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Page 1
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.
Holt RJ, Young RM, Crespo B, Ceroni F, Curry CJ, Bellacchio E, Bax DA, Ciolfi A, Simon M, Fagerberg CR, van Binsbergen E, De Luca A, Memo L, Dobyns WB, Mohammed AA, Clokie SJH, Zazo Seco C, Jiang YH, Sørensen KP, Andersen H, Sullivan J, Powis Z, Chassevent A, Smith-Hicks C, Petrovski S, Antoniadi T, Shashi V, Gelb BD, Wilson SW, Gerrelli D, Tartaglia M, Chassaing N, Calvas P, Ragge NK. Holt RJ, et al. Among authors: crespo b. Am J Hum Genet. 2019 Sep 5;105(3):640-657. doi: 10.1016/j.ajhg.2019.07.005. Epub 2019 Aug 8. Am J Hum Genet. 2019. PMID: 31402090 Free PMC article.
ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency.
McGlacken-Byrne SM, Le Quesne Stabej P, Del Valle I, Ocaka L, Gagunashvili A, Crespo B, Moreno N, James C, Bacchelli C, Dattani MT, Williams HJ, Kelberman D, Achermann JC, Conway GS. McGlacken-Byrne SM, et al. Among authors: crespo b. J Clin Endocrinol Metab. 2022 Jan 1;107(1):e254-e263. doi: 10.1210/clinem/dgab597. J Clin Endocrinol Metab. 2022. PMID: 34402903 Free PMC article.
Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency.
McGlacken-Byrne SM, Del Valle I, Quesne Stabej PL, Bellutti L, Garcia-Alonso L, Ocaka LA, Ishida M, Suntharalingham JP, Gagunashvili A, Ogunbiyi OK, Mistry T, Buonocore F; GOSgene; Crespo B, Moreno N, Niola P, Brooks T, Brain CE, Dattani MT, Kelberman D, Vento-Tormo R, Lagos CF, Livera G, Conway GS, Achermann JC. McGlacken-Byrne SM, et al. Among authors: crespo b. JCI Insight. 2022 Mar 8;7(5):e154671. doi: 10.1172/jci.insight.154671. JCI Insight. 2022. PMID: 35138268 Free PMC article.
Single-cell roadmap of human gonadal development.
Garcia-Alonso L, Lorenzi V, Mazzeo CI, Alves-Lopes JP, Roberts K, Sancho-Serra C, Engelbert J, Marečková M, Gruhn WH, Botting RA, Li T, Crespo B, van Dongen S, Kiselev VY, Prigmore E, Herbert M, Moffett A, Chédotal A, Bayraktar OA, Surani A, Haniffa M, Vento-Tormo R. Garcia-Alonso L, et al. Among authors: crespo b. Nature. 2022 Jul;607(7919):540-547. doi: 10.1038/s41586-022-04918-4. Epub 2022 Jul 6. Nature. 2022. PMID: 35794482 Free PMC article.
Transcriptome-Wide Analysis Reveals a Role for Extracellular Matrix and Integrin Receptor Genes in Otic Neurosensory Differentiation from Human iPSCs.
Johnson Chacko L, Lahlou H, Steinacher C, Assou S, Messat Y, Dudás J, Edge A, Crespo B, Crosier M, Sergi C, Schrott-Fischer A, Zine A. Johnson Chacko L, et al. Among authors: crespo b. Int J Mol Sci. 2021 Oct 7;22(19):10849. doi: 10.3390/ijms221910849. Int J Mol Sci. 2021. PMID: 34639189 Free PMC article.
Gonadotropins in European sea bass: Endocrine roles and biotechnological applications.
Mazón MJ, Molés G, Rocha A, Crespo B, Lan-Chow-Wing O, Espigares F, Muñoz I, Felip A, Carrillo M, Zanuy S, Gómez A. Mazón MJ, et al. Among authors: crespo b. Gen Comp Endocrinol. 2015 Sep 15;221:31-41. doi: 10.1016/j.ygcen.2015.05.002. Epub 2015 May 19. Gen Comp Endocrinol. 2015. PMID: 26002037 Review.
83 results