• 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

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations

Lee, E., Le, T., Zhu, Y., Elakis, G., Turner, A., Lo, W., Venselaar, H., Verrenkamp, C. A., Snow, N., Mowat, D., Kirk, E. P., Sachdev, R., Smith, J., Brown, N. J., Wallis, M., Barnett, C., McKenzie, F., Freckmann, M. L., Collins, F., Chopra, M. & 19 others, Gregersen, N., Hayes, I., Rajagopalan, S., Tan, T. Y., Stark, Z., Savarirayan, R., Yeung, A., Adès, L., Gattas, M., Gibson, K., Gabbett, M., Amor, D. J., Lattanzi, W., Boyd, S., Haan, E., Gianoutsos, M., Cox, T. C., Buckley, M. F. & Roscioli, T., Sep 1 2018, In : Genetics in Medicine. 20, 9, p. 1061-1068 8 p.

Research output: Contribution to journalArticle

12 Scopus citations

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

A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9

Justice, C. M., Yagnik, G., Kim, Y., Peter, I., Jabs, E. W., Erazo, M., Ye, X., Ainehsazan, E., Shi, L., Cunningham, M. L., Kimonis, V., Roscioli, T., Wall, S. A., Wilkie, A. O. M., Stoler, J., Richtsmeier, J. T., Heuzé, Y., Sanchez-Lara, P. A., Buckley, M. F., Druschel, C. M. & 13 others, Mills, J. L., Caggana, M., Romitti, P. A., Kay, D. M., Senders, C. W., Taub, P. J., Klein, O. D., Boggan, J. E., Zwienenberg-Lee, M., Naydenov, C., Kim, J., Wilson, A. F. & Boyd, S., Dec 2012, In : Nature Genetics. 44, 12, p. 1360-1364 5 p.

Research output: Contribution to journalArticle

70 Scopus citations

A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis

The National Birth Defects Prevention Study, Jan 1 2020, (Accepted/In press) In : Human Genetics.

Research output: Contribution to journalArticle

1 Scopus citations

ALX4 gain-of-function mutations in nonsyndromic craniosynostosis

Yagnik, G., Ghuman, A., Kim, S., Stevens, C. G., Kimonis, V., Stoler, J., Sanchez-Lara, P. A., Bernstein, J. A., Naydenov, C., Drissi, H., Cunningham, M. L., Kim, J. & Boyd, S., Dec 2012, In : Human Mutation. 33, 12, p. 1626-1629 4 p.

Research output: Contribution to journalArticle

14 Scopus citations

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

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

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

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

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

A variant associated with sagittal nonsyndromic craniosynostosis alters the regulatory function of a non-coding element

Justice, C. M., Kim, J., Kim, S. D., Kim, K., Yagnik, G., Cuellar, A., Carrington, B., Lu, C. L., Sood, R., Boyd, S. & Wilson, A. F., Nov 1 2017, In : American Journal of Medical Genetics, Part A. 173, 11, p. 2893-2897 5 p.

Research output: Contribution to journalArticle

5 Scopus citations

BBS9 gene in nonsyndromic craniosynostosis: Role of the primary cilium in the aberrant ossification of the suture osteogenic niche

Barba, M., Di Pietro, L., Massimi, L., Geloso, M. C., Frassanito, P., Caldarelli, M., Michetti, F., Della Longa, S., Romitti, P. A., Di Rocco, C., Arcovito, A., Parolini, O., Tamburrini, G., Bernardini, C., Boyd, S. & Lattanzi, W., Jul 1 2018, In : Bone. 112, p. 58-70 13 p.

Research output: Contribution to journalArticle

4 Scopus citations

Bladder exstrophy-epispadias complex

Ludwig, M., Ching, B., Reutter, H. & Boyd, S., Jun 2009, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 85, 6, p. 509-522 14 p.

Research output: Contribution to journalArticle

31 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

Candidate gene association study implicates p63 in the etiology of nonsyndromic bladder-exstrophy-epispadias complex

Qi, L., Wang, M., Yagnik, G., Mattheisen, M., Gearhart, J. P., lakshmanan, Y., Ebert, A. K., Rösch, W., Ludwig, M., Draaken, M., Reutter, H. & Boyd, S., Dec 2013, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 97, 12, p. 759-763 5 p.

Research output: Contribution to journalArticle

6 Scopus citations

Classic bladder exstrophy: Frequent 22q11.21 duplications and definition of a 414 kb phenocritical region

Draaken, M., Baudisch, F., Timmermann, B., Kuhl, H., Kerick, M., Proske, J., Wittler, L., Pennimpede, T., Ebert, A. K., Rösch, W., Stein, R., Bartels, E., von Lowtzow, C., Boemers, T. M., Herms, S., Gearhart, J. P., Lakshmanan, Y., Kockum, C. C., Holmdahl, G., Läckgren, G. & 6 others, Nordenskjöld, A., Boyd, S., Herrmann, B. G., Nöthen, M. M., Ludwig, M. & Reutter, H., 2014, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 100, 6, p. 512-517 6 p.

Research output: Contribution to journalArticle

11 Scopus citations

Clinical and genetic characterization of frontorhiny: Report of 3 novel cases and discussion of the surgical management

Pham, N. S., Rafii, A., Liu, J., Boyd, S. & Tollefson, T. T., Nov 2011, In : Archives of Facial Plastic Surgery. 13, 6, p. 415-420 6 p.

Research output: Contribution to journalArticle

6 Scopus citations

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

Concordance analyses of twins with bladder exstrophy-epispadias complex suggest genetic etiology [3]

Reutter, H., Qi, L., Gearhart, J. P., Boemers, T., Ebert, A. K., Rösch, W., Ludwig, M. & Boyd, S., Nov 15 2007, In : American Journal of Medical Genetics, Part A. 143, 22, p. 2751-2756 6 p.

Research output: Contribution to journalArticle

40 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

Corrigendum to “BBS9 gene in nonsyndromic craniosynostosis: Role of the primary cilium in the aberrant ossification of the suture osteogenic niche” [Bone 112 (July 2018) 58–70] (Bone (2018) 112 (58–70), (S8756328218301595), (10.1016/j.bone.2018.04.013))

Barba, M., Di Pietro, L., Massimi, L., Geloso, M. C., Frassanito, P., Caldarelli, M., Michetti, F., Della Longa, S., Romitti, P. A., Di Rocco, C., Arcovito, A., Parolini, O., Tamburrini, G., Bernardini, C., Boyd, S. & Lattanzi, W., Apr 1 2019, In : Bone. 121, 1 p.

Research output: Contribution to journalComment/debate

Cranio-lenticulo-sutural dysplasia associated with defects in collagen secretion

Boyd, S., Kim, S. D., Hata, A., Haldeman-Englert, C., Zackai, E., Naydenov, C., Hamamoto, S., Schekman, R. & Kim, J., Aug 2011, In : Clinical Genetics. 80, 2, p. 169-176 8 p.

Research output: Contribution to journalArticle

38 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

Differential growth factor adsorption to calvarial osteoblast-secreted extracellular matrices instructs osteoblastic behavior

Bhat, A., Boyd, S., Senders, C. W. & Leach, J. K., Oct 5 2011, In : PLoS One. 6, 10, e25990.

Research output: Contribution to journalArticle

15 Scopus citations

Epidemiological Survey of 214 Families With Bladder Exstrophy-Epispadias Complex

Gambhir, L., Höller, T., Müller, M., Schott, G., Vogt, H., Detlefsen, B., Ebert, A. K., Fisch, M., Beaudoin, S., Stein, R., Boyd, S., Gearhart, J. P., Rösch, W., Utsch, B., Boemers, T. M., Reutter, H. & Ludwig, M., Apr 2008, In : Journal of Urology. 179, 4, p. 1539-1543 5 p.

Research output: Contribution to journalArticle

45 Scopus citations

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

Familial incidence and associated symptoms in a population of individuals with nonsyndromic craniosynostosis

Greenwood, J., Flodman, P., Osann, K., Boyd, S. & Kimonis, V., 2014, In : Genetics in Medicine. 16, 4, p. 302-310 9 p.

Research output: Contribution to journalArticle

33 Scopus citations

Gain-of-function variants and overexpression of RUNX2 in patients with nonsyndromic midline craniosynostosis

Cuellar, A., Bala, K., Di Pietro, L., Barba, M., Yagnik, G., Liu, J. L., Stevens, C., Hur, D. J., Ingersoll, R. G., Justice, C. M., Drissi, H., Kim, J., Lattanzi, W. & Boyadjiev, S. A., Aug 2020, In : Bone. 137, 115395.

Research output: Contribution to journalArticle

Generalized physicochemical model for carrier ampholyte isoelectric focusing

Naydenov, C., Kirazov, E., Boyd, S. & Mitev, V., 2012, In : Comptes Rendus de L'Academie Bulgare des Sciences. 65, 6, p. 791-798 8 p.

Research output: Contribution to journalArticle

Genetic advances in craniosynostosis

Lattanzi, W., Barba, M., Di Pietro, L. & Boyd, S., May 1 2017, In : American Journal of Medical Genetics, Part A. 173, 5, p. 1406-1429 24 p.

Research output: Contribution to journalArticle

33 Scopus citations

Genetic analysis of non-syndromic craniosynostosis

Boyd, S., 2007, In : Orthodontics and Craniofacial Research. 10, 3, p. 129-137 9 p.

Research output: Contribution to journalArticle

78 Scopus citations

Genetic predisposition to natural rubber latex allergy differs between health care workers and high-risk patients

Monitto, C. L., Hamilton, R. G., Levey, E., Jedlicka, A. E., Dziedzic, A., Gearhart, J. P., Boyd, S. & Brown, R. H., May 2010, In : Anesthesia and Analgesia. 110, 5, p. 1310-1317 8 p.

Research output: Contribution to journalArticle

9 Scopus citations

Genetics of Craniosynostosis

Kimonis, V., Gold, J. A., Hoffman, T. L., Panchal, J. & Boyd, S., Sep 2007, In : Seminars in Pediatric Neurology. 14, 3, p. 150-161 12 p.

Research output: Contribution to journalArticle

98 Scopus citations

Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder

Reutter, H., Draaken, M., Pennimpede, T., Wittler, L., Brockschmidt, F. F., Ebert, A. K., Bartels, E., Rösch, W., Boemers, T. M., Hirsch, K., Schmiedeke, E., Meesters, C., Becker, T., Stein, R., Utsch, B., Mangold, E., Nordenskjöld, A., Barker, G., Kockum, C. C. L., Zwink, N. & 13 others, Holmdahl, G., Läckgren, G., Jenetzky, E., Feitz, W. F. J., Marcelis, C., Wijers, C. H. W., Van Rooij, I. A. L. M., Gearhart, J. P., Herrmann, B. G., Ludwig, M., Boyd, S., Nöthen, M. M. & Mattheisen, M., Oct 15 2014, In : Human Molecular Genetics. 23, 20, p. 5536-5544 9 p.

Research output: Contribution to journalArticle

10 Scopus citations

Genome-wide expression profiling of urinary bladder implicates desmosomai and cytoskeletal dysregulation in the bladder exstrophy-epispadias complex

Qi, L., Chen, K., Hur, D. J., Yagnik, G., Lakshmanan, Y., Kotch, L. E., Ashrafi, G. H., Martinez-Murillo, F., Kowalski, J., Naydenov, C., Wittler, L., Gearhart, J. P., Draaken, M., Reutter, H., Ludwig, M. & Boyd, S., Jun 2011, In : International Journal of Molecular Medicine. 27, 6, p. 755-765 11 p.

Research output: Contribution to journalArticle

15 Scopus citations

Genome-wide linkage scan for bladder exstrophy-epispadias complex

Ludwig, M., Rüschendorf, F., Saar, K., Hübner, N., Siekmann, L., Boyd, S. & Reutter, H., Feb 2009, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 85, 2, p. 174-178 5 p.

Research output: Contribution to journalArticle

16 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

GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype

Paznekas, W. A., Karczeski, B., Vermeer, S., Lowry, R. B., Delatycki, M., Laurence, F., Koivisto, P. A., Van Maldergem, L., Boyd, S., Bodurtha, J. N. & Jabs, E. W., May 2009, In : Human Mutation. 30, 5, p. 724-733 10 p.

Research output: Contribution to journalArticle

177 Scopus citations

Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice

Vissers, L. E. L. M., Cox, T. C., Maga, A. M., Short, K. M., Wiradjaja, F., Janssen, I. M., Jehee, F., Bertola, D., Liu, J., Yagnik, G., Sekiguchi, K., Kiyozumi, D., van Bokhoven, H., Marcelis, C., Cunningham, M. L., Anderson, P. J., Boyd, S., Passos-Bueno, M. R., Veltman, J. A., Smyth, I. & 2 others, Buckley, M. F. & Roscioli, T., Sep 2011, In : PLoS Genetics. 7, 9, e1002278.

Research output: Contribution to journalArticle

49 Scopus citations

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

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

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

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

ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development

Zhang, R., Knapp, M., Suzuki, K., Kajioka, D., Schmidt, J. M., Winkler, J., Yilmaz, Ö., Pleschka, M., Cao, J., Kockum, C. C., Barker, G., Holmdahl, G., Beaman, G., Keene, D., Woolf, A. S., Cervellione, R. M., Cheng, W., Wilkins, S., Gearhart, J. P., Sirchia, F. & 22 others, Di Grazia, M., Ebert, A. K., Rösch, W., Ellinger, J., Jenetzky, E., Zwink, N., Feitz, W. F., Marcelis, C., Schumacher, J., Martinón-Torres, F., Hibberd, M. L., Khor, C. C., Heilmann-Heimbach, S., Barth, S., Boyd, S., Brusco, A., Ludwig, M., Newman, W., Nordenskjöld, A., Yamada, G., Odermatt, B. & Reutter, H., Feb 8 2017, In : Scientific Reports. 7, 42170.

Research output: Contribution to journalArticle

12 Scopus citations

Keutel syndrome: Report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis

Weaver, K. N., El Hallek, M., Hopkin, R. J., Sund, K. L., Henrickson, M., del Gaudio, D., Yuksel, A., Acar, G. O., Bober, M. B., Kim, J. & Boyd, S., 2014, In : American Journal of Medical Genetics, Part A. 164, 4, p. 1062-1068 7 p.

Research output: Contribution to journalArticle

15 Scopus citations

Leucine-rich repeat, immunoglobulin-like and transmembrane domain 3 (LRIT3) is a modulator of FGFR1

Kim, S. D., Liu, J. L., Roscioli, T., Buckley, M. F., Yagnik, G., Boyd, S. & Kim, J., May 21 2012, In : FEBS Letters. 586, 10, p. 1516-1521 6 p.

Research output: Contribution to journalArticle

8 Scopus citations

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