Belmont, John

The 2017 international classification of the Ehlers–Danlos syndromes

Malfait, F., Francomano, C., Byers, P., Belmont, J., Berglund, B., Black, J., Bloom, L., Bowen, J. M., Brady, A. F., Burrows, N. P., et al. (2017) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 1,936

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Brunetti-Pierri, N., Berg, J. S., Scaglia, F., Belmont, J., Bacino, C. A., Sahoo, T., Lalani, S. R., Graham, B., Lee, B., Shinawi, M., et al. (2008) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 625

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

Shinawi, M., Liu, P., Kang, S.-H. L., Shen, J., Belmont, J. W., Scott, D. A., Probst, F. J., Craigen, W. J., Graham, B. H., Pursley, A., et al. (2010) · Journal of Medical Genetics

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 580

Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome

Byers, P. H., Belmont, J., Black, J., De Backer, J., Frank, M., Jeunemaitre, X., Johnson, D., Pepin, M., Robert, L., Sanders, L., et al. (2017) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 381

Lessons learned from additional research analyses of unsolved clinical exome cases

Eldomery, M. K., Coban-Akdemir, Z., Harel, T., Rosenfeld, J. A., Gambin, T., Stray-Pedersen, A., Küry, S., Mercier, S., Lessel, D., Denecke, J., et al. (2017) · Genome Medicine

Genomics and Rare DiseasesConnective tissue disorders research

Cited by 230

A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers

Boycott, K. M., Hartley, T., Biesecker, L. G., Gibbs, R. A., Innes, A. M., Riess, O., Belmont, J., Dunwoodie, S. L., Jojic, N., Lassmann, T., et al. (2019) · Cell

Genomics and Rare DiseasesConnective tissue disorders research

Cited by 177

20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits

Lalani, S. R., Thakuria, J. V., Cox, G. F., Wang, X., Bi, W., Bray, M. S., Shaw, C., Cheung, S. W., Chinault, A. C., Boggs, B. A., et al. (2009) · Journal of Medical Genetics

Genomic variations and chromosomal abnormalitiesCardiac Arrhythmias and Treatments

Cited by 108

Argentine population genetic structure: Large variance in Amerindian contribution

Seldin, M. F., Tian, C., Shigeta, R., Scherbarth, H. R., Silva, G., Belmont, J. W., Kittles, R., Gamron, S., Allevi, A., Palatnik, S. A., et al. (2007) · American Journal of Physical Anthropology

Forensic and Genetic ResearchGenetic diversity and population structure

Cited by 90