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614 results

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Page 1
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.
Aughey GN, Cali E, Maroofian R, Zaki MS, Pagnamenta AT, Ali Z, Abdulllah U, Rahman F, Menzies L, Shafique A, Suri M, Roze E, Aguennouz M, Ghizlane Z, Saadi SM, Fatima A, Cheema HA, Anjum MN, Morel G, Robin S, McFarland R, Altunoglu U, Kraus V, Shoukier M, Murphy D, Flemming K, Yttervik H, Rhouda H, Lesca G, Chatron N, Rossi M, Murtaza BN, Ur Rehman M, Lord J, Giacopuzzi E, Hayat A, Siraj M; SYNAPS Study Group; Badv RS, Seo GH, Beetz C, Kayserili H, Krioulie Y, Chung WK, Naz S, Maqbool S, Chandler K, Kershaw C, Wright T, Banka S, Gleeson JG, Taylor JC, Efthymiou S, Baig SM, Severino M, Jepson JEC, Houlden H. Aughey GN, et al. Brain. 2024 Dec 18:awae363. doi: 10.1093/brain/awae363. Online ahead of print. Brain. 2024. PMID: 39692517
ARID1B-related disorder in 87 adults: Natural history and self-sustainability.
van der Sluijs PJ, Gösgens M, Dingemans AJM, Striano P, Riva A, Mignot C, Faudet A, Vasileiou G, Walther M, Schrier Vergano SA, Alders M, Alkuraya FS, Alorainy I, Alsaif HS, Anderlid B, Bache I, van Beek I, Blanluet M, van Bon BW, Brunet T, Brunner H, Carriero ML, Charles P, Chatron N, Coccia E, Dubourg C, Earl RK, Eichler EE, Faivre L, Foulds N, Graziano C, Guerrot AM, Hashem MO, Heide S, Heron D, Hickey SE, Hopman SMJ, Kattentidt-Mouravieva A, Kerkhof J, Klein Wassink-Ruiter JS, Kurtz-Nelson EC, Kušíková K, Kvarnung M, Lecoquierre F, Leszinski GS, Loberti L, Magoulas PL, Mari F, Maystadt I, Merla G, Milunsky JM, Moortgat S, Nicolas G, Leary MO', Odent S, Ozmore JR, Parbhoo K, Pfundt R, Piccione M, Pinto AM, Popp B, Putoux A, Rehm HL, Reis A, Renieri A, Rosenfeld JA, Rossi M, Salzano E, Saugier-Veber P, Seri M, Severi G, Sonmez FM, Strobl-Wildemann G, Stuurman KE, Uctepe E, Van Esch H, Vitetta G, de Vries BBA, Wahl D, Wang T, Zacher P, Heitink KR, Ropers FG, Steenbeek D, Rybak T, Santen GWE. van der Sluijs PJ, et al. Among authors: alkuraya fs. Genet Med Open. 2024 Jul 23;2:101873. doi: 10.1016/j.gimo.2024.101873. eCollection 2024. Genet Med Open. 2024. PMID: 39669611 Free PMC article.
Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability.
De Hayr L, Blok LER, Dias KR, Long J, Begemann A, Moir RD, Willis IM, Mocera M, Siegel G, Steindl K, Evans CA, Zhu Y, Zhang F, Field M, Ma A, Adès L, Josephi-Taylor S, Pfundt R, Zaki MS, Tomoum H, Gregor A, Laube J, Reis A, Maddirevula S, Hashem MO, Zweier M, Alkuraya FS, Maroofian R, Buckley MF, Gleeson JG, Zweier C, Coll-Tané M, Koolen DA, Rauch A, Roscioli T, Schenck A, Harvey RJ. De Hayr L, et al. Among authors: alkuraya fs. Genet Med. 2024 Nov 7:101253. doi: 10.1016/j.gim.2024.101253. Online ahead of print. Genet Med. 2024. PMID: 39636576 Free article.
Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome.
Bayam E, Tilly P, Collins SC, Rivera Alvarez J, Kannan M, Tonneau L, Brivio E, Rinaldi B, Lecat R, Schwaller N, Cotellessa L, Maddirevula S, Monteiro F, Guardia CM, Kitajima JP, Kok F, Kato M, Hamed AAA, Salih MA, Al Tala S, Hashem MO, Tada H, Saitsu H, Stabile M, Giacobini P, Friant S, Yüksel Z, Nakashima M, Alkuraya FS, Yalcin B, Godin JD. Bayam E, et al. Among authors: alkuraya fs. EMBO Mol Med. 2024 Nov 28. doi: 10.1038/s44321-024-00178-z. Online ahead of print. EMBO Mol Med. 2024. PMID: 39609633 Free article.
IDEDNIK Syndrome.
Alsaif HS, Alkuraya FS. Alsaif HS, et al. Among authors: alkuraya fs. 2024 Nov 14. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2024 Nov 14. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 39541497 Free Books & Documents. Review.
Arab founder variants: Contributions to clinical genomics and precision medicine.
AlAbdi L, Maddirevula S, Aljamal B, Hamid H, Almulhim A, Hashem MO, Algoos Y, Alqahtani M, Albaloshi S, Alghamdi M, Alduaylij M, Shamseldin HE, Nadeef S, Patel N, Abdulwahab F, Abouyousef O, Alshidi T, Jaafar A, Abouelhoda M; Saudi Mendeliome Group; Alhazzani A, Alfares A, Qudair A, Alsulaiman A, Alhashem A, Khan AO, Chedrawi A, Alebdi B, AlAjlan F, Alotaibi F, Alzaidan H, Banjar H, Abdelraouf H, Alkuraya H, Abumansour I, Alfayez K, Tulbah M, Alowain M, Alqahtani M, El-Kalioby M, Shboul M, Sulaiman R, Al Tala S, Khan S, Coskun S, Mrouge S, Alenazi W, Rahbeeni Z, Alkuraya FS. AlAbdi L, et al. Among authors: alkuraya fs. Med. 2024 Nov 1:S2666-6340(24)00403-3. doi: 10.1016/j.medj.2024.10.005. Online ahead of print. Med. 2024. PMID: 39504961
Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia.
Barish S, Lin SJ, Maroofian R, Gezdirici A, Alhebby H, Trimouille A, Biderman Waberski M, Mitani T, Huber I, Tveten K, Holla ØL, Busk ØL, Houlden H, Ghayoor Karimiani E, Beiraghi Toosi M, Shervin Badv R, Najarzadeh Torbati P, Eghbal F, Akhondian J, Al Safar A, Alswaid A, Zifarelli G, Bauer P, Marafi D, Fatih JM, Huang K, Petree C, Calame DG, von der Lippe C, Alkuraya FS, Wali S, Lupski JR, Varshney GK, Posey JE, Pehlivan D. Barish S, et al. Among authors: alkuraya fs. Am J Hum Genet. 2024 Nov 7;111(11):2566-2581. doi: 10.1016/j.ajhg.2024.10.002. Epub 2024 Oct 28. Am J Hum Genet. 2024. PMID: 39471804
Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.
Thomas HB, Demain LAM, Cabrera-Orefice A, Schrauwen I, Shamseldin HE, Rea A, Bharadwaj T, Smith TB, Oláhová M, Thompson K, He L, Kaur N, Shukla A, Abukhalid M, Ansar M, Rehman S, Riazuddin S, Abdulwahab F, Smith JM, Stark Z, Carrera S, Yue WW, Munro KJ, Alkuraya FS, Jamieson P, Ahmed ZM, Leal SM, Taylor RW, Wittig I, O'Keefe RT, Newman WG. Thomas HB, et al. Among authors: alkuraya fs. medRxiv [Preprint]. 2024 Oct 11:2024.10.10.24315152. doi: 10.1101/2024.10.10.24315152. medRxiv. 2024. PMID: 39417135 Free PMC article. Preprint.
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum.
Calame DG, Wong JH, Panda P, Nguyen DT, Leong NCP, Sangermano R, Patankar SG, Abdel-Hamid MS, AlAbdi L, Safwat S, Flannery KP, Dardas Z, Fatih JM, Murali C, Kannan V, Lotze TE, Herman I, Ammouri F, Rezich B, Efthymiou S, Alavi S, Murphy D, Firoozfar Z, Nasab ME, Bahreini A, Ghasemi M, Haridy NA, Goldouzi HR, Eghbal F, Karimiani EG, Begtrup A, Elloumi H, Srinivasan VM, Gowda VK, Du H, Jhangiani SN, Coban-Akdemir Z, Marafi D, Rodan L, Isikay S, Rosenfeld JA, Ramanathan S, Staton M, Oberg KC, Clark RD, Wenman C, Loughlin S, Saad R, Ashraf T, Male A, Tadros S, Boostani R, Abdel-Salam GMH, Zaki M, Mardi A, Hashemi-Gorji F, Abdalla E, Manzini MC, Pehlivan D, Posey JE, Gibbs RA, Houlden H, Alkuraya FS, Bujakowska K, Maroofian R, Lupski JR, Nguyen LN. Calame DG, et al. Among authors: alkuraya fs. Genet Med. 2024 Sep 19:101273. doi: 10.1016/j.gim.2024.101273. Online ahead of print. Genet Med. 2024. PMID: 39306721
614 results