Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2

Stefan-M. Pulst, Alex Nechiporuk, Tamilla Nechiporuk, +13

Nature Genetics

Molecular NeuroscienceGenetic DisorderMedicineGeneticsMolecular Genetics +4

The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

Jan O. Korbel, Tal Tirosh‐Wagner, Alexander E. Urban, +30

Proceedings of the National Academy of Sciences

Down SyndromeSevere Mental RetardationDevelopmental BiologyMendelian DisorderGenetic Disorder +12

Down syndrome congenital heart disease: A narrowed region and a candidate gene

Gillian M. Barlow, Xiao–Ning Chen, Gary E. Lyons, +9

Genetics in Medicine

Down SyndromeHeart FailurePediatric Heart DiseaseGeneticsNarrowed Region +6

Isolation and Characterization of the Human MRE11 Homologue

John H.J. Petrini, Mary E. Walsh, Catherine DiMare, +3

Genomics

ChromatinHuman Mre11 HomologueGenetic DisorderGeneticsMolecular Genetics +2

Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on Chromosome 7q11.23

Hamao Hirota, Rumiko Matsuoka, Xiao–Ning Chen, +7

Genetics in Medicine

Chromosome 7Q11.23Genetic DisorderGeneticsPsychiatric GeneticsNeurogenetics +3

Cloning, Characterization, and Copy Number of the Murine Survival Motor Neuron Gene: Homolog of the Spinal Muscular Atrophy-Determining Gene

Christine J. DiDonato, Xiao–Ning Chen, David Noya, +3

Genome Research

Muscle FunctionGeneticsGenomic Mechanism500-Kb Inverted DuplicationDisease Gene Identification +20

Deletion of chromosome 21 disturbs human brain morphogenesis

Guimei Yao, Xiao–Ning Chen, Laura Flores‐Sarnat, +6

Genetics in Medicine

Developmental BiologyCytogeneticsBrain DevelopmentGenetic DisorderChromosome Biology +5

Involvement of Protein Kinase Cε (PKCε) in Thyroid Cell Death

Jeffrey A. Knauf, Rossella Elisei, Daria Mochly‐Rosen, +5

Journal of Biological Chemistry

Human Genome Anatomy: BACs Integrating the Genetic and Cytogenetic Maps for Bridging Genome and Biomedicine

Julie R. Korenberg, Xiao–Ning Chen, Zhiguang Sun, +15

Genome Research

Mammalian DSCAMs: roles in the development of the spinal cord, cortex, and cerebellum?

Gillian M. Barlow, Bruce Micales, Xiao–Ning Chen, +2

Biochemical and Biophysical Research Communications