• 2549 Citations
  • 28 h-Index
1965 …2020

Research output per year

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Research Output

  • 2549 Citations
  • 28 h-Index
  • 67 Article
  • 3 Review article
  • 2 Editorial
  • 1 Letter
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Article

Abnormal Iris Vasculature in Myotonic Dystrophy: An Anterior Segment Angiographic Study

Stern, L. Z., Cross, H. E. & Crebo, A. R., Apr 1978, In : Archives of Neurology. 35, 4, p. 224-227 4 p.

Research output: Contribution to journalArticle

13 Scopus citations

A clinical and histopathological study of François-Neetens speckled corneal dystrophy

Nicholson, D. H., Green, W. R., Cross, H. E., Kenyon, K. R. & Massof, D., Apr 1977, In : American Journal of Ophthalmology. 83, 4, p. 554-560 7 p.

Research output: Contribution to journalArticle

28 Scopus citations

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

39 Scopus citations

Amish demography.

Cross, H. E. & McKusick, V. A., Jun 1970, In : Social biology. 17, 2, p. 83-101 19 p.

Research output: Contribution to journalArticle

27 Scopus citations

A new oculocerebral syndrome with hypopigmentation

Cross, H. E., McKusick, V. A. & Breen, W., Mar 1967, In : The Journal of Pediatrics. 70, 3 PART 1, p. 398-406 9 p.

Research output: Contribution to journalArticle

52 Scopus citations

Arcuate corneal opacities

Smith, J. W., Smalley, L. A. & Cross, H. E., Jan 1 1977, In : American Journal of the Medical Sciences. 273, 2, p. 197-201 5 p.

Research output: Contribution to journalArticle

A survey of neurological disorders in a genetic isolate.

Cross, H. E. & McKusick, V. A., Aug 1967, In : Neurology. 17, 8 Pt 1, p. 743-751 9 p.

Research output: Contribution to journalArticle

4 Scopus citations
22 Scopus citations

Blood groups in two Amish demes

McKusick, V. A., Bias, W. B., Norum, R. A. & Cross, H. E., Mar 1 1967, In : Human Genetics. 5, 1, p. 36-41 6 p.

Research output: Contribution to journalArticle

10 Scopus citations

Cancer of the cervix in an Amish population

Cross, H. E., Kennel, E. E. & Lilienfeld, A. M., Jan 1968, In : Cancer. 21, 1, p. 102-108 7 p.

Research output: Contribution to journalArticle

19 Scopus citations

Cancer of the cervix in the Amish.

Cross, H. E., Kennel, E. E., Lilienfeld, A. M. & McKusick, V. A., Dec 1 1967, In : Transactions of the Association of American Physicians. 80, p. 133-141 9 p.

Research output: Contribution to journalArticle

2 Scopus citations

Cell proliferation in response to vitreous hemoglobin

Burke, J. M., Sipos, E. & Cross, H. E., Jan 1 1981, In : Investigative Ophthalmology and Visual Science. 20, 5, p. 575-581 7 p.

Research output: Contribution to journalArticle

23 Scopus citations

Congenital Anomalies in Duane's Retraction Syndrome

Pfaffenbach, D. D., Cross, H. E. & Kearns, T. P., Dec 1972, In : Archives of Ophthalmology. 88, 6, p. 635-639 5 p.

Research output: Contribution to journalArticle

99 Scopus citations

Craniosynostosis in the Amish

Cross, H. E. & Opitz, J. M., Dec 1969, In : The Journal of Pediatrics. 75, 6 PART 1, p. 1037-1044 8 p.

Research output: Contribution to journalArticle

14 Scopus citations

Defective mitochondrial mrna maturation is associated with spastic ataxia

Crosby, A. H., Patel, H., Chioza, B. A., Proukakis, C., Gurtz, K., Patton, M. A., Sharifi, R., Harlalka, G., Simpson, M. A., Dick, K., Reed, J. A., Al-Memar, A., Chrzanowska-Lightowlers, Z. M. A., Cross, H. E. & Lightowlers, R. N., Nov 12 2010, In : American Journal of Human Genetics. 87, 5, p. 655-660 6 p.

Research output: Contribution to journalArticle

55 Scopus citations

Differential diagnosis and treatment of dislocated lenses

Cross, H. E., Dec 1 1976, In : Birth Defects: Original Article Series. 12, 3, p. 335-346 12 p.

Research output: Contribution to journalArticle

20 Scopus citations

Discussion of Presentation by Dr Leslie A. Bard

Cross, H. E., 1979, In : Ophthalmology. 86, 10, p. 1791-1793 3 p.

Research output: Contribution to journalArticle

Duane's retraction syndrome and associated congenital malformations

Cross, H. E. & Pfaffenbach, D. D., Mar 1972, In : American Journal of Ophthalmology. 73, 3, p. 442-450 9 p.

Research output: Contribution to journalArticle

51 Scopus citations

Ectopia lentis et pupillae

Cross, H. E., Sep 1979, In : American Journal of Ophthalmology. 88, 3 PART 1, p. 381-384 4 p.

Research output: Contribution to journalArticle

22 Scopus citations

Electro-oculography in Best's macular dystrophy

Cross, H. E. & Bard, L., Jan 1974, In : American Journal of Ophthalmology. 77, 1, p. 46-50 5 p.

Research output: Contribution to journalArticle

89 Scopus citations

Examination of CSF In Fat Embolism: Report of a Case

Cross, H. E., Apr 1965, In : Archives of internal medicine. 115, 4, p. 470-474 5 p.

Research output: Contribution to journalArticle

4 Scopus citations

Familial agoitrous cretinism accompanied by musclar hypertrophy.

Cross, H. E., Hollander, C. S., Rimoin, D. L. & McKusick, V. A., Feb 1 1968, In : Pediatrics. 41, 2, p. 413-420 8 p.

Research output: Contribution to journalArticle

10 Scopus citations

Familial nanophthalmos

Cross, H. E. & Yoder, F., Mar 1976, In : American Journal of Ophthalmology. 81, 3, p. 300-306 7 p.

Research output: Contribution to journalArticle

51 Scopus citations

Genetic counseling.

Cross, H. E., Sep 1 1972, In : Transactions - American Academy of Ophthalmology and Otolaryngology. 76, 5, p. 1203-1213 11 p.

Research output: Contribution to journalArticle

1 Scopus citations

Genetic counseling of families with best macular dystrophy

Bard, L. A. & Cross, H. E., Dec 1 1975, In : Transactions of the American Academy of Ophthalmology and Otolaryngology. 79, 6, p. op-865-873

Research output: Contribution to journalArticle

21 Scopus citations

Genetics for ophthalmologists.

Cross, H. E., Mar 1 1971, In : Transactions - American Academy of Ophthalmology and Otolaryngology. 75, 2, p. 235-237 3 p.

Research output: Contribution to journalArticle

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

Jeffries, A. R., Maroofian, R., Salter, C. G., Chioza, B. A., Cross, H. E., Patton, M. A., Dempster, E., Karen Temple, I., Mackay, D. J. G., Rezwan, F. I., Aksglaede, L., Baralle, D., Dabir, T., Hunter, M. F., Kamath, A., Kumar, A., Newbury-Ecob, R., Selicorni, A., Springer, A., Van Maldergem, L. & 6 others, Varghese, V., Yachelevich, N., Tatton-Brown, K., Mill, J., Crosby, A. H. & Baple, E. L., 2019, In : Genome Research. 29, 7, p. 1057-1066 10 p.

Research output: Contribution to journalArticle

Open Access
6 Scopus citations

Histidinemia with features of the Marfan syndrome

Stevens, R., Cross, H. E. & Morrow, G., Jun 1975, In : The Journal of Pediatrics. 86, 6, p. 907-910 4 p.

Research output: Contribution to journalArticle

3 Scopus citations

Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish

Zahka, K., Kalidas, K., Simpson, M. A., Cross, H., Keller, B. B., Galambos, C., Gurtz, K., Patton, M. A. & Crosby, A. H., Oct 1 2008, In : Heart. 94, 10, p. 1326-1330 5 p.

Research output: Contribution to journalArticle

40 Scopus citations

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

41 Scopus citations

Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase

Simpson, M. A., Cross, H., Proukakis, C., Priestman, D. A., Neville, D. C. A., Reinkensmeier, G., Wang, H., Wiznitzer, M., Gurtz, K., Verganelaki, A., Pryde, A., Patton, M. A., Dwek, R. A., Butters, T. D., Platt, F. M. & Crosby, A. H., Nov 2004, In : Nature Genetics. 36, 11, p. 1225-1229 5 p.

Research output: Contribution to journalArticle

268 Scopus citations

Inheritance in epidermolysis bullosa letalis.

Cross, H. E., Wells, R. S. & Esterly, J. R., Sep 1968, In : Journal of Medical Genetics. 5, 3, p. 189-196 8 p.

Research output: Contribution to journalArticle

Open Access
13 Scopus citations

Inheritance of Fuchs’ Endothelial Dystrophy

Cross, H. E., Maumenee, A. E. & Cantolino, S. J., Mar 1971, In : Archives of Ophthalmology. 85, 3, p. 268-272 5 p.

Research output: Contribution to journalArticle

70 Scopus citations

In utero epstein-barr virus (Infectious mononucleosis) infection

Goldberg, G. N., Fulginiti, V. A., Ray, G., Ferry, P., Jones, J. F., Cross, H. & Minnich, L., Mar 1982, In : Obstetrical and Gynecological Survey. 37, 3, p. 180-181 2 p.

Research output: Contribution to journalArticle

In utero Epstein-Barr virus (infectious mononucleosis) infection

Goldberg, G. N., Fulginiti, V. A., Ray, C. G., Ferry, P., Jones, J. F., Cross, H. E. & Minnich, L., Nov 13 1981, In : Journal of the American Medical Association. 246, 14, p. 1579-1581 3 p.

Research output: Contribution to journalArticle

In Utero Epstein-Barr Virus (Infectious Mononucleosis) Infection

Goldberg, G. N., Fulginiti, V. A., Ray, C. G., Ferry, P., Jones, J. F., Minnich, L. & Cross, H., Oct 2 1981, In : JAMA: The Journal of the American Medical Association. 246, 14, p. 1579-1581 3 p.

Research output: Contribution to journalArticle

49 Scopus citations

Lethal Cystic Kidney Disease in Amish Neonates Associated With Homozygous Nonsense Mutation of NPHP3

Simpson, M. A., Cross, H. E., Cross, L., Helmuth, M. & Crosby, A. H., May 1 2009, In : American Journal of Kidney Diseases. 53, 5, p. 790-795 6 p.

Research output: Contribution to journalArticle

11 Scopus citations

Linkage studies of Best's macular dystrophy

Yoder, F. E., Cross, H. E., Chase, G. A., Fine, S. L., Freidhoff, L., Machan, C. H. & Bias, W. B., Jul 1988, In : Clinical Genetics. 34, 1, p. 26-30 5 p.

Research output: Contribution to journalArticle

6 Scopus citations

Maspardin Is Mutated in Mast Syndrome, a Complicated Form of Hereditary Spastic Paraplegia Associated with Dementia

Simpson, M. A., Cross, H., Proukakis, C., Pryde, A., Hershberger, R., Chatonnet, A., Patton, M. A. & Crosby, A. H., Nov 2003, In : American Journal of Human Genetics. 73, 5, p. 1147-1156 10 p.

Research output: Contribution to journalArticle

133 Scopus citations
2 Scopus citations

MNS1 variant associated with situs inversus and male infertility

Leslie, J. S., Rawlins, L. E., Chioza, B. A., Olubodun, O. R., Salter, C. G., Fasham, J., Jones, H. F., Cross, H. E., Lam, S., Harlalka, G. V., Muggenthaler, M. M. A., Crosby, A. H. & Baple, E. L., Jan 1 2020, In : European Journal of Human Genetics. 28, 1, p. 50-55 6 p.

Research output: Contribution to journalArticle

Mutation of HERC2 causes developmental delay with angelman-like features

Harlalka, G. V., Baple, E. L., Cross, H., Kühnle, S., Cubillos-Rojas, M., Matentzoglu, K., Patton, M. A., Wagner, K., Coblentz, R., Ford, D. L., Mackay, D. J. G., Chioza, B. A., Scheffner, M., Rosa, J. L. & Crosby, A. H., Feb 2013, In : Journal of Medical Genetics. 50, 2, p. 65-73 9 p.

Research output: Contribution to journalArticle

35 Scopus citations

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.

Harlalka, G. V., Lehman, A., Chioza, B., Baple, E. L., Maroofian, R., Cross, H., Sreekantan-Nair, A., Priestman, D. A., Al-Turki, S., McEntagart, M. E., Proukakis, C., Royle, L., Kozak, R. P., Bastaki, L., Patton, M., Wagner, K., Coblentz, R., Price, J., Mezei, M., Schlade-Bartusiak, K. & 3 others, Platt, F. M., Hurles, M. E. & Crosby, A. H., Dec 2013, In : Brain : a journal of neurology. 136, Pt 12, p. 3618-3624 7 p.

Research output: Contribution to journalArticle

Open Access
66 Scopus citations

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 2017, In : PLoS genetics. 13, 1, e1006470.

Research output: Contribution to journalArticle

8 Scopus citations

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

16 Scopus citations

Neurologic disorders in the Amish.

Cross, H. E., Dec 1 1965, In : Transactions of the American Neurological Association. 90, p. 235-236 2 p.

Research output: Contribution to journalArticle

Ocular complications in the Weill-Marchesani syndrome

Jensen, A. D., Cross, H. E. & Paton, D., Feb 1974, In : American Journal of Ophthalmology. 77, 2, p. 261-269 9 p.

Research output: Contribution to journalArticle

59 Scopus citations

Ocular manifestations in the Marfan syndrome and homocystinuria

Cross, H. E. & Jensen, A. D., Mar 1973, In : American Journal of Ophthalmology. 75, 3, p. 405-420 16 p.

Research output: Contribution to journalArticle

172 Scopus citations

Ocular trauma during amniocentesis

Cross, H. E. & Maumenee, A. E., 1974, In : Obstetrical and Gynecological Survey. 29, 5, p. 317-318 2 p.

Research output: Contribution to journalArticle

Ocular Trauma During Amniocentesis

Cross, H. E. & Maumenee, A. E., Oct 1973, In : Archives of Ophthalmology. 90, 4, p. 303-304 2 p.

Research output: Contribution to journalArticle

26 Scopus citations