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)

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|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 <i>TUBA4A</i> 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 <i>JPH1</i> cause congenital myopathy with prominent facial involvement.

Mridul Johari, Ana Topf, Chiara Folland

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Frequent Collaborators

Gianina Ravenscroft

Mridul Johari

Peter B Kang

Ben Weisburd

Marco Tartaglia

Anne O'Donnell-Luria

Erik-Jan Kamsteeg

Alan H Beggs

Francesca Clementina Radio

2 joint publications

Yoshihiko Saito

Frequent Collaborators

Gianina Ravenscroft

Mridul Johari

Peter B Kang

Ben Weisburd