Jennifer Skaug
University of Toronto(CA)Hospital for Sick Children(CA)SickKids Foundation(CA)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Autism Spectrum Disorder Research, Diverse Scientific and Economic Studies, RNA and protein synthesis mechanisms
Most-Cited Works
- → Structural Variation of Chromosomes in Autism Spectrum Disorder(2008)1,832 cited
- → Mapping autism risk loci using genetic linkage and chromosomal rearrangements(2007)1,388 cited
- → Contribution of SHANK3 Mutations to Autism Spectrum Disorder(2007)685 cited
- → A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2(2001)675 cited
- → Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing(2000)415 cited
- → Molecular Basis for Expression of Common and Rare Fragile Sites(2003)233 cited
- → Human Chromosome 7: DNA Sequence and Biology(2003)214 cited
- → Absence of a Paternally Inherited FOXP2 Gene in Developmental Verbal Dyspraxia(2006)185 cited
- → p200 ARF–GEP1: A Golgi-localized guanine nucleotide exchange protein whose Sec7 domain is targeted by the drug brefeldin A(1999)117 cited
- → A third human carnitine/organic cation transporter (OCTN3) as a candidate for the 5q31 Crohn’s disease locus (IBD5)(2003)70 cited