Author

Michael J Bamshad

Seattle Children's Hospital

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

Click to filter author papers

Genetics· 4 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Research Focus:gene regulatory network inference· 4 Organism:human· 4 Assay:whole-exome sequencing· 4 Approach:experimental assay· 2 Approach:statistical model· 2 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1

Frequent Co-Authors

Jessica X. ChongiD· 4 shared Colby T Marvin· 3 shared Deborah A Nickerson· 3 shared Anita E Beck· 2 shared Holly K Tabor· 2 shared Jay Shendure· 2 shared John C Carey· 2 shared Kathryn M Shively· 2 shared

Activity by Year

2015-2024 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

4 shared papersGenetics

Jessica X. ChongORCID

Mutual co-authors in cluster

Author profile →

5 papers

Recent·Most cited

A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery

Daniel Daniš, Michael J Bamshad, Yasemin Bridges, Andrés Caballero-Oteyza, Pilar Cacheiro, Leigh Carmody, Leonardo Chimirri, Jessica X. Chong, Ben D Coleman, Raymond W. M. Dalgleish, Peter Freeman, Adam S L Graefe, Tudor Groza, Peter Hansen, Julius O.B. Jacobsen, , Peter N. Robinson

The paper presents a large-scale corpus of standardized phenopackets for genomic diagnostics and discovery, curated from literature and useful for software testing and genotype-phenotype analysis.

Human Genetics and Genomics Advances · Oct 10, 2024Peer-reviewedGenetic & Genomic Medicine

Recessive inactivating mutations in TBCK, encoding a Rab GTPase-activating protein that modulates mTOR signaling, cause severe infantile syndromic encephalopathy

Jessica X Chong, Viviana Caputo, Ian G Phelps, Lorenzo Stella, Lisa Worgan, Jennifer C Dempsey, Alina Nguyen, Vincenzo Leuzzi, Richard Webster, Antonio Pizzuti, Colby T Marvin, Gisele E Ishak, Simone Ardern-Holmes, Zara Richmond, Univ of Washington Center for Mendelian Genomics, , Dan Doherty

This study identifies biallelic TBCK mutations causing a severe infantile encephalopathy with developmental disability and brain atrophy.

bioRxiv · Jan 6, 2016 · PreprintGenetics

Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features

Jessica Chong, Joon-Ho Yu, Peter Lorentzen, Karen Park, Seema M Jamal, Holly K Tabor, Anita Rauch, Margarita Sifuentes Saenz, Eugen Boltshauser, Karynne E Patterson, Deborah A Nickerson, University of Washington Center for Mendelian Geno, Michael J Bamshad

This paper identifies de novo variants in KDM1A causing a new syndrome with developmental delay and distinctive facial features by leveraging social networking among families and researchers.

bioRxiv · Oct 3, 2015Genetics

Autosomal dominant multiple pterygium syndrome is caused by mutations in MYH3

Jessica X Chong, Lindsay C Burrage, Anita E Beck, Colby T Marvin, Margaret J McMillin, Kathryn M Shively, Kati J Buckingham, Carlos A Bacino, Mahim Jain, Yasemin Alanay, Susan A Berry, John C Carey, Richard A Gibbs, Brendan H Lee, Deborah Krakow, , Michael J Bamshad

This study identifies mutations in MYH3 as the cause of autosomal dominant multiple pterygium syndrome, with mutations in the tail domain of the protein.

The American Journal of Human Genetics · May 1, 2015Peer-reviewedGenetics

De novo Mutations in NALCN Cause a Syndrome of Congenital Contractures of the Limbs and Face with Hypotonia, and Developmental Delay

Jessica X Chong, Margaret J McMillin, Kathryn M Shively, Anita E Beck, Colby T Marvin, Jose R Armenteros, Kati J Buckingham, Naomi T Nkinsi, Evan A Boyle, Margaret N Berry, Maureen Bocian, Nicola Foulds, Maria Luisa Giovannucci Uzielli, Chad Haldeman-Englert, Raoul CM Hennekam, , Michael J Bamshad

This study identifies de novo NALCN mutations causing a new syndrome with congenital contractures, hypotonia, and developmental delay, distinct from known DA2A.

bioRxiv · Jan 11, 2015Genetics