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Page 1
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.
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.
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.
Assessment of genetic variant burden in epilepsy-associated brain lesions.
Niestroj LM, May P, Artomov M, Kobow K, Coras R, Pérez-Palma E, Altmüller J, Thiele H, Nürnberg P, Leu C, Palotie A, Daly MJ, Klein KM, Beschorner R, Weber YG, Blümcke I, Lal D. Niestroj LM, et al. Eur J Hum Genet. 2019 Nov;27(11):1738-1744. doi: 10.1038/s41431-019-0484-4. Epub 2019 Jul 29. Eur J Hum Genet. 2019. PMID: 31358956 Free PMC article.
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