User profiles for "author:Andrew Jenkinson"

Andrew D Jenkinson

University College London Hospital
Verified email at uclh.nhs.uk
Cited by 2073

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

PS Tarpey, R Smith, E Pleasance, A Whibley… - Nature …, 2009 - nature.com
Large-scale systematic resequencing has been proposed as the key future strategy for the
discovery of rare, disease-causing sequence variants across the spectrum of human …

Epigenome-wide association study of body mass index, and the adverse outcomes of adiposity

S Wahl, A Drong, B Lehne, M Loh, WR Scott, S Kunze… - Nature, 2017 - nature.com
Approximately 1.5 billion people worldwide are overweight or affected by obesity, and are at
risk of developing type 2 diabetes, cardiovascular disease and related metabolic and …

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

LM Dibbens, PS Tarpey, K Hynes, MA Bayly… - Nature …, 2008 - nature.com
Epilepsy and mental retardation limited to females (EFMR) is a disorder with an X-linked
mode of inheritance and an unusual expression pattern. Disorders arising from mutations on …

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

PS Tarpey, F Lucy Raymond, LS Nguyen… - Nature …, 2007 - nature.com
Nonsense-mediated mRNA decay (NMD) is of universal biological significance,,. It has
emerged as an important global RNA, DNA and translation regulatory pathway. By …

[HTML][HTML] Differential effects of laparoscopic sleeve gastrectomy and laparoscopic gastric bypass on appetite, circulating acyl-ghrelin, peptide YY3-36 and active GLP-1 …

A Yousseif, J Emmanuel, E Karra, Q Millet… - Obesity surgery, 2014 - Springer
Laparoscopic Roux-en-Y gastric bypass (LRYGBP) reduces appetite and induces significant
and sustainable weight loss. Circulating gut hormones changes engendered by LRYGBP …

Ensembl's 10th year

P Flicek, BL Aken, B Ballester, K Beal… - Nucleic acids …, 2010 - academic.oup.com
ABSTRACT Ensembl (http://www. ensembl. org) integrates genomic information for a
comprehensive set of chordate genomes with a particular focus on resources for human …

The EBI RDF platform: linked open data for the life sciences

S Jupp, J Malone, J Bolleman, M Brandizi… - …, 2014 - academic.oup.com
Motivation: Resource description framework (RDF) is an emerging technology for
describing, publishing and linking life science data. As a major provider of bioinformatics …

[PDF][PDF] Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts …

PS Tarpey, FL Raymond, S O'Meara, S Edkins… - The American Journal of …, 2007 - cell.com
We have identified three truncating, two splice-site, and three missense variants at
conserved amino acids in the CUL4B gene on Xq24 in 8 of 250 families with X-linked mental …

[HTML][HTML] Early postoperative weight loss predicts maximal weight loss after sleeve gastrectomy and Roux-en-Y gastric bypass

S Manning, A Pucci, NC Carter, M Elkalaawy… - Surgical …, 2015 - Springer
Background Previous studies show that 'poor responders' to Roux-en-Y gastric bypass
(RYGBP) may be identified on the basis of early postoperative weight loss. Early …

Safety and efficacy of liraglutide, 3.0 mg, once daily vs placebo in patients with poor weight loss following metabolic surgery: the BARI-OPTIMISE randomized clinical …

J Mok, MO Adeleke, A Brown, CG Magee… - JAMA …, 2023 - jamanetwork.com
Importance Metabolic surgery leads to weight loss and improved health, but these outcomes
are highly variable. Poor weight loss is associated with lower circulating levels of glucagon …