Philippe M Campeau

97PUBLICATIONS
192CO-AUTHORS
NeurogeneticsEpigenetics (incl. genome methylation and epigenomics)Gene mappingMicroelectromechanical systems (MEMS)Medical biochemistry - lipids
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Publications (97)

|Aug 12, 2026
BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

|Jun 26, 2026
Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders.

|Apr 17, 2026
Biallelic Splicing Variant c.12479+3A>G in FAT4 Causes Hennekam Lymphangiectasia-Lymphedema Syndrome 2.

|Dec 09, 2025
Impaired SERPINF1 Expression due to c.[-37C>A];[829_831del] Causes Osteogenesis Imperfecta VI.

Vaishnavi Ashok Badiger, Sheela Nampoothiri, Meher Mounika Vangara

|Jul 31, 2025
ARSK-Related Mucopolysaccharidosis Type 10.

Intisar Al Fahdi, Swati Singh, Krishnaveni Yadavalli

|Jul 16, 2025
The c.64 + 2 T > A Founder Variant Hits Home: Report on 14 Patients Expands the Phenotypic Landscape of Inherited ARPC1B Deficiency - a Comparative Analysis.

Dharmagat Bhattarai, Aaqib Zaffar Banday, Pratap Kumar Patra

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Frequent Collaborators

30 joint publications

Anju Shukla

10 joint publications

Sheela Nampoothiri

8 joint publications

Dhanya Lakshmi Narayanan

7 joint publications

Siddaramappa Jagdish Patil