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The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study
The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study
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The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study

De Franco, Elisa, PhD ; Flanagan, Sarah E, PhD ; Houghton, Jayne AL, PhD ; Allen, Hana Lango, PhD ; Mackay, Deborah JG, PhD ; Temple, I Karen, Prof ; Ellard, Sian, Prof ; Hattersley, Andrew T, Prof

The Lancet (British edition), 2015-09, Vol.386 (9997), p.957-963 [Periódico revisado por pares]

England: Elsevier Ltd

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2
Differential IRF8 Transcription Factor Requirement Defines Two Pathways of Dendritic Cell Development in Humans
Differential IRF8 Transcription Factor Requirement Defines Two Pathways of Dendritic Cell Development in Humans
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Differential IRF8 Transcription Factor Requirement Defines Two Pathways of Dendritic Cell Development in Humans

Cytlak, Urszula ; Resteu, Anastasia ; Pagan, Sarah ; Green, Kile ; Milne, Paul ; Maisuria, Sheetal ; McDonald, David ; Hulme, Gillian ; Filby, Andrew ; Carpenter, Benjamin ; Queen, Rachel ; Hambleton, Sophie ; Hague, Rosie ; Lango Allen, Hana ; Thaventhiran, James E.D. ; Doody, Gina ; Collin, Matthew ; Bigley, Venetia

Immunity (Cambridge, Mass.), 2020-08, Vol.53 (2), p.353-370.e8 [Periódico revisado por pares]

United States: Elsevier Inc

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3
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease
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Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease

Flanagan, Sarah E ; Haapaniemi, Emma ; Russell, Mark A ; Caswell, Richard ; Allen, Hana Lango ; De Franco, Elisa ; McDonald, Timothy J ; Rajala, Hanna ; Ramelius, Anita ; Barton, John ; Heiskanen, Kaarina ; Heiskanen-Kosma, Tarja ; Kajosaari, Merja ; Murphy, Nuala P ; Milenkovic, Tatjana ; Seppänen, Mikko ; Lernmark, Åke ; Mustjoki, Satu ; Otonkoski, Timo ; Kere, Juha ; Morgan, Noel G ; Ellard, Sian ; Hattersley, Andrew T

Nature genetics, 2014-08, Vol.46 (8), p.812-814 [Periódico revisado por pares]

United States: Nature Publishing Group

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4
GIGYF1 loss of function is associated with clonal mosaicism and adverse metabolic health
GIGYF1 loss of function is associated with clonal mosaicism and adverse metabolic health
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GIGYF1 loss of function is associated with clonal mosaicism and adverse metabolic health

Zhao, Yajie ; Stankovic, Stasa ; Koprulu, Mine ; Wheeler, Eleanor ; Day, Felix R ; Lango Allen, Hana ; Kerrison, Nicola D ; Pietzner, Maik ; Loh, Po-Ru ; Wareham, Nicholas J ; Langenberg, Claudia ; Ong, Ken K ; Perry, John R B

Nature communications, 2021-07, Vol.12 (1), p.4178-4178, Article 4178 [Periódico revisado por pares]

England: Nature Publishing Group

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5
Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes
Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes
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Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes

Johnson, Matthew B ; De Franco, Elisa ; Lango Allen, Hana ; Al Senani, Aisha ; Elbarbary, Nancy ; Siklar, Zeynep ; Berberoglu, Merih ; Imane, Zineb ; Haghighi, Alireza ; Razavi, Zahra ; Ullah, Irfan ; Alyaarubi, Saif ; Gardner, Daphne ; Ellard, Sian ; Hattersley, Andrew T ; Flanagan, Sarah E

Diabetes (New York, N.Y.), 2017-08, Vol.66 (8), p.2316-2322 [Periódico revisado por pares]

United States: American Diabetes Association

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6
Thousands of missing variants in the UK Biobank are recoverable by genome realignment
Thousands of missing variants in the UK Biobank are recoverable by genome realignment
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Thousands of missing variants in the UK Biobank are recoverable by genome realignment

Jia, Tongqiu ; Munson, Brenton ; Lango Allen, Hana ; Ideker, Trey ; Majithia, Amit R.

Annals of human genetics, 2020-05, Vol.84 (3), p.214-220 [Periódico revisado por pares]

England: Wiley Subscription Services, Inc

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7
GATA4 Mutations Are a Cause of Neonatal and Childhood-Onset Diabetes
GATA4 Mutations Are a Cause of Neonatal and Childhood-Onset Diabetes
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GATA4 Mutations Are a Cause of Neonatal and Childhood-Onset Diabetes

SHAW-SMITH, Charles ; DE FRANCO, Elisa ; MIEDZYBRODZKA, Zosia ; DEJA, Grazyna ; WLODARSKA, Iwona ; MLYNARSKI, Wojciech ; FERRER, Jorge ; HATTERSLEY, Andrew T ; ELLARD, Sian ; ALLEN, Hana Lango ; BATLLE, Marta ; FLANAGAN, Sarah E ; BOROWIEC, Maciej ; TAPLIN, Craig E ; VAN ALFEN-VAN DER VELDEN, Janiëlle ; CRUZ-ROJO, Jaime ; PEREZ DE NANCLARES, Guiomar

Diabetes (New York, N.Y.), 2014-08, Vol.63 (8), p.2888-2894 [Periódico revisado por pares]

Alexandria, VA: American Diabetes Association

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8
Analysis of Transcription Factors Key for Mouse Pancreatic Development Establishes NKX2-2 and MNX1 Mutations as Causes of Neonatal Diabetes in Man
Analysis of Transcription Factors Key for Mouse Pancreatic Development Establishes NKX2-2 and MNX1 Mutations as Causes of Neonatal Diabetes in Man
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Analysis of Transcription Factors Key for Mouse Pancreatic Development Establishes NKX2-2 and MNX1 Mutations as Causes of Neonatal Diabetes in Man

Flanagan, Sarah E. ; De Franco, Elisa ; Lango Allen, Hana ; Zerah, Michele ; Abdul-Rasoul, Majedah M. ; Edge, Julie A. ; Stewart, Helen ; Alamiri, Elham ; Hussain, Khalid ; Wallis, Sam ; de Vries, Liat ; Rubio-Cabezas, Oscar ; Houghton, Jayne A.L. ; Edghill, Emma L. ; Patch, Ann-Marie ; Ellard, Sian ; Hattersley, Andrew T.

Cell metabolism, 2014-01, Vol.19 (1), p.146-154 [Periódico revisado por pares]

United States: Elsevier Inc

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9
A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development
A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development
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A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development

De Franco, Elisa ; Watson, Rachel A. ; Weninger, Wolfgang J. ; Wong, Chi C. ; Flanagan, Sarah E. ; Caswell, Richard ; Green, Angela ; Tudor, Catherine ; Lelliott, Christopher J. ; Geyer, Stefan H. ; Maurer-Gesek, Barbara ; Reissig, Lukas F. ; Lango Allen, Hana ; Caliebe, Almuth ; Siebert, Reiner ; Holterhus, Paul Martin ; Deeb, Asma ; Prin, Fabrice ; Hilbrands, Robert ; Heimberg, Harry ; Ellard, Sian ; Hattersley, Andrew T. ; Barroso, Inês

American journal of human genetics, 2019-05, Vol.104 (5), p.985-989 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Predicting the Occurrence of Variants in RAG1 and RAG2
Predicting the Occurrence of Variants in RAG1 and RAG2
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Predicting the Occurrence of Variants in RAG1 and RAG2

Lawless, Dylan ; Lango Allen, Hana ; Thaventhiran, James ; Hodel, Flavia ; Anwar, Rashida ; Fellay, Jacques ; Walter, Jolan E. ; Savic, Sinisa

Journal of clinical immunology, 2019-10, Vol.39 (7), p.688-701 [Periódico revisado por pares]

New York: Springer US

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