Stephanie DiTroia - Concepedia

Author

Stephanie DiTroia

Broad Institute ORCID

Also Known As

Haowei Du, Jawid Fatih, Philip M. Boone, S. Parker DiTroia, Stephanie DiTroia, Stephanie P. DiTroia

Publications

977

Citations

H-Index

Concepts

All Affiliations

Broad Institute Harvard University Boston Children's Hospital Massachusetts General Hospital Howard Hughes Medical Institute

About

Stephanie DiTroia is an author at Broad Institute specializing in genetics, medicine, and genetic epidemiology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	6	6	300
2	Public Health	2	2	122
3	Health Sciences	1	1	19
4	Social Sciences	1	1	15
5	Biostatistics	1	1	105

Stephanie DiTroia

Publications

706

Citations

H-Index

Page 1

	Year	Citations
Genome Sequencing for Diagnosing Rare Diseases Monica H. Wojcik, Gabrielle Lemire, Eva Berger, New England Journal of Medicine	2024	144
Maternal vitamin C regulates reprogramming of DNA methylation and germline development Stephanie DiTroia, Michelle Percharde, Marie-Justine Guerquin, Nature Maternal Vitamin CChromatinDevelopmental BiologyGermline DevelopmentEpigenetic Change	2019	114
<i>seqr</i> : A web‐based analysis and collaboration tool for rare disease genomics Lynn Pais, Hana Snow, Ben Weisburd, Human Mutation Causal VariantsWeb‐based AnalysisGeneticsGenetic EpidemiologyGene Discovery	2022	105
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death Alicia B. Byrne, Peer Arts, Thuong Ha, Nature Medicine	2023	54
Familial thrombocytopenia due to a complex structural variant resulting in a <i>WAC-ANKRD26</i> fusion transcript Lara Wahlster, Jeffrey M. Verboon, Leif S. Ludwig, The Journal of Experimental Medicine GeneticsGenetic EpidemiologyPathologyFamilial ThrombocytopeniaComplex Structural Variant	2021	30
Expanding the phenotypic spectrum in RDH12-associated retinal disease Hilary Scott, Emily Place, Kevin Ferenchak, Molecular Case Studies	2020	29
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria Shyam K. Akula, Allen Y. Chen, Jennifer E. Neil, JAMA Neurology	2023	29
Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study Salma Shickh, Mariana Salazar, Kathleen-Rose Zakoor, Journal of Medical Genetics	2020	27
Germline GATA1s-generating mutations predispose to leukemia with acquired trisomy 21 and Down syndrome-like phenotype Henrik Hasle, Ronald M. Kline, Eigil Kjeldsen, Blood	2021	24
<i>KCND2</i> variants associated with global developmental delay differentially impair Kv4.2 channel gating Yongqiang Zhang, Georgios Tachtsidis, Claudia Schob, Human Molecular Genetics	2021	21

Page 1