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Loop profile: 1428183

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Employment (2)

University of Exeter: Exeter, Devon, GB

2015-01-01 to present | Associate Professor of Genomic Medicine and Sir Henry Dale Fellow (Medical School)
Employment
Source: Self-asserted source
Sarah Flanagan

University of Exeter: Exeter, Devon, GB

2007-01-01 to 2014-12-31 | Post-Doctoral Fellow (Medical School)
Employment
Source: Self-asserted source
Sarah Flanagan

Education and qualifications (2)

University of Bristol: Bristol, Bristol, GB

Education
Source: Self-asserted source
Sarah Flanagan

Peninsula College of Medicine and Dentistry: Exeter, GB

Education
Source: Self-asserted source
Sarah Flanagan

Professional activities (5)

University of Padua: Padua, Veneto, IT

G.B. Morgagni Medal
Distinction
Source: Self-asserted source
Sarah Flanagan

Genetics Society: London, GB

Membership
Source: Self-asserted source
Sarah Flanagan

Congenital Hyperinsulinism International : Glenn Ridge, New Jersey, US

2018-01-01 to present | Hyperinsulinism Global Registry Steering Committee Member
Service
Source: Self-asserted source
Sarah Flanagan

Genetics Society: London, GB

2014-01-01 to present | University of Exeter Local Representative
Service
Source: Self-asserted source
Sarah Flanagan

Genetics Society: London, GB

2020 | The Balfour Award
Distinction
Source: Self-asserted source
Sarah Flanagan

Funding (9)

Non-coding mutations in congenital hyperinsulinism: deciphering the role of gene dysregulation in human disease

2022-03-31 to 2027-03-30 | Grant
Wellcome Trust (London, UK, GB)
GRANT_NUMBER:

223187/Z/21/Z
Source: check_circle
WT Grant Tracker

Identifying novel insulin secretion disorders caused by mitochondrial dysfunction to highlight fundamental pathways within the β-cell

2021-10 to 2024-09 | Grant
Diabetes UK (London, GB)
Source: Self-asserted source
Sarah Flanagan

Novel insights into autoimmune diabetes

2020-07 to 2021-06 | Grant
Diabetes Research and Wellness Foundation (London, GB)
Source: Self-asserted source
Sarah Flanagan

Using state-of-the-art technology to discover novel genetic mechanisms of insulin secretion

2019-06 to 2020-05 | Grant
Northcott Devon Medical Foundation (Exeter, GB)
Source: Self-asserted source
Sarah Flanagan

Genetic Testing for Congenital Hyperinsulinism

2018-07 to 2021-12 | Grant
Congenital Hyperinsulinism International (Glen Ridge, New Jersey, US)
URL: https://congenitalhi.org/
Source: Self-asserted source
Sarah Flanagan

New insights into development and function of human β-cells by gene discovery in early-onset diabetes

2018-02 to 2019-01 | Grant
Diabetes Research and Wellness Foundation (London, GB)
Source: Self-asserted source
Sarah Flanagan

Single tube diagnosis and classification of diabetes

2015-08 to 2017-07 | Grant
Diabetes UK (London, GB)
Source: Self-asserted source
Sarah Flanagan

Applying the power of genetics to increase knowledge of underlying mechanisms of recessively inherited congenital hyperinsulinism.

2015-01-01 to 2019-12-31 | Grant
Wellcome Trust (London, GB)
URL: https://app.dimensions.ai/details/grant/grant.4579312
GRANT_NUMBER:

105636/Z/14/Z
Source: Self-asserted source
Sarah Flanagan via DimensionsWizard

Liquid handling robot for studies defining novel genetic causes of neonatal diabetes and hyperinsulinism

2011-06-01 to 2014-05-31 | Grant
Diabetes UK (London, GB)
URL: https://app.dimensions.ai/details/grant/grant.5149887
GRANT_NUMBER:

DUK-11/0004193
Source: Self-asserted source
Sarah Flanagan via DimensionsWizard

Works (50 of 211)

Items per page:
Page 1 of 5

International Guidelines for the Diagnosis and Management of Hyperinsulinism

Hormone Research in Paediatrics
2024 | Journal article
DOI: 10.1159/000531766
Contributors: Diva D. De Leon; Jean Baptiste Arnoux; Indraneel Banerjee; Ignacio Bergada; Tricia Bhatti; Louise S. Conwell; Junfen Fu; Sarah E. Flanagan; David Gillis; Thomas Meissner et al.
Source: check_circle
Crossref

Population labels can be generated directly from targeted next-generation sequencing data

2024-10-25 | Preprint
DOI: 10.21203/rs.3.rs-5282595/v1
Contributors: Elisa De Franco; James Russ-Silsby; Malintha Hewa Batage; Laver Thomas; Matthew Wakeling; Matthew Johnson; Andrew Hattersley; Sarah Flanagan
Source: check_circle
Crossref

A Focal Form of Diazoxide-Resistant Congenital Hyperinsulinism with Good Response to Long-Acting Somatostatin

Journal of the ASEAN Federation of Endocrine Societies
2024-07-30 | Journal article
DOI: 10.15605/jafes.039.02.03
Contributors: Suhaimi Hussain; Sarah Flanagan; Nurshafinaz Salmah Mohd Fezal
Source: check_circle
Crossref

Congenital hyperinsulinism and novel KDM6A duplications -resolving pathogenicity with genome and epigenetic analyses

2024-07-30 | Other
DOI: 10.1210/clinem/dgae524
Contributors: Sarah E. Flanagan; Jonna M. E. Männistö; Jasmin J. Hopkins; Thomas Hewat; Fatima Nasser; Joseph Burrage; Antonia Dastamani; Alice Mirante; Nuala Murphy; Jessica Rzasa et al.
Source: check_circle
Crossref

REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants

Human Mutation
2023-12-04 | Journal article
DOI: 10.1155/2023/8857940
Contributors: Jasmin J. Hopkins; Matthew N. Wakeling; Matthew B. Johnson; Sarah E. Flanagan; Thomas W. Laver; Jian-Min Chen
Source: check_circle
Crossref

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

Diabetologia
2023-11 | Journal article
DOI: 10.1007/s00125-023-05982-9
Contributors: Alice E. Hughes; Jayne A. L. Houghton; Benjamin Bunce; Ali J. Chakera; Gill Spyer; Maggie H. Shepherd; Sarah E. Flanagan; Andrew T. Hattersley
Source: check_circle
Crossref

REVEL is better at predicting pathogenicity of loss-of-function than gain-of-function variants

2023-06-07 | Preprint
DOI: 10.1101/2023.06.06.23290963
Contributors: Jasmin J Hopkins; Matthew N Wakeling; Matthew B Johnson; Sarah E Flanagan; Thomas W Laver
Source: check_circle
Crossref

Monogenic disease analysis establishes that fetal insulin accounts for half of human fetal growth

Journal of Clinical Investigation
2023-03-15 | Journal article
DOI: 10.1172/JCI165402
Contributors: Alice E. Hughes; Elisa De Franco; Rachel M. Freathy; Sarah E. Flanagan; Andrew T. Hattersley
Source: check_circle
Crossref

Hyperinsulinemic Hypoglycemia Diagnosed in Childhood Can Be Monogenic

The Journal of Clinical Endocrinology & Metabolism
2023-02-15 | Journal article
DOI: 10.1210/clinem/dgac604
Contributors: Jasmin J Hopkins; Alexandra J Childs; Jayne A L Houghton; Thomas I Hewat; Navoda Atapattu; Matthew B Johnson; Kashyap A Patel; Thomas W Laver; Sarah E Flanagan
Source: check_circle
Crossref

A biallelic loss‐of‐function PDIA6 variant in a second patient with polycystic kidney disease, infancy‐onset diabetes, and microcephaly

Clinical Genetics
2022-11 | Journal article
DOI: 10.1111/cge.14187
Contributors: Elisa De Franco; Matthew N. Wakeling; Russel D. Frew; James Russ‐Silsby; Catherine Peters; Stephen D. Marks; Andrew T. Hattersley; Sarah E. Flanagan
Source: check_circle
Crossref

A homozygous p.(Arg371Ser) mutation in FICD de-regulates AMPylation of the human endoplasmic reticulum chaperone BiP causing infancy-onset diabetes and severe neurodevelopmental delay

2022-05-19 | Preprint
DOI: 10.1101/2022.05.14.22275020
Contributors: Luke A. Perera; Andrew T. Hattersley; Heather P. Harding; Matthew N. Wakeling; Sarah E. Flanagan; Ibrahim Moshina; Jamal Raza; Alice Gardham; David Ron; Elisa De Franco
Source: check_circle
Crossref

SavvyCNV: Genome-wide CNV calling from off-target reads

PLOS Computational Biology
2022-03-16 | Journal article
DOI: 10.1371/journal.pcbi.1009940
Contributors: Thomas W. Laver; Mihaela Pertea; Elisa De Franco; Matthew B. Johnson; Kashyap A. Patel; Sian Ellard; Michael N. Weedon; Sarah E. Flanagan; Matthew N. Wakeling
Source: check_circle
Crossref

Association of birthweight and penetrance of diabetes in individuals with HNF4A-MODY: a cohort study

Diabetologia
2022-01 | Journal article
DOI: 10.1007/s00125-021-05581-6
Contributors: Jonathan M. Locke; Petra Dusatkova; Kevin Colclough; Alice E. Hughes; John M. Dennis; Beverley Shields; Sarah E. Flanagan; Maggie H. Shepherd; Emma L. Dempster; Andrew T. Hattersley et al.
Source: check_circle
Crossref

Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD)

Molecular Genetics & Genomic Medicine
2021-12 | Journal article
DOI: 10.1002/mgg3.1674
Contributors: Sumaya Islam; Mehmet Tekman; Sarah E. Flanagan; Lisa Guay‐Woodford; Khalid Hussain; Sian Ellard; Robert Kleta; Detlef Bockenhauer; Horia Stanescu; Daniela Iancu
Source: check_circle
Crossref

Genetic and clinical heterogeneity of permanent neonatal diabetes mellitus: a single tertiary centre experience

Acta Diabetologica
2021-12-23 | Journal article
DOI: 10.1007/s00592-021-01788-6
Contributors: Wafaa Laimon; Magdy El-Ziny; Amany El-Hawary; Ashraf Elsharkawy; Nanees Abdel-Badie Salem; Hadil Mohamed Aboelenin; Mohammad Hosny Awad; Sarah E. Flanagan; Elisa De Franco
Source: check_circle
Crossref

Sex-biased islet β cell dysfunction is caused by the MODY MAFA S64F variant by inducing premature aging and senescence in males

Cell Reports
2021-10 | Journal article
DOI: 10.1016/j.celrep.2021.109813
Contributors: Emily M. Walker; Jeeyeon Cha; Xin Tong; Min Guo; Jin-Hua Liu; Sophia Yu; Donato Iacovazzo; Franck Mauvais-Jarvis; Sarah E. Flanagan; Márta Korbonits et al.
Source: check_circle
Crossref

Identification of GCK‐ maturity‐onset diabetes of the young in cases of neonatal hyperglycemia: A case series and review of clinical features

Pediatric Diabetes
2021-09-10 | Journal article
DOI: 10.1111/pedi.13239
Contributors: Alice E. Hughes; Elisa De Franco; Evgenia Globa; Nataliya Zelinska; Dörte Hilgard; Popi Sifianou; Andrew T. Hattersley; Sarah E. Flanagan
Source: check_circle
Crossref

Two decades since the fetal insulin hypothesis: what have we learned from genetics?

Diabetologia
2021-04-11 | Journal article
DOI: 10.1007/s00125-021-05386-7
Contributors: Alice E. Hughes; Andrew T. Hattersley; Sarah E. Flanagan; Rachel M. Freathy
Source: check_circle
Crossref

Heterozygous Insulin Receptor (INSR) Mutation Associated with Neonatal Hyperinsulinemic Hypoglycaemia and Familial Diabetes Mellitus: Case Series

Journal of Clinical Research in Pediatric Endocrinology
2020-11-25 | Journal article
DOI: 10.4274/jcrpe.galenos.2019.2019.0106
Contributors: Aashish Sethi; Nicola Foulds; Sarah Ehtisham; Syed Haris Ahmed; Jayne Houghton; Kevin Colclough; Mohammed Didi; Sarah E. Flanagan; Senthil Senniappan
Source: check_circle
Crossref

Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome [version 2; peer review: 3 approved]

2020-08-04 | Journal article
DOI: 10.12688/wellcomeopenres.15465.2
Part of ISSN: 2398-502X
Contributors: Indraneel Banerjee; Senthil Senniappan; Thomas W. Laver; Richard Caswell; Martin Zenker; Klaus Mohnike; Tim Cheetham; Matthew N. Wakeling; Dunia Ismail; Belinda Lennerz et al.
Source: check_circle
Wellcome Open Research

Hyperinsulinaemic hypoglycaemia: A new presentation of 16p11.2 deletion syndrome

Clinical Endocrinology
2019-05 | Journal article
DOI: 10.1111/cen.13951
Contributors: Eirini Kostopoulou; Antonia Dastamani; Silvana Caiulo; Hannah Antell; Sarah E. Flanagan; Pratik Shah
Source: check_circle
Crossref

SavvyCNV: genome-wide CNV calling from off-target reads

2019-05-03 | Other
DOI: 10.1101/617605
Contributors: Thomas W Laver; Elisa De Franco; Matthew B Johnson; Kashyap Patel; Sian Ellard; Michael N Weedon; Sarah E Flanagan; Matthew N Wakeling
Source: check_circle
Crossref

Congenital Hyperinsulinism and Evolution to Sulfonylurearesponsive Diabetes Later in Life due to a Novel Homozygous p.L171F <i>ABCC8</i> Mutation

Journal of Clinical Research in Pediatric Endocrinology
2019-03-01 | Journal article
DOI: 10.4274/jcrpe.galenos.2018.2018.0077
Contributors: Emregül Işık; Hüseyin Demirbilek; Jayne A. Houghton; Sian Ellard; Sarah E. Flanagan; Khalid Hussain
Source: check_circle
Crossref

Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia

Clinical Endocrinology
2018-11 | Journal article
DOI: 10.1111/cen.13841
Contributors: Thomas W. Laver; Matthew N. Wakeling; Janet Hong Yeow Hua; Jayne A. L. Houghton; Khalid Hussain; Sian Ellard; Sarah E. Flanagan
Source: check_circle
Crossref

Correction: Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease.

Genetics in medicine : official journal of the American College of Medical Genetics
2018-11 | Journal article
DOI: 10.1038/s41436-018-0357-1
PMID: 30446706
Contributors: Wakeling MN; Laver TW; Wright CF; De Franco E; Stals KL; Patch AM; Hattersley AT; Flanagan SE; Ellard S; DDD Study
Source: Self-asserted source
Sarah Flanagan via Europe PubMed Central

Clinical Diversity in Focal Congenital Hyperinsulinism in Infancy Correlates With Histological Heterogeneity of Islet Cell Lesions.

Frontiers in endocrinology
2018-10 | Journal article
DOI: 10.3389/fendo.2018.00619
PMID: 30386300
PMC: PMC6199412
Contributors: Craigie RJ; Salomon-Estebanez M; Yau D; Han B; Mal W; Newbould M; Cheesman E; Bitetti S; Mohamed Z; Sajjan R et al.
Source: Self-asserted source
Sarah Flanagan via Europe PubMed Central

Cognitive, Neurological, and Behavioral Features in Adults With KCNJ11 Neonatal Diabetes.

Diabetes care
2018-10 | Journal article
DOI: 10.2337/dc18-1060
PMID: 30377186
Contributors: Bowman P; Day J; Torrens L; Shepherd MH; Knight BA; Ford TJ; Flanagan SE; Chakera A; Hattersley AT; Zeman A
Source: Self-asserted source
Sarah Flanagan via Europe PubMed Central

Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease.

Genetics in medicine : official journal of the American College of Medical Genetics
2018-10 | Journal article
DOI: 10.1038/s41436-018-0281-4
PMID: 30279471
Contributors: Wakeling MN; Laver TW; Wright CF; De Franco E; Stals KL; Patch AM; Hattersley AT; Flanagan SE; Ellard S; DDD Study
Source: Self-asserted source
Sarah Flanagan via Europe PubMed Central

PLIN1 Haploinsufficiency Is Not Associated With Lipodystrophy.

The Journal of clinical endocrinology and metabolism
2018-09 | Journal article
DOI: 10.1210/jc.2017-02662
PMID: 30020498
PMC: PMC6126890
Contributors: Laver TW; Patel KA; Colclough K; Curran J; Dale J; Davis N; Savage DB; Flanagan SE; Ellard S; Hattersley AT et al.
Source: Self-asserted source
Sarah Flanagan via Europe PubMed Central

Diazoxide toxicity in a child with persistent hyperinsulinemic hypoglycemia of infancy: mixed hyperglycemic hyperosmolar coma and ketoacidosis.

Journal of pediatric endocrinology & metabolism : JPEM
2018-08 | Journal article
DOI: 10.1515/jpem-2018-0112
PMID: 29958183
Contributors: Mangla P; Hussain K; Ellard S; Flanagan SE; Bhatia V
Source: Self-asserted source
Sarah Flanagan via Europe PubMed Central

Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1

Pediatric Diabetes
2018-08 | Journal article
DOI: 10.1111/pedi.12669
Contributors: Huseyin Demirbilek; Nihal Hatipoglu; Ulku Gul; Zeynep U Tatli; Sian Ellard; Sarah E Flanagan; Elisa De Franco; Selim Kurtoglu
Source: check_circle
Crossref

Comprehensive screening shows that mutations in the known syndromic genes are rare in individuals presenting with hyperinsulinaemic hypoglycaemia

2018-06 | Other
DOI: 10.1101/346189
OTHER-ID:

PPR9665
Contributors: Laver TW; Wakeling MN; Hua JHY; Houghton JA; Hussain K; Ellard S; Flanagan SE
Source: Self-asserted source
Sarah Flanagan via Europe PubMed Central

Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study.

The lancet. Diabetes & endocrinology
2018-06 | Journal article
DOI: 10.1016/S2213-8587(18)30106-2
PMID: 29880308
PMC: PMC6058077
Contributors: Bowman P; Sulen Å; Barbetti F; Beltrand J; Svalastoga P; Codner E; Tessmann EH; Juliusson PB; Skrivarhaug T; Pearson ER et al.
Source: Self-asserted source
Sarah Flanagan via Europe PubMed Central

An ingestible bacterial-electronic system to monitor gastrointestinal health.

Science (New York, N.Y.)
2018-05 | Journal article
DOI: 10.1126/science.aas9315
PMID: 29798884
Contributors: Mimee M; Nadeau P; Hayward A; Carim S; Flanagan S; Jerger L; Collins J; McDonnell S; Swartwout R; Citorik RJ et al.
Source: Self-asserted source
Sarah Flanagan via Europe PubMed Central

Congenital hyperinsulinism and evolution to sulfonylurea-responsive diabetes later in life due to a novel homozygous p.L171F ABCC8 mutation.

Journal of clinical research in pediatric endocrinology
2018-03 | Journal article
DOI: 10.4274/jcrpe.0077
PMID: 29739729
Contributors: Işık E; Demirbilek H; Houghton JAL; Ellard S; Flanagan SE; Hussain K
Source: Self-asserted source
Sarah Flanagan via Europe PubMed Central

Focal Congenital Hyperinsulinism as a Cause for Sudden Infant Death.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
2018-03 | Journal article
DOI: 10.1177/1093526618765376
PMID: 29558846
Contributors: Chinoy A; Banerjee I; Flanagan SE; Ellard S; Han B; Mohamed Z; Dunne MJ; Bitetti S
Source: Self-asserted source
Sarah Flanagan via Europe PubMed Central

Substantial differences in bias between single-digest and double-digest RAD-seq libraries: A case study.

Molecular ecology resources
2018-03 | Journal article
DOI: 10.1111/1755-0998.12734
OTHER-ID:

IND605920507
Contributors: Flanagan SP; Jones AG
Source: Self-asserted source
Sarah Flanagan via Europe PubMed Central

A type 1 diabetes genetic risk score can discriminate monogenic autoimmunity with diabetes from early-onset clustering of polygenic autoimmunity with diabetes.

Diabetologia
2018-02 | Journal article
DOI: 10.1007/s00125-018-4551-0
PMID: 29417186
Contributors: Johnson MB; Patel KA; De Franco E; Houghton JAL; McDonald TJ; Ellard S; Flanagan SE; Hattersley AT
Source: Self-asserted source
Sarah Flanagan via Europe PubMed Central

Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome.

Diabetologia
2018-02 | Journal article
DOI: 10.1007/s00125-018-4554-x
PMID: 29450569
Contributors: Habeb AM; Flanagan SE; Zulali MA; Abdullah MA; Pomahačová R; Boyadzhiev V; Colindres LE; Godoy GV; Vasanthi T; Al Saif R et al.
Source: Self-asserted source
Sarah Flanagan via Europe PubMed Central

Differentiation measures for conservation genetics.

Evolutionary Applications
2018-01 | Journal article
DOI: 10.1111/eva.12590
PMID: 30026802
PMC: PMC6050183
Contributors: Jost L; Archer F; Flanagan S; Gaggiotti O; Hoban S; Latch E
Source: Self-asserted source
Sarah Flanagan via Europe PubMed Central

Erratum. Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes. Diabetes 2017;66:2316-2322.

Diabetes
2018-01 | Journal article
DOI: 10.2337/db18-er03b
PMID: 29305528
PMC: PMC5828457
Contributors: Johnson MB; De Franco E; Lango Allen H; Al Senani A; Elbarbary N; Siklar Z; Berberoglu M; Imane Z; Haghighi A; Razavi Z et al.
Source: Self-asserted source
Sarah Flanagan via Europe PubMed Central

Genetic mutations associated with neonatal diabetes mellitus in Omani patients.

Journal of pediatric endocrinology & metabolism : JPEM
2018-01 | Journal article
DOI: 10.1515/jpem-2017-0284
PMID: 29329106
Contributors: Al Senani A; Hamza N; Al Azkawi H; Al Kharusi M; Al Sukaiti N; Al Badi M; Al Yahyai M; Johnson M; De Franco E; Flanagan S et al.
Source: Self-asserted source
Sarah Flanagan via Europe PubMed Central

MAFA missense mutation causes familial insulinomatosis and diabetes mellitus.

Proceedings of the National Academy of Sciences of the United States of America
2018-01 | Journal article
DOI: 10.1073/pnas.1712262115
PMID: 29339498
PMC: PMC5798333
Contributors: Iacovazzo D; Flanagan SE; Walker E; Quezado R; de Sousa Barros FA; Caswell R; Johnson MB; Wakeling M; Brändle M; Guo M et al.
Source: Self-asserted source
Sarah Flanagan via Europe PubMed Central

Guidelines for planning genomic assessment and monitoring of locally adaptive variation to inform species conservation.

Evolutionary Applications
2017-12 | Journal article
DOI: 10.1111/eva.12569
PMID: 30026796
PMC: PMC6050180
Contributors: Flanagan SP; Forester BR; Latch EK; Aitken SN; Hoban S
Source: Self-asserted source
Sarah Flanagan via Europe PubMed Central

Sirolimus-Induced Hepatitis in Two Patients with Hyperinsulinemic Hypoglycemia

Journal of clinical research in pediatric endocrinology
2017-12 | Journal article
DOI: 10.4274/jcrpe.5335
PMID: 29217498
PMC: PMC6083472
Contributors: Haliloğlu B; Tüzün H; Flanagan SE; Çelik M; Kaya A; Ellard S; Özbek MN
Source: Self-asserted source
Sarah Flanagan via Europe PubMed Central

Monogenic Diabetes Not Caused By Mutations in Mody Genes: A Very Heterogenous Group of Diabetes.

Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association
2017-11 | Journal article
DOI: 10.1055/s-0043-120571
PMID: 29183106
Contributors: Şıklar Z; de Franco E; Johnson MB; Flanagan SE; Ellard S; Ceylaner S; Boztuğ K; Doğu F; İkincioğulları A; Kuloğlu Z et al.
Source: Self-asserted source
Sarah Flanagan via Europe PubMed Central

Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance.

Nature communications
2017-10 | Journal article
DOI: 10.1038/s41467-017-00895-9
PMID: 29026101
PMC: PMC5638866
Contributors: Patel KA; Kettunen J; Laakso M; Stančáková A; Laver TW; Colclough K; Johnson MB; Abramowicz M; Groop L; Miettinen PJ et al.
Source: Self-asserted source
Sarah Flanagan via Europe PubMed Central

Atypical Forms of Congenital Hyperinsulinism in Infancy Are Associated With Mosaic Patterns of Immature Islet Cells.

The Journal of clinical endocrinology and metabolism
2017-09 | Journal article
DOI: 10.1210/jc.2017-00158
PMID: 28605545
PMC: PMC5587070
Contributors: Han B; Mohamed Z; Estebanez MS; Craigie RJ; Newbould M; Cheesman E; Padidela R; Skae M; Johnson M; Flanagan S et al.
Source: Self-asserted source
Sarah Flanagan via Europe PubMed Central

Analysis of large-scale sequencing cohorts does not support the role of variants in UCP2 as a cause of hyperinsulinaemic hypoglycaemia.

Human mutation
2017-08 | Journal article
DOI: 10.1002/humu.23289
PMID: 28681398
Contributors: Laver TW; Weedon MN; Caswell R; Hussain K; Ellard S; Flanagan SE
Source: Self-asserted source
Sarah Flanagan via Europe PubMed Central

Neuropsychological impairments in children with KCNJ11 neonatal diabetes.

Diabetic medicine : a journal of the British Diabetic Association
2017-08 | Journal article
DOI: 10.1111/dme.13375
PMID: 28477417
Contributors: Bowman P; Hattersley AT; Knight BA; Broadbridge E; Pettit L; Reville M; Flanagan SE; Shepherd MH; Ford TJ; Tonks J
Source: Self-asserted source
Sarah Flanagan via Europe PubMed Central
Items per page:
Page 1 of 5

Peer review (2 reviews for 2 publications/grants)

Review activity for Acta diabetologica. (1)
Review activity for Journal of the Endocrine Society. (1)
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