J. Harris

发表

Abnormal dendritic spines in fragile X knockout mice: maturation and pruning deficits.

I. Weiler, W. Greenough, T. Comery, 1997, Proceedings of the National Academy of Sciences of the United States of America.

Glucosephosphate isomerase (GPI) deficiency mutations associated with hereditary nonspherocytic hemolytic anemia (HNSHA).

L. Forman, E. Beutler, C. West, 1997, Blood cells, molecules & diseases.

Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses.

L. Peltonen, I. Järvelä, M. Gardiner, 1994, American journal of human genetics.

Tissue heterogeneity of the FMR1 mutation in a high-functioning male with fragile X syndrome.

W. Greenough, S. Hersch, A. Taylor, 1999, American journal of medical genetics.

Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects

P. Kwok, S. Chervitz, M. Clark, 2015, Clinical genetics.

Human Embryos in Stem Cell Research: Property and Recompense

M. Quigley, J. Harris, S. Devaney, 2012 .

Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: a quantitative examination.

I. Weiler, W. Greenough, R. Swain, 2001, American journal of medical genetics.

Linkage analysis of late-infantile neuronal ceroid-lipofuscinosis.

L. Peltonen, I. Järvelä, M. Gardiner, 1995, American journal of medical genetics.

The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1.

J. Martignetti, R. Desnick, A. Savoia, 2000, American journal of human genetics.

Kabuki syndrome: international consensus diagnostic criteria

N. Niikawa, G. Merla, S. Banka, 2018, Journal of Medical Genetics.

The value of microarray-based comparative genomic hybridisation (aCGH) testing in the paediatric clinic

J. Clayton-Smith, T. Briggs, P. Arkwright, 2015, Archives of Disease in Childhood.

A major locus for myoclonus-dystonia maps to chromosome 7q in eight families.

M. Brin, A. Lang, X. Breakefield, 2000, American journal of human genetics.

Non-oral manifestations in adults with a clinical and molecularly confirmed diagnosis of periodontal Ehlers-Danlos syndrome

J. Zschocke, N. Ghali, D. Johnson, 2023, Frontiers in Genetics.

Molecularly confirmed Kabuki (Niikawa-Kuroki) syndrome patients demonstrate a specific cognitive profile with extensive visuospatial abnormalities.

E. Mahone, H. Bjornsson, J. Harris, 2019, Journal of intellectual disability research : JIDR.