Stephen Dlouhy

  • 4574 Citations
  • 35 h-Index
1979 …2018
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  • 3 Similar Profiles
Pelizaeus-Merzbacher Disease Medicine & Life Sciences
Proteolipids Medicine & Life Sciences
Mutation Medicine & Life Sciences
Neurologic Mutant Mice Medicine & Life Sciences
Androgen-Binding Protein Medicine & Life Sciences
Exons Medicine & Life Sciences
Genes Medicine & Life Sciences
Proteins Medicine & Life Sciences

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Publications 1979 2018

  • 4574 Citations
  • 35 h-Index
  • 95 Article
  • 2 Chapter

Novel Homozygous Deletion in STRADA Gene Associated With Polyhydramnios, Megalencephaly, and Epilepsy in 2 Siblings: Implications for Diagnosis and Treatment

Nelson, K., Jackman, C., Bell, J., Shih, C-S., Payne, K., Dlouhy, S. & Walsh, L., Dec 1 2018, In : Journal of Child Neurology. 33, 14, p. 925-929 5 p.

Research output: Contribution to journalArticle


The progression of Wiedemann–Steiner syndrome in adulthood and two novel variants in the KMT2A gene

Feldman, H. R., Dlouhy, S., Lah, M. D., Payne, K. K. & Weaver, D., Jan 1 2018, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Developmental Disabilities
Intellectual Disability

Sinus pericranii in achondroplasia: A case report and review of the literature

Scott, A. A., Hodge, K. D., Torres-Martinez, W., Dlouhy, S., Smith, J. & Weaver, D., 2017, In : Clinical Dysmorphology. 26, 4, p. 252-255 4 p.

Research output: Contribution to journalArticle

Sinus Pericranii
Vascular Malformations
Intracranial Pressure
Craniocerebral Trauma

Intragenic CFTR Duplication and 5T/12TG Variant in a Patient with Non-Classic Cystic Fibrosis

Celestino-Soper, P. B. S., Simpson, E., Tumbleson Brink, D., Lynnes, T. C., Dlouhy, S., Vatta, M., Yeley, J., Brown, C. & Bai, S., Dec 20 2016, In : Scientific Reports. 6, 38776.

Research output: Contribution to journalArticle

Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Multiplex Polymerase Chain Reaction
2 Citations (Scopus)

Molecular diagnosis of myotonic dystrophy

Chakraborty, S., Vatta, M., Bachinski, L. L., Krahe, R., Dlouhy, S. & Bai, S., 2016, In : Current Protocols in Human Genetics. 2016, p. 9.29.1-9.29.19

Research output: Contribution to journalArticle

Myotonic Dystrophy
Molecular Pathology
3' Untranslated Regions
Muscular Diseases
Microsatellite Repeats