• 6617 Citations
  • 32 h-Index
20032022
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Fingerprint Dive into the research topics where Santhosh Girirajan is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 4 Similar Profiles
Smith-Magenis Syndrome Medicine & Life Sciences
Autistic Disorder Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Genes Medicine & Life Sciences
Exome Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Mutation Medicine & Life Sciences
Tretinoin Medicine & Life Sciences

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Projects 2017 2022

Modifier Genes
Inborn Genetic Diseases
Autistic Disorder
Xenopus
Drosophila melanogaster

Research Output 2003 2019

1 Citation (Scopus)

A machine-learning approach for accurate detection of copy number variants from exome sequencing

Pounraja, V. K., Jayakar, G., Jensen, M., Kelkar, N. & Girirajan, S., Jan 1 2019, In : Genome research. 29, 7, p. 1134-1143 10 p.

Research output: Contribution to journalArticle

Open Access
Exome
Inborn Genetic Diseases
Base Composition
Machine Learning
1 Citation (Scopus)

An interaction-based model for neuropsychiatric features of copy-number variants

Jensen, M. & Girirajan, S., Jan 1 2019, In : PLoS genetics. 15, 1, e1007879.

Research output: Contribution to journalArticle

phenotype
Phenotype
gene
Genes
genes

Molecular basis for phenotypic similarity of genetic disorders

Pounraja, V. K. & Girirajan, S., Apr 23 2019, In : Genome Medicine. 11, 1, 24.

Research output: Contribution to journalArticle

Open Access
Inborn Genetic Diseases
Phenotype
Smith-Magenis Syndrome
Overlapping Genes
Genes
13 Citations (Scopus)

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

Pizzo, L., Jensen, M., Polyak, A., Rosenfeld, J. A., Mannik, K., Krishnan, A., McCready, E., Pichon, O., Le Caignec, C., Van Dijck, A., Pope, K., Voorhoeve, E., Yoon, J., Stankiewicz, P., Cheung, S. W., Pazuchanics, D., Huber, E., Kumar, V., Kember, R. L., Mari, F. & 36 others, Curró, A., Castiglia, L., Galesi, O., Avola, E., Mattina, T., Fichera, M., Mandarà, L., Vincent, M., Nizon, M., Mercier, S., Bénéteau, C., Blesson, S., Martin-Coignard, D., Mosca-Boidron, A. L., Caberg, J. H., Bucan, M., Zeesman, S., Nowaczyk, M. J. M., Lefebvre, M., Faivre, L., Callier, P., Skinner, C., Keren, B., Perrine, C., Prontera, P., Marle, N., Renieri, A., Reymond, A., Kooy, R. F., Isidor, B., Schwartz, C., Romano, C., Sistermans, E., Amor, D. J., Andrieux, J. & Girirajan, S., Apr 1 2019, In : Genetics in Medicine. 21, 4, p. 816-825 10 p.

Research output: Contribution to journalArticle

Phenotype
Genes
Exome
Gene Dosage
Autistic Disorder
3 Citations (Scopus)

A higher rare CNV burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndrome

Jensen, M., Kooy, R. F., Simon, T. J., Reyniers, E., Girirajan, S. & Tassone, F., Apr 1 2018, In : European Journal of Medical Genetics. 61, 4, p. 209-212 4 p.

Research output: Contribution to journalArticle

DiGeorge Syndrome
Intellectual Disability
Phenotype
Genome
Chromosomes, Human, Pair 22