Andrew Biggin

Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study

Laurence Faivre, Gwenaëlle Collod‐Béroud, Bart Loeys et al. · The American Journal of Human Genetics · 2007 · 593 citations · Full text

Marfan Syndrome, Mendelian Disorder, Genetic Disorder +11

Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial

Erik A. Imel, Francis H. Glorieux, Michael P. Whyte et al. · The Lancet · 2019 · 347 citations · Full text

X-linked Hypophosphataemia, Pediatric Hematology, Hematology +2

Consensus guidelines on the use of bisphosphonate therapy in children and adolescents

Peter Simm, Andrew Biggin, Margaret Zacharin et al. · Journal of Paediatrics and Child Health · 2018 · 160 citations

<i>FBN1</i>, <i>TGFBR1</i>, and the Marfan‐craniosynostosis/mental retardation disorders revisited

Lesley C. Adès, Kathleen E. Sullivan, Andrew Biggin et al. · American Journal of Medical Genetics Part A · 2006 · 88 citations

Homozygosity for Frameshift Mutations in XYLT2 Result in a Spondylo-Ocular Syndrome with Bone Fragility, Cataracts, and Hearing Defects

Craig F. Munns, Somayyeh Fahiminiya, Nabin Poudel et al. · The American Journal of Human Genetics · 2015 · 76 citations · Full text

Bone Fragility, Ophthalmology, Genetic Disorder +6