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912 results

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Page 1
Excess folic acid intake increases DNA de novo point mutations.
Cao X, Xu J, Lin YL, Cabrera RM, Chen Q, Zhang C, Steele JW, Han X, Gross SS, Wlodarczyk BJ, Lupski JR, Li W, Wang H, Finnell RH, Lei Y. Cao X, et al. Among authors: lupski jr. Cell Discov. 2023 Feb 28;9(1):22. doi: 10.1038/s41421-022-00512-0. Cell Discov. 2023. PMID: 36849450 Free PMC article. No abstract available.
Genomics in Clinical Practice.
Posey JE, Lupski JR. Posey JE, et al. Among authors: lupski jr. N Engl J Med. 2023 Apr 27;388(17):1619-1620. doi: 10.1056/NEJMe2302643. Epub 2023 Apr 12. N Engl J Med. 2023. PMID: 37043638 No abstract available.
An ELF4 hypomorphic variant results in NK cell deficiency.
Salinas SA, Mace EM, Conte MI, Park CS, Li Y, Rosario-Sepulveda JI, Mahapatra S, Moore EK, Hernandez ER, Chinn IK, Reed AE, Lee BJ, Frumovitz A, Gibbs RA, Posey JE, Forbes Satter LR, Thatayatikom A, Allenspach EJ, Wensel TG, Lupski JR, Lacorazza HD, Orange JS. Salinas SA, et al. Among authors: lupski jr. JCI Insight. 2022 Dec 8;7(23):e155481. doi: 10.1172/jci.insight.155481. JCI Insight. 2022. PMID: 36477361 Free PMC article.
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Maroofian R, Kaiyrzhanov R, Cali E, Zamani M, Zaki MS, Ferla M, Tortora D, Sadeghian S, Saadi SM, Abdullah U, Karimiani EG, Efthymiou S, Yeşil G, Alavi S, Al Shamsi AM, Tajsharghi H, Abdel-Hamid MS, Saadi NW, Al Mutairi F, Alabdi L, Beetz C, Ali Z, Toosi MB, Rudnik-Schöneborn S, Babaei M, Isohanni P, Muhammad J, Khan S, Al Shalan M, Hickey SE, Marom D, Elhanan E, Kurian MA, Marafi D, Saberi A, Hamid M, Spaull R, Meng L, Lalani S, Maqbool S, Rahman F, Seeger J, Palculict TB, Lau T, Murphy D, Mencacci NE, Steindl K, Begemann A, Rauch A, Akbas S, Aslanger AD, Salpietro V, Yousaf H, Ben-Shachar S, Ejeskär K, Al Aqeel AI, High FA, Armstrong-Javors AE, Zahraei SM, Seifi T, Zeighami J, Shariati G, Sedaghat A, Asl SN, Shahrooei M, Zifarelli G, Burglen L, Ravelli C, Zschocke J, Schatz UA, Ghavideldarestani M, Kamel WA, Van Esch H, Hackenberg A, Taylor JC, Al-Gazali L, Bauer P, Gleeson JJ, Alkuraya FS, Lupski JR, Galehdari H, Azizimalamiri R, Chung WK, Baig SM, Houlden H, Severino M. Maroofian R, et al. Among authors: lupski jr. Brain. 2023 Dec 1;146(12):5031-5043. doi: 10.1093/brain/awad257. Brain. 2023. PMID: 37517035 Free PMC article.
Case Report: p40 phox deficiency underlying pediatric-onset systemic lupus erythematosus.
Nieto-Patlán A, Fernández Dávila NS, Wang Y, Zelnick M, Muscal E, Curry M, Lupski JR, Holland SM, Yuan B, Kuhns DB, Vogel TP, Chinn IK. Nieto-Patlán A, et al. Among authors: lupski jr. Front Pediatr. 2024 Aug 20;12:1425874. doi: 10.3389/fped.2024.1425874. eCollection 2024. Front Pediatr. 2024. PMID: 39228435 Free PMC article.
Exome sequencing implicates ancestry-related Mendelian variation at SYNE1 in childhood-onset essential hypertension.
Copeland I, Wonkam-Tingang E, Gupta-Malhotra M, Hashmi SS, Han Y, Jajoo A, Hall NJ, Hernandez PP, Lie N, Liu D, Xu J, Rosenfeld J, Haldipur A, Desire Z, Coban-Akdemir ZH, Scott DA, Li Q, Chao HT, Zaske AM, Lupski JR, Milewicz DM, Shete S, Posey JE, Hanchard NA. Copeland I, et al. Among authors: lupski jr. JCI Insight. 2024 May 8;9(9):e172152. doi: 10.1172/jci.insight.172152. JCI Insight. 2024. PMID: 38716726 Free PMC article.
Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome.
Jolly A, Du H, Borel C, Chen N, Zhao S, Grochowski CM, Duan R, Fatih JM, Dawood M, Salvi S, Jhangiani SN, Muzny DM, Koch A, Rouskas K, Glentis S, Deligeoroglou E, Bacopoulou F, Wise CA, Dietrich JE, Van den Veyver IB, Dimas AS, Brucker S, Sutton VR, Gibbs RA, Antonarakis SE, Wu N, Coban-Akdemir ZH, Zhu L, Posey JE, Lupski JR. Jolly A, et al. Among authors: lupski jr. HGG Adv. 2023 Mar 29;4(3):100188. doi: 10.1016/j.xhgg.2023.100188. eCollection 2023 Jul 13. HGG Adv. 2023. PMID: 37124138 Free PMC article.
Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia.
Conte MI, Poli MC, Taglialatela A, Leuzzi G, Chinn IK, Salinas SA, Rey-Jurado E, Olivares N, Veramendi-Espinoza L, Ciccia A, Lupski JR, Aldave Becerra JC, Mace EM, Orange JS. Conte MI, et al. Among authors: lupski jr. JCI Insight. 2022 Nov 8;7(21):e154948. doi: 10.1172/jci.insight.154948. JCI Insight. 2022. PMID: 36345943 Free PMC article.
912 results