Manjunath Nimmakayalu

Assistant Professor - SHP

  • 1665 Citations
  • 14 h-Index
19932013
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Fingerprint Dive into the research topics where Manjunath Nimmakayalu is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 2 Similar Profiles
Genes Medicine & Life Sciences
Fluorescence In Situ Hybridization Medicine & Life Sciences
Genomic Segmental Duplications Medicine & Life Sciences
Haploinsufficiency Medicine & Life Sciences
Karyotyping Medicine & Life Sciences
Oligonucleotide Array Sequence Analysis Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Retinoblastoma Medicine & Life Sciences

Research Output 1993 2013

  • 1665 Citations
  • 14 h-Index
  • 28 Article
14 Citations (Scopus)

Apparent Germline Mosaicism for a Novel 19p13.13 Deletion Disrupting NFIX and CACNA1A

Nimmakayalu, M., Horton, V. K., Darbro, B., Patil, S. R., Alsayouf, H., Keppler-Noreuil, K. & Shchelochkov, O. A., May 1 2013, In : American Journal of Medical Genetics, Part A. 161, 5, p. 1105-1109 5 p.

Research output: Contribution to journalArticle

Mosaicism
Megalencephaly
Intellectual Disability
Siblings
Comparative Genomic Hybridization
4 Citations (Scopus)

2q24 deletions: Further characterization of clinical findings and their relation to the SCN cluster

Nimmakayalu, M., Noble, N., Horton, V. K., Willing, M., Copeland, S., Sheffield, V., Nagy, P. L., Wassink, T., Patil, S. & Shchelochkov, O. A., Nov 1 2012, In : American Journal of Medical Genetics, Part A. 158 A, 11, p. 2767-2774 8 p.

Research output: Contribution to journalArticle

Sodium Channels
Microcephaly
Seizures
Multigene Family
Haploinsufficiency
11 Citations (Scopus)

A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features

Cyr, A. B., Nimmakayalu, M., Longmuir, S. Q., Patil, S. R., Keppler-Noreuil, K. M. & Shchelochkov, O. A., Sep 1 2011, In : American Journal of Medical Genetics, Part A. 155, 9, p. 2224-2228 5 p.

Research output: Contribution to journalArticle

Wolf-Hirschhorn Syndrome
Oligonucleotide Array Sequence Analysis
Trisomy
Chromosomes
Megalencephaly
22 Citations (Scopus)

Microdeletion of 17q22q23.2 encompassing TBX2 and TBX4 in a patient with congenital microcephaly, thyroid duct cyst, sensorineural hearing loss, and pulmonary hypertension

Nimmakayalu, M., Major, H., Sheffield, V., Solomon, D. H., Smith, R. J., Patil, S. R. & Shchelochkov, O. A., Feb 1 2011, In : American Journal of Medical Genetics, Part A. 155, 2, p. 418-423 6 p.

Research output: Contribution to journalArticle

Microcephaly
Sensorineural Hearing Loss
Thyroglossal Cyst
Pulmonary Hypertension
Cysts
16 Citations (Scopus)

Characterization of a cryptic 3.3 Mb deletion in a patient with a "balanced t(15;22) translocation" using high density oligo array CGH and gene expression arrays

Li, M. M., Nimmakayalu, M., Mercer, D., Andersson, H. C. & Emanuel, B. S., Feb 1 2008, In : American Journal of Medical Genetics, Part A. 146, 3, p. 368-375 8 p.

Research output: Contribution to journalArticle

Gene Expression
Phenotype
Nucleic Acid Databases
Oligonucleotides
Genes