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Page 1
Updates in SJS/TEN: collaboration, innovation, and community.
Marks ME, Botta RK, Abe R, Beachkofsky TM, Boothman I, Carleton BC, Chung WH, Cibotti RR, Dodiuk-Gad RP, Grimstein C, Hasegawa A, Hoofnagle JH, Hung SI, Kaffenberger B, Kroshinsky D, Lehloenya RJ, Martin-Pozo M, Micheletti RG, Mockenhaupt M, Nagao K, Pakala S, Palubinsky A, Pasieka HB, Peter J, Pirmohamed M, Reyes M, Saeed HN, Shupp J, Sukasem C, Syu JY, Ueta M, Zhou L, Chang WC, Becker P, Bellon T, Bonnet K, Cavalleri G, Chodosh J, Dewan AK, Dominguez A, Dong X, Ezhkova E, Fuchs E, Goldman J, Himed S, Mallal S, Markova A, McCawley K, Norton AE, Ostrov D, Phan M, Sanford A, Schlundt D, Schneider D, Shear N, Shinkai K, Tkaczyk E, Trubiano JA, Volpi S, Bouchard CS, Divito SJ, Phillips EJ. Marks ME, et al. Among authors: cavalleri g. Front Med (Lausanne). 2023 Oct 11;10:1213889. doi: 10.3389/fmed.2023.1213889. eCollection 2023. Front Med (Lausanne). 2023. PMID: 37901413 Free PMC article. Review.
Familial Variability of Disease Severity in Adult Patients With ADPKD.
Elhassan EAE, O'Kelly P, Collins KE, Teltsh O, Ciurli F, Murray SL, Kennedy C, Madden SF, Benson KA, Cavalleri GL, Conlon PJ. Elhassan EAE, et al. Kidney Int Rep. 2023 Dec 12;9(3):649-660. doi: 10.1016/j.ekir.2023.12.002. eCollection 2024 Mar. Kidney Int Rep. 2023. PMID: 38481516 Free PMC article.
The Newfoundland and Labrador mosaic founder population descends from an Irish and British diaspora from 300 years ago.
Gilbert E, Zurel H, MacMillan ME, Demiriz S, Mirhendi S, Merrigan M, O'Reilly S, Molloy AM, Brody LC, Bodmer W, Leach RA, Scott REM, Mugford G, Randhawa R, Stephens JC, Symington AL, Cavalleri GL, Phillips MS. Gilbert E, et al. Among authors: cavalleri gl. Commun Biol. 2023 Apr 28;6(1):469. doi: 10.1038/s42003-023-04844-9. Commun Biol. 2023. PMID: 37117635 Free PMC article.
Polygenic burden in focal and generalized epilepsies.
Leu C, Stevelink R, Smith AW, Goleva SB, Kanai M, Ferguson L, Campbell C, Kamatani Y, Okada Y, Sisodiya SM, Cavalleri GL, Koeleman BPC, Lerche H, Jehi L, Davis LK, Najm IM, Palotie A, Daly MJ, Busch RM; Epi25 Consortium; Lal D. Leu C, et al. Brain. 2019 Nov 1;142(11):3473-3481. doi: 10.1093/brain/awz292. Brain. 2019. PMID: 31608925 Free PMC article.
Donor genetic burden for cerebrovascular risk and kidney transplant outcome.
Collins KE, Gilbert E, Mauduit V, Benson KA, Elhassan EAE, O'Seaghdha C, Hill C, McKnight AJ, Maxwell AP, van der Most PJ, de Borst MH, Guan W, Jacobson PA, Israni AK, Keating BJ, Lord GM, Markkinen S, Helanterä I, Hyvärinen K, Partanen J, Madden SF, Limou S, Cavalleri GL, Conlon PJ. Collins KE, et al. Among authors: cavalleri gl. J Nephrol. 2024 Jul;37(6):1643-1652. doi: 10.1007/s40620-024-01973-0. Epub 2024 May 29. J Nephrol. 2024. PMID: 38809363 Free PMC article.
Corroborating written history with ancient DNA: The case of the Well-man described in an Old Norse saga.
Ellegaard MR, Ebenesersdóttir SS, Moore KHS, Petersén A, Vågene ÅJ, Bieker VC, Denham SD, Cavalleri GL, Gilbert E, Werge T, Hansen TF, Kockum I, Alfredsson L, Olsson T, Hovig E, Gilbert MTP, Stefánsson K, Stenøien HK, Helgason A, Martin MD. Ellegaard MR, et al. Among authors: cavalleri gl. iScience. 2024 Oct 25;27(11):111076. doi: 10.1016/j.isci.2024.111076. eCollection 2024 Nov 15. iScience. 2024. PMID: 39620136 Free PMC article.
Characterization of Y chromosome diversity in newfoundland and labrador: evidence for a structured founding population.
Zurel H, Bhérer C, Batten R, MacMillan ME, Demiriz S, Mirhendi S, Gilbert E, Cavalleri GL, Leach RA, Scott REM, Mugford G, Randhawa R, Symington AL, Stephens JC, Phillips MS. Zurel H, et al. Among authors: cavalleri gl. Eur J Hum Genet. 2025 Jan;33(1):98-107. doi: 10.1038/s41431-024-01719-3. Epub 2024 Oct 29. Eur J Hum Genet. 2025. PMID: 39472688 Free PMC article.
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
Big data research is everyone's research-Making epilepsy data science accessible to the global community: Report of the ILAE big data commission.
Josephson CB, Aronica E, Beniczky S, Boyce D, Cavalleri G, Denaxas S, French J, Jehi L, Koh H, Kwan P, McDonald C, Mitchell JW, Rampp S, Sadleir L, Sisodiya SM, Wang I, Wiebe S, Yasuda C, Youngerman B; ILAE Big Data Commission. Josephson CB, et al. Among authors: cavalleri g. Epileptic Disord. 2024 Dec;26(6):733-752. doi: 10.1002/epd2.20288. Epub 2024 Oct 24. Epileptic Disord. 2024. PMID: 39446076 Free PMC article. Review.
248 results