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Moriel Singer-Berk
Moriel Singer-Berk
Neznámá organizace
E-mailová adresa ověřena na: broadinstitute.org
Název
Citace
Citace
Rok
The mutational constraint spectrum quantified from variation in 141,456 humans
KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alföldi, Q Wang, ...
Nature 581 (7809), 434-443, 2020
83542020
Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes
KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alföldi, Q Wang, ...
biorxiv, 531210, 2019
12352019
Variant interpretation using population databases: Lessons from gnomAD
S Gudmundsson, M Singer‐Berk, NA Watts, W Phu, JK Goodrich, ...
Human mutation 43 (8), 1012-1030, 2022
4092022
Transcript expression-aware annotation improves rare variant interpretation
BB Cummings, KJ Karczewski, JA Kosmicki, EG Seaby, NA Watts, ...
Nature 581 (7809), 452-458, 2020
1902020
Recommendations for clinical interpretation of variants found in non-coding regions of the genome
JM Ellingford, JW Ahn, RD Bagnall, D Baralle, S Barton, C Campbell, ...
Genome medicine 14 (1), 73, 2022
1412022
The landscape of tolerated genetic variation in humans and primates
H Gao, T Hamp, J Ede, JG Schraiber, J McRae, M Singer-Berk, Y Yang, ...
Science 380 (6648), eabn8153, 2023
1012023
Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans
KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alföldi, Q Wang, ...
Nature 590 (7846), E53-E53, 2021
892021
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes
JK Goodrich, M Singer-Berk, R Son, A Sveden, J Wood, E England, ...
Nature communications 12 (1), 3505, 2021
732021
A missense mutation in damage‐specific DNA binding protein 2 is a genetic risk factor for limbal squamous cell carcinoma in horses
RR Bellone, J Liu, JL Petersen, M Mack, M Singer‐Berk, C Drögemüller, ...
International journal of cancer 141 (2), 342-353, 2017
642017
Centers for Mendelian Genomics: A decade of facilitating gene discovery
SM Baxter, JE Posey, NJ Lake, N Sobreira, JX Chong, S Buyske, EE Blue, ...
Genetics in Medicine 24 (4), 784-797, 2022
602022
Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans (Nature,(2020), 581, 7809,(434-443), 10.1038/s41586-020-2308-7)
KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alföldi, Q Wang, ...
Nature 581, 7809, 2021
502021
Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans
S Gudmundsson, KJ Karczewski, LC Francioli, G Tiao, BB Cummings, ...
Nature 597 (7874), E3-E4, 2021
452021
Genome sequencing for diagnosing rare diseases
MH Wojcik, G Lemire, E Berger, MS Zaki, M Wissmann, W Win, SM White, ...
New England Journal of Medicine 390 (21), 1985-1997, 2024
342024
Natural history of TANGO2 deficiency disorder: baseline assessment of 73 patients
CY Miyake, EJ Lay, C Soler-Alfonso, KE Glinton, KM Houck, M Tosur, ...
Genetics in Medicine 25 (4), 100352, 2023
322023
Genome Aggregation Database, C.(2020)
KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alföldi, Q Wang, ...
The mutational constraint spectrum quantified from variation in 141, 434-443, 0
32
Genetic risk for squamous cell carcinoma of the nictitating membrane parallels that of the limbus in Haflinger horses
M Singer‐Berk, KE Knickelbein, S Vig, J Liu, E Bentley, C Nunnery, ...
Animal genetics 49 (5), 457-460, 2018
262018
A missense mutation in damage‐specific DNA binding protein 2 is a genetic risk factor for ocular squamous cell carcinoma in Belgian horses
KE Knickelbein, ME Lassaline, M Singer‐Berk, CM Reilly, AB Clode, ...
Equine veterinary journal 52 (1), 34-40, 2020
202020
Inferring compound heterozygosity from large-scale exome sequencing data
MH Guo, LC Francioli, SL Stenton, JK Goodrich, NA Watts, M Singer-Berk, ...
Nature genetics 56 (1), 152-161, 2024
162024
Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data
M Singer-Berk, S Gudmundsson, S Baxter, EG Seaby, E England, ...
The American Journal of Human Genetics 110 (9), 1496-1508, 2023
162023
Additional Evidence for DDB2 T338M as a Genetic Risk Factor for Ocular Squamous Cell Carcinoma in Horses
MH Singer-Berk, KE Knickelbein, ZT Lounsberry, M Crausaz, S Vig, ...
International journal of genomics 2019 (1), 3610965, 2019
162019
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