Alba Sanchis-Juan

发表

GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data

Ryan L. Collins, Jack M. Fu, David I. Benjamin, 2023, Nature Genetics.

GATK-gCNV: A Rare Copy Number Variant Discovery Algorithm and Its Application to Exome Sequencing in the UK Biobank

Ryan L. Collins, Jack M. Fu, David I. Benjamin, 2022, bioRxiv.

Beyond the exome: what’s next in diagnostic testing for Mendelian conditions

M. Wheeler, S. Montgomery, M. Bamshad, 2023, American journal of human genetics.

Beyond the exome: what’s next in diagnostic testing for Mendelian conditions

M. Wheeler, S. Montgomery, M. Bamshad, 2023, ArXiv.

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.

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

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

Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial clefting

T. Beaty, D. Cutler, Xuefang Zhao, 2022, medRxiv.

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 .

Mapping the Constrained Coding Regions in the Human Genome to Their Corresponding Proteins

C. Orengo, J. Thornton, R. Laskowski, 2022, bioRxiv.

Rare germline structural variants increase risk for pediatric solid tumors

Ryan L. Collins, E. V. Van Allen, B. Crompton, 2024, bioRxiv.

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.