Ana M Claasen

Affiliations

Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA.
Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA.

Publications (3)

Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD).

Human genetics

Avec: Lorida Llaci , Keri Ramsey , Newell Belnap , Ana M Claasen , Chris D Balak , Szabolcs Szelinger , Wayne M Jepsen , Ashley L Siniard , Ryan Richholt , Tyler Izat , Marcus Naymik , Matt De Both , Ignazio S Piras , David W Craig , Matthew J Huentelman , Vinodh Narayanan , Isabelle Schrauwen , Sampathkumar Rangasamy

Utilizing RNA and outlier analysis to identify an intronic splice-altering variant in AP4S1 in a sibling pair with progressive spastic paraplegia.

Human mutation

Avec: Carmel G McCullough , Szabolcs Szelinger , Newell Belnap , Keri Ramsey , Isabelle Schrauwen , Ana M Claasen , Leah W Burke , Ashley L Siniard , Matthew J Huentelman , Vinodh Narayanan , David W Craig

Congenital myasthenic syndrome caused by a frameshift insertion mutation in

Neurology. Genetics

Avec: Szabolcs Szelinger , Jonida Krate , Keri Ramsey , Samuel P Strom , Perry B Shieh , Hane Lee , Newell Belnap , Chris Balak , Ashley L Siniard , Megan Russell , Ryan Richholt , Matt De Both , Ana M Claasen , Isabelle Schrauwen , Stanley F Nelson , Matthew J Huentelman , David W Craig , Samuel P Yang , Steven A Moore , Kumaraswamy Sivakumar , Vinodh Narayanan , Sampathkumar Rangasamy , Auteur inconnu

Réseau de co-auteurs

Keri Ramsey 3 collaborations

Newell Belnap 3 collaborations

Szabolcs Szelinger 3 collaborations

Ashley L Siniard 3 collaborations

David W Craig 3 collaborations

Matthew J Huentelman 3 collaborations

Vinodh Narayanan 3 collaborations

Isabelle Schrauwen 3 collaborations

Ryan Richholt 2 collaborations

Matt De Both 2 collaborations

Sampathkumar Rangasamy 2 collaborations

Lorida Llaci 1 collaboration

Chris D Balak 1 collaboration

Wayne M Jepsen 1 collaboration

Tyler Izat 1 collaboration

Marcus Naymik 1 collaboration

Ignazio S Piras 1 collaboration

Carmel G McCullough 1 collaboration

Leah W Burke 1 collaboration

Jonida Krate 1 collaboration

Samuel P Strom 1 collaboration

Perry B Shieh 1 collaboration

Hane Lee 1 collaboration

Chris Balak 1 collaboration

Megan Russell 1 collaboration

Stanley F Nelson 1 collaboration

Samuel P Yang 1 collaboration

Steven A Moore 1 collaboration

Kumaraswamy Sivakumar 1 collaboration

None None 1 collaboration