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Thomas W. Laver

clinical and biomedical science
H指数:23
被引数:2,425

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Systematic analysis of loss-of-function variants across MODY genes demonstrates gene-specific effects and expands the spectrum of INS variants causing MODY

对MODY基因中失活功能变异的系统分析表明了基因特异性的影响，并扩展了导致MODY的INS变异谱。

Diabetologia
IF10.2
2026-03-030
OAAI
Thomas W. Laver; Aparajita Sriram; Matthew N. Wakeling; Zeynep Şiklar; Farah Kobaisi; Oguzhan Kalyon; Andrew T. Hattersley; Michael N. Weedon; Sarah E. Flanagan; Elisa De Franco; Kevin Colclough; Kashyap A. Patel
Recessive TMEM167A variants cause neonatal diabetes, microcephaly, and epilepsy syndrome
JOURNAL OF CLINICAL INVESTIGATION
IF13.6
2025-11-171
OA
Virgilio, Enrico; Tielens, Sylvia; Bonfield, Georgia; Nian, Fang-Shin; Sawatani, Toshiaki; Vinci, Chiara; Govier, Molly; Montaser, Hossam; Lartigue, Romane; Arunagiri, Anoop; Liboz, Alexandrine; Da Silva, Flavia Natividade; Lytrivi, Maria; Papadopoulou, Theodora; Wakeling, Matthew N.; Russ-Silsby, James; Bowman, Pamela; Johnson, Matthew B.; Laver, Thomas W.; Piron, Anthony; Yi, Xiaoyan; Fantuzzi, Federica; Hendrickx, Sirine; Igoillo-Esteve, Mariana; Santacreu, Bruno J.; Suntharesan, Jananie; Ghildiyal, Radha; Hegde, Darshan; Shah, Nikhil; Acar, Sezer; Donmez, Beyhan Ozkaya; Ozkan, Behzat; Mohsin, Fauzia; Talaat, Iman M.; Abbas, Mohamed Tarek; Abbas, Omar Tarek; Alghamdi, Hamed Ali; Kandemir, Nurgun; Flanagan, Sarah E.; Scharfmann, Raphael; Arvan, Peter; Raoux, Matthieu; Nguyen, Laurent; Hattersley, Andrew T.; Cnop, Miriam; De Franco, Elisa
Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity

HK1中的非编码顺式调控变异导致先天性高胰岛素血症，且疾病严重程度具有差异性。

GENOME MEDICINE
IF11.2
2025-03-030
OA
Bennett, Jasmin J.; Saint-Martin, Cecile; Neumann, Bianca; Mannisto, Jonna M. E.; Houghton, Jayne A. L.; Empting, Susann; Johnson, Matthew B.; Laver, Thomas W.; Locke, Jonathan M.; Spurrier, Benjamin; Wakeling, Matthew N.; Dastamani, Antonia; Demirbilek, Huseyin; Mitchell, John; Stange, Markus; Int Congenital Hyperinsulinism Consortium, Marie-Therese; Mohnike, Klaus; Arnoux, Jean-Baptiste; Owens, Nick D. L.; Zenker, Martin; Bellanne-Chantelot, Christine; Flanagan, Sarah E.
Congenital Hyperinsulinism and Novel KDM6A Duplications -Resolving Pathogenicity With Genome and Epigenetic Analyses
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
IF5.1
2024-07-301
OA
Mannisto, Jonna M. E.; Hopkins, Jasmin J.; Hewat, Thomas, I; Nasser, Fatima; Burrage, Joseph; Dastamani, Antonia; Mirante, Alice; Murphy, Nuala; Rzasa, Jessica; Kerkhof, Jennifer; Relator, Raissa; Johnson, Matthew B.; Laver, Thomas W.; Weymouth, Luke; Houghton, Jayne A. L.; Wakeling, Matthew N.; Sadikovic, Bekim; Dempster, Emma L.; Flanagan, Sarah E.
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements

染色体20 p11.2缺失通过FOXA2或其调控元件的缺失导致先天性高胰岛素血症

EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2024-04-113
OAAI
Laver, Thomas W.; Wakeling, Matthew N.; Caswell, Richard C.; Bunce, Benjamin; Yau, Daphne; Mannisto, Jonna M. E.; Houghton, Jayne A. L.; Hopkins, Jasmin J.; Weedon, Michael N.; Saraff, Vrinda; Kershaw, Melanie; Honey, Engela M.; Murphy, Nuala; Giri, Dinesh; Nath, Stuart; Saredo, Ana Tangari; Banerjee, Indraneel; Hussain, Khalid; Owens, Nick D. L.; Flanagan, Sarah E.
Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism

破坏HK1组织特异性调控元件的非编码变异导致先天性高胰岛素血症

NATURE GENETICS
IF31.8
2022-11-0423
OAAI
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.
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
IF5.6
2022-03-235
OAAI
Hewat, Thomas, I; Laver, Thomas W.; Houghton, Jayne A. L.; Mannisto, Jonna M. E.; Alvi, Sabah; Brearey, Stephen P.; Cody, Declan; Dastamani, Antonia; De los Santos La Torre, Miguel; Murphy, Nuala; Rami-Merhar, Birgit; Wefers, Birgit; Huopio, Hanna; Banerjee, Indraneel; Johnson, Matthew B.; Flanagan, Sarah E.
YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress
JOURNAL OF CLINICAL INVESTIGATION
IF13.6
2020-11-0961
OAAI
De Franco, Elisa; Lytrivi, Maria; Ibrahim, Hazem; Montaser, Hossam; Wakeling, Matthew N.; Fantuzzi, Federica; Patel, Kashyap; Demarez, Celine; Cai, Ying; Igoillo-Esteve, Mariana; Cosentino, Cristina; Lithovius, Vaino; Vihinen, Helena; Jokitalo, Eija; Laver, Thomas W.; Johnson, Matthew B.; Sawatani, Toshiaki; Shakeri, Hadis; Pachera, Nathalie; Haliloglu, Belma; Ozbek, Mehmet Nuri; Unal, Edip; Yildirim, Ruken; Godbole, Tushar; Yildiz, Melek; Aydin, Banu; Bilheu, Angeline; Suzuki, Ikuo; Flanagan, Sarah E.; Vanderhaeghen, Pierre; Senee, Valerie; Julier, Cecile; Marchetti, Piero; Eizirik, Decio L.; Ellard, Sian; Saarimaki-Vire, Jonna; Otonkoski, Timo; Cnop, Miriam; Hattersley, Andrew T.

研究方向

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S
Sarah E. Flanagan
H 指数:65论文数:436被引数:1.7万
A
Andrew T. Hattersley
H 指数:161论文数:1,313被引数:12.7万
M
Michael N. Weedon
H 指数:105论文数:497被引数:7.4万
S
Sian Ellard
H 指数:118论文数:918被引数:5.5万
K
Kashyap Patel
H 指数:34论文数:227被引数:4,936
J
Jayne Houghton
H 指数:23论文数:101被引数:2,470
M
Matthew N. Wakeling
H 指数:21论文数:85被引数:2,003
M
Matthew B. Johnson
H 指数:30论文数:132被引数:2,811
K
Kevin Colclough
H 指数:40论文数:161被引数:6,808
E
Elisa De Franco
H 指数:34论文数:164被引数:5,138