Open access is shaping scientific communication
McCabe, Mark J., Mueller-Langer, Frank
Published in Science (American Association for the Advancement of Science) (13.09.2024)
Published in Science (American Association for the Advancement of Science) (13.09.2024)
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Journal Article
MTOR signaling orchestrates stress-induced mutagenesis, facilitating adaptive evolution in cancer
Cipponi, Arcadi, Goode, David L., Bedo, Justin, McCabe, Mark J., Pajic, Marina, Croucher, David R., Rajal, Alvaro Gonzalez, Junankar, Simon R., Saunders, Darren N., Lobachevsky, Pavel, Papenfuss, Anthony T., Nessem, Danielle, Nobis, Max, Warren, Sean C., Timpson, Paul, Cowley, Mark, Vargas, Ana C., Qiu, Min R., Generali, Daniele G., Keerthikumar, Shivakumar, Nguyen, Uyen, Corcoran, Niall M., Long, Georgina V., Blay, Jean-Yves, Thomas, David M.
Published in Science (American Association for the Advancement of Science) (05.06.2020)
Published in Science (American Association for the Advancement of Science) (05.06.2020)
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Journal Article
Claudin-11 and occludin are major contributors to Sertoli cell tight junction function, in vitro
McCabe, Mark, Foo, Caroline, Dinger, Marcel, Smooker, Peter, Stanton, Peter
Published in Asian journal of andrology (01.07.2016)
Published in Asian journal of andrology (01.07.2016)
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Journal Article
Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications
Sullivan, Patricia J, Gayevskiy, Velimir, Davis, Ryan L, Wong, Marie, Mayoh, Chelsea, Mallawaarachchi, Amali, Hort, Yvonne, McCabe, Mark J, Beecroft, Sarah, Jackson, Matilda R, Arts, Peer, Dubowsky, Andrew, Laing, Nigel, Dinger, Marcel E, Scott, Hamish S, Oates, Emily, Pinese, Mark, Cowley, Mark J
Published in Genome Biology (17.05.2023)
Published in Genome Biology (17.05.2023)
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Journal Article
Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease
Mallawaarachchi, Amali C, Hort, Yvonne, Cowley, Mark J, McCabe, Mark J, Minoche, André, Dinger, Marcel E, Shine, John, Furlong, Timothy J
Published in European journal of human genetics : EJHG (01.11.2016)
Published in European journal of human genetics : EJHG (01.11.2016)
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Journal Article
OPEN ACCESS AS A CRUDE SOLUTION TO A HOLD-UP PROBLEM IN THE TWO-SIDED MARKET FOR ACADEMIC JOURNALS
McCabe, Mark J., Snyder, Christopher M.
Published in The Journal of industrial economics (01.06.2018)
Published in The Journal of industrial economics (01.06.2018)
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Journal Article
Genetic Overlap in Kallmann Syndrome, Combined Pituitary Hormone Deficiency, and Septo-Optic Dysplasia
Raivio, Taneli, Avbelj, Magdalena, McCabe, Mark J, Romero, Christopher J, Dwyer, Andrew A, Tommiska, Johanna, Sykiotis, Gerasimos P, Gregory, Louise C, Diaczok, Daniel, Tziaferi, Vaitsa, Elting, Mariet W, Padidela, Raja, Plummer, Lacey, Martin, Cecilia, Feng, Bihua, Zhang, Chengkang, Zhou, Qun-Yong, Chen, Huaibin, Mohammadi, Moosa, Quinton, Richard, Sidis, Yisrael, Radovick, Sally, Dattani, Mehul T, Pitteloud, Nelly
Published in The journal of clinical endocrinology and metabolism (01.04.2012)
Published in The journal of clinical endocrinology and metabolism (01.04.2012)
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Journal Article
Metagenomic Investigation of Plasma in Individuals with ME/CFS Highlights the Importance of Technical Controls to Elucidate Contamination and Batch Effects
Miller, Ruth R, Uyaguari-Diaz, Miguel, McCabe, Mark N, Montoya, Vincent, Gardy, Jennifer L, Parker, Shoshana, Steiner, Theodore, Hsiao, William, Nesbitt, Matthew J, Tang, Patrick, Patrick, David M
Published in PloS one (02.11.2016)
Published in PloS one (02.11.2016)
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Journal Article
Transcription factor 7-like 1 is involved in hypothalamo–pituitary axis development in mice and humans
Gaston-Massuet, Carles, McCabe, Mark J., Scagliotti, Valeria, Young, Rodrigo M., Carreno, Gabriela, Gregory, Louise C., Jayakody, Sujatha A., Pozzi, Sara, Gualtieri, Angelica, Basu, Basudha, Koniordou, Markela, Wu, Chun-I, Bancalari, Rodrigo E., Rahikkala, Elisa, Veijola, Riitta, Lopponen, Tuija, Graziola, Federica, Turton, James, Signore, Massimo, Gharavy, Seyedeh Neda Mousavy, Charolidi, Nicoletta, Sokol, Sergei Y., Andoniadou, Cynthia Lilian, Wilson, Stephen W., Merrill, Bradley J., Dattani, Mehul T., Martinez-Barbera, Juan Pedro
Published in Proceedings of the National Academy of Sciences - PNAS (02.02.2016)
Published in Proceedings of the National Academy of Sciences - PNAS (02.02.2016)
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Journal Article
Septo-optic dysplasia and other midline defects: The role of transcription factors: HESX1 and beyond
McCabe, Mark James, PhD, Alatzoglou, Kyriaki S., MSc, MRCPCH, Dattani, Mehul T., FRCPCH, FRCP, MD
Published in Baillière's best practice & research. Clinical endocrinology & metabolism (01.02.2011)
Published in Baillière's best practice & research. Clinical endocrinology & metabolism (01.02.2011)
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Journal Article
Evaluation of Streck BCT and PAXgene Stabilised Blood Collection Tubes for Cell-Free Circulating DNA Studies in Plasma
Warton, Kristina, Yuwono, Nicole L., Cowley, Mark J., McCabe, Mark J., So, Alwin, Ford, Caroline E.
Published in Molecular diagnosis & therapy (01.10.2017)
Published in Molecular diagnosis & therapy (01.10.2017)
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Journal Article
Novel FGF8 Mutations Associated with Recessive Holoprosencephaly, Craniofacial Defects, and Hypothalamo-Pituitary Dysfunction
McCabe, Mark J, Gaston-Massuet, Carles, Tziaferi, Vaitsa, Gregory, Louise C, Alatzoglou, Kyriaki S, Signore, Massimo, Puelles, Eduardo, Gerrelli, Dianne, Farooqi, I. Sadaf, Raza, Jamal, Walker, Joanna, Kavanaugh, Scott I, Tsai, Pei-San, Pitteloud, Nelly, Martinez-Barbera, Juan-Pedro, Dattani, Mehul T
Published in The journal of clinical endocrinology and metabolism (01.10.2011)
Published in The journal of clinical endocrinology and metabolism (01.10.2011)
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Journal Article
The phenotypic spectrum associated with OTX2 mutations in humans
Gregory, Louise C, Gergics, Peter, Nakaguma, Marilena, Bando, Hironori, Patti, Giuseppa, McCabe, Mark J, Fang, Qing, Ma, Qianyi, Ozel, Ayse Bilge, Li, Jun Z, Poina, Michele Moreira, Jorge, Alexander A L, Benedetti, Anna F Figueredo, Lerario, Antonio M, Arnhold, Ivo J P, Mendonca, Berenice B, Maghnie, Mohamad, Camper, Sally A, Carvalho, Luciani R S, Dattani, Mehul T
Published in European journal of endocrinology (25.05.2021)
Published in European journal of endocrinology (25.05.2021)
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Journal Article
Genetic aspects of hypothalamic and pituitary gland development
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Book Chapter
Journal Article
Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours
De Sousa, Sunita M C, McCabe, Mark J, Wu, Kathy, Roscioli, Tony, Gayevskiy, Velimir, Brook, Katelyn, Rawlings, Lesley, Scott, Hamish S, Thompson, Tanya J, Earls, Peter, Gill, Anthony J, Cowley, Mark J, Dinger, Marcel E, McCormack, Ann I
Published in European journal of endocrinology (01.05.2017)
Published in European journal of endocrinology (01.05.2017)
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Journal Article
Variations in PROKR2, But Not PROK2, Are Associated With Hypopituitarism and Septo-optic Dysplasia
McCabe, Mark J, Gaston-Massuet, Carles, Gregory, Louise C, Alatzoglou, Kyriaki S, Tziaferi, Vaitsa, Sbai, Oualid, Rondard, Philippe, Masumoto, Koh-hei, Nagano, Mamoru, Shigeyoshi, Yasufumi, Pfeifer, Marija, Hulse, Tony, Buchanan, Charles R, Pitteloud, Nelly, Martinez-Barbera, Juan-Pedro, Dattani, Mehul T
Published in The journal of clinical endocrinology and metabolism (01.03.2013)
Published in The journal of clinical endocrinology and metabolism (01.03.2013)
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Journal Article
ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies
Webb, Emma A., AlMutair, Angham, Kelberman, Daniel, Bacchelli, Chiara, Chanudet, Estelle, Lescai, Francesco, Andoniadou, Cynthia L., Banyan, Abdul, Alsawaid, Al, Alrifai, Muhammad T., Alahmesh, Mohammed A., Balwi, M., Mousavy-Gharavy, Seyedeh N., Lukovic, Biljana, Burke, Derek, McCabe, Mark J., Kasia, Tessa, Kleta, Robert, Stupka, Elia, Beales, Philip L., Thompson, Dorothy A., Chong, W. Kling, Alkuraya, Fowzan S., Martinez-Barbera, Juan-Pedro, Sowden, Jane C., Dattani, Mehul T.
Published in Brain (London, England : 1878) (01.10.2013)
Published in Brain (London, England : 1878) (01.10.2013)
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Journal Article
Structural Pituitary Abnormalities Associated With CHARGE Syndrome
Gregory, Louise C, Gevers, Evelien F, Baker, Joanne, Kasia, Tessa, Chong, Kling, Josifova, Dragana J, Caimari, Maria, Bilan, Frederic, McCabe, Mark J, Dattani, Mehul T
Published in The journal of clinical endocrinology and metabolism (01.04.2013)
Published in The journal of clinical endocrinology and metabolism (01.04.2013)
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Journal Article