Author

Heather Marie McLaughlin

Invitae (United States)ORCID 0000-0002-3020-7964Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

A L RobertsiD· 1 shared Aaron J. GoldenbergiD· 1 shared Ada HamoshiD· 1 shared Adithya V. MadduriiD· 1 shared Adriann Kern· 1 shared Alanna StrongiD· 1 shared Alba Sanchis‐JuaniD· 1 shared Alexander M. HoltziD· 1 shared

Activity by Year

2020-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

A L RobertsORCID

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2 papers

Recent·Most cited

Selection of Genetic Conditions for Multi-State Genomic Newborn Screening in BEACONS-NBS

Nina B. Gold, Britt A. Johnson, Harini Somanchi, Thomas Minten, Stephanie A. Coury, Carrie L. Blout Zawatsky, Amber Hogart Begtrup, Elizabeth Butler, Katherine Langley, Rebekah Zimmerman, Heather Marie McLaughlin, Tessa Ellefson, Adriann Kern, Heidi L. Rehm, David Bick, , Robert C. Green

The paper develops a comprehensive list of genetic conditions for genomic newborn screening, including 777 conditions associated with 743 genes, for implementation across multiple U.S. states and territories.

medRxiv · Mar 25, 2026 · PreprintGenetic & Genomic Medicine

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Chiara Klöckner, Heinrich Sticht, Pia Zacher, Bernt Popp, Holly E. Babcock, Dewi P. Bakker, Katy E Barwick, Michaela Veronika Bonfert, Carsten G. Bönnemann, Eva H. Brilstra, Wendy K. Chung, Angus John Clarke, Patrick Devine, Sandra C. Donkervoort, Jamie L. Fraser, , Konrad Platzer

This study describes 20 individuals with de novo SNAP25 variants, identifying intellectual disability and early-onset epilepsy as core symptoms of SNAP25-DEE, with overlaps with other SNARE complex genes.

Genetics in Medicine · Dec 9, 2020Peer-reviewedGenetic & Genomic Medicine