ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency
McGlacken-Byrne, Sinéad M, Le Quesne Stabej, Polona, Del Valle, Ignacio, Ocaka, Louise, Gagunashvili, Andrey, Crespo, Berta, Moreno, Nadjeda, James, Chela, Bacchelli, Chiara, Dattani, Mehul T, Williams, Hywel J, Kelberman, Dan, Achermann, John C, Conway, Gerard S
Published in The journal of clinical endocrinology and metabolism (01.01.2022)
Published in The journal of clinical endocrinology and metabolism (01.01.2022)
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Journal Article
Identification of Leptomeningeal Medulloblastoma with Contrast‐Enhanced Magnetic Resonance Imaging: A Devastating Differential of Acute Disseminated Encephomyelitis
McGlacken‐Byrne, Sinead M, Gorman, Kathleen M, Lagan, Niamh K, Robinson, Ian, Farrell, Michael, King, Mary D
Published in Journal of paediatrics and child health (01.08.2018)
Published in Journal of paediatrics and child health (01.08.2018)
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Journal Article
The SARS‐CoV‐2 pandemic is associated with increased severity of presentation of childhood onset type 1 diabetes mellitus: A multi‐centre study of the first COVID‐19 wave
McGlacken‐Byrne, Sinéad M., Drew, Samantha E. V., Turner, Kelly, Peters, Catherine, Amin, Rakesh
Published in Diabetic medicine (01.09.2021)
Published in Diabetic medicine (01.09.2021)
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Journal Article
Comment on: Congenital dyserythropoietic anemia type IV with KLF1 E325K mutation: A new case with dysmorphic male genitalia. Report of a second case
Dorosh, Olha, Bodak, Khrystyna, Tsymbalyuk‐Voloshyn, Iryna, Makukh, Halyna, Kreminska, Olena, Hrytsiuk, Ihor, Battisti, Laura, Erlacher, Miriam, Wlodarski, Marcin, McGlacken‐Byrne, Sinead M, Achermann, John C, Niemeyer, Charlotte M, Yoshimi, Ayami
Published in Pediatric blood & cancer (27.08.2024)
Published in Pediatric blood & cancer (27.08.2024)
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Journal Article
Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort with hyperinsulinaemic hypoglycaemia
McGlacken-Byrne, Sinéad M, Mohammad, Jasmina Kallefullah, Conlon, Niamh, Gubaeva, Diliara, Siersbæk, Julie, Schou, Anders Jørgen, Demirbilek, Huseyin, Dastamani, Antonia, Houghton, Jayne A L, Brusgaard, Klaus, Melikyan, Maria, Christesen, Henrik, Flanagan, Sarah E, Murphy, Nuala P, Shah, Pratik
Published in European journal of endocrinology (01.04.2022)
Published in European journal of endocrinology (01.04.2022)
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Journal Article
Mosaic PRKACA duplication causing a novel and distinct phenotype of early-onset Cushing’s syndrome and acral cutaneous mucinosis
McGlacken-Byrne, Sinéad M, Abdelmaksoud, Ashraf, Haini, Mohammad, Palm, Liina, Ashworth, Michael, Li, Juan, Wang, Wei, Wang, Xiumin, Wang, Jian, Callaghan, Bridget, Kinsler, Veronica A., Faravelli, Francesca, Dattani, Mehul T
Published in European journal of endocrinology (01.12.2022)
Published in European journal of endocrinology (01.12.2022)
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Journal Article
Current Insights Into Adrenal Insufficiency in the Newborn and Young Infant
Buonocore, Federica, McGlacken-Byrne, Sinead M, Del Valle, Ignacio, Achermann, John C
Published in Frontiers in pediatrics (14.12.2020)
Published in Frontiers in pediatrics (14.12.2020)
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Journal Article
Analysis of genetic variability in Turner syndrome linked to long-term clinical features
Suntharalingham, Jenifer P, Ishida, Miho, Cameron-Pimblett, Antoinette, McGlacken-Byrne, Sinead M, Buonocore, Federica, Del Valle, Ignacio, Madhan, Gaganjit Kaur, Brooks, Tony, Conway, Gerard S, Achermann, John C
Published in Frontiers in endocrinology (Lausanne) (20.09.2023)
Published in Frontiers in endocrinology (Lausanne) (20.09.2023)
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Journal Article
Characterising approaches to steroid therapy in paediatric multisystem inflammatory syndrome temporally associated with SARS‐CoV‐2
McGlacken‐Byrne, Sinéad M, Johnson, Mae, Penner, Justin, Pré, Pascale, Katugampola, Harshini
Published in Journal of paediatrics and child health (01.07.2023)
Published in Journal of paediatrics and child health (01.07.2023)
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Journal Article
An integrated single-cell analysis of human adrenal cortex development
Del Valle, Ignacio, Young, Matthew D, Kildisiute, Gerda, Ogunbiyi, Olumide K, Buonocore, Federica, Simcock, Ian C, Khabirova, Eleonora, Crespo, Berta, Moreno, Nadjeda, Brooks, Tony, Niola, Paola, Swarbrick, Katherine, Suntharalingham, Jenifer P, McGlacken-Byrne, Sinead M, Arthurs, Owen J, Behjati, Sam, Achermann, John C
Published in JCI insight (24.07.2023)
Published in JCI insight (24.07.2023)
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Journal Article
Premature ovarian insufficiency
McGlacken-Byrne, Sinéad M., Conway, Gerard S.
Published in Best practice & research. Clinical obstetrics & gynaecology (01.05.2022)
Published in Best practice & research. Clinical obstetrics & gynaecology (01.05.2022)
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Journal Article
Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency
Akin, Leyla, Rizzoti, Karine, Gregory, Louise C., Corredor, Beatriz, Le Quesne Stabej, Polona, Williams, Hywel, Buonocore, Federica, Mouilleron, Stephane, Capra, Valeria, McGlacken-Byrne, Sinead M., Martos-Moreno, Gabriel Á., Azmanov, Dimitar N., Kendirci, Mustafa, Kurtoglu, Selim, Suntharalingham, Jenifer P., Galichet, Christophe, Gustincich, Stefano, Tasic, Velibor, Achermann, John C., Accogli, Andrea, Filipovska, Aleksandra, Tuilpakov, Anatoly, Maghnie, Mohamad, Gucev, Zoran, Gonen, Zeynep Burcin, Pérez-Jurado, Luis A., Robinson, Iain, Lovell-Badge, Robin, Argente, Jesús, Dattani, Mehul T.
Published in Genetics in medicine (01.02.2022)
Published in Genetics in medicine (01.02.2022)
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Journal Article
Management of a Girl With Delayed Puberty and Elevated Gonadotropins
McGlacken-Byrne, Sinéad M, Achermann, John C, Conway, Gerard S
Published in Journal of the Endocrine Society (01.09.2022)
Published in Journal of the Endocrine Society (01.09.2022)
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Journal Article
Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency
McGlacken-Byrne, Sinéad M, Del Valle, Ignacio, Quesne Stabej, Polona Le, Bellutti, Laura, Garcia-Alonso, Luz, Ocaka, Louise A, Ishida, Miho, Suntharalingham, Jenifer P, Gagunashvili, Andrey, Ogunbiyi, Olumide K, Mistry, Talisa, Buonocore, Federica, Crespo, Berta, Moreno, Nadjeda, Niola, Paola, Brooks, Tony, Brain, Caroline E, Dattani, Mehul T, Kelberman, Daniel, Vento-Tormo, Roser, Lagos, Carlos F, Livera, Gabriel, Conway, Gerard S, Achermann, John C
Published in JCI insight (08.03.2022)
Published in JCI insight (08.03.2022)
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Journal Article
Mosaic PRKACA duplication causing a novel and distinct phenotype of early-onset Cushing syndrome and acral cutaneous mucinosis
McGlacken-Byrne, Sinead M, Abdelmaksoud, Ashraf, Haini, Mohammad, Palm, Liina, Ashworth, Michael, Li, Juan, Wang, Wei, Wang, Xiumin, Wang, Jian, Callaghan, Bridget, Kinsler, Veronica A, Faravelli, Francesca, Dattani, Mehul T
Published in European journal of endocrinology (01.10.2022)
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Published in European journal of endocrinology (01.10.2022)
Journal Article
The transcriptomic landscape of monosomy X (45,X) during early human fetal and placental development
Suntharalingham, Jenifer P, Ignacio Del Valle, Buonocore, Federica, Mcglacken-Byrne, Sinead M, Brooks, Tony, Ogunbiyi, Olumide K, Liptrot, Danielle, Dunton, Nathan, Madhan, Gaganjit K, Metcalfe, Kate, Nel, Lydia, Marshall, Abigail R, Ishida, Miho, Sebire, Neil J, Moore, Gudrun E, Crespo, Berta, Solanky, Nita, Conway, Gerard S, Achermann, John C
Published in bioRxiv (04.03.2024)
Published in bioRxiv (04.03.2024)
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Paper
Identification of Leptomeningeal Medulloblastoma with Contrast-Enhanced Magnetic Resonance Imaging: A Devastating Differential of Acute Disseminated Encephomyelitis
McGlacken-Byrne, Sinead M, Gorman, Kathleen M, Lagan, Niamh K, Robinson, Ian, Farrell, Michael, King, Mary D
Published in Journal of paediatrics and child health (01.08.2018)
Published in Journal of paediatrics and child health (01.08.2018)
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Report
The SARS-CoV-2 Pandemic Is Associated With Increased Severity Of Presentation Of Childhood Onset Type 1 Diabetes Mellitus: A Multicentre Study Of The First COVID-19 Wave
McGlacken-Byrne, Sinéad M, Drew, Samantha EV, Turner, Kelly, Peters, Catherine, Amin, Rakesh
Published in Diabetic Medicine (10.07.2021)
Published in Diabetic Medicine (10.07.2021)
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