Sarah E. Flanagan (S E Flanagan, Sarah E Flanagan)

ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 30

Top Venues

European journal of human genetics : EJHG

Diabetologia

Pediatric diabetes

Wellcome open research

University of Exeter

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

Affiliation History

University of Exeter Jan 01 2015

United Kingdom

Sir Henry Dale Fellow :: Medical School

University of Exeter Jan 01 2007 - Dec 31 2014

United Kingdom

Post-Doctoral Fellow :: Medical School

Publications

Thomas W Laver, Matthew N Wakeling, Richard C Caswell, Benjamin Bunce, Daphne Yau, Jonna M E Männistö, Jayne A L Houghton, Jasmin J Hopkins, Michael N Weedon, Vrinda Saraff, Melanie Kershaw, Engela M Honey, Nuala Murphy, Dinesh Giri, Stuart Nath, Ana Tangari Saredo, Indraneel Banerjee, Khalid Hussain, Nick D L Owens, Sarah E. Flanagan
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements. European journal of human genetics : EJHG 32 (7) (2024)
Thomas W Laver, Matthew N Wakeling, Richard C Caswell, Benjamin Bunce, Daphne Yau, Jonna M E Männistö, Jayne A L Houghton, Jasmin J Hopkins, Michael N Weedon, Vrinda Saraff, Melanie Kershaw, Engela M Honey, Nuala Murphy, Dinesh Giri, Stuart Nath, Ana Tangari Saredo, Indraneel Banerjee, Khalid Hussain, Nick D L Owens, Sarah E. Flanagan
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements. European journal of human genetics : EJHG (2024)
Jonna M E Männistö, Jasmin J Hopkins, Thomas I Hewat, Fatima Nasser, Joseph Burrage, Antonia Dastamani, Alice Mirante, Nuala Murphy, Jessica Rzasa, Jennifer Kerkhof, Raissa Relator, Matthew B Johnson, Thomas W Laver, Luke Weymouth, Jayne A L Houghton, Matthew N Wakeling, Bekim Sadikovic, Emma L Dempster, Sarah E. Flanagan
Congenital hyperinsulinism and novel KDM6A duplications -resolving pathogenicity with genome and epigenetic analyses. The Journal of clinical endocrinology and metabolism (2024)
Thomas W Laver, Matthew N Wakeling, Richard C Caswell, Benjamin Bunce, Daphne Yau, Jonna M E Männistö, Jayne A L Houghton, Jasmin J Hopkins, Michael N Weedon, Vrinda Saraff, Melanie Kershaw, Engela M Honey, Nuala Murphy, Dinesh Giri, Stuart Nath, Ana Tangari Saredo, Indraneel Banerjee, Khalid Hussain, Nick D L Owens, Sarah E. Flanagan
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements. European journal of human genetics : EJHG 32 (7) (2024)
Thomas W Laver, Matthew N Wakeling, Richard C Caswell, Benjamin Bunce, Daphne Yau, Jonna M E Männistö, Jayne A L Houghton, Jasmin J Hopkins, Michael N Weedon, Vrinda Saraff, Melanie Kershaw, Engela M Honey, Nuala Murphy, Dinesh Giri, Stuart Nath, Ana Tangari Saredo, Indraneel Banerjee, Khalid Hussain, Nick D L Owens, Sarah E. Flanagan
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements. European journal of human genetics : EJHG 32 (7) (2024)
Thomas W Laver, Matthew N Wakeling, Richard C Caswell, Benjamin Bunce, Daphne Yau, Jonna M E Männistö, Jayne A L Houghton, Jasmin J Hopkins, Michael N Weedon, Vrinda Saraff, Melanie Kershaw, Engela M Honey, Nuala Murphy, Dinesh Giri, Stuart Nath, Ana Tangari Saredo, Indraneel Banerjee, Khalid Hussain, Nick D L Owens, Sarah E. Flanagan
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements. European journal of human genetics : EJHG 32 (7) (2024)
Elisa De Franco, Nick D L Owens, Hossam Montaser, Matthew N Wakeling, Jonna Saarimäki-Vire, Athina Triantou, Hazem Ibrahim, Diego Balboa, Richard C Caswell, Rachel E Jennings, Jouni A Kvist, Matthew B Johnson, Sachin Muralidharan, Sian Ellard, Caroline Fiona Wright, Sateesh Maddirevula, Fowzan Sami Alkuraya, null null, Neil A Hanley, Sarah E. Flanagan, Timo Otonkoski, Andrew T Hattersley, Michael Imbeault
Primate-specific ZNF808 is essential for pancreatic development in humans. Nature genetics (2023)
Rinki Murphy, Kevin Colclough, Toni I Pollin, Jennifer M Ikle, Pernille Svalastoga, Kristin A Maloney, Cécile Saint-Martin, Janne Molnes, null null, Shivani Misra, Ingvild Aukrust, Elisa de Franco, Sarah E. Flanagan, Pal Rasmus Njolstad, Liana K Billings, Katharine R Owen, Anna L Gloyn
The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinion. Communications medicine 3 (1) (2023)
Alice E Hughes, Jayne A L Houghton, Benjamin Bunce, Ali Jason Chakera, Gill Spyer, Maggie H Shepherd, Sarah E. Flanagan, Andrew T Hattersley
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)
Thomas W Laver, Elisa De Franco, Matthew B Johnson, Kashyap Amratlal Patel, Sian Ellard, Michael N Weedon, Sarah E. Flanagan, Matthew N Wakeling
SavvyCNV: Genome-wide CNV calling from off-target reads. PLoS computational biology 18 (3) (2022)
Elisa De Franco, Matthew N Wakeling, Russel D Frew, James Russ-Silsby, Catherine Peters, Stephen D Marks, Andrew T Hattersley, Sarah E. Flanagan
A biallelic loss-of-function PDIA6 variant in a second patient with polycystic kidney disease, infancy-onset diabetes, and microcephaly. Clinical genetics 102 (5) (2022)
Matthew N Wakeling, Nick D L Owens, Jessica R Hopkinson, Matthew B Johnson, Jayne A L Houghton, Antonia Dastamani, Christine S Flaxman, Rebecca C Wyatt, Thomas I Hewat, Jasmin J Hopkins, Thomas W Laver, Rachel van Heugten, Michael N Weedon, Elisa De Franco, Kashyap A Patel, Sian Ellard, Noel G Morgan, Edmund Cheesman, Indraneel Banerjee, Andrew T Hattersley, Mark J Dunne, null null, Sarah J Richardson, Sarah E. Flanagan
Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism. Nature genetics 54 (11) (2022)
Thomas I Hewat, Thomas W Laver, Jayne A L Houghton, Jonna M E Männistö, Sabah Alvi, Stephen P Brearey, Declan Cody, Antonia Dastamani, Miguel Angel De Los Santos-La Torre, Nuala Murphy, Birgit M Rami-Merhar, Birgit Wefers, Hanna Huopio, Indraneel Banerjee, Matthew B Johnson, Sarah E. Flanagan
Increased referrals for congenital hyperinsulinism genetic testing in children with trisomy 21 reflects the high burden of non-genetic risk factors in this group. Pediatric diabetes 23 (4) (2022)
Jasmin J Hopkins, Alexandra J Childs, Jayne A L Houghton, Thomas I Hewat, Navoda Atapattu, Matthew B Johnson, Kashyap Amratlal Patel, Thomas W Laver, Sarah E. Flanagan
Hyperinsulinaemic hypoglycaemia diagnosed in childhood can be monogenic. The Journal of clinical endocrinology and metabolism (2022)
Alice E Hughes, Andrew T Hattersley, Sarah E. Flanagan, Rachel M Freathy
Two decades since the fetal insulin hypothesis: what have we learned from genetics? Diabetologia 64 (4) (2021)
Sumaya Islam, Mehmet Tekman, Sarah E. Flanagan, Lisa Guay-Woodford, Khalid Hussain, Sian Ellard, Robert Kleta, Detlef Bockenhauer, Horia Stanescu, Daniela Iancu
Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD). Molecular genetics & genomic medicine (2021)
Jonathan M Locke, Petra Dusatkova, Kevin Colclough, Alice E Hughes, Raphael Sonabend, Beverley M Shields, Sarah E. Flanagan, Maggie H Shepherd, Emma L Dempster, Andrew T Hattersley, Michael N Weedon, Stepanka Pruhova, Kashyap Amratlal Patel
Association of birthweight and penetrance of diabetes in individuals with HNF4A-MODY: a cohort study. Diabetologia 65 (1) (2021)
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
Genetic and clinical heterogeneity of permanent neonatal diabetes mellitus: a single tertiary centre experience. Acta diabetologica 58 (12) (2021)
Alice E Hughes, Elisa De Franco, Evgenia Globa, Nataliya Zelinska, Dörte Hilgard, Popi Sifianou, Andrew T Hattersley, Sarah E. Flanagan
Identification of GCK-maturity-onset diabetes of the young in cases of neonatal hyperglycemia: A case series and review of clinical features. Pediatric diabetes 22 (6) (2021)
Elisa De Franco, Cécile Saint-Martin, Klaus Brusgaard, Amy E Knight Johnson, Lydia Aguilar-Bryan, Pamela Bowman, Jean-Baptiste Arnoux, Annette Rønholt Larsen, May Sanyoura, Siri Atma W Greeley, Raúl Calzada-León, Bradley Harman, Jayne A L Houghton, Elisa Nishimura-Meguro, Thomas W Laver, Sian Ellard, Daniela Del Gaudio, Henrik Thybo Christesen, Christine Bellanné-Chantelot, Sarah E. Flanagan
Update of variants identified in the pancreatic β-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes. Human mutation 41 (5) (2020)
Indraneel Banerjee, Senthil Senniappan, Thomas W Laver, Richard C Caswell, Martin Zenker, Klaus Mohnike, Tim Cheetham, Matthew N Wakeling, Dunia Ismail, Belinda Lennerz, Miranda Splitt, Merih Berberoğlu, Susann Empting, Martin Wabitsch, Simone Pötzsch, Prateek Shanmugananda, Zeynep Siklar, Charles F Verge, Michael N Weedon, Sian Ellard, Khalid Hussain, Sarah E. Flanagan
Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome. Wellcome open research 4 (2020)
Aashish Sethi, Nicola Foulds, Sarah Ehtisham, Syed Haris Ahmed, Jayne A L Houghton, Kevin Colclough, Mohammed Didi, Sarah E. Flanagan, Senthil Senniappan
Heterozygous Insulin Receptor (INSR) Mutation Associated with Neonatal Hyperinsulinemic Hypoglycaemia and Familial Diabetes Mellitus: Case Series Journal of clinical research in pediatric endocrinology 12 (4) (2020)
Matthew B Johnson, Kashyap A Patel, Elisa De Franco, William Hagopian, Michael Killian, Timothy James McDonald, Timothy I M Tree, Clara Domingo-Vila, Michelle Hudson, Suzanne Hammersley, Rebecca Dobbs, null null, Sian Ellard, Sarah E. Flanagan, Andrew T Hattersley, Richard D Oram
Type 1 diabetes can present before the age of 6 months and is characterised by autoimmunity and rapid loss of beta cells. Diabetologia 63 (12) (2020)
Jayne Al Houghton, Indraneel Banerjee, Guftar Shaikh, Shamila Jabbar, Thomas W Laver, Edmund Cheesman, Amish Chinnoy, Daphne Yau, Maria Salomon-Estebanez, Mark J Dunne, Sarah E. Flanagan
Unravelling the genetic causes of mosaic islet morphology in congenital hyperinsulinism. The journal of pathology. Clinical research 6 (1) (2019)
Indraneel Banerjee, Senthil Senniappan, Thomas W Laver, Richard C Caswell, Martin Zenker, Klaus Mohnike, Tim Cheetham, Matthew N Wakeling, Dunia Ismail, Belinda Lennerz, Miranda Splitt, Merih Berberoğlu, Susann Empting, Martin Wabitsch, Simone Pötzsch, Prateek Shanmugananda, Zeynep Siklar, Charles F Verge, Michael N Weedon, Sian Ellard, Khalid Hussain, Sarah E. Flanagan
Refinement of the critical genomic region for hypoglycaemia in the Chromosome 9p deletion syndrome. Wellcome open research (2019)
Eirini Kostopoulou, Antonia Dastamani, Silvana Caiulo, Hannah Antell, Sarah E. Flanagan, Prateek Shanmugananda
Hyperinsulinaemic hypoglycaemia: A new presentation of 16p11.2 deletion syndrome. Clinical endocrinology 90 (5) (2019)
Emregül Işık, Hüseyin Demirbilek, Jayne A L Houghton, Sian Ellard, Sarah E. Flanagan, Khalid Hussain
Congenital Hyperinsulinism and Evolution to Sulfonylurearesponsive Diabetes Later in Life due to a Novel Homozygous p.L171F ABCC8 Mutation Journal of clinical research in pediatric endocrinology 11 (1) (2018)
Hüseyin Demirbilek, Nihal Hatipoglu, Ulku Gul, Zeynep U Tatli, Sian Ellard, Sarah E. Flanagan, Elisa De Franco, Selim Kurtoglu
Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1. Pediatric diabetes 19 (5) (2018)
Thomas W Laver, Matthew N Wakeling, Janet Hong Yeow Hua, Jayne A L Houghton, Khalid Hussain, Sian Ellard, Sarah E. Flanagan
Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia. Clinical endocrinology 89 (5) (2018)
Sarah E. Flanagan, F Vairo, M B Johnson, R Caswell, T W Laver, H Lango Allen, K Hussain, S Ellard
A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia. Pediatric diabetes 18 (4) (2017)

Sarah E. Flanagan.css-eqlu8i{font-size:small;padding-left:4px;} (S E Flanagan, Sarah E Flanagan)

Publication Activity (10 Years)

Top Topics

Top Venues

Sarah E. Flanagan (S E Flanagan, Sarah E Flanagan)