Centre for Addiction and Mental Health

The Hospital for Sick Children

John B Vincent

Berge Minassian

Muhammad Ayub

Stephen Scherer

Christian Windpassinger

Stefan Quasthoff

Stephen W Scherer

Berge A Minassian

Methods of determining the risk of ASD in an individual are provided which comprise identifying the presence of one or more genomic mutations in one or more of the genes, PTCHD1, SHANK3, NFIA, DPP6, DPP10, DYPD, GPR98, PQBP1, ZNF41 and FTSJ1.

Biomarkers for autism spectrum disorders

The invention is a novel MECP2E1 splice variant and its corresponding polypeptide. The invention also includes methods of using these nucleic acid sequences and proteins in medical diagnosis and treatment of neuropsychiatric disorders or development disorders.

MECP2E1 gene

The present invention provides a method of screening a subject for mutations in the CC2D2A gene that are associated with Joubert syndrome, an autosomal recessive form of mental retardation. The present invention also provides proteins that are associated with Joubert syndrome including proteins that includes an amino acid sequence that terminates in DHEGGSGMES (SEQ ID NO: 1). Also provided are nucleotide sequences encoding such proteins and methods of screening subjects to identify nucleotide sequences or proteins associated with Joubert syndrome.

CC2D2A gene mutations associated with Joubert syndrome and diagnostic methods for identifying the same

Four and a Half LIM domains protein 1 (FHL-1) mutations at positions 128 or 224 that are associated with X-linked muscular myopathy, methods of screening subjects to identify those susceptible to muscular myopathy including muscular dystrophy and cardiomyopathy and kits.

Nucleic acids encoding FHL1 mutations associated with novel X-linked muscular myopathies and methods of screening a subject

The present invention provides a method of screening a subject for mutations in the TRAPPC9 gene that are associated with developmental disabilities. The present invention also provides proteins that are associated with developmental disabilities including a truncation of NIBP. Also provided are nucleotide sequences encoding such proteins and methods of screening subjects to identify nucleotide sequences or proteins associated with developmental disabilities.

Method and apparatus for predicting susceptibility to a developmental disorder

CC2D2A gene mutations associated with joubert syndrome and diagnostic methods for identifying the same

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The present invention provides a method of screening a subject for mutations in the CC2D2A gene that are associated with Joubert syndrome, an autosomal recessive form of mental retardation. The present invention also provides proteins that are associated with Joubert syndrome including proteins comprising an amino acid sequence that terminates in DHEGGSGMES (SEQ ID NO: 1). Also provided are nucleotide sequences encoding such proteins and methods of screening subjects to identify nucleotide sequences or proteins associated with Joubert syndrome.

Growing community of inventors

Toronto, Canada

John B Vincent