D. Brook

发表

Clinical and molecular aspects of the myotonic dystrophies: A review

D. Hilton‐Jones, Laura E. Machuca-Tzili, D. Brook, 2005, Muscle & nerve.

A Common Variant in the PTPN11 Gene Contributes to the Risk of Tetralogy of Fallot

H. Cordell, S. Bhattacharya, B. Keavney, 2012, Circulation. Cardiovascular genetics.

Alpha-cardiac actin mutations produce atrial septal defects.

M. Vikkula, A. Jonzon, K. Trybus, 2008, Human molecular genetics.

Faculty Opinions recommendation of Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.

D. Brook, 2007 .

Deleterious genetic variants in NOTCH1 are a major contributor to the incidence of non-syndromic Tetralogy of Fallot

Kathryn E. Hentges, Matthieu J. Miossec, G. Bourque, 2018, bioRxiv.

Transcriptome alterations in myotonic dystrophy skeletal muscle and heart.

Eric T. Wang, E. Wang, C. Burge, 2018, Human molecular genetics.

Four restriction fragment length polymorphisms revealed by probes from a single cosmid map to chromosome 19.

G. Bruns, D. Shaw, R. Magenis, 1986, American journal of human genetics.

Characterization of a YAC and cosmid contig containing markers tightly linked to the myotonic dystrophy locus on chromosome 19.

T. Ashizawa, D. Shaw, P. de Jong, 1992, Genomics.

Human glandular Kallikrein genes: genetic and physical mapping of the KLK1 locus using a highly polymorphic microsatellite PCR marker.

R. Richards, K. Holman, D. Shaw, 1991, Genomics.

Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

H. Mefford, I. Thiffault, T. Pastinen, 2021, Genetics in Medicine.

Title 1 Distinct genetic architectures for syndromic and nonsyndromic congenital 2 heart defects identified by exome sequencing 3

Tomas W. Fitzgerald, G. J. Swaminathan, J. Danesh, 2016 .

Evidence against Linkage of von Recklinghausen Neurofibromatosis and Chromosome 19 Markers

D. Shaw, M. Sarfarazi, A. Meredith, 1986, Annals of the New York Academy of Sciences.

Physical Interaction between TBX5 and MEF2C Is Required for Early Heart Development

E. A. Packham, T. K. Ghosh, T. Self, 2009, Molecular and Cellular Biology.