Publications by authors named "Benjamin Bunce"

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Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements.
Thomas W Laver, Matthew N Wakeling, Richard C Caswell, Benjamin Bunce, Daphne Yau

Eur J Hum Genet· July 2024

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Bringing precision medicine to the management of pregnancy in women with glucokinase-MODY: a study of diagnostic accuracy and feasibility of non-invasive prenatal testing.
Alice E Hughes, Jayne A L Houghton, Benjamin Bunce, Ali J Chakera, Gill Spyer

Diabetologia· November 2023

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Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder.
Rhian L Clissold, Charles Shaw-Smith, Peter Turnpenny, Benjamin Bunce, Detlef Bockenhauer

Kidney Int· July 2016

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Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study.
Donato Iacovazzo, Richard Caswell, Benjamin Bunce, Sian Jose, Bo Yuan

Acta Neuropathol Commun· June 2016

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Somatic GPR101 Duplication Causing X-Linked Acrogigantism (XLAG)-Diagnosis and Management.
Celia Rodd, Maude Millette, Donato Iacovazzo, Craig E Stiles, Sayka Barry, Benjamin Bunce

J Clin Endocrinol Metab· May 2016

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