Christine P Burren (Christine Burren)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2018-2023
Publications (10 Years): 6

Top Topics

Preterm Infants

Mitochondrial Dna

Top Venues

American journal of medical genetics. Part A

JCEM case reports

BMC medical genetics

Journal of human genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Christine P Burren, Georgina Williams, Edward Coxson, Marta Korbonits
Effective Long-term Pediatric Pegvisomant Monotherapy to Final Height in X-linked Acrogigantism. JCEM case reports 1 (3) (2023)
Anna E Mason, David Grier, Sarah F Smithson, Christine P Burren, Elise Gradhand
Post-mortem histology in transient receptor potential cation channel subfamily V member 6 (TRPV6) under-mineralising skeletal dysplasia suggests postnatal skeletal recovery: a case report. BMC medical genetics 21 (1) (2020)
Tazeen Ashraf, Camelia Vaina, Dinesh Giri, Christine P Burren, Margaret James, Amaka C Offiah, Timothy Overton, Julia Baptista, Sian Ellard, Sarah F Smithson
Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome. American journal of medical genetics. Part A 182 (10) (2020)
Jing-Yi Xue, Zheng Wang, Sarah F Smithson, Christine P Burren, Naomichi Matsumoto, Gen Nishimura, Shiro Ikegawa, Long Guo
The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins. Journal of human genetics 66 (4) (2020)
Lucy Bownass, Stephen Abbs, Ruth Armstrong, Genevieve Baujat, Gry Behzadi, Ragnhild Drage Berentsen, Christine P Burren, Alistair Calder, Valérie Cormier-Daire, Ruth Newbury-Ecob, Nicola Foulds, Petur B Juliusson, Sarina G Kant, Henrietta Lefroy, Sarju G Mehta, Else Merckoll, Caroline Michot, Fergal Monsell, Amaka C Offiah, Allan Richards, Karen Rosendahl, Cecilie F Rustad, Deborah Shears, Kristian Tveten, Diana Wellesley, Paul Wordsworth, null null, Sarah Smithson
PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases. American journal of medical genetics. Part A 179 (9) (2019)
Christine P Burren, Richard Caswell, Bruce Castle, C Ross Welch, Tom N Hilliard, Sarah F Smithson, Sian Ellard
TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton. American journal of medical genetics. Part A 176 (9) (2018)