E-LIB Suche - Ergebnisse für: Laver, Thomas W.

1

Chromosome 20p11.2 deletions cause congenital hyperinsulini..:

Laver, Thomas W. ; Wakeling, Matthew N. ; Caswell, Richard C....
European Journal of Human Genetics. 32 (2024) 7 - p. 813-818 , 2024

Link: https://doi.org/10.1038/..

2

REVEL Is Better at Predicting Pathogenicity of Loss-of-Func..:

Hopkins, Jasmin J. ; Wakeling, Matthew N. ; Johnson, Matthew B....
Human Mutation. 2023 (2023) - p. 1-6 , 2023

Link: https://doi.org/10.1155/..

3

Increased referrals for congenital hyperinsulinism genetic ..:

Hewat, Thomas I. ; Laver, Thomas W. ; Houghton, Jayne A. L....
Pediatric Diabetes. 23 (2022) 4 - p. 457-461 , 2022

Link: https://doi.org/10.1111/..

4

Hyperinsulinemic Hypoglycemia Diagnosed in Childhood Can Be..:

Hopkins, Jasmin J ; Childs, Alexandra J ; Houghton, Jayne A L...
The Journal of Clinical Endocrinology & Metabolism. 108 (2022) 3 - p. 680-687 , 2022

Link: https://doi.org/10.1210/..

5

Non-coding variants disrupting a tissue-specific regulatory..:

Wakeling, Matthew N. ; Owens, Nick D. L. ; Hopkinson, Jessica R....
Nature Genetics. 54 (2022) 11 - p. 1615-1620 , 2022

Link: https://doi.org/10.1038/..

6

SavvyCNV: Genome-wide CNV calling from off-target reads:

Laver, Thomas W. ; De Franco, Elisa ; Johnson, Matthew B....
PLOS Computational Biology. 18 (2022) 3 - p. e1009940 , 2022

Link: https://doi.org/10.1371/..

7

PLIN1 Haploinsufficiency Causes a Favorable Metabolic Profi..:

Patel, Kashyap A ; Burman, Shivang ; Laver, Thomas W...
The Journal of Clinical Endocrinology & Metabolism. 107 (2022) 6 - p. e2318-e2323 , 2022

Link: https://doi.org/10.1210/..

8

Reduced penetrance of MODY-associated HNF1A/HNF4A variants ..:

Mirshahi, Uyenlinh L ; Colclough, Kevin ; Wright, Caroline F...
The American Journal of Human Genetics. 109 (2022) 11 - p. 2018-2028 , 2022

Link: https://doi.org/10.1016/..

9

Refinement of the critical genomic region for congenital hy..:

Banerjee, Indraneel ; Senniappan, Senthil ; Laver, Thomas W....
Wellcome Open Research. 4 (2020) - p. 149 , 2020

Link: https://doi.org/10.12688..

10

YIPF5 mutations cause neonatal diabetes and microcephaly th..:

De Franco, Elisa ; Lytrivi, Maria ; Ibrahim, Hazem...
Journal of Clinical Investigation. 130 (2020) 12 - p. 6338-6353 , 2020

Link: https://doi.org/10.1172/..

11

Update of variants identified in the pancreatic β‐cell KATP..:

De Franco, Elisa ; Saint‐Martin, Cécile ; Brusgaard, Klaus...
Human Mutation. 41 (2020) 5 - p. 884-905 , 2020

Link: https://doi.org/10.1002/..

12

Using referral rates for genetic testing to determine the i..:

Yau, Daphne ; Laver, Thomas W. ; Dastamani, Antonia...
PLOS ONE. 15 (2020) 2 - p. e0228417 , 2020

Link: https://doi.org/10.1371/..

13

Noninvasive Fetal Genotyping by Droplet Digital PCR to Iden..:

Caswell, Richard C ; Snowsill, Tristan ; Houghton, Jayne A L...
Clinical Chemistry. 66 (2020) 7 - p. 958-965 , 2020

Link: https://doi.org/10.1093/..

14

Misannotation of multiple-nucleotide variants risks misdiag..:

Wakeling, Matthew N. ; Laver, Thomas W. ; Colclough, Kevin...
Wellcome Open Research. 4 (2020) - p. 145 , 2020

Link: https://doi.org/10.12688..

15

Assessing the Pathogenicity, Penetrance, and Expressivity o..:

Wright, Caroline F. ; West, Ben ; Tuke, Marcus...
The American Journal of Human Genetics. 104 (2019) 2 - p. 275-286 , 2019

Link: https://doi.org/10.1016/..