Author

Malgorzata JM Nowaczyk

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

Biology Disciplines

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Genetics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Angela E Scheuerle· 1 shared Anita E Beck· 1 shared Antonie D Kline· 1 shared Arnaud MonteiliD· 1 shared Catherine L Mercer· 1 shared Cathy A Stevens· 1 shared Chad Haldeman-Englert· 1 shared Colby T Marvin· 1 shared

Activity by Year

2015-2015 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Angela E Scheuerle

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1 paper

Recent·Most cited

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