Isabelle Draper

Affiliations

Molecular Cardiology Research Institute, Tufts Medical Center, Boston, Massachusetts.

ORCID: 0000-0002-3888-1670

Publications (2)

Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites.

Molecular genetics & genomic medicine

Avec: Christine C Bruels , Chengcheng Li , Tonatiuh Mendoza , Jamillah Khan , Hemakumar M Reddy , Elicia A Estrella , Partha S Ghosh , Basil T Darras , Hart G W Lidov , Christina A Pacak , Louis M Kunkel , François Modave , Isabelle Draper , Peter B Kang

Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy.

Muscle & nerve

Avec: Johnnie Turner , Christine C Bruels , Audrey L Daugherty , Elicia A Estrella , Seth Stafki , Safoora B Syeda , Hannah R Littel , Lynn Pais , Vijay S Ganesh , Hart G W Lidov , Simon M L Paine , Paul Maddison , Rachel E Harrison , Volker Straub , Partha S Ghosh , Christina A Pacak , Louis M Kunkel , Isabelle Draper , Ana Topf , Peter B Kang

Réseau de co-auteurs

Christine C Bruels 2 collaborations

Elicia A Estrella 2 collaborations

Partha S Ghosh 2 collaborations

Hart G W Lidov 2 collaborations

Christina A Pacak 2 collaborations

Louis M Kunkel 2 collaborations

Peter B Kang 2 collaborations

Chengcheng Li 1 collaboration

Tonatiuh Mendoza 1 collaboration

Jamillah Khan 1 collaboration

Hemakumar M Reddy 1 collaboration

Basil T Darras 1 collaboration

François Modave 1 collaboration

Johnnie Turner 1 collaboration

Audrey L Daugherty 1 collaboration

Seth Stafki 1 collaboration

Safoora B Syeda 1 collaboration

Hannah R Littel 1 collaboration

Lynn Pais 1 collaboration

Vijay S Ganesh 1 collaboration

Simon M L Paine 1 collaboration

Paul Maddison 1 collaboration

Rachel E Harrison 1 collaboration

Volker Straub 1 collaboration

Ana Topf 1 collaboration