Browse by UCL people
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Number of items: 10.
Article
Bryant, Dale;
Barberan-Martin, Sara;
Maeshima, Ruhina;
Torres, Ignacio Del Valle;
Rabii, Mohammad;
Baird, William;
Sauvadet, Aimie;
... Kinsler, Veronica A; + view all
(2024)
RNA therapy for oncogenic NRAS-driven naevi induces apoptosis.
Journal of Investigative Dermatology
10.1016/j.jid.2024.04.031.
(In press).
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Buonocore, Federica;
Suntharalingham, Jenifer P;
Ogunbiyi, Olumide K;
Jones, Aragorn;
Moreno, Nadjeda;
Niola, Paola;
Brooks, Tony;
... Achermann, John C; + view all
(2025)
Transcriptomic sex differences in early human fetal brain development.
Communications Biology
, 8
, Article 664. 10.1038/s42003-025-08070-3.
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Buonocore, F;
Clifford-Mobley, O;
King, TFJ;
Striglioni, N;
Man, E;
Suntharalingham, JP;
del Valle, I;
... Achermann, JC; + view all
(2019)
Next generation sequencing reveals novel genetic variants (SRY, DMRT1, NR5A1, DHH, DHX37) in adults with 46,XY DSD.
Journal of the Endocrine Society
10.1210/js.2019-00306.
(In press).
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Buonocore, F;
Kühnen, P;
Suntharalingham, JP;
Del Valle, I;
Digweed, M;
Stachelscheid, H;
Khajavi, N;
... Achermann, JC; + view all
(2017)
Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans.
Journal of Clinical Investigation
, 127
(5)
pp. 1700-1713.
10.1172/JCI91913.
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Del Valle, I;
Buonocore, F;
Duncan, AJ;
Lin, L;
Barenco, M;
Parnaik, R;
Shah, S;
... Achermann, JC; + view all
(2017)
A genomic atlas of human adrenal and gonad development [version 1; referees: awaiting peer review].
Wellcome Open Research
, 2
, Article 25. 10.12688/wellcomeopenres.11253.1.
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McGlacken-Byrne, Sinead M;
del Valle, Ignacio;
Stabej, Polona Le Quesne;
Bellutti, Laura;
Garcia-Alonso, Luz;
Ocaka, Louise A;
Ishida, Miho;
... Achermann, John C; + view all
(2022)
Pathogenic variants in the human m(6)A reader YTHDC2 are associated with primary ovarian insufficiency.
JCI Insight
, 7
(5)
, Article e154671. 10.1172/jci.insight.154671.
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McGlacken-Byrne, Sinead M;
Suntharalingham, Jenifer P;
Ishida, Miho;
Buonocore, Federica;
del Valle, Ignacio;
Cameron-Pimblett, Antoinette;
Dattani, Mehul T;
... Conway, Gerard S; + view all
(2025)
A Tiered Approach to Exome Sequencing Analysis in Early-Onset Primary Ovarian Insufficiency.
The Journal of Clinical Endocrinology & Metabolism
, Article dgaf124. 10.1210/clinem/dgaf124.
(In press).
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McGlacken-Byrne, SM;
Le Quesne Stabej, P;
Del Valle Torres, I;
Ocaka, L;
Gagunashvili, A;
Crespo, B;
Moreno, N;
... Conway, GS; + view all
(2021)
ZSWIM7 is associated with human female meiosis and familial primary ovarian insufficiency.
The Journal of clinical endocrinology and metabolism
10.1210/clinem/dgab597.
(In press).
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Suntharalingham, Jenifer P;
Del Valle, Ignacio;
Buonocore, Federica;
McGlacken-Byrne, Sinead M;
Brooks, Tony;
Ogunbiyi, Olumide K;
Liptrot, Danielle;
... Achermann, John C; + view all
(2025)
The transcriptomic landscape of monosomy X (45,X) during early human fetal and placental development.
Communications Biology
, 8
, Article 249. 10.1038/s42003-025-07699-4.
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Tomaz, RA;
Harman, JL;
Karimlou, D;
Weavers, L;
Fritsch, L;
Bou-Kheir, T;
Bell, E;
... Azuara, V; + view all
(2017)
Jmjd2c facilitates the assembly of essential enhancer-protein complexes at the onset of embryonic stem cell differentiation.
Development
, 144
(4)
pp. 567-579.
10.1242/dev.142489.
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