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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 11. doi: 10.1111/jpc.16547. Online ahead of print. J Paediatr Child Health. 2024. PMID: 38605555
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.
Molecular and clinical presentation of UBA1-mutated myelodysplastic syndromes.
Sirenko M, Bernard E, Creignou M, Domenico D, Farina A, Arango Ossa JE, Kosmider O, Hasserjian RP, Jädersten M, Germing U, Sanz GF, van de Loosdrecht AA, Gurnari C, Follo MY, Thol FR, Zamora L, Pinheiro RF, Pellagatti A, Elias HK, Haase DT, Sander B, Orna E, Zoldan K, Eder LN, Sperr WR, Thalhammer R, Ganster C, Adès L, Tobiasson M, Palomo L, Della Porta MG, Huberman KH, Fenaux P, Belickova M, Savona MR, Klimek V, Santos FPS, Boultwood J, Kotsianidis I, Santini V, Sole F, Platzbecker U, Heuser M, Valent P, Finelli C, Voso MT, Shih LY, Ogawa S, Fontenay M, Jansen JH, Cervera J, Ebert BL, Bejar R, Greenberg PL, Gattermann N, Malcovati L, Cazzola M, Beck DB, Hellstrom-Lindberg ES, Papaemmanuil E. Sirenko M, et al. Among authors: ades l. Blood. 2024 Apr 30:blood.2023023723. doi: 10.1182/blood.2023023723. Online ahead of print. Blood. 2024. PMID: 38687605
Cutaneous clonal mature plasmacytoid dendritic cell dermatosis in patients with myeloid neoplasms.
Mahévas T, Osio A, Larcher L, Clappier E, Kempf W, Adès L, Fenaux P, Sébert M, Delaleu J, Jachiet M, Cordoliani F, Charvet E, Carpentier O, Itzykson RA, Weinborn M, Mardare N, Marco-Bonnet J, de Masson A, Duployez N, Huynh T, Bouaziz JD, Vignon-Pennamen MD, Battistella M. Mahévas T, et al. Among authors: ades l. Blood Adv. 2024 Apr 12:bloodadvances.2023012489. doi: 10.1182/bloodadvances.2023012489. Online ahead of print. Blood Adv. 2024. PMID: 38621250 No abstract available.
Accelerated DNA replication fork speed due to loss of R-loops in myelodysplastic syndromes with SF3B1 mutation.
Rombaut D, Lefèvre C, Rached T, Bondu S, Letessier A, Mangione RM, Farhat B, Lesieur-Pasquier A, Castillo-Guzman D, Boussaid I, Friedrich C, Tourville A, De Carvalho M, Levavasseur F, Leduc M, Le Gall M, Battault S, Temple M, Houy A, Bouscary D, Willems L, Park S, Raynaud S, Cluzeau T, Clappier E, Fenaux P, Adès L, Margueron R, Wassef M, Alsafadi S, Chapuis N, Kosmider O, Solary E, Constantinou A, Stern MH, Droin N, Palancade B, Miotto B, Chédin F, Fontenay M. Rombaut D, et al. Among authors: ades l. Nat Commun. 2024 Apr 8;15(1):3016. doi: 10.1038/s41467-024-46547-7. Nat Commun. 2024. PMID: 38589367 Free PMC article.
374 results