Elisa De Franco

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 26

Top Topics

Glycemic Control

Heat Shock Protein

Endoplasmic Reticulum

Top Venues

The Journal of experimental medicine

EMBO molecular medicine

Diabetic medicine : a journal of the British Diabetic Association

Nature genetics

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

Publications

Matthew B Johnson, Masato Ogishi, Clara Domingo-Vila, Elisa De Franco, Matthew N Wakeling, Zineb Imane, Brittany Resnick, Evangelia Williams, Rui Pedro Galao, Richard C Caswell, James Russ-Silsby, Yoann Seeleuthner, Darawan Rinchai, Iris Fagniez, Basilin Benson, Matthew J Dufort, Cate Speake, Megan E Smithmyer, Michelle Hudson, Rebecca Dobbs, null null, Zoe Quandt, Andrew T Hattersley, Peng Zhang, Stéphanie Boisson-Dupuis, Mark S Anderson, Jean Laurent Casanova, Timothy I M Tree, Richard D Oram
Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency. The Journal of experimental medicine 221 (6) (2024)
Matthew B Johnson, Masato Ogishi, Clara Domingo-Vila, Elisa De Franco, Matthew N Wakeling, Zineb Imane, Brittany Resnick, Evangelia Williams, Rui Pedro Galao, Richard C Caswell, James Russ-Silsby, Yoann Seeleuthner, Darawan Rinchai, Iris Fagniez, Basilin Benson, Matthew J Dufort, Cate Speake, Megan E Smithmyer, Michelle Hudson, Rebecca Dobbs, null null, Zoe Quandt, Andrew T Hattersley, Peng Zhang, Stéphanie Boisson-Dupuis, Mark S Anderson, Jean Laurent Casanova, Timothy I M Tree, Richard D Oram
Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency. The Journal of experimental medicine 221 (6) (2024)
Matthew B Johnson, Masato Ogishi, Clara Domingo-Vila, Elisa De Franco, Matthew N Wakeling, Zineb Imane, Brittany Resnick, Evangelia Williams, Rui Pedro Galao, Richard C Caswell, James Russ-Silsby, Yoann Seeleuthner, Darawan Rinchai, Iris Fagniez, Basilin Benson, Matthew J Dufort, Cate Speake, Megan E Smithmyer, Michelle Hudson, Rebecca Dobbs, null null, Zoe Quandt, Andrew T Hattersley, Peng Zhang, Stéphanie Boisson-Dupuis, Mark S Anderson, Jean Laurent Casanova, Timothy I M Tree, Richard D Oram
Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency. The Journal of experimental medicine 221 (6) (2024)
Matthew B Johnson, Masato Ogishi, Clara Domingo-Vila, Elisa De Franco, Matthew N Wakeling, Zineb Imane, Brittany Resnick, Evangelia Williams, Rui Pedro Galao, Richard C Caswell, James Russ-Silsby, Yoann Seeleuthner, Darawan Rinchai, Iris Fagniez, Basilin Benson, Matthew J Dufort, Cate Speake, Megan E Smithmyer, Michelle Hudson, Rebecca Dobbs, null null, Zoe Quandt, Andrew T Hattersley, Peng Zhang, Stéphanie Boisson-Dupuis, Mark S Anderson, Jean Laurent Casanova, Timothy I M Tree, Richard D Oram
Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency. The Journal of experimental medicine 221 (6) (2024)
Matthew B Johnson, Masato Ogishi, Clara Domingo-Vila, Elisa De Franco, Matthew N Wakeling, Zineb Imane, Brittany Resnick, Evangelia Williams, Rui Pedro Galao, Richard C Caswell, James Russ-Silsby, Yoann Seeleuthner, Darawan Rinchai, Iris Fagniez, Basilin Benson, Matthew J Dufort, Cate Speake, Megan E Smithmyer, Michelle Hudson, Rebecca Dobbs, null null, Zoe Quandt, Andrew T Hattersley, Peng Zhang, Stéphanie Boisson-Dupuis, Mark S Anderson, Jean Laurent Casanova, Timothy I M Tree, Richard D Oram
Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency. The Journal of experimental medicine 221 (6) (2024)
Matthew B Johnson, Masato Ogishi, Clara Domingo-Vila, Elisa De Franco, Matthew N Wakeling, Zineb Imane, Brittany Resnick, Evangelia Williams, Rui Pedro Galao, Richard C Caswell, James Russ-Silsby, Yoann Seeleuthner, Darawan Rinchai, Iris Fagniez, Basilin Benson, Matthew J Dufort, Cate Speake, Megan E Smithmyer, Michelle Hudson, Rebecca Dobbs, null null, Zoe Quandt, Andrew T Hattersley, Peng Zhang, Stéphanie Boisson-Dupuis, Mark S Anderson, Jean Laurent Casanova, Timothy I M Tree, Richard D Oram
Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency. The Journal of experimental medicine 221 (6) (2024)
Matthew B Johnson, Masato Ogishi, Clara Domingo-Vila, Elisa De Franco, Matthew N Wakeling, Zineb Imane, Brittany Resnick, Evangelia Williams, Rui Pedro Galao, Richard C Caswell, James Russ-Silsby, Yoann Seeleuthner, Darawan Rinchai, Iris Fagniez, Basilin Benson, Matthew J Dufort, Cate Speake, Megan E Smithmyer, Michelle Hudson, Rebecca Dobbs, null null, Zoe Quandt, Andrew T Hattersley, Peng Zhang, Stéphanie Boisson-Dupuis, Mark S Anderson, Jean Laurent Casanova, Timothy I M Tree, Richard D Oram
Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency. The Journal of experimental medicine 221 (6) (2024)
Matthew B Johnson, Masato Ogishi, Clara Domingo-Vila, Elisa De Franco, Matthew N Wakeling, Zineb Imane, Brittany Resnick, Evangelia Williams, Rui Pedro Galao, Richard C Caswell, James Russ-Silsby, Yoann Seeleuthner, Darawan Rinchai, Iris Fagniez, Basilin Benson, Matthew J Dufort, Cate Speake, Megan E Smithmyer, Michelle Hudson, Rebecca Dobbs, null null, Zoe Quandt, Andrew T Hattersley, Peng Zhang, Stéphanie Boisson-Dupuis, Mark S Anderson, Jean Laurent Casanova, Timothy I M Tree, Richard D Oram
Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency. The Journal of experimental medicine 221 (6) (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)
Luke A Perera, Andrew T Hattersley, Heather P Harding, Matthew N Wakeling, Sarah E Flanagan, Ibrahim Mohsina, Jamal Raza, Alice Gardham, David Ron, Elisa De Franco
Infancy-onset diabetes caused by de-regulated AMPylation of the human endoplasmic reticulum chaperone BiP. EMBO molecular medicine 15 (3) (2023)
Luke A Perera, Andrew T Hattersley, Heather P Harding, Matthew N Wakeling, Sarah E Flanagan, Ibrahim Mohsina, Jamal Raza, Alice Gardham, David Ron, Elisa De Franco
Infancy-onset diabetes caused by de-regulated AMPylation of the human endoplasmic reticulum chaperone BiP. EMBO molecular medicine (2023)
Shenali A Amaratunga, Tara Hussein Tayeb, Rozhan N Muhamad Sediq, Fareda K Hama Salih, Petra Dusatkova, Matthew N Wakeling, Elisa De Franco, Stepanka Pruhova, Jan Lebl
Paediatric diabetes subtypes in a consanguineous population: a single-centre cohort study from Kurdistan, Iraq. Diabetologia (2023)
Luke A Perera, Andrew T Hattersley, Heather P Harding, Matthew N Wakeling, Sarah E Flanagan, Ibrahim Mohsina, Jamal Raza, Alice Gardham, David Ron, Elisa De Franco
Infancy-onset diabetes caused by de-regulated AMPylation of the human endoplasmic reticulum chaperone BiP. EMBO molecular medicine 15 (3) (2023)
Luke A Perera, Andrew T Hattersley, Heather P Harding, Matthew N Wakeling, Sarah E Flanagan, Ibrahim Mohsina, Jamal Raza, Alice Gardham, David Ron, Elisa De Franco
Infancy-onset diabetes caused by de-regulated AMPylation of the human endoplasmic reticulum chaperone BiP. EMBO molecular medicine 15 (3) (2023)
Luke A Perera, Andrew T Hattersley, Heather P Harding, Matthew N Wakeling, Sarah E Flanagan, Ibrahim Mohsina, Jamal Raza, Alice Gardham, David Ron, Elisa De Franco
Infancy-onset diabetes caused by de-regulated AMPylation of the human endoplasmic reticulum chaperone BiP. EMBO molecular medicine 15 (3) (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)
Evgenia Globa, Nataliya Zelinska, Matthew B Johnson, Sarah E Flanagan, Elisa De Franco
Neonatal and early onset diabetes in Ukraine: atypical features and mortality. Diabetic medicine : a journal of the British Diabetic Association (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)
Elisa De Franco
Neonatal diabetes caused by disrupted pancreatic and β-cell development. Diabetic medicine : a journal of the British Diabetic Association 38 (12) (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)
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)
Yasemin Denkboy Ongen, Erdal Eren, Özgecan Demirbaş, Elif Söbü, Sian Ellard, Elisa De Franco, Ömer Tarım
Genotype and Phenotype Heterogeneity in Neonatal Diabetes: A Single Centre Experience in Turkey Journal of clinical research in pediatric endocrinology 13 (1) (2020)
Pamela Bowman, Frances Mathews, Fabrizio Barbetti, Maggie H Shepherd, Janine Sanchez, Barbara Piccini, Jacques Beltrand, Lisa R Letourneau-Freiberg, Michel Polak, Siri Atma W Greeley, Eamon Rawlins, Tarig Babiker, Nicholas J Thomas, Elisa De Franco, Sian Ellard, Sarah E Flanagan, Andrew T Hattersley, null null
Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated ABCC8 Permanent Neonatal Diabetes. Diabetes care 44 (1) (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)
Elisa De Franco, Richard Caswell, Matthew B Johnson, Matthew N Wakeling, Amnon Zung, Vũ Chí Dũng, Cấn Thị Bích Ngọc, Rajiv Goonetilleke, Maritza Vivanco Jury, Mohammed El-Khateeb, Sian Ellard, Sarah E Flanagan, David Ron, Andrew T Hattersley
De Novo Mutations in EIF2B1 Affecting eIF2 Signaling Cause Neonatal/Early-Onset Diabetes and Transient Hepatic Dysfunction. Diabetes 69 (3) (2019)