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Publications by Ryan Kirschner

Classical and Neonatal Marfan Syndrome Mutations in Fibrillin-1 Cause Differential Protease Susceptibilities and Protein Function

Journal of Biological Chemistry

Molecular Biology

English

Related publications

Double Mutant Fibrillin-1 (FBN1) Allele in a Patient With Neonatal Marfan Syndrome.

Journal of Medical Genetics

English

Marfan Syndrome: Fibrillin Expression and Microfibrillar Abnormalities in a Family With Predominant Ocular Defects.

Journal of Medical Genetics

English

Microcornea and Subluxated Lenses Due to a Splicing Error in the Fibrillin-1 Gene in a Patient With Marfan Syndrome

Archives of Ophthalmology

English

Fibrillin-1 Mutations Causing Weill-Marchesani Syndrome and Acromicric and Geleophysic Dysplasias Disrupt Heparan Sulfate Interactions

Multidisciplinary

English

A Nonsense Mutation in the Fibrillin-1 Gene of a Marfan Syndrome Patient Induces NMD and Disrupts an Exonic Splicing Enhancer

Genes and Development

Developmental Biology

English

A Recurring FBN1 Gene Mutation in Neonatal Marfan Syndrome

Archives of Pediatrics & Adolescent Medicine

English

Loss-Of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome

American Journal of Human Genetics

English

Exome Sequencing Identified New Mutations in a Marfan Syndrome Family

Diagnostic Pathology

Forensic Medicine

English

LRIG2 Mutations Cause Urofacial Syndrome

American Journal of Human Genetics

English