Deborah L. Stabley - Concepedia

Author

Deborah L. Stabley

Community Health Systems - Dupont Hospital ORCID

Also Known As

Amy Shikany, D. L. Stabley, D. Stabley, D.L. Stabley, Deborah L Stabley, Deborah L. Stabley, Deborah Stabley, Eleftheria Papadopoulou, Norma Leonard, Stabley, Deborah

Publications

2.3K

Citations

H-Index

Concepts

All Affiliations

Community Health Systems - Dupont Hospital Alfred I. duPont Hospital for Children Nemours Children’s Clinic Nemours Children's Clinic Baylor College of Medicine

About

Deborah L. Stabley is an author at Community Health Systems - Dupont Hospital specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	14	14	626
2	Public Health	4	4	170
3	Biostatistics	4	4	164
4	Natural Sciences	2	2	85
5	Engineering	1	1	16

Deborah L. Stabley

Publications

2.2K

Citations

H-Index

Page 1

	Year	Citations
<i>HRAS</i> mutation analysis in Costello syndrome: Genotype and phenotype correlation Karen W. Gripp, Angela E. Lin, Deborah L. Stabley, American Journal of Medical Genetics Part A	2005	187
A novel rasopathy caused by recurrent de novo missense mutations in <i>PPP1CB</i> closely resembles Noonan syndrome with loose anagen hair Karen W. Gripp, Kimberly A. Aldinger, James T. Bennett, American Journal of Medical Genetics Part A	2016	147
Diamond–Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes <i>TSR2</i> and <i>RPS28</i> Karen W. Gripp, Cynthia J. Curry, Ann Haskins Olney, American Journal of Medical Genetics Part A	2014	144
Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies Marcello Niceta, Emilia Stellacci, Karen W. Gripp, The American Journal of Human Genetics	2015	113
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome Amy Lacroix, Deborah L. Stabley, Rebecca Sahraoui, The American Journal of Human Genetics Baratela-scott SyndromeGgc Repeat ExpansionExon 1Genetic DisorderGenetics	2018	110
Further delineation of the phenotype resulting from <i>BRAF</i> or <i>MEK1</i> germline mutations helps differentiate cardio‐facio‐cutaneous syndrome from Costello syndrome Karen W. Gripp, Angela E. Lin, Linda K. Nicholson, American Journal of Medical Genetics Part A	2007	94
Somatic mosaicism for an <i>HRAS</i> mutation causes Costello syndrome Karen W. Gripp, Deborah L. Stabley, Linda K. Nicholson, American Journal of Medical Genetics Part A	2006	92
Truncating mutations in the last exon of <i>NOTCH3</i> cause lateral meningocele syndrome Karen W. Gripp, Katherine Robbins, Nara Sobreira, American Journal of Medical Genetics Part A	2014	74
Male‐to‐male transmission of Costello syndrome: G12S <i>HRAS</i> germline mutation inherited from a father with somatic mosaicism Katia Sol‐Church, Deborah L. Stabley, Laurie Demmer, American Journal of Medical Genetics Part A Down SyndromeMale‐to‐male TransmissionDevelopmental AnomalySomatic VariantMendelian Disorder	2009	69
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C Karen W. Gripp, Elizabeth Hopkins, Katia Sol‐Church, American Journal of Medical Genetics Part A	2011	68

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