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Moriel Singer-Berk
Moriel Singer-Berk
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Verificeret mail på broadinstitute.org
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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
82632020
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
11832019
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
4002022
Transcript expression-aware annotation improves rare variant interpretation
BB Cummings, KJ Karczewski, JA Kosmicki, EG Seaby, NA Watts, ...
Nature 581 (7809), 452-458, 2020
1932020
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
1422022
Genome Aggregation Database C, Neale BM, Daly MJ, MacArthur DG (2020) The mutational constraint spectrum quantified from variation in 141,456 humans
KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alfoldi, Q Wang, ...
Nature 581 (7809), 434-443, 0
125
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
1002023
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
722021
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
662017
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
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
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
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
332024
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
272018
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
242023
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
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
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
152024
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
152023
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