshtian M, Mohseni M, Poustchi H, Ardalani F, Jalalvand K, Arzhangi S, Mohammadi Z, Khoshbakht S, Najafi F, Nikuei P, Haddadi M, Zohrehvand E, Oladnabi M, Mohammadzadeh A, Jafari MH, Akhtarkhavari T, Gooshki ES, Haghdoost A, Najafipour R, Niestroj LM, Helwing B, Gossmann Y, Toliat MR, Malekzadeh R, Nürnberg P, Kahrizi K, Najmabadi H, Nothnagel M. Mehrjoo Z, et al. Among authors: niestroj lm. PLoS Genet. 2019 Sep 24;15(9):e1008385. doi: 10.1371/journal.pgen.1008385. eCollection 2019 Sep. PLoS Genet. 2019. PMID: 31550250 Free PMC article.
15 results