Santhosh Girirajan

Overview

Best Publications

• Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

  Brian J. O’Roak;Laura Vives;Santhosh Girirajan;Emre Karakoc

  2488
  Citations

• Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

  Brian J O'Roak;Pelagia Deriziotis;Pelagia Deriziotis;Choli Lee;Laura Vives

  1439
  Citations

• A copy number variation morbidity map of developmental delay

  Gregory M Cooper;Bradley P Coe;Santhosh Girirajan;Jill A Rosenfeld

  1424
  Citations

• Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

  Andy Itsara;Gregory M. Cooper;Carl Baker;Santhosh Girirajan

  708
  Citations

• A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

  Santhosh Girirajan;Jill A. Rosenfeld;Gregory M. Cooper;Francesca Antonacci

  655
  Citations

• Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

  Santhosh Girirajan;Jill A. Rosenfeld;Bradley P. Coe;Sumit Parikh

  624
  Citations

• De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP

  Krishna R. Veeramah;Janelle E. O'Brien;Miriam H. Meisler;Xiaoyang Cheng

  483
  Citations

• Human Copy Number Variation and Complex Genetic Disease

  Santhosh Girirajan;Catarina D. Campbell;Evan E. Eichler

  420
  Citations

• Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes

  Santhosh Girirajan;Zoran Brkanac;Bradley P. Coe;Carl Baker

  369
  Citations

• Refinement and Discovery of New Hotspots of Copy-Number Variation Associated with Autism Spectrum Disorder

  Santhosh Girirajan;Megan Y. Dennis;Carl Baker;Maika Malig

  339
  Citations

• Phenotypic variability and genetic susceptibility to genomic disorders

  Santhosh Girirajan;Evan E. Eichler

  316
  Citations

• A burst of segmental duplications in the genome of the African great ape ancestor

  Tomas Marques-Bonet;Jeffrey M. Kidd;Mario Ventura;Tina A. Graves

  308
  Citations

• Smith–Magenis syndrome

  Sarah H. Elsea;S. Santhosh Girirajan

  282
  Citations

• Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum.

  Santhosh Girirajan;Christopher N. Vlangos;Christopher N. Vlangos;Barbara B. Szomju;Emily Edelman

  195
  Citations

• Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications

  Jill A. Rosenfeld;Justine Coppinger;Bassem A. Bejjani;Santhosh Girirajan

  191
  Citations

• The origins and impact of primate segmental duplications

  Tomas Marques-Bonet;Santhosh Girirajan;Evan E. Eichler;Evan E. Eichler

  188
  Citations

• Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases.

  E. A. Edelman;S. Girirajan;B. Finucane;P. I. Patel

  185
  Citations

• Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

  Gea Beunders;Els Voorhoeve;Christelle Golzio;Luba M. Pardo

  183
  Citations

• Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.

  Lucilla Pizzo;Matthew Jensen;Andrew Polyak;Andrew Polyak;Jill A. Rosenfeld

  162
  Citations

• Corrigendum: A copy number variation morbidity map of developmental delay

  Gregory M Cooper;Bradley P Coe;Santhosh Girirajan;Jill A Rosenfeld

  7
  Citations