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Santhosh Girirajan

Research Profile

Physiology

Disorders

Anatomy

Chromosomes, Human, Pair 17

Chemicals & Drugs

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Genes & Molecular Sequences

Genome, Human

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Publications

TOP 3
Santhosh Girirajan; Maika Malig; Kenneth Mark; Tiffany H Vu; Can Alkan; Carl Baker; Raphael Bernier; Leslie G Biesecker; Catarina D Campbell; Ze Cheng; Bradley P Coe; Megan Y Dennis; Evan E Eichler
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Bradley P Coe; Santhosh Girirajan; Evan E Eichler
A genetic model for neurodevelopmental disease.
James R Priest; Tiffany H Vu; Evan E Eichler; Santhosh Girirajan; Aaron Olson; Michael A Portman
Rare copy number variants in isolated sporadic and syndromic atrioventricular septal defects.

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All Publications

2013: Santhosh Girirajan; Maika Malig; Kenneth Mark; Tiffany H Vu; Can Alkan; Carl Baker; Raphael Bernier; Leslie G Biesecker; Catarina D Campbell; Ze Cheng; Bradley P Coe; Megan Y Dennis; Evan E Eichler
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
American journal of human genetics 2013;92(2):221-37.
2012: Bradley P Coe; Santhosh Girirajan; Evan E Eichler
A genetic model for neurodevelopmental disease.
Current opinion in neurobiology 2012;22(5):829-36.
2012: James R Priest; Tiffany H Vu; Evan E Eichler; Santhosh Girirajan; Aaron Olson; Michael A Portman
Rare copy number variants in isolated sporadic and syndromic atrioventricular septal defects.
American journal of medical genetics. Part A 2012;158A(6):1279-84.
2012: Bradley P Coe; Santhosh Girirajan; Evan E Eichler
The genetic variability and commonality of neurodevelopmental disease.
American journal of medical genetics. Part C, Seminars in medical genetics 2012;160C(2):118-29.
2012: Brian J O'Roak; Beau Reilly; Mark J Rieder; Jay Shendure; Joshua D Smith; Ian B Stanaway; Emily H Turner; Benjamin Vernot; Laura Vives; Santhosh Girirajan; Emre Karakoc; Arthur Ko; Niklas Krumm; Choli Lee; Roie Levy; Maika Malig; Deborah A Nickerson; Joshua M Akey; Carl Baker; Raphael Bernier; Elhanan Borenstein; Bradley P Coe; Evan E Eichler
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Nature 2012;485(7397):246-50.
2012: Ying-Zhang Chen; Evan E Eichler; Santhosh Girirajan; Hillary Lipe; Mark M Matsushita; Deborah A Nickerson; Francesca Antonacci; Thomas D Bird; Mark Rieder; Peggy Robertson; Wendy H Raskind
Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.
Archives of neurology 2012;69(5):630-5.
2012: Krishna R Veeramah; Stephen G Waxman; Xiaoyang Cheng; Sulayman D Dib-Hajj; Evan E Eichler; Robert P Erickson; Santhosh Girirajan; Miriam H Meisler; Janelle E O'Brien; Linda L Restifo; Dinesh Talwar; Michael F Hammer
De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.
American journal of human genetics 2012;90(3):502-10.
2012: Christine Queitsch; Keisha D Carlson; Santhosh Girirajan
Lessons from model organisms: phenotypic robustness and missing heritability in complex disease.
PLoS genetics 2012;8(11):e1003041.
2012: Melanie Lacaria; James R Lupski; Lorraine Potocki; Pradip Saha; Katherina Walz; Jiong Yan; Weimin Bi; Brooke Burns; Lawrence Chan; Sarah H Elsea; Santhosh Girirajan; Wenli Gu
A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men.
PLoS genetics 2012;8(5):e1002713.
2011: Tiffany H Vu; Emil F Coccaro; Evan E Eichler; Santhosh Girirajan
Genomic architecture of aggression: rare copy number variants in intermittent explosive disorder.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2011;156B(7):808-16.
2011: Santhosh Girirajan; Carlos S Moreno; Wendy H Raskind; Corrado Romano; Neil Shafer; Margherita Silengo; Laura Vives; Tiffany H Vu; Stephen Warren; Carl Baker; Raphael Bernier; Zoran Brkanac; Bradley P Coe; Giovanni B Ferrero; Marco Fichera; Evan E Eichler
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
PLoS genetics 2011;7(11):e1002334.
2011: Gregory M Cooper; Hoda Abdel-Hamid; Nora Alexander; Patricia Bader; Carl Baker; Blake C Ballif; Bradley P Coe; Santhosh Girirajan; Jerome Gorski; Rizwan Hamid; Vickie Hannig; Marybeth Hummel; Krys Johnson; Jennifer Kussmann; Kathleen Leppig; Elizabeth McCracken; Dmitriy Niyazov; Catherine Rehder; Jill A Rosenfeld; Lisa G Shaffer; Vandana Shashi; Heather Stalker; Heidi Thiese; Tiffany H Vu; Charles Williams; Evan E Eichler
A copy number variation morbidity map of developmental delay.
Nature genetics 2011;43(9):838-46.
2011: Brian J O'Roak; Pelagia Deriziotis; Choli Lee; Laura Vives; Jerrod J Schwartz; Santhosh Girirajan; Emre Karakoc; Alexandra P Mackenzie; Sarah B Ng; Carl Baker; Mark J Rieder; Deborah A Nickerson; Raphael Bernier; Simon E Fisher; Jay Shendure; Evan E Eichler
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
Nature genetics 2011;43(6):585-9.
2011: Santhosh Girirajan; Catarina D Campbell; Evan E Eichler
Human copy number variation and complex genetic disease.
Annual review of genetics 2011;45():203-26.
2010: Santhosh Girirajan; Evan E Eichler
Phenotypic variability and genetic susceptibility to genomic disorders.
Human molecular genetics 2010;19(R2):R176-87.
2010: Brooke Burns; Kristie Schmidt; Stephen R Williams; Sun Kim; Santhosh Girirajan; Sarah H Elsea
Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome.
Human molecular genetics 2010;19(20):4026-42.
2010: Francesca Antonacci; Jeffrey M Kidd; Tomas Marques-Bonet; Brian Teague; Mario Ventura; Santhosh Girirajan; Can Alkan; Catarina D Campbell; Laura Vives; Maika Malig; Jill A Rosenfeld; Blake C Ballif; Lisa Shaffer; Tina A Graves; Richard K Wilson; David C Schwartz; Evan E Eichler
A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk.
Nature genetics 2010;42(9):745-50.
2009: Tomas Marques-Bonet; Santhosh Girirajan; Evan E Eichler
The origins and impact of primate segmental duplications.
Trends in genetics : TIG 2009;25(10):443-54.
2009: Santhosh Girirajan; Sarah H Elsea
Distorted Mendelian transmission as a function of genetic background in Rai1-haploinsufficient mice.
European journal of medical genetics 2009;52(4):224-8.
2009: Santhosh Girirajan
Parental-age effects in Down syndrome.
Journal of genetics 2009;88(1):1-7.
2009: Santhosh Girirajan; Sarah H Elsea
Abnormal maternal behavior, altered sociability, and impaired serotonin metabolism in Rai1-transgenic mice.
Mammalian genome : official journal of the International Mammalian Genome Society 2009;20(4):247-55.
2009: Santhosh Girirajan; H T Truong; C L Blanchard; Sarah H Elsea
A functional network module for Smith-Magenis syndrome.
Clinical genetics 2009;75(4):364-74.
2009: Tomas Marques-Bonet; Jeffrey M Kidd; ventura Mario; Tina Graves; Ze Cheng; LaDeana W Hillier; Zhaoshi Jiang; Carl Baker; Ray Malfavon-Borja; Lucinda A Fulton; Can Alkan; Gozde Aksay; Santhosh Girirajan; Priscillia Siswara; Lin Chen; Maria Francesca Cardone; Arcadi Navarro; Elaine R Mardis; Richard K Wilson; Evan E Eichler
A burst of segmental duplications in the genome of the African great ape ancestor.
Nature 2009;457(7231):877-81.
2009: Andy Itsara; Gregory Cooper; Carl Baker; Santhosh Girirajan; Jun Li; Devin Absher; Ronald M Krauss; Richard Myers; Paul M Ridker; Daniel I Chasman; Heather C Mefford; Phyllis Ying; Deborah A Nickerson; Evan E Eichler
Population analysis of large copy number variants and hotspots of human genetic disease.
American journal of human genetics 2009;84(2):148-61.
2009: Santhosh Girirajan; Lin Chen; Tina Graves; Tomas Marques-Bonet; ventura Mario; Catrina Fronick; Lucinda Fulton; Mariano Rocchi; Robert S Fulton; Richard K Wilson; Elaine R Mardis; Evan E Eichler
Sequencing human-gibbon breakpoints of synteny reveals mosaic new insertions at rearrangement sites.
Genome research 2009;19(2):178-90.
2008: Santhosh Girirajan; Nisha Patel; Rebecca E Slager; Mary E Tokarz; Maja Bucan; Jenny L Wiley; Sarah H Elsea
How much is too much? Phenotypic consequences of Rai1 overexpression in mice.
European journal of human genetics : EJHG 2008;16(8):941-54.
2008: Santhosh Girirajan; Paula M Hauck; Stephen Williams; Christopher N Vlangos; Barbara B Szomju; Sara Solaymani-Kohal; Philip D Mosier; Kimber L White; Kathleen McCoy; Sarah H Elsea
Tom1l2 hypomorphic mice exhibit increased incidence of infections and tumors and abnormal immunologic response.
Mammalian genome : official journal of the International Mammalian Genome Society 2008;19(4):246-62.
2008: Sarah H Elsea; Santhosh Girirajan
Smith-Magenis syndrome.
European journal of human genetics : EJHG 2008;16(4):412-21.
2008: Hoa T Truong; Sara Solaymani-Kohal; Kevin R Baker; Santhosh Girirajan; Stephen R Williams; Christopher N Vlangos; Ann C M Smith; David J Bunyan; Paul E Roffey; Christopher L Blanchard; Sarah H Elsea
Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCR.
Genetic testing 2008;12(1):67-73.
2007: Santhosh Girirajan; S R Williams; James Y Garbern; N Nowak; Eli Hatchwell; Sarah H Elsea
17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome.
Clinical genetics 2007;72(1):47-58.
2007: E A Edelman; Santhosh Girirajan; Brenda Finucane; Pragna I Patel; James R Lupski; A C M Smith; Sarah H Elsea
Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases.
Clinical genetics 2007;71(6):540-50.
2007: Santhosh Girirajan; Roberto Mendoza-Londono; Christopher N Vlangos; Lucie Dupuis; Norma J Nowak; David J Bunyan; Eli Hatchwell; Sarah H Elsea
Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1).
American journal of medical genetics. Part A 2007;143A(9):999-1008.
2006: Weimin Bi; Gulam Mustafa Saifi; Santhosh Girirajan; Xin Shi; Barbara Szomju; Helen Firth; R Ellen Magenis; Lorraine Potocki; Sarah H Elsea; James R Lupski
RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.
American journal of medical genetics. Part A 2006;140(22):2454-63.
2006: Santhosh Girirajan; Christopher N Vlangos; Barbara B Szomju; Emily Edelman; Christopher D Trevors; Lucie Dupuis; Marjan M Nezarati; David J Bunyan; Sarah H Elsea
Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum.
Genetics in medicine : official journal of the American College of Medical Genetics 2006;8(7):417-27.
2005: Santhosh Girirajan; Louis J Elsas; koenraad devriendt; Sarah H Elsea
RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.
Journal of medical genetics 2005;42(11):820-8.
2005: Santhosh Girirajan; Sarah H Elsea
Brachydactyly A1: new relatives for old families?
Journal of genetics 2005;84(2):95-8.