• 3099 Citations
  • 30 h-Index
1994 …2020

Research output per year

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Research Output

  • 3099 Citations
  • 30 h-Index
  • 80 Article
  • 1 Comment/debate
  • 1 Review article
2006

Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations

Beaty, T. H., Hetmanski, J. B., Fallin, M. D., Park, J. W., Sull, J. W., McIntosh, I., Liang, K. Y., VanderKolk, C. A., Redett, R. J., Boyd, S., Jabs, E. W., Chong, S. S., Cheah, F. S. H., Wu-Chou, Y. H., Chen, P. K., Chiu, Y. F., Yeow, V., Ng, I. S. L., Cheng, J., Huang, S. & 4 others, Ye, X., Wang, H., Ingersoll, R. & Scott, A. F., Nov 2006, In : Human Genetics. 120, 4, p. 501-518 18 p.

Research output: Contribution to journalArticle

39 Scopus citations

Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking

Boyd, S., Fromme, J. C., Ben, J., Chong, S. S., Nauta, C., Hur, D. J., Zhang, G., Hamamoto, S., Schekman, R., Ravazzola, M., Orci, L. & Eyaid, W., Oct 2006, In : Nature Genetics. 38, 10, p. 1192-1197 6 p.

Research output: Contribution to journalArticle

193 Scopus citations

Intracranial hemorrhage as the initial manifestation of a congenital disorder of glycosylation

Cohn, R. D., Eklund, E., Bergner, A. L., Casella, J. F., Woods, S. L., Althaus, J., Blakemore, K. J., Fox, H. E., Hoover-Fong, J. E., Hamosh, A., Braverman, N. E., Freeze, H. H. & Boyd, S., Aug 2006, In : Pediatrics. 118, 2

Research output: Contribution to journalArticle

11 Scopus citations

Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients

Jehee, F. S., Alonso, L. G., Cavalcanti, D. P., Kim, C., Wall, S. A., Mulliken, J. B., Sun, M., Jabs, E. W., Boyd, S., Wilkie, A. O. M. & Passos-Bueno, M. R., Mar 2006, In : Cleft Palate-Craniofacial Journal. 43, 2, p. 148-151 4 p.

Research output: Contribution to journalArticle

15 Scopus citations

Response to letter by Arti Nanda et al. [4]

Cohen, B. A. & Boyd, S., Jul 1 2006, In : American Journal of Medical Genetics, Part A. 140, 13, p. 1490 1 p.

Research output: Contribution to journalArticle

2005

A novel MGP mutation in a consanguineous family: Review of the clinical and molecular characteristics of Keutel syndrome

Hur, D. J., Raymond, G. V., Kahler, S. G., Riegert-Johnson, D. L., Cohen, B. A. & Boyd, S., May 15 2005, In : American Journal of Medical Genetics. 135 A, 1, p. 36-40 5 p.

Research output: Contribution to journalArticle

71 Scopus citations

A reciprocal translocation 46,XY,t(8;9)(p11.2;q13) in a bladder exstrophy patient disrupts CNTNAP3 and presents evidence of a pericentromeric duplication on chromosome 9

Boyd, S., South, S. T., Radford, C. L., Patel, A., Zhang, G., Hur, D. J., Thomas, G. H., Gearhart, J. P. & Stetten, G., May 2005, In : Genomics. 85, 5, p. 622-629 8 p.

Research output: Contribution to journalArticle

20 Scopus citations

Brain morphology in nonsyndromic unicoronal craniosynostosis

Aldridge, K., Kane, A. A., Marsh, J. L., Panchal, J., Boyd, S., Yan, P., Govier, D., Ahmad, W. & Richtsmeier, J. T., Aug 2005, In : Anatomical Record - Part A Discoveries in Molecular, Cellular, and Evolutionary Biology. 285, 2, p. 690-698 9 p.

Research output: Contribution to journalArticle

57 Scopus citations

Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly

Jehee, F. S., Johnson, D., Alonso, L. G., Cavalcanti, D. P., de Sá Moreira, E., Alberto, F. L., Kok, F., Kim, C., Wall, S. A., Jabs, E. W., Boyd, S., Wilkie, A. O. M. & Passos-Bueno, M. R., Jun 2005, In : Clinical Genetics. 67, 6, p. 503-510 8 p.

Research output: Contribution to journalArticle

43 Scopus citations

Precision and error of three-dimensional phenotypic measures acquired from 3dMD photogrammetric images

Aldridge, K., Boyd, S., Capone, G. T., DeLeon, V. B. & Richtsmeier, J. T., Oct 15 2005, In : American Journal of Medical Genetics. 138 A, 3, p. 247-253 7 p.

Research output: Contribution to journalArticle

233 Scopus citations
2004

Clinical and molecular characterization of the bladder exstrophy-epispadias complex: Analysis of 232 families

Boyd, S., Dodson, J. L., Radford, C. L., Ashrafi, G. H., Beaty, T. H., Mathews, R. I., Broman, K. W. & Gearhart, J. P., Dec 2004, In : BJU International. 94, 9, p. 1337-1343 7 p.

Research output: Contribution to journalArticle

65 Scopus citations
2003

A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21

Boyd, S., Justice, C. M., Eyaid, W., McKusick, V. A., Lachman, R. S., Chowdry, A. B., Jabak, M., Zwaan, J., Wilson, A. F. & Jabs, E. W., Jul 2003, In : Human Genetics. 113, 1, p. 1-9 9 p.

Research output: Contribution to journalArticle

27 Scopus citations

Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia

Paznekas, W. A., Boyd, S., Shapiro, R. E., Daniels, O., Wollnik, B., Keegan, C. E., Innis, J. W., Dinulos, M. B., Christian, C., Hannibal, M. C. & Jabs, E. W., Feb 1 2003, In : American Journal of Human Genetics. 72, 2, p. 408-418 11 p.

Research output: Contribution to journalArticle

466 Scopus citations

The relationship of plasma glutamine to ammonium and of glycine to acid-base balance in propionic acidaemia

Al-Hassnan, Z. N., Boyd, S., Praphanphoj, V., Hamosh, A., Braverman, N. E., Thomas, G. H. & Geraghty, M. T., 2003, In : Journal of Inherited Metabolic Disease. 26, 1, p. 89-91 3 p.

Research output: Contribution to journalArticle

13 Scopus citations
2002

Physical map of the chromosome 6q22 region containing the oculodentodigital dysplasia locus: Analysis of thirteen candidate genes and identification of novel ESTS and DNA polymorphisms

Boyd, S., Chowdry, A. B., Shapiro, R. E., Paznekas, W. A., Wandstrat, A. E., Choi, J. W., Kasch, L., Zhang, G., Wollnik, B., Burgess, C. E., Schalling, M., Lovett, M. & Jabs, E. W., 2002, In : Cytogenetic and Genome Research. 98, 1, p. 29-37 9 p.

Research output: Contribution to journalArticle

7 Scopus citations
2000

Online Mendelian Inheritance in Man (OMIM) as a knowledgebase for human developmental disorders

Boyd, S. & Jabs, EW., 2000, In : Clinical Genetics. 57, 4, p. 253-266 14 p.

Research output: Contribution to journalArticle

47 Scopus citations

Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome

Glaser, R. L., Jiang, W., Boyd, S., Tran, A. K., Zachary, A. A., Van Maldergem, L., Johnson, D., Walsh, S., Oldridge, M., Wall, S. A., Wilkie, A. O. M. & Jabs, E. W., 2000, In : American Journal of Human Genetics. 66, 3, p. 768-777 10 p.

Research output: Contribution to journalArticle

129 Scopus citations

Three cases of intravenous sodium benzoate and sodium phenylacetate toxicity occurring in the treatment of acute hyperammonaemia

Praphanphoj, V., Boyd, S., Waber, L. J., Brusilow, S. W. & Geraghty, M. T., 2000, In : Journal of Inherited Metabolic Disease. 23, 2, p. 129-136 8 p.

Research output: Contribution to journalArticle

44 Scopus citations
1999

A unique point mutation in the PMP22 gene is associated with Charcot- Marie-Tooth disease and deafness

Kovach, M. J., Lin, J. P., Boyd, S., Campbell, K., Mazzeo, L., Herman, K., Rimer, L. A., Frank, W., Llewellyn, B., Jabs, E. W., Gelber, D. & Kimonis, V. E., 1999, In : American Journal of Human Genetics. 64, 6, p. 1580-1593 14 p.

Research output: Contribution to journalArticle

58 Scopus citations

A unique point mutation in the PMP22 gene is associated with Deafness, Charcot‐Marie-Tooth and Anticipation

Kimonis, V. E., Kovach, M. J., Lin, J. P., Boyd, S., Campbell, K., Mazzeo, L., Herman, K., Frank, W., Llewellyn, B., Jabs, E. W. & Gelber, D., 1999, In : Genetics in Medicine. 1, 2, p. 44 1 p.

Research output: Contribution to journalArticle

Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23

Boyd, S., Jabs, E. W., LaBuda, M., Jamal, J. E., Torbergsen, T., Ptáček, L. J., Rogers, R. C., Nyberg-Hansen, R., Opjordsmoen, S., Zeller, C. B., Stine, O. C., Stalker, H. J., Zori, R. T. & Shapiro, R. E., May 15 1999, In : Genomics. 58, 1, p. 34-40 7 p.

Research output: Contribution to journalArticle

26 Scopus citations
1998

Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndrome

Flanagan, N., Boyd, S., Harper, J., Kyne, L., Earley, M., Watson, R., Jabs, E. W. & Geraghty, M. T., 1998, In : Journal of Medical Genetics. 35, 9, p. 763-766 4 p.

Research output: Contribution to journalArticle

9 Scopus citations
1997

High frequency in vivo loss of heterozygosity is primarily a consequence of mitotic recombination

Gupta, P. K., Sahota, A., Boyd, S., Bye, S., Shao, C., Patrick O'Neill, J., Hunter, T. C., Albertini, R. J., Stambrook, P. J. & Tischfieid, J. A., 1997, In : Cancer Research. 57, 6, p. 1188-1193 6 p.

Research output: Contribution to journalArticle

112 Scopus citations
1996

Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with Pelizaeus-Merzbacher disease

Nance, M. A., Boyd, S., Pratt, V. M., Taylor, S., Hodes, M. E. & Dlouhy, S. R., Nov 1996, In : Neurology. 47, 5, p. 1333-1335 3 p.

Research output: Contribution to journalArticle

32 Scopus citations

Identification and application of polymorphisms flanking the human adenine phosphoribosyltransferase gene

Boyd, S., Sahota, A. & Tischfield, J. A., 1996, In : Human Mutation. 8, 3, p. 214-215 2 p.

Research output: Contribution to journalArticle

4 Scopus citations
1995

Analysis of in vivo somatic mutations at the APRT locus

Gupta, P. K., Sahota, A., Boyd, S., Bye, S., O'Neill, J. P., Hunter, T. C., Albertini, R. J. & Tischfield, J. A., 1995, In : Advances in Experimental Medicine and Biology. 370, p. 653-656 4 p.

Research output: Contribution to journalArticle

3 Scopus citations

Germline and somatic mutation at the APRT locus of mice and man

Tischfield, J. A., Engle, S. J., Gupta, P. K., Bye, S., Boyd, S., Shao, C., O'Neill, P., Albertini, R. J., Stambrook, P. J. & Sahota, A. S., 1995, In : Advances in Experimental Medicine and Biology. 370, p. 661-664 4 p.

Research output: Contribution to journalArticle

3 Scopus citations

Identification of polymorphic markers flanking the human APRT gene

Boyd, S., Sahota, A. & Tischfield, J. A., 1995, In : Advances in Experimental Medicine and Biology. 370, p. 657-660 4 p.

Research output: Contribution to journalArticle

Pelizaeus-Merzbacher disease caused by a de novo mutation that originated in exon 2 of the maternal great-grandfather of the propositus

Pratt, V. M., Boyd, S., Green, K., Hodes, M. E. & Dlouhy, S. R., 1995, In : American Journal of Medical Genetics. 58, 1, p. 70-73 4 p.

Research output: Contribution to journalArticle

7 Scopus citations

Pelizaeus-Merzbacher disease in a family of Portuguese origin caused by a point mutation in exon 5 of the proteolipid protein gene

Pratt, V. M., Boyd, S., Dlouhy, S. R., Silver, K., Der Kaloustian, V. M. & Hodes, M. E., 1995, In : American Journal of Medical Genetics. 55, 4, p. 402-404 3 p.

Research output: Contribution to journalArticle

11 Scopus citations
1994

Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis

Sahota, A., Chen, J., Boyd, S., Gault, M. H. & Tischfield, J. A., May 1994, In : Human Molecular Genetics. 3, 5, p. 817-818 2 p.

Research output: Contribution to journalArticle

13 Scopus citations
1800

Unilateral and bilateral expression of a quantitative trait: Asymmetry and symmetry in coronal craniosynostosis

Heuzé, Y., Martínez-Abadías, N., Stella, J. M., Senders, C. W., Boyadjiev, S. A., Lo, L. J. & Richtsmeier, J. T., 1800, (Accepted/In press) In : Journal of Experimental Zoology Part B: Molecular and Developmental Evolution.

Research output: Contribution to journalArticle