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Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
- David T. Miller, M. Adam, D. Ledbetter
- Medicine, BiologyAmerican journal of human genetics
- 14 May 2010
Strong Association of De Novo Copy Number Mutations with Autism
- J. Sebat, B. Lakshmi, M. Wigler
- Biology, MedicineScience
- 20 April 2007
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Multicolor Spectral Karyotyping of Human Chromosomes
- E. Schröck, S. Manoir, T. Ried
- BiologyScience
- 26 July 1996
TLDR
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
- S. Köhler, S. Doelken, P. Robinson
- Biology, Computer ScienceNucleic Acids Res.
- 11 November 2013
TLDR
Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene.
- M. Alarcón, B. Abrahams, D. Geschwind
- Biology, PsychologyAmerican journal of human genetics
- 10 January 2008
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci
- Stephan J Sanders, Xin He, M. State
- BiologyNeuron
- 23 September 2015
Chromosomal microarray versus karyotyping for prenatal diagnosis.
- R. Wapner, C. Martin, L. Jackson
- MedicineThe New England journal of medicine
- 5 December 2012
TLDR
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
- P. Szatmari, A. Paterson, K. J. Meyer
- BiologyNature Genetics
- 1 March 2007
TLDR
Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism
- Stephan J Sanders, A. Ercan-Sencicek, M. State
- BiologyNeuron
- 9 June 2011
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs
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