Philippe M Campeau

98PUBLICATIONS
194CO-AUTHORS
AutoimmunityNeurogeneticsEpigenetics (incl. genome methylation and epigenomics)Gene mappingMicroelectromechanical systems (MEMS)
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Publications (98)

|Sep 03, 2026
Exome Sequencing Uncovers Phenotypic and Genotypic Heterogeneity in 196 Indian Families Evaluated for Autoinflammatory Disorders.

|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

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Frequent Collaborators

30 joint publications

Anju Shukla

10 joint publications

Sheela Nampoothiri

9 joint publications

Dhanya Lakshmi Narayanan

7 joint publications

Siddaramappa Jagdish Patil