Francesca Mattioli

Publication Activity (10 Years)

Years Active: 2021-2023
Publications (10 Years): 5

Top Topics

Autism Spectrum Disorder

Photodynamic Therapy

Ejection Fraction

Intellectual Disability

Top Venues

NPJ genomic medicine

American journal of medical genetics. Part A

This page only lists publications with an associated author ORCID identifier.

Publications

Nazia Ibrahim, Shagufta Naz, Francesca Mattioli, Nicolas Guex, Saima Sharif, Afia Iqbal, Muhammad Ansar, Alexandre Reymond
A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy. Genes 14 (3) (2023)
Nazia Ibrahim, Shagufta Naz, Francesca Mattioli, Nicolas Guex, Saima Sharif, Afia Iqbal, Muhammad Ansar, Alexandre Reymond
A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy. Genes 14 (3) (2023)
Nazia Ibrahim, Shagufta Naz, Francesca Mattioli, Nicolas Guex, Saima Sharif, Afia Iqbal, Muhammad Ansar, Alexandre Reymond
A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy. Genes 14 (3) (2023)
Francesca Mattioli, Hossein Darvish, Sohail Aziz Paracha, Abbas Tafakhori, Saghar Ghasemi Firouzabadi, Marjan Chapi, Hafiz Muhammad Azhar Baig, Alexandre Reymond, Stylianos E Antonarakis, Muhammad Ansar
Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder. NPJ genomic medicine 6 (1) (2021)
Francesca Mattioli, Norine Voisin, Eglė Preikšaitienė, Irina Kozlovskaja, Vaidutis Kučinskas, Alexandre Reymond
Ophthalmic phenotypes associated with biallelic loss-of-function PCDH12 variants. American journal of medical genetics. Part A 185 (4) (2021)