Clarke, Angus

X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein

Kere, J., Srivastava, A. K., Montonen, O., Zonana, J., Thomas, N., Ferguson, B., Munoz, F., Morgan, D., Clarke, A., Baybayan, P., et al. (1996) · Nature Genetics

dental development and anomaliesHair Growth and Disorders

Cited by 749

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Kaplanis, J., Samocha, K. E., Wiel, L., Zhang, Z., Arvai, K. J., Eberhardt, R. Y., Gallone, G., Lelieveld, S. H., Martin, H. C., McRae, J. F., et al. (2020) · Nature

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 615

Clinical aspects of X-linked hypohidrotic ectodermal dysplasia.

Clarke, A., Phillips, D. I., Brown, R., & Harper, P. S. (1987) · Archives of Disease in Childhood

dental development and anomaliesImmunodeficiency and Autoimmune Disorders

Cited by 274

Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway.

Wright, J. T., Fete, M., Schneider, H., Zinser, M., Koster, M. I., Clarke, A. J., Hadj‐Rabia, S., Tadini, G., Pagnan, N., Visinoni, A. F., et al. (2019) · American Journal of Medical Genetics Part A

dental development and anomaliesGenetic and rare skin diseases.

Cited by 185

Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype

Sadleir, L. G., Mountier, E. I., Gill, D., Davis, S., Joshi, C., DeVile, C., Kurian, M. A., Study, F. T. D., Mandelstam, S., Wirrell, E., et al. (2017) · Neurology

Epilepsy research and treatmentIon channel regulation and function

Cited by 131

Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

Levy, M. A., Relator, R., McConkey, H., Pranckeviciene, E., Kerkhof, J., Barat‐Houari, M., Bargiacchi, S., Biamino, E., Palomares Bralo, M., Cappuccio, G., et al. (2022) · Human Mutation

Epigenetics and DNA MethylationGenetics and Neurodevelopmental Disorders

Cited by 76

Molecular Pathway-Based Classification of Ectodermal Dysplasias: First Five-Yearly Update

Peschel, N., Wright, J. T., Koster, M. I., Clarke, A. J., Tadini, G., Fete, M., Hadj-Rabia, S., Sybert, V. P., Norderyd, J., Maier-Wohlfart, S., et al. (2022) · Genes

dental development and anomaliesGenetic and rare skin diseases.

Cited by 60

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Klöckner, C., Sticht, H., Zacher, P., Popp, B., Babcock, H. E., Bakker, D. P., Barwick, K., Bonfert, M. V., Bönnemann, C. G., Brilstra, E. H., et al. (2021) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersEpilepsy research and treatment

Cited by 47

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

McRae, J. F., Clayton, S., Fitzgerald, T. W., Kaplanis, J., Prigmore, E., Rajan, D., Sifrim, A., Aitken, S., Akawi, N., Alvi, M., et al. (2016) · bioRxiv (Cold Spring Harbor Laboratory)

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 30