Chiara Folland

7PUBLICATIONS
59CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseasesGene mappingEpigenetics (incl. genome methylation and epigenomics)
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Publications (7)

|May 14, 2026
Rare disease genomics in an era of human pangenomics and telomere-to-telomere genome references.

|Apr 27, 2026
Detection of short tandem repeat expansions on a targeted neurological gene panel using STRipy improves the diagnostic rate for ataxias.

|Feb 12, 2026
Missense variants in TUBA4A cause myo-tubulinopathies.

Mridul Johari, Chiara Folland, Yoshihiko Saito

|Jul 16, 2025
Missense variants in TUBA4A cause myo-tubulinopathies.

Mridul Johari, Chiara Folland, Yoshihiko Saito

|Feb 26, 2024
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets.

Ben Weisburd, Rakshya Sharma, Villem Pata

|Feb 19, 2024
Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial involvement.

Mridul Johari, Ana Topf, Chiara Folland

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Frequent Collaborators

5 joint publications

Gianina Ravenscroft

4 joint publications

Mridul Johari

3 joint publications

Peter B Kang

2 joint publications

Ben Weisburd