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Isabella Herman

9PUBLICATIONS
34CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseasesMedical molecular engineering of nucleic acids and proteinsGenome structure and regulationNeurogenetics
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Journal

Publications (9)

Sort by Publication Date:
|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 <i>TNNT3</i> 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

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

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