Sign inJoin waitlistJoin the waitlist

RH

Rachel Hachen

Medical Director, Neurofibromatosis Program · Children's Hospital of Philadelphia

Credentials: · · ·

History

Neurofibromatosis Program · Children's Hospital of Philadelphia
Present

Research

An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1…
The American Journal of Human Genetics · 2007 · 249 citations
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome
JAMA · 2009 · 139 citations
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1
Human Mutation · 2020 · 105 citations

Bruce Korf
3 papers
Elaine Zackai
3 papers
Marie McDonald
3 papers
AH
Alesha Hicks
2 papers
CG
Cristin Griffis
2 papers
Daryl Scott
2 papers
Donald Basel
2 papers
DB
Dusica Babovic-Vuksanovic
2 papers
Michael Wangler
2 papers
NM
Nancy Mendelsohn
2 papers
Nicole Ullrich
2 papers
Pamela Trapane
2 papers