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Carss, Keren J
34
results:
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1
The effects of pathogenic and likely pathogenic variants fo..:
Stefanucci, Luca
;
Collins, Janine
;
Sims, Matthew C.
...
Blood. 142 (2023) 24 - p. 2055-2068 , 2023
Link:
https://doi.org/10.1182/..
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2
Effects of protein-coding variants on blood metabolite meas..:
Nag, Abhishek
;
Dhindsa, Ryan S.
;
Middleton, Lawrence
...
The American Journal of Human Genetics. 110 (2023) 3 - p. 487-498 , 2023
Link:
https://doi.org/10.1016/..
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3
Rare variant associations with plasma protein levels in the..:
Dhindsa, Ryan S.
;
Burren, Oliver S.
;
Sun, Benjamin B.
...
Nature. 622 (2023) 7982 - p. 339-347 , 2023
Link:
https://doi.org/10.1038/..
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4
Uncovering variable neoplasms between ATM protein‐truncatin..:
Jiang, Xiao
;
O'Neill, Amanda
;
Smith, Katherine R.
...
Genes, Chromosomes and Cancer. 61 (2022) 9 - p. 523-529 , 2022
Link:
https://doi.org/10.1002/..
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5
Pharmacogenomic study of heart failure and candesartan resp..:
Dubé, Marie‐Pierre
;
Chazara, Olympe
;
Lemaçon, Audrey
...
ESC Heart Failure. 9 (2022) 5 - p. 2997-3008 , 2022
Link:
https://doi.org/10.1002/..
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6
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelop..:
Reid, Kimberley M.
;
Spaull, Robert
;
Salian, Smrithi
...
Movement Disorders. 37 (2022) 10 - p. 2139-2146 , 2022
Link:
https://doi.org/10.1002/..
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7
Using human genetics to improve safety assessment of therap..:
Carss, Keren J.
;
Deaton, Aimee M.
;
Del Rio-Espinola, Alberto
...
Nature Reviews Drug Discovery. 22 (2022) 2 - p. 145-162 , 2022
Link:
https://doi.org/10.1038/..
?
8
Ceramide synthase TLCD3B is a novel gene associated with hu..:
Bertrand, Renae Elaine
;
Wang, Jun
;
Xiong, Kaitlyn H.
...
Genetics in Medicine. 23 (2021) 3 - p. 488-497 , 2021
Link:
https://doi.org/10.1038/..
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9
Rare variant contribution to human disease in 281,104 UK Bi..:
Wang, Quanli
;
Dhindsa, Ryan S.
;
Carss, Keren
...
Nature. 597 (2021) 7877 - p. 527-532 , 2021
Link:
https://doi.org/10.1038/..
?
10
Whole-genome sequencing of patients with rare diseases in a..:
Turro, Ernest
;
Astle, William J.
;
Megy, Karyn
...
Nature. 583 (2020) 7814 - p. 96-102 , 2020
Link:
https://doi.org/10.1038/..
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11
Structural analysis of pathogenic missense mutations in GAB..:
Sanchis‐Juan, Alba
;
Hasenahuer, Marcia A.
;
Baker, James A.
...
Molecular Genetics & Genomic Medicine. 8 (2020) 7 - p. , 2020
Link:
https://doi.org/10.1002/..
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12
Deep-intronic ABCA4 variants explain missing heritability i..:
Sangermano, Riccardo
;
Garanto, Alejandro
;
Khan, Mubeen
...
Genetics in Medicine. 21 (2019) 8 - p. 1751-1760 , 2019
Link:
https://doi.org/10.1038/..
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13
ABCA4-associated disease as a model for missing heritabilit..:
Bauwens, Miriam
;
Garanto, Alejandro
;
Sangermano, Riccardo
...
Genetics in Medicine. 21 (2019) 8 - p. 1761-1771 , 2019
Link:
https://doi.org/10.1038/..
?
14
Rare Genetic Variation in 135 Families With Family History ..:
Sanchis-Juan, Alba
;
Bitsara, Christina
;
Low, Kay Yi
...
Frontiers in Genetics. 10 (2019) - p. , 2019
Link:
https://doi.org/10.3389/..
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15
Delineating the expanding phenotype associated with SCAPER ..:
Fasham, James
;
Arno, Gavin
;
Lin, Siying
...
American Journal of Medical Genetics Part A. 179 (2019) 8 - p. 1665-1671 , 2019
Link:
https://doi.org/10.1002/..
1-15