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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2000 2
2001 3
2002 3
2005 2
2007 1
2008 1
2011 1
2012 1
2013 1
2014 3
2015 5
2016 3
2017 4
2018 1
2019 2
2020 1
2021 2
2022 2
2024 0

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33 results

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Page 1
Author reply: To PMID 24480711.
Halford S, Liew G, Mackay DS, Sergouniotis PI, Holt R, Broadgate S, Volpi EV, Ocaka L, Robson AG, Holder GE, Moore AT, Michaelides M, Webster AR. Halford S, et al. Among authors: ocaka l. Ophthalmology. 2015 Apr;122(4):e22. doi: 10.1016/j.ophtha.2014.08.041. Ophthalmology. 2015. PMID: 25797088 No abstract available.
The genetic landscape of crystallins in congenital cataract.
Berry V, Ionides A, Pontikos N, Georgiou M, Yu J, Ocaka LA, Moore AT, Quinlan RA, Michaelides M. Berry V, et al. Among authors: ocaka la. Orphanet J Rare Dis. 2020 Nov 26;15(1):333. doi: 10.1186/s13023-020-01613-3. Orphanet J Rare Dis. 2020. PMID: 33243271 Free PMC article.
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
Oud MM, Tuijnenburg P, Hempel M, van Vlies N, Ren Z, Ferdinandusse S, Jansen MH, Santer R, Johannsen J, Bacchelli C, Alders M, Li R, Davies R, Dupuis L, Cale CM, Wanders RJA, Pals ST, Ocaka L, James C, Müller I, Lehmberg K, Strom T, Engels H, Williams HJ, Beales P, Roepman R, Dias P, Brunner HG, Cobben JM, Hall C, Hartley T, Le Quesne Stabej P, Mendoza-Londono R, Davies EG, de Sousa SB, Lessel D, Arts HH, Kuijpers TW. Oud MM, et al. Among authors: ocaka l. Am J Hum Genet. 2017 Feb 2;100(2):281-296. doi: 10.1016/j.ajhg.2017.01.013. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132690 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: ocaka l. 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: ocaka la. JCI Insight. 2022 Mar 8;7(5):e154671. doi: 10.1172/jci.insight.154671. JCI Insight. 2022. PMID: 35138268 Free PMC article.
A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia.
Whittaker DE, Oleari R, Gregory LC, Le Quesne-Stabej P, Williams HJ; GOSgene; Torpiano JG, Formosa N, Cachia MJ, Field D, Lettieri A, Ocaka LA, Paganoni AJ, Rajabali SH, Riegman KL, De Martini LB, Chaya T, Robinson IC, Furukawa T, Cariboni A, Basson MA, Dattani MT. Whittaker DE, et al. Among authors: ocaka la. J Clin Invest. 2021 Dec 15;131(24):e141587. doi: 10.1172/JCI141587. J Clin Invest. 2021. PMID: 34730112 Free PMC article.
Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis.
Gregory LC, Shah P, Sanner JRF, Arancibia M, Hurst J, Jones WD, Spoudeas H, Le Quesne Stabej P, Williams HJ, Ocaka LA, Loureiro C, Martinez-Aguayo A, Dattani MT. Gregory LC, et al. Among authors: ocaka la. J Clin Endocrinol Metab. 2019 Dec 1;104(12):5737-5750. doi: 10.1210/jc.2019-00631. J Clin Endocrinol Metab. 2019. PMID: 31504653 Free PMC article.
The use of whole-exome sequencing to disentangle complex phenotypes.
Williams HJ, Hurst JR, Ocaka L, James C, Pao C, Chanudet E, Lescai F, Stanescu HC, Kleta R; GOSgene; Rosser E, Bacchelli C, Beales P. Williams HJ, et al. Among authors: ocaka l. Eur J Hum Genet. 2016 Feb;24(2):298-301. doi: 10.1038/ejhg.2015.121. Epub 2015 Jun 10. Eur J Hum Genet. 2016. PMID: 26059842 Free PMC article.
STAG3 truncating variant as the cause of primary ovarian insufficiency.
Le Quesne Stabej P, Williams HJ, James C, Tekman M, Stanescu HC, Kleta R, Ocaka L, Lescai F, Storr HL, Bitner-Glindzicz M, Bacchelli C, Conway GS; GOSgene. Le Quesne Stabej P, et al. Among authors: ocaka l. Eur J Hum Genet. 2016 Jan;24(1):135-8. doi: 10.1038/ejhg.2015.107. Epub 2015 Jun 10. Eur J Hum Genet. 2016. PMID: 26059840 Free PMC article.
33 results