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Works (11)

Considerations for reporting variants in novel candidate genes identified during clinical genomic testing

2024-02-09 | Preprint
DOI: 10.1101/2024.02.05.579012
Contributors: Jessica Xiao-Ling Chong; Seth Berger; Samantha Baxter; Erica Smith; Changrui Xiao; Daniel Calame; Megan Hawley; E. Andres Rivera-Munoz; Stephanie DiTroia; Michael Bamshad et al.
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Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project

2023-08-04 | Preprint
DOI: 10.1101/2023.08.02.23293212
Contributors: Sarah L. Stenton; Melanie O’Leary; Gabrielle Lemire; Grace E. VanNoy; Stephanie DiTroia; Vijay S. Ganesh; Emily Groopman; Emily O’Heir; Brian Mangilog; Ikeoluwa Osei-Owusu et al.
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Crossref

Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability

European Journal of Human Genetics
2021-11 | Journal article
DOI: 10.1038/s41431-021-00943-5
Contributors: Natja Haag; Ene-Choo Tan; Matthias Begemann; Lars Buschmann; Florian Kraft; Petra Holschbach; Angeline H. M. Lai; Maggie Brett; Ganeshwaran H. Mochida; Stephanie DiTroia et al.
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The Importance of Automation in Genetic Diagnosis: Lessons from Analyzing an Inherited Retinal Degeneration Cohort with the Mendelian Analysis Toolkit (MATK)

2021-04-13 | Preprint
DOI: 10.1101/2021.04.09.21255188
Contributors: Erin Zampaglione; Matthew Maher; Emily M. Place; Naomi E. Wagner; Stephanie DiTroia; Katherine R. Chao; Eleina England; Andrew Catomeris; Sherwin Nassiri; Seraphim Himes et al.
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Crossref

Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation

Human Genetics and Genomics Advances
2021-01 | Journal article
DOI: 10.1016/j.xhgg.2020.100014
Part of ISSN: 2666-2477
Contributors: Adam W. Hansen; Payal Arora; Michael M. Khayat; Leah J. Smith; Andrea M. Lewis; Linda Z. Rossetti; Joy Jayaseelan; Ingrid Cristian; Devon Haynes; Stephanie DiTroia et al.
Source: Self-asserted source
Stephanie L Parker; Stephanie P Ditroia via Crossref Metadata Search

CONGENITAL MUSCULAR DYSTROPHIES

Neuromuscular Disorders
2020-10 | Journal article
DOI: 10.1016/j.nmd.2020.08.204
Part of ISSN: 0960-8966
Contributors: D. Natera-de Benito; I. Zaharieva; V. Pini; A. Manzur; P. Munot; S. Parker DiTroia; S. Di Gioia; J. Jurgens; B. Barry; E. England et al.
Source: Self-asserted source
Stephanie L Parker; Stephanie P Ditroia via Crossref Metadata Search

Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study

Journal of Medical Genetics
2020-06 | Journal article
DOI: 10.1136/jmedgenet-2020-106936
Part of ISSN: 0022-2593
Contributors: Salma Shickh; Mariana Gutierrez Salazar; Kathleen-Rose Zakoor; Conxi Lázaro; Jessica Gu; Jamie Goltz; Dakota Kleinman; Abdul Noor; Sam Khalouei; Chloe Mighton et al.
Source: Self-asserted source
Stephanie L Parker; Stephanie P Ditroia via Crossref Metadata Search

Expanding the phenotypic spectrum in RDH12-associated retinal disease

Molecular Case Studies
2020-02-03 | Journal article
DOI: 10.1101/mcs.a004754
Part of ISSN: 2373-2865
Contributors: Hilary A. Scott; Emily M. Place; Kevin Ferenchak; Erin Zampaglione; Naomi E. Wagner; Katherine R. Chao; Stephanie P. DiTroia; Daniel Navarro-Gomez; Shizuo Mukai; Rachel M. Huckfeldt et al.
Source: Self-asserted source
Stephanie L Parker; Stephanie P Ditroia via Crossref Metadata Search

Maternal vitamin C regulates reprogramming of DNA methylation and germline development

Nature
2019-09-04 | Journal article
DOI: 10.1038/s41586-019-1536-1
Part of ISSN: 0028-0836
Contributors: Stephanie P. DiTroia; Michelle Percharde; Marie-Justine Guerquin; Estelle Wall; Evelyne Collignon; Kevin T. Ebata; Kathryn Mesh; Swetha Mahesula; Michalis Agathocleous; Diana J. Laird et al.
Source: Self-asserted source
Stephanie L Parker; Stephanie P Ditroia via Crossref Metadata Search

Dynamic DNA methylation across diverse human cell lines and tissues

Genome Research
2013-01 | Journal article
DOI: 10.1101/gr.147942.112
Part of ISSN: 1088-9051
Contributors: K. E. Varley; J. Gertz; K. M. Bowling; S. L. Parker; T. E. Reddy; F. Pauli-Behn; M. K. Cross; B. A. Williams; J. A. Stamatoyannopoulos; G. E. Crawford et al.
Source: Self-asserted source
Stephanie L Parker; Stephanie P Ditroia via Crossref Metadata Search

Analysis of DNA Methylation in a Three-Generation Family Reveals Widespread Genetic Influence on Epigenetic Regulation

PLoS Genetics
2011-08-11 | Journal article
DOI: 10.1371/journal.pgen.1002228
Part of ISSN: 1553-7404
Contributors: Jason Gertz; Katherine E. Varley; Timothy E. Reddy; Kevin M. Bowling; Florencia Pauli; Stephanie L. Parker; Katerina S. Kucera; Huntington F. Willard; Richard M. Myers; Wendy A. Bickmore
Source: Self-asserted source
Stephanie L Parker; Stephanie P Ditroia via Crossref Metadata Search
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