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CA

Christelle Moufawad El Achkar

Physician · Boston Children's Hospital

Credentials: · · ·

History

Boston Children's Hospital
Present

Epilepsy
2014–2015
Child Neurology
Case Western Reserve University/University Hospitals Cleveland Medical Center
2008–2013
Medical School
2004–2008

Research

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease
Case report · New England Journal of Medicine · 2019 · 642 citations
Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy
Case report · Brain · 2019 · 62 citations
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
The American Journal of Human Genetics · 2018 · 58 citations

Annapurna Poduri
4 papers
HO
Heather Olson
2 papers
Ali Gharavi
1 paper
AD
Alissa D'Gama
1 paper
Alyssa Rosen
1 paper
AM
Amar Majmundar
1 paper
AP
Amy Pasternak
1 paper
AO
Ana Onuchic-Whitford
1 paper · 1 as a fellow
Anne O’Donnell
1 paper
Anthony Schulien
1 paper
Archana Podury
1 paper · 1 as a resident
Asmaa AbuMaziad
1 paper