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Fingerprint Fingerprint is based on mining the text of the experts' scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

  • 2 Similar Profiles
Neuronal Ceroid-Lipofuscinoses Medicine & Life Sciences
Mutation Medicine & Life Sciences
Genes Medicine & Life Sciences
Alleles Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
X Chromosome Medicine & Life Sciences
Fragile X Syndrome Medicine & Life Sciences
Missense Mutation Medicine & Life Sciences

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Research Output 1991 2018

  • 1184 Citations
  • 18 h-Index
  • 50 Article
  • 3 Letter
  • 1 Chapter

Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN

Burnside, R. D., Molinari, S., Botti, C., Brooks, S., Chung, W. K., Mehta, L., Schwartz, S. & Papenhausen, P., Sep 1 2018, In : American Journal of Medical Genetics, Part A. 176, 9, p. 1956-1963 8 p.

Rutgers, The State University

Research output: Contribution to journalArticle

Microcephaly
Chromosomes, Human, Pair 2
Germ-Line Mutation
Sequence Deletion
Hearing Loss
2 Citations (Scopus)

Further Delineation of Ribose-5-phosphate Isomerase Deficiency: Report of a Third Case

Brooks, S., Anderson, S., Bhise, V. & Botti, C., Oct 1 2018, In : Journal of Child Neurology. 33, 12, p. 784-787 4 p.

Rutgers, The State University

Research output: Contribution to journalArticle

Leukoencephalopathies
Urine
Exome
Pentose Phosphate Pathway
Molecular Pathology
1 Citation (Scopus)

A new finding of a tethered cord in a patient with Okamoto syndrome

Conteh, F. S., Tyagi, R. & Brooks, S., Jan 1 2017, In : Clinical Dysmorphology. 26, 2, p. 110-113 4 p.

Rutgers, The State University

Research output: Contribution to journalArticle

1 Citation (Scopus)

Congenital Glucose–Galactose Malabsorption: A Case Report

Anderson, S., Koniaris, S., Xin, B. & Brooks, S., Jul 1 2017, In : Journal of Pediatric Health Care. 31, 4, p. 506-510 5 p.

Rutgers, The State University

Research output: Contribution to journalArticle

Dehydration
Diarrhea
Infantile Diarrhea
Differential Diagnosis
Genes
1 Citation (Scopus)

An extremely rare disorder of somatic mosaicism: CLOVES syndrome

Anderson, S. & Brooks, S., Jan 1 2016, In : Advances in Neonatal Care. 16, 5, p. 347-359 13 p.

Rutgers, The State University

Research output: Contribution to journalArticle

Mosaicism
Research
Scoliosis
Disease Management
Consultants