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1

Gene discoveries in autism are biased towards comorbidity with intellectual disability

Jensen, Matthew, Smolen, Corrine, Girirajan, Santhosh

Journal:

Journal of Medical Genetics

Year:

2020

Language:

english

File:

PDF, 1.15 MB

english, 2020

2

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, Evan E. Eichler, Lisa G. Shaffer, Blake C. Ballif

Journal:

Journal of Neurodevelopmental Disorders

Year:

2010

Language:

english

File:

PDF, 460 KB

english, 2010

3

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

O’Roak, Brian J., Vives, Laura, Girirajan, Santhosh, Karakoc, Emre, Krumm, Niklas, Coe, Bradley P., Levy, Roie, Ko, Arthur, Lee, Choli, Smith, Joshua D., Turner, Emily H., Stanaway, Ian B., Vernot, Be

Journal:

Year:

2012

Language:

english

File:

PDF, 458 KB

english, 2012

4

Human Copy Number Variation and Complex Genetic Disease

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

Journal:

Annual Review of Genetics

Year:

2011

Language:

english

File:

PDF, 503 KB

english, 2011

5

Epigenetics of Autism-related Impairment

Mazina, Varvara, Gerdts, Jennifer, Trinh, Sandy, Ankenman, Katy, Ward, Tracey, Dennis, Megan Y., Girirajan, Santhosh, Eichler, Evan E., Bernier, Raphael

Journal:

Journal of Developmental & Behavioral Pediatrics

Year:

2015

Language:

english

File:

PDF, 403 KB

english, 2015

6

Genomic architecture of aggression: Rare copy number variants in intermittent explosive disorder

Tiffany H. Vu, Emil F. Coccaro, Evan E. Eichler, Santhosh Girirajan

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2011

Language:

english

File:

PDF, 324 KB

english, 2011

7

Abnormal maternal behavior, altered sociability, and impaired serotonin metabolism inRai1-transgenic mice

Santhosh Girirajan, Sarah H. Elsea

Journal:

Mammalian Genome

Year:

2009

Language:

english

File:

PDF, 395 KB

english, 2009

8

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

Girirajan, Santhosh, Rosenfeld, Jill A, Cooper, Gregory M, Antonacci, Francesca, Siswara, Priscillia, Itsara, Andy, Vives, Laura, Walsh, Tom, McCarthy, Shane E, Baker, Carl

Journal:

Nature Genetics

Year:

2010

Language:

english

File:

PDF, 772 KB

english, 2010

9

Smith–Magenis syndrome

Elsea, Sarah H, Girirajan, Santhosh

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 246 KB

english, 2008

10

The origins and impact of primate segmental duplications

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

Journal:

Trends in Genetics

Year:

2009

Language:

english

File:

PDF, 1.85 MB

english, 2009

11

A copy number variation morbidity map of developmental delay

Cooper, Gregory M, Coe, Bradley P, Girirajan, Santhosh, Rosenfeld, Jill A, Vu, Tiffany H, Baker, Carl, Williams, Charles, Stalker, Heather, Hamid, Rizwan, Hannig, Vickie, Abdel-Hamid, Hoda, Bader, Pat

Journal:

Nature Genetics

Year:

2011

Language:

english

File:

PDF, 1.12 MB

english, 2011

12

through the superconducting transition

Srinivasan, R., Girirajan, K. S., Ganesan, V., Radhakrishnan, Vijayashree, Subba Rao, G. V.

Journal:

Physical Review B

Year:

1988

Language:

english

File:

PDF, 216 KB

english, 1988

13

Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay

Williams, S. R., Girirajan, S., Tegay, D., Nowak, N., Hatchwell, E., Elsea, S. H.

Journal:

Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 364 KB

english, 2010

14

Missing heritability and where to find it

Santhosh Girirajan

Journal:

Year:

2017

Language:

english

File:

PDF, 254 KB

english, 2017

15

RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith–Magenis syndrome

Weimin Bi, G. Mustafa Saifi, Santhosh Girirajan, Xin Shi, Barbara Szomju, Helen Firth, R. Ellen Magenis, Lorraine Potocki, Sarah H. Elsea, James R. Lupski

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 275 KB

english, 2006

16

Smith–Magenis syndrome and moyamoya disease in a patient with del(17)(p11.2p13.1)

Santhosh Girirajan, Roberto Mendoza-Londono, Christopher N. Vlangos, Lucie Dupuis, Norma J. Nowak, David J. Bunyan, Eli Hatchwell, Sarah H. Elsea

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 283 KB

english, 2007

17

Evidence for involvement of GNB1L in autism

Ying-Zhang Chen, Mark Matsushita, Santhosh Girirajan, Mark Lisowski, Elizabeth Sun, Youngmee Sul, Raphael Bernier, Annette Estes, Geraldine Dawson, Nancy Minshew, Gerard D. Shellenberg, Evan E. Eichle

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2012

Language:

english

File:

PDF, 662 KB

english, 2012

18

Vibrational free energy, entropy, and temperature factors of DNA calculated by a helix lattice approach

K. S. Girirajan, L. Young, E. W. Prohofsky

Journal:

Year:

1989

Language:

english

File:

PDF, 1.09 MB

english, 1989

19

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

Allen N. Lamb, Jill A. Rosenfeld, Nicholas J. Neill, Michael E. Talkowski, Ian Blumenthal, Santhosh Girirajan, Debra Keelean-Fuller, Zheng Fan, Jill Pouncey, Cathy Stevens, Loren Mackay-Loder, Deborah

Journal:

Year:

2012

Language:

english

File:

PDF, 475 KB

english, 2012

20

The second and third order elastic constants of alkali metals

R. Srinivasan, K.S. Girirajan

Journal:

Journal of Physics and Chemistry of Solids

Year:

1973

Language:

english

File:

PDF, 635 KB

english, 1973

21

Brachydactyly A1: New relatives for old families?

Santhosh Girirajan, Sarah H. Elsea

Journal:

Journal of Genetics

Year:

2005

Language:

english

File:

PDF, 128 KB

english, 2005

22

Tom1l2hypomorphic mice exhibit increased incidence of infections and tumors and abnormal immunologic response

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

Journal:

Mammalian Genome

Year:

2008

Language:

english

File:

PDF, 1.64 MB

english, 2008

23

Parental-age effects in Down syndrome

Santhosh Girirajan

Journal:

Journal of Genetics

Year:

2009

Language:

english

File:

PDF, 372 KB

english, 2009

24

Third order elastic constants of gold

R. Srinivasan, K.S. Girirajan

Journal:

Journal of Physics and Chemistry of Solids

Year:

1974

Language:

english

File:

PDF, 46 KB

english, 1974

25

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

EA Edelman, S Girirajan, B Finucane, PI Patel, JR Lupski, ACM Smith, SH Elsea

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 284 KB

english, 2007

26

17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome

S Girirajan, SR Williams, JY Garbern, N Nowak, E Hatchwell, SH Elsea

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 433 KB

english, 2007

27

A functional network module for Smith–Magenis syndrome

S Girirajan, HT Truong, CL Blanchard, SH Elsea

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 443 KB

english, 2009

28

Eyebrow anomalies as a diagnostic sign of genomic disorders

M Silengo, E Belligni, C Molinatto, G Baldassare, E Biamino, N Chiesa, O Zuffardi, S Girirajan, EE Eichler, GB Ferrero

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 624 KB

english, 2010

29

How much is too much? Phenotypic consequences of Rai1 overexpression in mice

Girirajan, Santhosh, Patel, Nisha, Slager, Rebecca E, Tokarz, Mary E, Bucan, Maja, Wiley, Jenny L, Elsea, Sarah H

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 433 KB

english, 2008

30

A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk

Antonacci, Francesca, Kidd, Jeffrey M, Marques-Bonet, Tomas, Teague, Brian, Ventura, Mario, Girirajan, Santhosh, Alkan, Can, Campbell, Catarina D, Vives, Laura, Malig, Maika

Journal:

Nature Genetics

Year:

2010

Language:

english

File:

PDF, 1.05 MB

english, 2010

31

Rare copy number variants in isolated sporadic and syndromic atrioventricular septal defects

James R. Priest, Santhosh Girirajan, Tiffany H. Vu, Aaron Olson, Evan E. Eichler, Michael A. Portman

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 183 KB

english, 2012

32

The genetic variability and commonality of neurodevelopmental disease

Bradley P. Coe, Santhosh Girirajan, Evan E. Eichler

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2012

Language:

english

File:

PDF, 262 KB

english, 2012

33

Temperature variation of the Debye-Waller factors of metal and halide ions in CsCl and CsBr powders by X-ray diffraction. II. Debye-Waller factors of Cs+and Br−ions in CsBr from room temperature to 78.2°K

V Ganesan, K S Girirajan

Journal:

Year:

1988

Language:

english

File:

PDF, 127 KB

english, 1988

34

Temperature variation of the Debye-Waller factors of metal and halide ions in CsCl and CsBr powders by X-ray diffraction. I. Debye-Waller factors of Cs+and Cl−ions in CsCl from room temperature to 90°K

V Ganesan, K S Girirajan

Journal:

Year:

1988

Language:

english

File:

PDF, 269 KB

english, 1988

35

Precise lattice parameter measurements in CsCl-Br solid solutions between room temperature and 90°K by powder x-ray diffraction

V Ganesan, K S Girirajan

Journal:

Year:

1987

Language:

english

File:

PDF, 301 KB

english, 1987

36

Lattice parameter and thermal expansion of CsCl and CsBr by x-ray powder diffraction. I. Thermal expansion of CsCl from room temperature to 90° K

V Ganesan, K S Girirajan

Journal:

Year:

1986

Language:

english

File:

PDF, 244 KB

english, 1986

37

Lattice parameter and thermal expansion of CsCl and CsBr by x-ray powder diffraction. II. Thermal expansion of CsBr from room temperature to 78.2 °K

V Ganesan, K S Girirajan

Journal:

Year:

1986

Language:

english

File:

PDF, 165 KB

english, 1986

38

Temperature variation of the Debye-Waller factors of Ba++and F−ions in BaF2powder by x-ray diffraction

R Srinivasan, K S Girirajan

Journal:

Year:

1982

Language:

english

File:

PDF, 557 KB

english, 1982

39

Temperature variation of the Debye-Waller factors of metal and halide ions in CsCl-Br solid solutions between room temperature and 90°K by powder X-ray diffraction

V Ganesan, K S Girirajan

Journal:

Year:

1988

Language:

english

File:

PDF, 453 KB

english, 1988

40

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

Andy Itsara, Gregory M. Cooper, Carl Baker, Santhosh Girirajan, Jun Li, Devin Absher, Ronald M. Krauss, Richard M. Myers, Paul M. Ridker, Daniel I. Chasman, Heather Mefford, Phyllis Ying, Deborah A. N

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 993 KB

english, 2009

41

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

Andy Itsara, Gregory M. Cooper, Carl Baker, Santhosh Girirajan, Jun Li, Devin Absher, Ronald M. Krauss, Richard M. Myers, Paul M. Ridker, Daniel I. Chasman, Heather C. Mefford, Phyllis Ying, Deborah A

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 57 KB

english, 2009

42

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, Sulayman D. Dib-Hajj, Stephen G. Waxman, Dinesh Talwar, Santhosh Girirajan, Evan E. Eichler, Linda L. Restifo, Robert P. Eri

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 458 KB

english, 2012

43

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

O'Roak, Brian J, Deriziotis, Pelagia, Lee, Choli, Vives, Laura, Schwartz, Jerrod J, Girirajan, Santhosh, Karakoc, Emre, MacKenzie, Alexandra P, Ng, Sarah B, Baker, Carl

Journal:

Nature Genetics

Year:

2012

Language:

english

File:

PDF, 76 KB

english, 2012

44

Distorted Mendelian transmission as a function of genetic background in Rai1-haploinsufficient mice

Santhosh Girirajan, Sarah H. Elsea

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 183 KB

english, 2009

45

De Novo CNVs in Bipolar Disorder: Recurrent Themes or New Directions?

Santhosh Girirajan, Evan E. Eichler

Journal:

Year:

2011

Language:

english

File:

PDF, 118 KB

english, 2011

46

A genetic model for neurodevelopmental disease

Bradley P Coe, Santhosh Girirajan, Evan E Eichler

Journal:

Current Opinion in Neurobiology

Year:

2012

Language:

english

File:

PDF, 859 KB

english, 2012

47

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

O'Roak, Brian J, Deriziotis, Pelagia, Lee, Choli, Vives, Laura, Schwartz, Jerrod J, Girirajan, Santhosh, Karakoc, Emre, MacKenzie, Alexandra P, Ng, Sarah B, Baker, Carl, Rieder, Mark J, Nickerson, Deb

Journal:

Nature Genetics

Year:

2011

Language:

english

File:

PDF, 596 KB

english, 2011

48

Ultra-High Resolution Imaging by Fluorescence Photoactivation Localization Microscopy

Hess, Samuel T., Girirajan, Thanu P.K., Mason, Michael D.

Journal:

Biophysical Journal

Year:

2006

Language:

english

File:

PDF, 1.15 MB

english, 2006

49

Support for the N -Methyl-D-Aspartate Receptor Hypofunction Hypothesis of Schizophrenia From Exome Sequencing in Multiplex Families

Timms, Andrew E., Dorschner, Michael O., Wechsler, Jeremy, Choi, Kyu Yeong, Kirkwood, Robert, Girirajan, Santhosh, Baker, Carl, Eichler, Evan E., Korvatska, Olena, Roche, Katherine W., Horwitz, Marsha

Journal:

JAMA Psychiatry

Year:

2013

Language:

english

File:

PDF, 413 KB

english, 2013

50

Counting Chromosomes to Exons: Advances in Copy Number Detection

Aradhya, Swaroop, Cherry, Athena M., Girirajan, Santhosh

Journal:

Current Genetic Medicine Reports

Year:

2013

Language:

english

File:

PDF, 222 KB

english, 2013

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