Isabella Herman
9PUBLICATIONS
34CO-AUTHORS
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Publications (9)
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|Apr 26, 2022
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.Daniel G Calame, Isabella Herman, Reza Maroofian
|Mar 25, 2022
Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family.Elifcan Taşdelen, Daniel G Calame, Gulsen Akay
|Nov 24, 2021
Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses.Isabella Herman, Angad Jolly, Haowei Du
|Sep 15, 2021
Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant.Daniel G Calame, Jawid M Fatih, Isabella Herman
|Jun 05, 2021
Risk of sudden cardiac death in EXOSC5-related disease.Daniel G Calame, Isabella Herman, Jawid M Fatih
|May 12, 2021
Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy.Daniel G Calame, Jawid Fatih, Isabella Herman
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Frequent Collaborators
8 joint publications
James R Lupski
7 joint publications
Jennifer E Posey
7 joint publications
Daniel G Calame
5 joint publications
Dana Marafi
4 joint publications
Richard A Gibbs
2 joint publications
Davut Pehlivan
2 joint publications
Stephanie Efthymiou
1 joint publications
Barbara Brechmann
1 joint publications
Sarah H Elsea
1 joint publications
Christian Behrends
