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377 results

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Page 1
Macrocephaly and developmental delay caused by missense variants in RAB5C.
Koop K, Yuan W, Tessadori F, Rodriguez-Polanco WR, Grubbs J, Zhang B, Osmond M, Graham G, Sawyer S, Conboy E, Vetrini F, Treat K, Płoski R, Pienkowski VM, Kłosowska A, Fieg E, Krier J, Mallebranche C, Alban Z, Aldinger KA, Ritter D, Macnamara E, Sullivan B, Herriges J, Alaimo JT, Helbig C, Ellis CA, van Eyk C, Gecz J, Farrugia D, Osei-Owusu I, Adès L, van den Boogaard MJ, Fuchs S, Bakker J, Duran K, Dawson ZD, Lindsey A, Huang H, Baldridge D, Silverman GA, Grant BD, Raizen D; Undiagnosed Diseases Network; van Haaften G, Pak SC, Rehmann H, Schedl T, van Hasselt P. Koop K, et al. Among authors: ades l. Hum Mol Genet. 2023 Oct 17;32(21):3063-3077. doi: 10.1093/hmg/ddad130. Hum Mol Genet. 2023. PMID: 37552066 Free PMC article.
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
Ebstein F, Küry S, Most V, Rosenfelt C, Scott-Boyer MP, van Woerden GM, Besnard T, Papendorf JJ, Studencka-Turski M, Wang T, Hsieh TC, Golnik R, Baldridge D, Forster C, de Konink C, Teurlings SMW, Vignard V, van Jaarsveld RH, Ades L, Cogné B, Mignot C, Deb W, Jongmans MCJ, Cole FS, van den Boogaard MH, Wambach JA, Wegner DJ, Yang S, Hannig V, Brault JA, Zadeh N, Bennetts B, Keren B, Gélineau AC, Powis Z, Towne M, Bachman K, Seeley A, Beck AE, Morrison J, Westman R, Averill K, Brunet T, Haasters J, Carter MT, Osmond M, Wheeler PG, Forzano F, Mohammed S, Trakadis Y, Accogli A, Harrison R, Guo Y, Hakonarson H, Rondeau S, Baujat G, Barcia G, Feichtinger RG, Mayr JA, Preisel M, Laumonnier F, Kallinich T, Knaus A, Isidor B, Krawitz P, Völker U, Hammer E, Droit A, Eichler EE, Elgersma Y, Hildebrand PW, Bolduc F, Krüger E, Bézieau S. Ebstein F, et al. Among authors: ades l. Sci Transl Med. 2023 May 31;15(698):eabo3189. doi: 10.1126/scitranslmed.abo3189. Epub 2023 May 31. Sci Transl Med. 2023. PMID: 37256937 Free PMC article.
Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
Byrne AB, Arts P, Ha TT, Kassahn KS, Pais LS, O'Donnell-Luria A; Broad Institute Center for Mendelian Genomics; Babic M, Frank MSB, Feng J, Wang P, Lawrence DM, Eshraghi L, Arriola L, Toubia J, Nguyen H; Genomic Autopsy Study Research Network; McGillivray G, Pinner J, McKenzie F, Morrow R, Lipsett J, Manton N, Khong TY, Moore L, Liebelt JE, Schreiber AW, King-Smith SL, Hardy TSE, Jackson MR, Barnett CP, Scott HS. Byrne AB, et al. Nat Med. 2024 Jan;30(1):302. doi: 10.1038/s41591-023-02487-1. Nat Med. 2024. PMID: 37429925 No abstract available.
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.
Dias KR, Shrestha R, Schofield D, Evans CA, O'Heir E, Zhu Y, Zhang F, Standen K, Weisburd B, Stenton SL, Sanchis-Juan A, Brand H, Talkowski ME, Ma A, Ghedia S, Wilson M, Sandaradura SA, Smith J, Kamien B, Turner A, Bakshi M, Adès LC, Mowat D, Regan M, McGillivray G, Savarirayan R, White SM, Tan TY, Stark Z, Brown NJ, Pérez-Jurado LA, Krzesinski E, Hunter MF, Akesson L, Fennell AP, Yeung A, Boughtwood T, Ewans LJ, Kerkhof J, Lucas C, Carey L, French H, Rapadas M, Stevanovski I, Deveson IW, Cliffe C, Elakis G, Kirk EP, Dudding-Byth T, Fletcher J, Walsh R, Corbett MA, Kroes T, Gecz J, Meldrum C, Cliffe S, Wall M, Lunke S, North K, Amor DJ, Field M, Sadikovic B, Buckley MF, O'Donnell-Luria A, Roscioli T. Dias KR, et al. Among authors: ades lc. Genet Med. 2024 May;26(5):101076. doi: 10.1016/j.gim.2024.101076. Epub 2024 Jan 19. Genet Med. 2024. PMID: 38258669
Genomic multidisciplinary teams: A model for navigating genetic mainstreaming and precision medicine.
Ma A, Newing TP, O'Shea R, Gokoolparsadh A, Murdoch E, Hayward J, Shannon G, Kevin L, Bennetts B, Ho G, Smith J, Shah M, Jones KJ, Josephi-Taylor S, Sandaradura SA, Adès L, Jamieson R, Rankin NM. Ma A, et al. Among authors: ades l. J Paediatr Child Health. 2024 Apr-May;60(4-5):118-124. doi: 10.1111/jpc.16547. Epub 2024 Apr 11. J Paediatr Child Health. 2024. PMID: 38605555
Molecular alterations monitoring in myelodysplastic patients receiving an allogeneic hematopoietic stem cell transplantation after a reduced-intensity conditioning regimen.
Robin M, Nibourel O, Tournaire M, Michonneau D, Preudhomme C, Verbanck M, Xhaard A, Adès L, Sicre de Fontbrune F, Sébert M, Fenaux P, Socié G, Peffault de Latour R, Curis E. Robin M, et al. Among authors: ades l. Bone Marrow Transplant. 2024 May 23. doi: 10.1038/s41409-024-02314-2. Online ahead of print. Bone Marrow Transplant. 2024. PMID: 38783124 No abstract available.
Efficacy and safety of targeted therapies in VEXAS syndrome: retrospective study from the FRENVEX.
Hadjadj J, Nguyen Y, Mouloudj D, Bourguiba R, Heiblig M, Aloui H, McAvoy C, Lacombe V, Ardois S, Campochiaro C, Maria A, Coustal C, Comont T, Lazaro E, Lifermann F, Le Guenno G, Lobbes H, Grobost V, Outh R, Campagne J, Dor-Etienne A, Garnier A, Jamilloux Y, Dossier A, Samson M, Audia S, Nicolas B, Mathian A, de Maleprade B, De Sainte-Marie B, Faucher B, Bouaziz JD, Broner J, Dumain C, Antoine C, Carpentier B, Castel B, Lartigau-Roussin C, Crickx E, Volle G, Fayard D, Decker P, Moulinet T, Dumont A, Nguyen A, Aouba A, Martellosio JP, Levavasseur M, Puigrenier S, Antoine P, Giraud JT, Hermine O, Lacout C, Martis N, Karam JD, Chasset F, Arnaud L, Marianetti P, Deligny C, Chazal T, Woaye-Hune P, Roux-Sauvat M, Meyer A, Sujobert P, Hirsch P, Abisror N, Fenaux P, Kosmider O, Jachiet V, Fain O, Terrier B, Mekinian A, Georgin-Lavialle S; FRENVEX. Hadjadj J, et al. Ann Rheum Dis. 2024 May 22:ard-2024-225640. doi: 10.1136/ard-2024-225640. Online ahead of print. Ann Rheum Dis. 2024. PMID: 38777378
Immune-monitoring of myelodysplastic neoplasms: Recommendations from the i4MDS consortium.
Tentori CA, Zhao LP, Tinterri B, Strange KE, Zoldan K, Dimopoulos K, Feng X, Riva E, Lim B, Simoni Y, Murthy V, Hayes MJ, Poloni A, Padron E, Cardoso BA, Cross M, Winter S, Santaolalla A, Patel BA, Groarke EM, Wiseman DH, Jones K, Jamieson L, Manogaran C, Daver N, Gallur L, Ingram W, Ferrell PB, Sockel K, Dulphy N, Chapuis N, Kubasch AS, Olsnes AM, Kulasekararaj A, De Lavellade H, Kern W, Van Hemelrijck M, Bonnet D, Westers TM, Freeman S, Oelschlaegel U, Valcarcel D, Raddi MG, Grønbæk K, Fontenay M, Loghavi S, Santini V, Almeida AM, Irish JM, Sallman DA, Young NS, van de Loosdrecht AA, Adès L, Della Porta MG, Cargo C, Platzbecker U, Kordasti S; i4MDS consortium. Tentori CA, et al. Among authors: ades l. Hemasphere. 2024 May 15;8(5):e64. doi: 10.1002/hem3.64. eCollection 2024 May. Hemasphere. 2024. PMID: 38756352 Free PMC article.
Clinical and Genomic-Based Decision Support System to Define the Optimal Timing of Allogeneic Hematopoietic Stem-Cell Transplantation in Patients With Myelodysplastic Syndromes.
Tentori CA, Gregorio C, Robin M, Gagelmann N, Gurnari C, Ball S, Caballero Berrocal JC, Lanino L, D'Amico S, Spreafico M, Maggioni G, Travaglino E, Sauta E, Meggendorfer M, Zhao LP, Campagna A; GenoMed4All, Synthema, GESMD, FISIM, and EuroBloodNET; Savevski V, Santoro A, Al Ali N, Sallman D, Sole F, Garcia-Manero G, Germing U, Kroger N, Kordasti S, Santini V, Sanz G, Kern W, Platzbecker U, Diez-Campelo M, Maciejewski JP, Ades L, Fenaux P, Haferlach T, Zeidan AM, Castellani G, Komrokji R, Ieva F, Della Porta MG. Tentori CA, et al. Among authors: ades l. J Clin Oncol. 2024 May 9:JCO2302175. doi: 10.1200/JCO.23.02175. Online ahead of print. J Clin Oncol. 2024. PMID: 38723212
Racial Disparities in Blood Pressure at Time of Acute Ischemic Stroke Presentation: A Population Study.
Aziz YN, Sucharew H, Stanton RJ, Alwell K, Ferioli S, Khatri P, Adeoye O, Flaherty ML, Mackey J, De Los Rios La Rosa F, Martini SR, Mistry EA, Coleman E, Jasne AS, Slavin SJ, Walsh K, Star M, Ridha M, Ades LMC, Haverbusch M, Demel SL, Woo D, Kissela BM, Kleindorfer DO. Aziz YN, et al. Among authors: ades lmc. J Am Heart Assoc. 2024 May 7;13(9):e032645. doi: 10.1161/JAHA.123.032645. Epub 2024 May 3. J Am Heart Assoc. 2024. PMID: 38700029 Free article.
377 results