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Page 1
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.
Paulet A, Bennett-Ness C, Ageorges F, Trost D, Green A, Goudie D, Jewell R, Kraatari-Tiri M, Piard J, Coubes C, Lam W, Lynch SA, Groeschel S, Ramond F, Fluss J, Fagerberg C, Brasch Andersen C, Varvagiannis K, Kleefstra T, Gérard B, Fradin M, Vitobello A, Tenconi R, Denommé-Pichon AS, Vincent-Devulder A, Haack T, Marsh JA, Laulund LW, Grimmel M, Riess A, de Boer E, Padilla-Lopez S, Bakhtiari S, Ostendorf A, Zweier C, Smol T, Willems M, Faivre L, Scala M, Striano P, Bagnasco I, Koboldt D, Iascone M, Suerink M, Kruer MC, Levy J, Verloes A, Abbott CM, Ruaud L. Paulet A, et al. Among authors: trost d. Eur J Hum Genet. 2024 Sep;32(9):1144-1149. doi: 10.1038/s41431-024-01560-8. Epub 2024 Feb 15. Eur J Hum Genet. 2024. PMID: 38355961
A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort.
Garret P, Chevarin M, Vitobello A, Verdez S, Fournier C, Verloes A, Tisserant E, Vabres P, Prevel O, Philippe C, Denommé-Pichon AS, Bruel AL, Mau-Them FT, Safraou H, Boughalem A, Costa JM, Trost D, Thauvin-Robinet C, Faivre L, Duffourd Y. Garret P, et al. Among authors: trost d. Eur J Hum Genet. 2023 Jul;31(7):761-768. doi: 10.1038/s41431-022-01250-3. Epub 2022 Dec 1. Eur J Hum Genet. 2023. PMID: 36450799 Free PMC article.
Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.
Paulet A, Bennett-Ness C, Ageorges F, Trost D, Green A, Goudie D, Jewell R, Kraatari-Tiri M, Piard J, Coubes C, Lam W, Lynch SA, Groeschel S, Ramond F, Fluss J, Fagerberg C, Brasch Andersen C, Varvagiannis K, Kleefstra T, Gérard B, Fradin M, Vitobello A, Tenconi R, Denommé-Pichon AS, Vincent-Devulder A, Haack T, Marsh JA, Laulund LW, Grimmel M, Riess A, de Boer E, Padilla-Lopez S, Bakhtiari S, Ostendorf A, Zweier C, Smol T, Willems M, Faivre L, Scala M, Striano P, Bagnasco I, Koboldt D, Iascone M, Suerink M, Kruer MC, Levy J, Verloes A, Abbott CM, Ruaud L. Paulet A, et al. Among authors: trost d. Eur J Hum Genet. 2024 Sep;32(9):1191. doi: 10.1038/s41431-024-01606-x. Eur J Hum Genet. 2024. PMID: 38565641 Free article. No abstract available.
Fetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis.
Favier M, Brischoux-Boucher E, Pyle LC, Mottet N, Auber-Lenoir M, Cattin J, Dahlen E, Cabrol C, Arbez-Gindre F, Attié-Bitach T, Boute O, Devisme L, Trost D, Boughalem A, Chitayat D, Prasov L, Chorin O, Rein-Rothschild A, Kassif E, Weissbach T, Hendon LG, Adam MP, Quelin C, Jaillard S, Mary L, Aukema SM, Heijligers M, de Die-Smulders C, Stegmann S, Badalato L, Ben-Yehuda A, Beneteau C, Forey PL, Kuentz P, Piard J. Favier M, et al. Among authors: trost d. Prenat Diagn. 2024 Dec;44(13):1647-1658. doi: 10.1002/pd.6700. Epub 2024 Nov 14. Prenat Diagn. 2024. PMID: 39542847 Free PMC article.
Optical genome mapping identifies a homozygous deletion in the non-coding region of the SCN9A gene in individuals from the same family with congenital insensitivity to pain.
Boughalem A, Ciorna-Monferrato V, Sloboda N, Guegan A, Page F, Zimmer S, Benazra M, Kleinfinger P, Lohmann L, Valduga M, Receveur A, Martin F, Trost D. Boughalem A, et al. Among authors: trost d. Front Genet. 2024 Aug 2;15:1375770. doi: 10.3389/fgene.2024.1375770. eCollection 2024. Front Genet. 2024. PMID: 39156962 Free PMC article.
Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families.
Weber CAM, Krönke N, Volk V, Auber B, Förster A, Trost D, Geffers R, Esmaeilzadeh M, Lalk M, Nabavi A, Samii A, Krauss JK, Feuerhake F, Hartmann C, Wiese B, Brand F, Weber RG. Weber CAM, et al. Among authors: trost d. Acta Neuropathol Commun. 2023 Nov 21;11(1):184. doi: 10.1186/s40478-023-01689-5. Acta Neuropathol Commun. 2023. PMID: 37990341 Free PMC article.
Robust, fully-automated assessment of cerebral perivascular spaces and white matter lesions: a multicentre MRI longitudinal study of their evolution and association with risk of dementia and accelerated brain atrophy.
Barisano G, Iv M, Choupan J, Hayden-Gephart M; Alzheimer’s Disease Neuroimaging Initiative. Barisano G, et al. EBioMedicine. 2024 Dec 24;111:105523. doi: 10.1016/j.ebiom.2024.105523. Online ahead of print. EBioMedicine. 2024. PMID: 39721217 Free article.
Endovascular therapy for cerebral vasospasm after aneurysmal subarachnoid hemorrhage: Single-center experience in a high-volume neurovascular unit.
Albrecht C, Liang R, Trost D, Hostettler I, Renz M, Meyer B, Zimmer C, Kirschke J, Maegerlein C, Bodden J, Lingg C, Wagner A, Boeckh-Behrens T, Wostrack M, Schwarting J. Albrecht C, et al. Among authors: trost d. Brain Spine. 2024 Nov 6;4:104133. doi: 10.1016/j.bas.2024.104133. eCollection 2024. Brain Spine. 2024. PMID: 39582526 Free PMC article.
321 results