Current Insights Into Adrenal Insufficiency in the Newborn and Young Infant

by Federica Buonocore, Sinead M. McGlacken-Byrne, Ignacio del Valle, John C. Achermann
Published 2020-12-01

Human RSPO1/R-spondin1 is expressed during early ovary development and augments β-catenin signaling.

by Sara Tomaselli, Francesca Megiorni, Lin Lin, Maria Cristina Mazzilli, Dianne Gerrelli, Silvia Majore, Paola Grammatico, John C Achermann
Published 2011-01-01

Missplicing due to a synonymous, T96= exonic substitution in the T-box transcription factor TBX19 resulting in isolated ACTH deficiency

by Ashwini Maudhoo, Avinaash Maharaj, Federica Buonocore, Gabriel Angel Martos-Moreno, Jesús Argente, John C Achermann, Li F Chan, Lou A Metherell
Published 2021-09-01

Analysis of CDKN1C in fetal growth restriction and pregnancy loss [version 1; peer review: 2 approved]

by Jenifer P. Suntharalingham, Miho Ishida, Federica Buonocore, Ignacio del Valle, Nita Solanky, Charalambos Demetriou, Lesley Regan, Gudrun E. Moore, John C. Achermann
Published 2019-01-01

A genomic atlas of human adrenal and gonad development [version 1; referees: 2 approved]

by Ignacio del Valle, Federica Buonocore, Andrew J. Duncan, Lin Lin, Martino Barenco, Rahul Parnaik, Sonia Shah, Mike Hubank, Dianne Gerrelli, John C. Achermann
Published 2017-04-01

A genomic atlas of human adrenal and gonad development [version 2; referees: 4 approved]

by Ignacio del Valle, Federica Buonocore, Andrew J. Duncan, Lin Lin, Martino Barenco, Rahul Parnaik, Sonia Shah, Mike Hubank, Dianne Gerrelli, John C. Achermann
Published 2017-10-01

Characterisation and validation of insertions and deletions in 173 patient exomes.

by Francesco Lescai, Silvia Bonfiglio, Chiara Bacchelli, Estelle Chanudet, Aoife Waters, Sanjay M Sisodiya, Dalia Kasperavičiūtė, Julie Williams, Denise Harold, John Hardy, Robert Kleta, Sebahattin Cirak, Richard Williams, John C Achermann, John Anderson, David Kelsell, Tom Vulliamy, Henry Houlden, Nicholas Wood, Una Sheerin, Gian Paolo Tonini, Donna Mackay, Khalid Hussain, Jane Sowden, Veronica Kinsler, Justyna Osinska, Tony Brooks, Mike Hubank, Philip Beales, Elia Stupka
Published 2012-01-01

Single cell derived mRNA signals across human kidney tumors

by Matthew D. Young, Thomas J. Mitchell, Lars Custers, Thanasis Margaritis, Francisco Morales-Rodriguez, Kwasi Kwakwa, Eleonora Khabirova, Gerda Kildisiute, Thomas R. W. Oliver, Ronald R. de Krijger, Marry M. van den Heuvel-Eibrink, Federico Comitani, Alice Piapi, Eva Bugallo-Blanco, Christine Thevanesan, Christina Burke, Elena Prigmore, Kirsty Ambridge, Kenny Roberts, Felipe A. Vieira Braga, Tim H. H. Coorens, Ignacio Del Valle, Anna Wilbrey-Clark, Lira Mamanova, Grant D. Stewart, Vincent J. Gnanapragasam, Dyanne Rampling, Neil Sebire, Nicholas Coleman, Liz Hook, Anne Warren, Muzlifah Haniffa, Marcel Kool, Stefan M. Pfister, John C. Achermann, Xiaoling He, Roger A. Barker, Adam Shlien, Omer A. Bayraktar, Sarah A. Teichmann, Frank C. Holstege, Kerstin B. Meyer, Jarno Drost, Karin Straathof, Sam Behjati
Published 2021-06-01