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

por De Franco, Elisa, Flanagan, Sarah E, Houghton, Jayne AL, Allen, Hana Lango, Mackay, Deborah JG, Temple, I Karen, Ellard, Sian, Hattersley, Andrew T
Publicado 2015

Transient Neonatal Diabetes: An Etiologic Clue for the Adult Diabetologist

por Novak, Anela, Bowman, Pamela, Kraljevic, Ivana, Tripolski, Marija, Houghton, Jayne A.L., De Franco, Elisa, Shepherd, Maggie H., Skrabic, Veselin, Patel, Kashyap A.
Publicado 2020

Unravelling the genetic causes of mosaic islet morphology in congenital hyperinsulinism

por Houghton, Jayne AL, Banerjee, Indraneel, Shaikh, Guftar, Jabbar, Shamila, Laver, Thomas W, Cheesman, Edmund, Chinnoy, Amish, Yau, Daphne, Salomon‐Estebanez, Maria, Dunne, Mark J, Flanagan, Sarah E
Publicado 2019

Noninvasive Fetal Genotyping by Droplet Digital PCR to Identify Maternally Inherited Monogenic Diabetes Variants

por Caswell, Richard C., Snowsill, Tristan, Houghton, Jayne A.L., Chakera, Ali J., Shepherd, Maggie H., Laver, Thomas W., Knight, Bridget A., Wright, David, Hattersley, Andrew T., Ellard, Sian
Publicado 2020

Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation

por Houghton, Jayne A.L., Swift, Galvin H., Shaw-Smith, Charles, Flanagan, Sarah E., de Franco, Elisa, Caswell, Richard, Hussain, Khalid, Mohamed, Sarar, Abdulrasoul, Majedah, Hattersley, Andrew T., MacDonald, Raymond J., Ellard, Sian
Publicado 2016

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

por 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.
Publicado 2014

Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis

por Weedon, Michael N., Cebola, Ines, Patch, Ann-Marie, Flanagan, Sarah E., De Franco, Elisa, Caswell, Richard, Rodríguez-Seguí, Santiago A., Shaw-Smith, Charles, Cho, Candy H-H., Allen, Hana Lango, Houghton, Jayne AL., Roth, Christian L., Chen, Rongrong, Hussain, Khalid, Marsh, Phil, Vallier, Ludovic, Murray, Anna, Ellard, Sian, Ferrer, Jorge, Hattersley, Andrew T.
Publicado 2013

Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism

por Wakeling, Matthew N., Owens, Nick D. L., Hopkinson, Jessica R., Johnson, Matthew B., Houghton, Jayne A.L., Dastamani, Antonia, Flaxman, Christine S., Wyatt, Rebecca C., Hewat, Thomas I., Hopkins, Jasmin J., Laver, Thomas W., van Heugten, Rachel, Weedon, Michael N., De Franco, Elisa, Patel, Kashyap A., Ellard, Sian, Morgan, Noel G., Cheesman, Edmund, Banerjee, Indraneel, Hattersley, Andrew T., Dunne, Mark J., Richardson, Sarah J., Flanagan, Sarah E.
Publicado 2022