Search PubMed for ‘niestroj lm’

2023

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. Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals. Nat Commun. 2023 Jul 20;14(1):4392. doi: 10.1038/s41467-023-39539-6. PMID: 37474567

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. The genomic landscape across 474 surgically accessible epileptogenic human brain lesions. Brain. 2023 Apr 19;146(4):1342-1356. doi: 10.1093/brain/awac376. PMID: 36226386

2022

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. A cross-disorder dosage sensitivity map of the human genome. Cell. 2022 Aug 4;185(16):3041-3055.e25. doi: 10.1016/j.cell.2022.06.036. PMID: 35917817

Eduardo Pérez-Palma, Lisa-Marie Niestroj, Miguel Inca-Martínez, Camilo Villaman, Elif Irem Sarihan, Dennis Lal & Ignacio Mata. Copy Number Variation Analysis from SNP Genotyping Microarrays in Large Cohorts of Neurological Disorders. Part of the Neuromethods book series. 2022 (NM,volume 182)

2021

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)†. Genome-Wide Analysis of Copy Number Variation in Latin American Parkinson's Disease Patients. Mov Disord. 2021 Feb;36(2):434-441. doi: 10.1002/mds.28353. PMID: 33150996

2020

Leu C, Bautista JF, Sudarsanam M, Niestroj LM, Stefanski A, Ferguson L, Daly MJ, Jehi L, Najm IM, Busch RM, Lal D. Neurological disorder-associated genetic variants in individuals with psychogenic nonepileptic seizures. Sci Rep. 2020 Sep 16;10(1):15205. doi: 10.1038/s41598-020-72101-8. PMID: 32938993

Niestroj LM, Perez-Palma E, Howrigan DP, Zhou Y, Cheng F, Saarentaus E, Nürnberg P, Stevelink R, Daly MJ, Palotie A, Lal D; Epi25 Collaborative. Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects. Brain. 2020 Jul 1;143(7):2106-2118. doi: 10.1093/brain/awaa171. PMID: 32568404

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. Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders. Genome Med. 2020 Mar 17;12(1):28. doi: 10.1186/s13073-020-00725-6. PMID: 32183904

Yehia L, Seyfi M, Niestroj LM, Padmanabhan R, Ni Y, Frazier TW, Lal D, Eng C. Copy Number Variation and Clinical Outcomes in Patients With Germline PTEN Mutations. JAMA Netw Open. 2020 Jan 3;3(1):e1920415. doi: 10.1001/jamanetworkopen.2019.20415. PMID: 32003824

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. Identification of pathogenic variant enriched regions across genes and gene families. Genome Res. 2020 Jan;30(1):62-71. doi: 10.1101/gr.252601.119. PMID: 31871067

2019

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. Distinct genetic variation and heterogeneity of the Iranian population. PLoS Genet. 2019 Sep 24;15(9):e1008385. doi: 10.1371/journal.pgen.1008385. PMID: 31550250

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. Assessment of genetic variant burden in epilepsy-associated brain lesions. Eur J Hum Genet. 2019 Nov;27(11):1738-1744. doi: 10.1038/s41431-019-0484-4. PMID: 31358956

Demarest ST, Olson HE, Moss A, Pestana-Knight E, Zhang X, Parikh S, Swanson LC, Riley KD, Bazin GA, Angione K, Niestroj LM, Lal D, Juarez-Colunga E, Benke TA. CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development. Epilepsia. 2019 Aug;60(8):1733-1742. doi: 10.1111/epi.16285. PMID: 31313283

Du J, Sudarsanam M, Pérez-Palma E, Ganna A, Francioli L, Iqbal S, Niestroj LM, Leu C, Weisburd B, Poterba T, Nürnberg P, Daly MJ, Palotie A, May P, Lal D. Variant Score Ranker-a web application for intuitive missense variant prioritization. Bioinformatics. 2019 Nov 1;35(21):4478-4479. doi: 10.1093/bioinformatics/btz252. PMID: 31086968

Ying Z, Wang I, Blümcke I, Bulacio J, Alexopoulos A, Jehi L, Bingaman W, Gonzalez-Martinez J, Kobow K, Niestroj LM, Lal D, Koelble K, Najm I. A comprehensive clinico-pathological and genetic evaluation of bottom-of-sulcus focal cortical dysplasia in patients with difficult-to-localize focal epilepsy. Epileptic Disord. 2019 Feb 1;21(1):65-77. doi: 10.1684/epd.2019.1028. PMID: 30782578

2018

Niestroj LM, Du J, Nothnagel M, May P, Palotie A, Daly MJ, Nürnberg P, Blümcke I, Lal D. Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies. Epilepsia. 2018 Nov;59(11):2145-2152. doi: 10.1111/epi.14579. PMID: 30341947

*Authors contributed equally to the study