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Search life-sciences literature (45,100,050 articles, preprints and more)

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A framework for N-of-1 trials of individualized gene-targeted therapies for genetic diseases.
Kim-McManus O, Gleeson JG, Mignon L, Smith Fine A, Yan W, Nolen N, Demarest S, Berry-Kravis E, Finkel R, Leonard S, Finlayson S, Augustine E, Lyon GJ, Schule R, Yu T
Nat Commun, 15(1):9802, 12 Nov 2024
Cited by: 0 articles | PMID: 39532857 | PMCID: PMC11557703
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Genomic mosaicism reveals developmental organization of trunk neural crest-derived ganglia
Vong KI, Alvarez YD, Noel G, Barton ST, Chung C, Howarth R, Meave N, Zhang Q, Jiwani F, Barrows C, Patel A, Wang JX, Chi N, Kingsmore SF, White MD, Yang X, Gleeson JG
bioRxiv, 26 Sep 2024
Cited by: 0 articles | PPR: PPR915981
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Clinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related Dystrophy.
Sharaf-Eldin WE, Rafat K, Issa MY, Elbendary HM, Eissa NR, Hawaary B, Gaboon NEA, Maroofian R, Gleeson JG, Essawi ML, Zaki MS
J Mol Neurosci, 74(4):93, 05 Oct 2024
Cited by: 0 articles | PMID: 39367186 | PMCID: PMC11452470
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Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis.
Cogan G, Zaki MS, Issa M, Keren B, Guillaud-Bataille M, Renaldo F, Isapof A, Lallemant P, Stevanin G, Guillot-Noel L, Courtin T, Buratti J, Freihuber C, Gleeson JG, Howarth R, Durr A, de Sainte Agathe JM, Mignot C
Hum Genet, 143(11):1353-1362, 04 Oct 2024
Cited by: 0 articles | PMID: 39367212
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Treating the Untreatable: Antisense Oligonucleotides as an Individualized Therapy for Rare Genetic Kidney Diseases.
Tekendo-Ngongang C, Gleeson JG, Mignon L
J Am Soc Nephrol, 27 Sep 2024
Cited by: 0 articles | PMID: 39331470
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Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder.
Rawlins LE, Maroofian R, Cannon SJ, Daana M, Zamani M, Ghani S, Leslie JS, Ubeyratna N, Khan N, Khan H, Scardamaglia A, Cloarec R, Khan SA, Umair M, Sadeghian S, Galehdari H, Al-Maawali A, Al-Kindi A, Azizimalamiri R, [...] Crosby AH
Genet Med, 101278, 20 Sep 2024
Cited by: 0 articles | PMID: 39315527
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Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.
Banks E, Francis V, Lin SJ, Kharfallah F, Fonov V, Lévesque M, Han C, Kulasekaran G, Tuznik M, Bayati A, Al-Khater R, Alkuraya FS, Argyriou L, Babaei M, Bahlo M, Bakhshoodeh B, Barr E, Bartik L, Bassiony M, [...] McPherson PS
Nat Commun, 15(1):7239, 22 Aug 2024
Cited by: 0 articles | PMID: 39174524 | PMCID: PMC11341845
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Clinical and neuroradiological spectrum of biallelic variants in NOTCH3.
Iruzubieta P, Alves CAPF, Al Shamsi AM, ElGhazali G, Zaki MS, Pinelli L, Lopergolo D, Cho BPH, Jolly AA, Al Futaisi A, Al-Amrani F, Galli J, Fazzi E, Vulin K, Barajas-Olmos F, Hengel H, Aljamal BM, Nasr V, Assarzadegan F, [...] Maroofian R
EBioMedicine, 107:105297, 26 Aug 2024
Cited by: 0 articles | PMID: 39191170 | PMCID: PMC11400611
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Antisense oligonucleotide therapy in an individual with KIF1A-associated neurological disorder.
Ziegler A, Carroll J, Bain JM, Sands TT, Fee RJ, Uher D, Kanner CH, Montes J, Glass S, Douville J, Mignon L, Gleeson JG, Crooke ST, Chung WK
Nat Med, 30(10):2782-2786, 09 Aug 2024
Cited by: 0 articles | PMID: 39122967
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Genotypic and phenotypic analysis of 173 patients with extremely rare pathogenic mutations who applied for experimental antisense oligonucleotide treatment
Crooke ST, Cole T, Carroll JB, Gleeson JG, Mignon L, Douville J, Chung W, Bain J, Berry-Kravis E, Leung N, Watt A, Powers B, Tekendo-Ngongang C, Kmoch S, Vyletal P, Glass S
medRxiv, 06 Aug 2024
Cited by: 0 articles | PPR: PPR891175
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Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a syndromic neurodevelopmental disorder
Efthymiou S, Leo CP, Deng C, Zhang K, Lin S, Maroofian R, Kaiyrzhanov R, Lin R, Karagoz I, Scardamaglia A, Owrang D, Turchetti V, Jahnke F, Petree C, Derrick AV, Rees MI, Alvi JR, Sultan T, Li C, [...] Fu D
medRxiv, 22 Jul 2024
Cited by: 0 articles | PPR: PPR884719
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Genome Sequencing for Diagnosing Rare Diseases.
Wojcik MH, Lemire G, Berger E, Zaki MS, Wissmann M, Win W, White SM, Weisburd B, Wieczorek D, Waddell LB, Verboon JM, VanNoy GE, Töpf A, Tan TY, Syrbe S, Strehlow V, Straub V, Stenton SL, Snow H, [...] O'Donnell-Luria A
N Engl J Med, 390(21):1985-1997, 01 Jun 2024
Cited by: 7 articles | PMID: 38838312
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Mapping recurrent mosaic copy number variation in human neurons.
Sun C, Kathuria K, Emery SB, Kim B, Burbulis IE, Shin JH, Brain Somatic Mosaicism Network, Weinberger DR, Moran JV, Kidd JM, Mills RE, McConnell MJ
Nat Commun, 15(1):4220, 17 May 2024
Cited by: 2 articles | PMID: 38760338
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Risk of meningomyelocele mediated by the common 22q11.2 deletion.
Vong KI, Lee S, Au KS, Crowley TB, Capra V, Martino J, Haller M, Araújo C, Machado HR, George R, Gerding B, James KN, Stanley V, Jiang N, Alu K, Meave N, Nidhiry AS, Jiwani F, Tang I, [...] Gleeson JG
Science, 384(6695):584-590, 02 May 2024
Cited by: 1 article | PMID: 38696583
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Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.
Cavusoglu D, Ozturk G, Turkdogan D, Kurul SH, Yis U, Komur M, Incecik F, Kara B, Sahin T, Unver O, Dilber C, Mert GG, Gunay C, Uzan GS, Ersoy O, Oktay Y, Mermer S, Tuncer GO, Gungor O, [...] Sonmez FM
Cerebellum, 23(5):1950-1965, 15 Apr 2024
Cited by: 0 articles | PMID: 38622473 | PMCID: PMC11489189
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Cell-type-resolved mosaicism reveals clonal dynamics of the human forebrain.
Chung C, Yang X, Hevner RF, Kennedy K, Vong KI, Liu Y, Patel A, Nedunuri R, Barton ST, Noel G, Barrows C, Stanley V, Mittal S, Breuss MW, Schlachetzki JCM, Kingsmore SF, Gleeson JG
Nature, 629(8011):384-392, 10 Apr 2024
Cited by: 6 articles | PMID: 38600385 | PMCID: PMC11194162
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Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
Lemire G, Sanchis-Juan A, Russell K, Baxter S, Chao KR, Singer-Berk M, Groopman E, Wong I, England E, Goodrich J, Pais L, Austin-Tse C, DiTroia S, O'Heir E, Ganesh VS, Wojcik MH, Evangelista E, Snow H, Osei-Owusu I, [...] O'Donnell-Luria A
Am J Hum Genet, 111(5):863-876, 01 Apr 2024
Cited by: 0 articles | PMID: 38565148 | PMCID: PMC11080278
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Neurodevelopmental disorders associated variants inADAT3disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migration
Del-Pozo-Rodriguez J, Tilly P, Lecat R, Vaca HR, Mosser L, Balla T, Gomes MV, Ramos-Morales E, Brivio E, Salinas-Giégé T, VanNoy G, England EM, Lovgren AK, O’Leary M, Chopra M, Gable D, Alnuzha A, Kamel M, Almenabawy N, [...] Godin JD
medRxiv, 05 Mar 2024
Cited by: 0 articles | PPR: PPR813923
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The contribution of de novo coding mutations to meningomyelocele
Ha Y, Tang I, Nisal A, Jhamb I, Wallace C, Schroeder S, Lee C, Vong Kl, Meave N, Jiwani F, Barrows C, Lee S, Jiang N, Patel A, Blanco FA, Yu S, Jeong HS, Plutzer I, Major MB, [...] Gleeson JG
medRxiv, 02 Mar 2024
Cited by: 0 articles | PPR: PPR814013
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The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.
Elkhateeb N, Issa MY, Elbendary HM, Elnaggar W, Ramadan A, Rafat K, Kamel M, Abdel-Ghafar SF, Amer F, Hassaan HM, Trunzo R, Pereira C, Abdel-Hamid MS, D'Arco F, Bauer P, Bertoli-Avella AM, Girgis M, Gleeson JG, Zaki MS, Selim L
Clin Genet, 105(5):510-522, 14 Jan 2024
Cited by: 1 article | PMID: 38221827
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Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseases.
Garrison MA, Jang Y, Bae T, Cherskov A, Emery SB, Fasching L, Jones A, Moldovan JB, Molitor C, Pochareddy S, Peters MA, Shin JH, Wang Y, Yang X, Akbarian S, Chess A, Gage FH, Gleeson JG, Kidd JM, [...] BSMN Consortium
Sci Data, 10(1):813, 20 Nov 2023
Cited by: 1 article | PMID: 37985666 | PMCID: PMC10662356
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Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.
Engal E, Oja KT, Maroofian R, Geminder O, Le TL, Marzin P, Guimier A, Mor E, Zvi N, Elefant N, Zaki MS, Gleeson JG, Muru K, Pajusalu S, Wojcik MH, Pachat D, Elmaksoud MA, Chan Jeong W, Lee H, [...] Mor-Shaked H
Am J Hum Genet, 110(12):2112-2119, 13 Nov 2023
Cited by: 2 articles | PMID: 37963460 | PMCID: PMC10716347
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Cell-type-resolved somatic mosaicism reveals clonal dynamics of the human forebrain
Chung C, Yang X, Hevner RF, Kennedy K, Vong KI, Liu Y, Patel A, Nedunuri R, Barton ST, Barrows C, Stanley V, Mittal S, Breuss MW, Schlachetzki JCM, Gleeson JG
bioRxiv, 25 Oct 2023
Cited by: 0 articles | PPR: PPR747479
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SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.
Fasham J, Huebner AK, Liebmann L, Khalaf-Nazzal R, Maroofian R, Kryeziu N, Wortmann SB, Leslie JS, Ubeyratna N, Mancini GMS, van Slegtenhorst M, Wilke M, Haack TB, Shamseldin HE, Gleeson JG, Almuhaizea M, Dweikat I, Abu-Libdeh B, Daana M, [...] Hübner CA
Brain, 146(11):4547-4561, 01 Nov 2023
Cited by: 3 articles | PMID: 37459438 | PMCID: PMC10629776
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Post-zygotic brain mosaicism as a result of partial reversion of pre-zygotic aneuploidy.
Chung C, Yang X, Gleeson JG
Nat Genet, 55(11):1784-1785, 01 Nov 2023
Cited by: 2 articles | PMID: 37872451 | PMCID: PMC10842191
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