20062020
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Fingerprint The Fingerprint is created by mining the titles and abstracts of the person's research outputs and projects/funding awards to create an index of weighted terms from discipline-specific thesauri.

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Mutation Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Brachydactyly Medicine & Life Sciences
Pharmacogenetics Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Retinitis Pigmentosa Medicine & Life Sciences
Genes Medicine & Life Sciences
Osteochondrodysplasias Medicine & Life Sciences

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Projects 2018 2019

Research Output 2006 2020

Stapes
Diverticulum
Inner Ear
Siblings
Sensorineural Hearing Loss

Delineating the expanding phenotype associated with SCAPER gene mutation

NIHR Bioresource Rare Diseases Consortium, Aug 2019, In : American Journal of Medical Genetics, Part A. 179, 8, p. 1665-1671 7 p.

Research output: Contribution to journalLetter

Open Access
Brachydactyly
Retinitis Pigmentosa
Intellectual Disability
Phenotype
Mutation
1 Citation (Scopus)

Patient Decisions to Receive Secondary Pharmacogenomic Findings and Development of a Multidisciplinary Practice Model to Integrate Results Into Patient Care

Hicks, J. K., Shealy, A., Schreiber, A., Coleridge, M., Noss, R., Natowicz, M., Moran, R., Moss, T., Erwin, A. & Eng, C., Jan 2018, In : Clinical and translational science. 11, 1, p. 71-76 6 p.

Research output: Contribution to journalArticle

Open Access
Pharmacogenetics
Patient Care
Exome
Phenotype
Drug therapy
10 Citations (Scopus)

Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study

Simons Variation in Individuals Project (VIP) Consortium & 16p11.2 European Consortium, Aug 15 2018, In : Biological psychiatry. 84, 4, p. 253-264 12 p.

Research output: Contribution to journalArticle

Brain
Language
Auditory Cortex
Temporal Lobe
Mental Disorders
14 Citations (Scopus)

Developmental trajectories for young children with 16p11.2 copy number variation

Bernier, R., Hudac, C. M., Chen, Q., Zeng, C., Wallace, A. S., Gerdts, J., Earl, R., Peterson, J., Wolken, A., Peters, A., Hanson, E., Goin-Kochel, R. P., Kanne, S., Snyder, L. A. G., Chung, W. K., Alupay, H., Aaronson, B., Ackerman, S., Ankenmann, K., Atwell, C. & 31 others, Aylward, E., Beaudet, A., Benedetti, M., Berman, J., Bernier, R., Bibb, A., Blaskey, L., Brewton, C., Buckner, R., Bukshpun, P., Burko, J., Cerban, B., Chen, Q., Cheong, M., Chu, Z., Chung, W., Dale, C., Dempsey, A., Elgin, J., Olson, J., Evans, Y., Faucett, W. A., Fischbach, G., Garza, S., Gerdts, J., Gobuty, S., Goin-Kochel, R., Grant, P. E., Green Snyder, L., Mukherjee, P. & on behalf of the Simons VIP consortium, Jun 2017, In : American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics. 174, 4, p. 367-380 14 p.

Research output: Contribution to journalArticle

Aptitude
Intellectual Disability
Motor Skills Disorders
Phenotype
Longitudinal Studies