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/vufind/Search/Results?lookfor=%22Laver%2C+Thomas+W%22&type=Person&sort=year
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PubPharm (38)
1
The penetrance of age-related monogenic disease depends on ascertainment context
enthalten in:
bioRxiv.org
| 2024
von
Mirshahi, U.
|
Colclough, K.
|
Wright, C.
| +12
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2
A novel disease mechanism leading to the expression of a disallowed gene in the pancreatic beta-cell identified by non-coding, regulatory mutations controlling
HK1
enthalten in:
bioRxiv.org
| 2024
von
Wakeling, M.
|
Owens, N.
|
Hopkinson, J.
| +20
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3
REVEL is better at predicting pathogenicity of loss-of-function than gain-of-function variants
enthalten in:
bioRxiv.org
| 2024
von
Hopkins, J.
|
Wakeling, M.
|
Johnson, M.
| +2
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4
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements
enthalten in:
European journal of human genetics : EJHG
| 2024
von
Laver, T.
|
Wakeling, M.
|
Caswell, R.
| +17
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5
The Role of ONECUT1 Variants in Monogenic and Type 2 Diabetes Mellitus
enthalten in:
Diabetes
| 2023
von
Russ-Silsby, J.
|
Patel, K.
|
Laver, T.
| +8
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6
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the likely disruption of
FOXA2
enthalten in:
bioRxiv.org
| 2023
von
Laver, T.
|
Wakeling, M.
|
Caswell, R.
| +16
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7
Hyperinsulinemic Hypoglycemia Diagnosed in Childhood Can Be Monogenic
enthalten in:
The Journal of clinical endocrinology and metabolism
| 2023
von
Hopkins, J.
|
Childs, A.
|
Houghton, J.
| +6
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8
Evaluation of evidence for pathogenicity demonstrates that
BLK, KLF11
and
PAX4
should not be included in diagnostic testing for MODY
enthalten in:
bioRxiv.org
| 2023
von
Laver, T.
|
Wakeling, M.
|
Knox, O.
| +6
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9
Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism
enthalten in:
Nature genetics
| 2022
von
Wakeling, M.
|
Owens, N.
|
Hopkinson, J.
| +34
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10
Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts
enthalten in:
American journal of human genetics
| 2022
von
Mirshahi, U.
|
Colclough, K.
|
Wright, C.
| +13
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Zeitschriftentitel
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bioRxiv.org
4
Diabetes
4
Human mutation
3
The Journal of clinical endocrinology and metab...
2
American journal of human genetics
2
Wellcome open research
1
Clinical chemistry
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1
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Thema
24
Journal Article
20
Research Support, Non-U.S. Gov't
7
570
7
Biology
4
congenital hyperinsulinism
3
ABCC8 protein, human
3
Hepatocyte Nuclear Factor 1-alpha
3
Hepatocyte Nuclear Factor 4
3
Sulfonylurea Receptors
2
ABCC8
2
Biomarkers
2
HNF1A protein, human
2
HNF4A protein, human
2
Kir6.2 channel
2
PLIN1 protein, human
2
Perilipin-1
2
Potassium Channels, Inwardly Rectifying
2
UCP2
2
genetic testing
2
genetics
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Erscheinungszeitraum
27
2020-
11
2010-2019
Erscheinungsjahr(e)
Von:
Bis:
Sprache
35
Englisch
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