• 2521 Citations
  • 28 h-Index
1965 …2019

Research output per year

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Research Output

  • 2521 Citations
  • 28 h-Index
  • 67 Article
  • 3 Review article
  • 2 Editorial
  • 1 Letter
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Article
2019

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
4 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 2019, (Accepted/In press) In : European Journal of Human Genetics.

Research output: Contribution to journalArticle

2017

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

7 Scopus citations
2015

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., 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

24 Scopus citations
2014

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

38 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

39 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

14 Scopus citations
2013

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 1 2013, In : Journal of Medical Genetics. 50, 2, p. 65-73 9 p.

Research output: Contribution to journalArticle

33 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
63 Scopus citations

SLITRK6 mutations cause myopia and deafness in humans and mice

Tekin, M., Chioza, B. A., Matsumoto, Y., Diaz-Horta, O., Cross, H. E., Duman, D., Kokotas, H., Moore-Barton, H. L., Sakoori, K., Ota, M., Odaka, Y. S., Foster, J., Cengiz, F. B., Tokgoz-Yilmaz, S., Tekeli, O., Grigoriadou, M., Petersen, M. B., Sreekantan-Nair, A., Gurtz, K., Xia, X. J. & 5 others, Pandya, A., Patton, M. A., Young, J. I., Aruga, J. & Crosby, A. H., May 1 2013, In : Journal of Clinical Investigation. 123, 5, p. 2094-2102 9 p.

Research output: Contribution to journalArticle

32 Scopus citations
2010

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

53 Scopus citations
2009

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
2008

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

39 Scopus citations
2004

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 1 2004, In : Nature Genetics. 36, 11, p. 1225-1229 5 p.

Research output: Contribution to journalArticle

264 Scopus citations

Troyer syndrome revisited: A clinical and radiological study of a complicated hereditary spastic paraplegia

Proukakis, C., Cross, H., Patel, H., Patton, M. A., Valentine, A. & Crosby, A. H., Sep 2004, In : Journal of Neurology. 251, 9, p. 1105-1110 6 p.

Research output: Contribution to journalArticle

38 Scopus citations
2003

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

The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia

Ciccarelli, F. D., Proukakis, C., Patel, H., Cross, H., Azam, S., Patton, M. A., Bork, P. & Crosby, A. H., Apr 1 2003, In : Genomics. 81, 4, p. 437-441 5 p.

Research output: Contribution to journalArticle

114 Scopus citations
2002

SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia

Patel, H., Cross, H., Proukakis, C., Hershberger, R., Bork, P., Ciccarelli, F. D., Patton, M. A., McKusick, V. A. & Crosby, A. H., Aug 2002, In : Nature Genetics. 31, 4, p. 347-348 2 p.

Research output: Contribution to journalArticle

189 Scopus citations
1988

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
1982

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

1981

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

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
1979

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

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

The Rieger syndrome: An autosomal dominant disorder with ocular, dental and systemic abnormalities

Cross, H. E., Jorgenson, R. J., Levin, L. S. & Kelly, T. E., Jan 1 1979, In : Perspectives in Ophthalmology. 3, 1, p. 3-16 14 p.

Research output: Contribution to journalArticle

15 Scopus citations
1978

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

The Rieger syndrome

Jorgenson, R. J., Levin, L. S., Cross, H. E., Yoder, F. & Kelly, T. E., Jan 1 1978, In : Unknown Journal. 2, 3, p. 307-318 12 p.

Research output: Contribution to journalArticle

58 Scopus citations
1977

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

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

Retinoblastoma in a patient with a 13qXp translocation

Cross, H. E., Hansen, R. C., Morrow, G. & Davis, J. R., Oct 1977, In : American Journal of Ophthalmology. 84, 4, p. 548-554 7 p.

Research output: Contribution to journalArticle

41 Scopus citations

The heritability of glaucoma.

Cross, H. E., Dec 1 1977, In : Transactions of the Pacific Coast Oto-Ophthalmological Society annual meeting. 58, p. 89-95 7 p.

Research output: Contribution to journalArticle

1976

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

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

50 Scopus citations

Population studies and the Old Order Amish

Cross, H. E., Dec 1 1976, In : Nature. 262, 5563, p. 17-20 4 p.

Research output: Contribution to journalArticle

31 Scopus citations
1975

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

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

The heritability of strabismus

Cross, H. E., Jan 1 1975, In : American Orthoptic Journal. Vol.25, p. 11-17 7 p.

Research output: Contribution to journalArticle

8 Scopus citations
1974

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

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 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

1973

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

171 Scopus citations

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

Progressive spontaneous dissolution of the iris

Cross, H. E. & Maumenee, A. E., Jan 1 1973, In : Survey of Ophthalmology. 18, 3, p. 186-199 14 p.

Research output: Contribution to journalArticle

10 Scopus citations
1972

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

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

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

Surgical treatment of dislocated lenses in the Marfan syndrome and homocystinuria.

Jensen, A. D. & Cross, H. E., Nov 1 1972, In : Transactions - American Academy of Ophthalmology and Otolaryngology. 76, 6, p. 1491-1499 9 p.

Research output: Contribution to journalArticle

28 Scopus citations
1971

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

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

69 Scopus citations