M. Singer-Berk

发表

Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes

Ryan L. Collins, Beryl B. Cummings, Kristen M. Laricchia, 2019, bioRxiv.

The mutational constraint spectrum quantified from variation in 141,456 humans

Irina M. Armean, Judy H. Cho, Y. J. Kim, 2019, Nature.

The mutational constraint spectrum quantified from variation in 141,456 humans

Ryan L. Collins, Beryl B. Cummings, Kristen M. Laricchia, 2020, Nature.

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

Y. J. Kim, Kristin A. Maloney, C. Gieger, 2020, Nature Communications.

A missense mutation in damage-specific DNA binding protein 2 is a genetic risk factor for ocular squamous cell carcinoma in Belgian horses.

M. Singer-Berk, C. Reilly, T. Famula, 2019, Equine veterinary journal.

Transcript expression-aware annotation improves rare variant discovery and interpretation

Jonathan M. Mudge, Beryl B. Cummings, M. Daly, 2019, bioRxiv.

Phenotype and genetic analysis of data collected within the first year of NeuroDev: A Pilot Study

Alicia R. Martin, Lethukuthula L Nkambule, D. MacArthur, 2022, medRxiv.

Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans

Ryan L. Collins, Beryl B. Cummings, Kristen M. Laricchia, 2021, Nature.

A missense mutation in damage‐specific DNA binding protein 2 is a genetic risk factor for limbal squamous cell carcinoma in horses

J. Petersen, G. Brem, M. Singer-Berk, 2017, International journal of cancer.

Additional Evidence for DDB2 T338M as a Genetic Risk Factor for Ocular Squamous Cell Carcinoma in Horses

Nikhil A. Joshi, M. Singer-Berk, M. Settles, 2019, International journal of genomics.

A novel DDB2 mutation causes defective recognition of UV-induced DNA damages and prevalent equine squamous cell carcinoma.

S. Artandi, M. Singer-Berk, K. Sugasawa, 2020, DNA repair.

Genetic risk for squamous cell carcinoma of the nictitating membrane parallels that of the limbus in Haflinger horses.

M. Singer-Berk, C. Drögemüller, C. Reilly, 2018, Animal genetics.

Transcript expression-aware annotation improves rare variant interpretation

Jonathan M. Mudge, Ryan L. Collins, Beryl B. Cummings, 2020, Nature.

Centers for Mendelian Genomics: A decade of facilitating gene discovery

Jeffrey M. Weiss, Ryan L. Collins, Jack M. Fu, 2021, medRxiv.

Variant interpretation using population databases: Lessons from gnomAD

D. MacArthur, H. Rehm, A. O’Donnell-Luria, 2021, Human mutation.

Recommendations for clinical interpretation of variants found in non-coding regions of the genome

K. Downes, H. Rehm, D. Baralle, 2021, Genome Medicine.

Transcript expression-aware annotation improves rare variant interpretation

Jonathan M. Mudge, Ryan L. Collins, Beryl B. Cummings, 2020, Nature.

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Ryan L. Collins, Jack M. Fu, Beryl B. Cummings, 2023, Nature Medicine.

Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans

Ryan L. Collins, Beryl B. Cummings, Kristen M. Laricchia, 2021, Nature.

The landscape of tolerated genetic variation in humans and primates

Aashish N. Adhikari, S. Batzoglou, Martin Kuhlwilm, 2023, bioRxiv.

Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data

D. MacArthur, K. Karczewski, H. Rehm, 2023, medRxiv.

Inferring compound heterozygosity from large-scale exome sequencing data.

Michael H. Guo, D. MacArthur, J. Hirschhorn, 2023, Nature genetics.

Natural History of TANGO2 Deficiency Disorder: Baseline Assessment of 73 Patients.

Mahshid S. Azamian, S. Lalani, S. Morris, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

The landscape of tolerated genetic variation in humans and primates.

Aashish N. Adhikari, S. Batzoglou, Martin Kuhlwilm, 2023, Science.

Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project

Julius O. B. Jacobsen, Fullerton, Azza, 2023, medRxiv.

Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data.

D. MacArthur, K. Karczewski, H. Rehm, 2023, American journal of human genetics.

Phenotype and genetic analysis of data collected within the first year of NeuroDev

Lethukuthula L Nkambule, A. O’Donnell-Luria, H. Brand, 2023, Neuron.

Phenotype and genetic analysis of data collected within the first year of NeuroDev: A Pilot Study

A. O’Donnell-Luria, H. Brand, M. Talkowski, 2022 .

Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans

Ryan L. Collins, Beryl B. Cummings, Kristen M. Laricchia, 2021, Nature.

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

Jack M. Fu, K. Garimella, A. O’Donnell-Luria, 2023, medRxiv.

Genome Sequencing for Diagnosing Rare Diseases.

A. O’Donnell-Luria, B. Weisburd, M. Singer-Berk, 2024, The New England journal of medicine.

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

Tiong, Kinga, A. O’Donnell-Luria, 2023, medRxiv.