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Publications by Elicia A. Estrella

Exome Sequencing Identifies a Novel SMCHD1 Mutation in Facioscapulohumeral Muscular Dystrophy 2

Neuromuscular Disorders
Child HealthNeurologyPediatricsPerinatologyGenetics
2013English

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Molecular genetics & genomic medicine
GeneticsMolecular Biology
2019English

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Facioscapulohumeral Muscular Dystrophy

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2013English

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2004English

Exome Sequencing Identifies a Novel MAP3K14 Mutation in Recessive Atypical Combined Immunodeficiency

Frontiers in Immunology
AllergyImmunology
2017English

Whole Exome Sequencing Identifies a Novel Dominant Missense Mutation Underlying Leukonychia in a Pakistani Family

Journal of Human Genetics
Genetics
2018English

Clinical Exome Sequencing Identifies a Novel TUBB4A Mutation in a Child With Static Hypomyelinating Leukodystrophy

Pediatric Neurology
Child HealthDevelopmental NeurosciencePediatricsPerinatologyNeurology
2014English

Electrical Impedance Myography in Facioscapulohumeral Muscular Dystrophy

Muscle and Nerve
Molecular NeuroscienceNeurologyPhysiologyCellular
2016English

Three Novel Serum Biomarkers, miR-1, miR-133a, and miR-206 for Limb-Girdle Muscular Dystrophy, Facioscapulohumeral Muscular Dystrophy, and Becker Muscular Dystrophy

Environmental Health and Preventive Medicine
MedicineEnvironmentalPublic HealthOccupational Health
2014English

Elderly Onset of Weakness in Facioscapulohumeral Muscular Dystrophy

Case Reports in Neurological Medicine
2012English

Targeted Next Generation Sequencing Identifies Two Novel Mutations in SEPN1 in Rigid Spine Muscular Dystrophy 1

Oncotarget
Oncology
2016English

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