Author

Chad Haldeman-Englert

Cone Health Precision Health;

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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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Assay:clinical cohort / trial· 1 Research Focus:gene regulatory network inference· 1 Research Focus:host-pathogen & immune response· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

A. Micheil Innes· 1 shared Aaina Kochhar· 1 shared Andrea Cortes Fernandez· 1 shared Angela E Scheuerle· 1 shared Anita E Beck· 1 shared Antonie D Kline· 1 shared Arnaud MonteiliD· 1 shared Austin LarsoniD· 1 shared

Activity by Year

2015-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

A. Micheil Innes

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2 papers

Recent·Most cited

A multi-center retrospective chart analysis identifying clinical, biochemical, and radiographic signatures of short-chain enoyl-CoA hydratase (ECHS1) deficiency

Christine Kong, Cesar Alves, George-Friedrich Vogel, Rui Xiao, Irina Anselm, Gerard Berry, Juan Francisco Cabello, Verónica Cornejo, Andrea Cortes Fernandez, Gregory Enns, Michael Gomez, Chad Haldeman-Englert, Suzanne Hollander, A. Micheil Innes, Emma Jannotta, , Rebecca D Ganetzky

This study identifies clinical, biochemical, and radiographic features of ECHS1 deficiency through a multi-center retrospective analysis of 113 patients, highlighting differences in onset and outcomes across age groups.

medRxiv · Nov 5, 2026 · PreprintGenetic & Genomic Medicine

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