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Page 1
Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi-based consensus survey of international experts.
Neves R, De Dios Perez B, Panek R, Jagani S, Wilne S, Bhatt JM, Caputi C, Cirillo E, Coman DJ, Dückers G, Gilbert DL, Kay Koenig M, Mansour L, McDermott E, Pauni M, Pignata C, Perlman SL, Porras O, Betina Porto M, Schon K, Soler-Palacin P, Nick Russo S, Takagi M, Tischkowitz M, Wainwright C, Dandapani M, Glazebrook C, Suri M, Whitehouse WP, Dineen RA. Neves R, et al. Among authors: suri m. Cancer Med. 2023 Jul;12(13):14663-14673. doi: 10.1002/cam4.6075. Epub 2023 Jun 2. Cancer Med. 2023. PMID: 37264737 Free PMC article.
Whole-body MRI for cancer surveillance in ataxia-telangiectasia: A qualitative study of the perspectives of people affected by A-T and their families.
Neves R, Perez BD, Tindall T, Fernandez NS, Panek R, Wilne S, Suri M, Whitehouse W, Jagani S, Dandapani M, Dineen RA, Glazebrook C. Neves R, et al. Among authors: suri m. Health Expect. 2023 Jun;26(3):1358-1367. doi: 10.1111/hex.13756. Epub 2023 Mar 16. Health Expect. 2023. PMID: 36929011 Free PMC article.
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
Wright CF, Campbell P, Eberhardt RY, Aitken S, Perrett D, Brent S, Danecek P, Gardner EJ, Chundru VK, Lindsay SJ, Andrews K, Hampstead J, Kaplanis J, Samocha KE, Middleton A, Foreman J, Hobson RJ, Parker MJ, Martin HC, FitzPatrick DR, Hurles ME, Firth HV; DDD Study. Wright CF, et al. N Engl J Med. 2023 Apr 27;388(17):1559-1571. doi: 10.1056/NEJMoa2209046. Epub 2023 Apr 12. N Engl J Med. 2023. PMID: 37043637 Free PMC article.
The psychosocial impact of prostate cancer screening for BRCA1 and BRCA2 carriers.
Bancroft EK, Page EC, Brook MN, Pope J, Thomas S, Myhill K, Helfand BT, Talaty P, Ong KR, Douglas E, Cook J, Rosario DJ, Salinas M, Buys SS, Anson J, Davidson R, Longmuir M, Side L, Eccles DM, Tischkowitz M, Taylor A, Cruellas M, Ballestero EP, Cleaver R, Varughese M, Barwell J, LeButt M, Greenhalgh L, Hart R, Azzabi A, Jobson I, Cogley L, Evans DG, Rothwell J, Taylor N, Hogben M, Saya S; IMPACT Study Steering Committee; IMPACT Collaborators; Eeles RA, Aaronson NK. Bancroft EK, et al. BJU Int. 2024 Sep;134(3):484-500. doi: 10.1111/bju.16432. Epub 2024 Jun 5. BJU Int. 2024. PMID: 38839570
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.
Cali E, Quirin T, Rocca C, Efthymiou S, Riva A, Marafi D, Zaki MS, Suri M, Dominguez R, Elbendary HM, Alavi S, Abdel-Hamid MS, Morsy H, Mau-Them FT, Nizon M, Tesner P, Ryba L, Zafar F, Rana N, Saadi NW, Firoozfar Z, Gencpinar P, Unay B, Ustun C, Bruel AL, Coubes C, Stefanich J, Sezer O, Agolini E, Novelli A, Vasco G, Lettori D, Milh M, Villard L, Zeidler S, Opperman H, Strehlow V, Issa MY, El Khassab H, Chand P, Ibrahim S, Nejad-Rashidi A, Miryounesi M, Larki P, Morrison J, Cristian I, Thiffault I, Bertsch NL, Noh GJ, Pappas J, Moran E, Marinakis NM, Traeger-Synodinos J, Hosseini S, Abbaszadegan MR, Caumes R, Vissers LELM, Neshatdoust M, Montazer MZ, El Fahime E, Canavati C, Kamal L, Kanaan M, Askander O, Voinova V, Levchenko O, Haider S, Halbach SS, Maia ER, Mansoor S, Vivek J, Tawde S, Santhosh R Challa V, Gowda VK, Srinivasan VM, Victor LA, Pinero-Banos B, Hague J, Ei-Awady HA, Maria de Miranda Henriques-Souza A, Cheema HA, Anjum MN, Idkaidak S, Alqarajeh F, Atawneh O, Mor-Shaked H, Harel T, Zifarelli G, Bauer P, Kok F, Kitajima JP, Monteiro F, Josahkian J, Lesca G, Chatron N, Ville D, Murphy D, Neul JL, Mullegama SV, Begtrup A, Herman I, Mitani T, Posey JE, Tay CG, Jave… See abstract for full author list ➔ Cali E, et al. Among authors: suri m. Genet Med. 2024 Sep 10:101251. doi: 10.1016/j.gim.2024.101251. Online ahead of print. Genet Med. 2024. PMID: 39275948 Free article.
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.
Lin SJ, Vona B, Lau T, Huang K, Zaki MS, Aldeen HS, Karimiani EG, Rocca C, Noureldeen MM, Saad AK, Petree C, Bartolomaeus T, Abou Jamra R, Zifarelli G, Gotkhindikar A, Wentzensen IM, Liao M, Cork EE, Varshney P, Hashemi N, Mohammadi MH, Rad A, Neira J, Toosi MB, Knopp C, Kurth I, Challman TD, Smith R, Abdalla A, Haaf T, Suri M, Joshi M, Chung WK, Moreno-De-Luca A, Houlden H, Maroofian R, Varshney GK. Lin SJ, et al. Among authors: suri m. Genome Med. 2023 Nov 29;15(1):102. doi: 10.1186/s13073-023-01258-4. Genome Med. 2023. PMID: 38031187 Free PMC article.
A PSA SNP associates with cellular function and clinical outcome in men with prostate cancer.
Srinivasan S, Kryza T, Bock N, Tse BWC, Sokolowski KA, Janaththani P, Fernando A, Moya L, Stephens C, Dong Y, Röhl J, Alinezhad S, Vela I, Perry-Keene JL, Buzacott K, Nica R; IMPACT Study; Gago-Dominguez M; PROFILE Study Steering Committee; Schleutker J, Maier C, Muir K, Tangen CM, Gronberg H, Pashayan N, Albanes D, Wolk A, Stanford JL, Berndt SI, Mucci LA, Koutros S, Cussenot O, Sorensen KD, Grindedal EM, Travis RC, Haiman CA, MacInnis RJ, Vega A, Wiklund F, Neal DE, Kogevinas M, Penney KL, Nordestgaard BG, Brenner H, John EM, Gamulin M, Claessens F, Melander O, Dahlin A, Stattin P, Hallmans G, Häggström C, Johansson R, Thysell E, Rönn AC, Li W, Brown N, Dimeski G, Shepherd B, Dadaev T, Brook MN, Spurdle AB, Stenman UH, Koistinen H, Kote-Jarai Z, Klein RJ, Lilja H, Ecker RC, Eeles R; Practical Consortium; Australian Prostate Cancer BioResource; Clements J, Batra J. Srinivasan S, et al. Nat Commun. 2024 Nov 6;15(1):9587. doi: 10.1038/s41467-024-52472-6. Nat Commun. 2024. PMID: 39505858 Free PMC article.
Ophthalmic manifestations of Czech dysplasia.
Soh Z, Martin H, Richards AJ, Suri M, Snead MP. Soh Z, et al. Among authors: suri m. Am J Med Genet A. 2024 Apr;194(4):e63480. doi: 10.1002/ajmg.a.63480. Epub 2023 Nov 19. Am J Med Genet A. 2024. PMID: 37982325
Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder.
Maroofian R, Zamani M, Kaiyrzhanov R, Liebmann L, Karimiani EG, Vona B, Huebner AK, Calame DG, Misra VK, Sadeghian S, Azizimalamiri R, Mohammadi MH, Zeighami J, Heydaran S, Toosi MB, Akhondian J, Babaei M, Hashemi N, Schnur RE, Suri M, Setzke J, Wagner M, Brunet T, Grochowski CM, Emrick L, Chung WK, Hellmich UA, Schmidts M, Lupski JR, Galehdari H, Severino M, Houlden H, Hübner CA. Maroofian R, et al. Among authors: suri m. Genet Med. 2024 Mar;26(3):101034. doi: 10.1016/j.gim.2023.101034. Epub 2023 Dec 3. Genet Med. 2024. PMID: 38054405 Free PMC article.
511 results