Congenital microcephaly
Alcantara, Diana, O'Driscoll, Mark
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.06.2014)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.06.2014)
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A novel role for the peptidyl-prolyl cis-trans isomerase Cyclophilin A in DNA-repair following replication fork stalling via the MRE11-RAD50-NBS1 complex
Bedir, Marisa, Outwin, Emily, Colnaghi, Rita, Bassett, Lydia, Abramowicz, Iga, O’Driscoll, Mark
Published in EMBO reports (09.08.2024)
Published in EMBO reports (09.08.2024)
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Homozygous DBF4 mutation as a cause of severe congenital neutropenia
Willemsen, Mathijs, Barber, John S., Nieuwenhove, Erika Van, Staels, Frederik, Gerbaux, Margaux, Neumann, Julika, Prezzemolo, Teresa, Pasciuto, Emanuela, Lagou, Vasiliki, Boeckx, Nancy, Filtjens, Jessica, De Visscher, Amber, Matthys, Patrick, Schrijvers, Rik, Tousseyn, Thomas, O’Driscoll, Mark, Bucciol, Giorgia, Schlenner, Susan, Meyts, Isabelle, Humblet-Baron, Stephanie, Liston, Adrian
Published in Journal of allergy and clinical immunology (01.07.2023)
Published in Journal of allergy and clinical immunology (01.07.2023)
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Journal Article
Regulation of DNA damage responses and cell cycle progression by hMOB2
Gomez, Valenti, Gundogdu, Ramazan, Gomez, Marta, Hoa, Lily, Panchal, Neelam, O'Driscoll, Mark, Hergovich, Alexander
Published in Cellular signalling (01.02.2015)
Published in Cellular signalling (01.02.2015)
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Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome
Bicknell, Louise S, Walker, Sarah, Klingseisen, Anna, Stiff, Tom, Leitch, Andrea, Kerzendorfer, Claudia, Martin, Carol-Anne, Yeyati, Patricia, Al Sanna, Nouriya, Bober, Michael, Johnson, Diana, Wise, Carol, Jackson, Andrew P, O'Driscoll, Mark, Jeggo, Penny A
Published in Nature genetics (01.04.2011)
Published in Nature genetics (01.04.2011)
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Journal Article
ATR-dependent phosphorylation and activation of ATM in response to UV treatment or replication fork stalling
Stiff, Thomas, Walker, Sarah A, Cerosaletti, Karen, Goodarzi, Aaron A, Petermann, Eva, Concannon, Pat, O'Driscoll, Mark, Jeggo, Penny A
Published in The EMBO journal (13.12.2006)
Published in The EMBO journal (13.12.2006)
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Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network
Abramowicz, Iga, Carpenter, Gillian, Alfieri, Mariaevelina, Colnaghi, Rita, Outwin, Emily, Parent, Philippe, Thauvin-Robinet, Christel, Iaconis, Daniela, Franco, Brunella, O'Driscoll, Mark
Published in Human molecular genetics (01.01.2017)
Published in Human molecular genetics (01.01.2017)
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Journal Article
Meier–Gorlin syndrome and Wolf–Hirschhorn syndrome: Two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis
Kerzendorfer, Claudia, Colnaghi, Rita, Abramowicz, Iga, Carpenter, Gillian, O’Driscoll, Mark
Published in DNA repair (01.08.2013)
Published in DNA repair (01.08.2013)
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Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum"
Di Donato, Nataliya, Rump, Andreas, Mirzaa, Ghayda M., Alcantara, Diana, Oliver, Antony, Schrock, Evelin, Dobyns, William B., O'Driscoll, Mark
Published in Human mutation (01.03.2016)
Published in Human mutation (01.03.2016)
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Journal Article
Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome
Stiff, Tom, Alagoz, Meryem, Alcantara, Diana, Outwin, Emily, Brunner, Han G, Bongers, Ernie M H F, O'Driscoll, Mark, Jeggo, Penny A
Published in PLoS genetics (01.03.2013)
Published in PLoS genetics (01.03.2013)
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