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Heidi I. S. Gildersleeve

Observed names: Gildersleeve, Heidi I.S., Gildersleeve, Heidi IS, H. Gildersleeve, Heidi Gildersleeve, Heidi I Gildersleeve, Heidi I. Gildersleeve, Heidi I.S. Gildersleeve, Heidi I. Gildersleeve, Heidi I.S. Gildersleeve
OpenAlex ID: A5020856442
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
2010 · Sarah B Ng, Abigail W Bigham, et al. · Nature Genetics · 1,347
The Mammalian Spermatogenesis Single-Cell Transcriptome, from Spermatogonial Stem Cells to Spermatids
2018 · Brian P. Hermann, Keren Cheng, et al. · Cell Reports · 595
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Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5
2014 · Margaret J. McMillin, Anita E. Beck, et al. · The American Journal of Human Genetics · 215
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Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome
2011 · Mark C. Hannibal, Kati J. Buckingham, et al. · American Journal of Medical Genetics Part A · 194
Host Genetic Risk Factors for West Nile Virus Infection and Disease Progression
2011 · Abigail W. Bigham, Kati J. Buckingham, et al. · PLoS ONE · 125
Mutations in ECEL1 Cause Distal Arthrogryposis Type 5D
2012 · Margaret J. McMillin, Jennifer E. Below, et al. · The American Journal of Human Genetics · 78
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Spectrum of mutations that cause distal arthrogryposis types 1 and 2B
2013 · Anita E. Beck, Margaret J. McMillin, et al. · American Journal of Medical Genetics Part A · 72
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Genotype‐phenotype relationships in Freeman–Sheldon syndrome
2014 · Anita E. Beck, Margaret J. McMillin, et al. · American Journal of Medical Genetics Part A · 50
TSPAN8 Expression Distinguishes Spermatogonial Stem Cells in the Prepubertal Mouse Testis
2016 · K. Mutoji, A. Singh, et al. · Biology of Reproduction · 42
SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns
2025 · Tara L. Wenger, Abbey Scott, et al. · The American Journal of Human Genetics · 22
HyCCAPP as a tool to characterize promoter DNA-protein interactions in Saccharomyces cerevisiae
2016 · Hector Guillen-Ahlers, Prahlad K. Rao, et al. · Genomics · 15
Genome Sequences of Five Clinical Isolates of Klebsiella pneumoniae
2016 · L. Letti Lopez, Brigida Rusconi, et al. · Genome Announcements · 7
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Expanding implementation of pediatric whole-genome sequencing: Insights from SeqFirst providers to inform equitable access to a precise genetic diagnosis
2025 · Joon-Ho Yu, Katherine E. MacDuffie, et al. · Human Genetics and Genomics Advances · 2
P214: SeqFirst DDi: Early whole genome sequencing improves access to early precise genetic diagnosis for children with developmental differences
2024 · Katrina Dipple, Daniel Doherty, et al. · Genetics in Medicine Open · 1
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P208: SeqFirst: Impact of a precise genetic diagnosis on end-of-life decision making in the NICU*
2023 · Alexandra Keefe, Tara Wenger, et al. · Genetics in Medicine Open · 1
Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5
2014 · McMillin, Margaret J, Beck, Anita E, et al. · Carolina Digital Repository (University of North Carolina at Chapel Hill) · 1
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P261: SeqFirst developmental differences: Early whole genome sequencing offered using broad inclusion criteria improves access to early precise genetic diagnosis
2026 · Katrina Dipple, Dan Doherty, et al. · Genetics in Medicine Open
P194: SeqFirst mitigates race-based disparities in access to a precise genetic diagnosis in hospitalized neonates
2024 · Tara Wenger, Alexandra Keefe, et al. · Genetics in Medicine Open
P414: SeqFirst: Parental perspectives on receiving results from neonatal rapid whole genome sequencing
2023 · Tara Wenger, Alexandra Keefe, et al. · Genetics in Medicine Open
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Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5
2020 · Hurst, Jane A., Fryer, Alan, et al. · UNC Libraries
Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5
2014 · Margaret J. McMillin, Anita E. Beck, et al. · Newcastle University ePrints (Newcastle Univesity)
Works count: 21
Citation count: 2,767
H-index: 11
I10-index: 11
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