1.
Human Copy Number Variation and Complex Genetic Disease
by Girirajan, Santhosh
Annual review of genetics, 2011-12-15, Vol.45 (1), p.203-226

2.
Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease
by Itsara, Andy
American journal of human genetics, 2009-02-13, Vol.84 (2), p.148-161

3.
Refinement and Discovery of New Hotspots of Copy-Number Variation Associated with Autism Spectrum Disorder
by Girirajan, Santhosh
American journal of human genetics, 2013-02-07, Vol.92 (2), p.221-237

4.
De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP
by Veeramah, Krishna R
American journal of human genetics, 2012-03-09, Vol.90 (3), p.502-510

5.
A burst of segmental duplications in the genome of the African great ape ancestor
by Eichler, Evan E
Nature, 2009-02-12, Vol.457 (7231), p.877-881

6.
De Novo CNVs in Bipolar Disorder: Recurrent Themes or New Directions?
by Girirajan, Santhosh
Neuron (Cambridge, Mass.), 2011, Vol.72 (6), p.885-887

7.
Array comparative genomic hybridisation of 52 subjects with a Smith–Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and...
by Williams, Stephen R
Journal of medical genetics, 2010-04, Vol.47 (4), p.223-229

8.
Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease
by Itsara, Andy
American journal of human genetics, 2009, Vol.84 (4), p.550-551

9.
Parental-age effects in Down syndrome
by Girirajan, Santhosh
Journal of genetics, 2009-04, Vol.88 (1), p.1

10.
A Burst of Segmental Duplications in the African Great Ape Ancestor
by Marques-Bonet, Tomas Tomas
Nature (London), 2009-02-12, Vol.457 (7231), p.877-881

11.
Parental-age effects in Down syndrome: Commentary on L. S. Penrose 1933 J. Genet. 27, 219–224; reprinted in this issue as a J. Genet. classic, pages 9–14
by Girirajan, Santhosh
Journal of genetics, 2009-03-30, Vol.88 (1), p.1-7

12.
Brachydactyly A1: new relatives for old families?
by Girirajan, Santhosh
Journal of genetics, 2005-08, Vol.84 (2), p.95-98

13.
Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum
by Girirajan, Santhosh
Genetics in medicine, 2006-07, Vol.8 (7), p.417-427

14.
De Novo Pathogenic SCNBA Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP
by VEERAMAH, Krishna R
American journal of human genetics, 2012, Vol.90 (3), p.502-510

15.
Erratum: A burst of segmental duplications in the genome of the African great ape ancestor
by Marques-Bonet, Tomas
Nature (London), 2009-03, Vol.458 (7235), p.238-238

16.
A burst of segmental duplications in the genome of the African great ape ancestor
by Marques-Bonet, Tomas
Nature (London), 2009-03-12, Vol.458 (7235), p.238-238

17.
Diagnosing Smith-Magenis Syndrome and Duplication 17p11.2 Syndrome by RAI1 Gene Copy Number Variation Using Quantitative Real-Time PCR
by Truong, Hoa T.
Genetic testing, 2008-03-01, Vol.12 (1), p.67-73

18.
Diagnosing Smith–Magenis Syndrome and Duplication 17p11.2 Syndrome byRAI1Gene Copy Number Variation Using Quantitative Real-Time PCR
by Truong, Hoa T.
Genetic testing, 2008-03, Vol.12 (1), p.67-73
