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Carss, Keren J
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1

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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2

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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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

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/..
 
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7

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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8

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/..
 
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9

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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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

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/..
 
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13

Unique noncoding variants upstream of PRDM13 are associated..:

Silva, Raquel S. ; Arno, Gavin ; Cipriani, Valentina...
Human Mutation.  40 (2019)  5 - p. 578-587 , 2019
Link: https://doi.org/10.1002/..
 
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14

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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15

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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