• 2429 Citations
  • 28 h-Index
1965 …2017
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Fingerprint Dive into the research topics where Harold E Cross is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 1 Similar Profiles
Amish Medicine & Life Sciences
Pedigree Medicine & Life Sciences
Mutation Medicine & Life Sciences
Hereditary Spastic Paraplegia Medicine & Life Sciences
Preschool Children Medicine & Life Sciences
Recessive Genes Medicine & Life Sciences
Eye Abnormalities Medicine & Life Sciences
Marfan Syndrome Medicine & Life Sciences

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Research Output 1965 2017

  • 2429 Citations
  • 28 h-Index
  • 70 Article
  • 1 Chapter
5 Citations (Scopus)

Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice

Muggenthaler, M. M. A., Chowdhury, B., Hasan, S. N., Cross, H. E., Mark, B., Harlalka, G. V., Patton, M. A., Ishida, M., Behr, E. R., Sharma, S., Zahka, K., Faqeih, E., Blakley, B., Jackson, M., Lees, M., Dolinsky, V., Cross, L., Stanier, P., Salter, C., Baple, E. L. & 4 others, Alkuraya, F. S., Crosby, A. H., Triggs-Raine, B. & Chioza, B. A., Jan 1 2017, In : PLoS Genetics. 13, 1, e1006470.

Research output: Contribution to journalArticle

cor triatriatum
Cor Triatriatum
hyaluronoglucosaminidase
Hyaluronoglucosaminidase
mutation
22 Citations (Scopus)

Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73

Jinks, R. N., Puffenberger, E. G., Baple, E., Harding, B., Crino, P., Fogo, A. B., Wenger, O., Xin, B., Koehler, A. E., McGlincy, M. H., Provencher, M. M., Smith, J. D., Tran, L., Al Turki, S., Chioza, B. A., Cross, H. E., Harlalka, G. V., Hurles, M. E., Maroofian, R., Heaps, A. D. & 10 others, Morton, M. C., Stempak, L., Hildebrandt, F., Sadowski, C. E., Zaritsky, J., Campellone, K., Morton, D. H., Wang, H., Crosby, A. & Strauss, K. A., Aug 1 2015, In : Brain. 138, 8, p. 2173-2190 18 p.

Research output: Contribution to journalArticle

Corpus Striatum
Tubulin
Kidney
Microtubules
Mutation
33 Citations (Scopus)

A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression

Wilson, W. C., Hornig-Do, H. T., Bruni, F., Chang, J. H. O., Jourdain, A. A., Martinou, J. C., Falkenberg, M., Spåhr, H., Larsson, N. G., Lewis, R. J., Hewitt, L., Baslé, A., Cross, H. E., Tong, L., Lebel, R. R., Crosby, A. H., Chrzanowska-Lightowlers, Z. M. A. & Lightowlers, R. N., Dec 1 2014, In : Human Molecular Genetics. 23, 23, p. 6345-6355 11 p.

Research output: Contribution to journalArticle

Polynucleotide Adenylyltransferase
Mitochondrial Genes
Polyadenylation
Gene Expression
Mutation
35 Citations (Scopus)

Hypomorphic PCNA mutation underlies a human DNA repair disorder

Baple, E. L., Chambers, H., Cross, H. E., Fawcett, H., Nakazawa, Y., Chioza, B. A., Harlalka, G. V., Mansour, S., Sreekantan-Nair, A., Patton, M. A., Muggenthaler, M., Rich, P., Wagner, K., Coblentz, R., Stein, C. K., Last, J. I., Taylor, A. M. R., Jackson, A. P., Ogi, T., Lehmann, A. R. & 2 others, Green, C. M. & Crosby, A. H., Jul 1 2014, In : Journal of Clinical Investigation. 124, 7, p. 3137-3146 10 p.

Research output: Contribution to journalArticle

Proliferating Cell Nuclear Antigen
DNA Repair
Mutation
DNA Replication
Trichothiodystrophy Syndromes
12 Citations (Scopus)

Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures

Baple, E. L., Maroofian, R., Chioza, B. A., Izadi, M., Cross, H. E., Al-Turki, S., Barwick, K., Skrzypiec, A., Pawlak, R., Wagner, K., Coblentz, R., Zainy, T., Patton, M. A., Mansour, S., Rich, P., Qualmann, B., Hurles, M. E., Kessels, M. M. & Crosby, A. H., Jan 2 2014, In : American Journal of Human Genetics. 94, 1, p. 87-94 8 p.

Research output: Contribution to journalArticle

Megalencephaly
Seizures
Amish
Exome
Mutation