• 3052 Citations
  • 30 h-Index
1994 …2020

Research output per year

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Research Output

  • 3052 Citations
  • 30 h-Index
  • 80 Article
  • 1 Comment/debate
  • 1 Review article
2020

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

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

SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

Calpena, E., Cuellar, A., Bala, K., Swagemakers, S. M. A., Koelling, N., McGowan, S. J., Phipps, J. M., Balasubramanian, M., Cunningham, M. L., Douzgou, S., Lattanzi, W., Morton, J. E. V., Shears, D., Weber, A., Wilson, L. C., Lord, H., Lester, T., Johnson, D., Wall, S. A., Twigg, S. R. F. & 3 others, Mathijssen, I. M. J., Boyadjiev, S. A. & Wilkie, A. O. M., Jan 1 2020, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

Open Access
2019

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

Pegunigalsidase alfa, a novel PEGylated enzyme replacement therapy for Fabry disease, provides sustained plasma concentrations and favorable pharmacodynamics: A 1-year Phase 1/2 clinical trial

Schiffmann, R., Goker-Alpan, O., Holida, M., Giraldo, P., Barisoni, L., Colvin, R. B., Jennette, C. J., Maegawa, G., Boyd, S., Gonzalez, D., Nicholls, K., Tuffaha, A., Atta, M. G., Rup, B., Charney, M. R., Paz, A., Szlaifer, M., Alon, S., Brill-Almon, E., Chertkoff, R. & 1 others, Hughes, D., Jan 1 2019, In : Journal of Inherited Metabolic Disease.

Research output: Contribution to journalArticle

Open Access
8 Scopus citations
2018

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

10 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
2017

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

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

32 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

11 Scopus citations
2016

Muenke syndrome: An international multicenter natural history study

Kruszka, P., Addissie, Y. A., Yarnell, C. M. P., Hadley, D. W., Guillen Sacoto, M. J., Platte, P., Paelecke, Y., Collmann, H., Snow, N., Schweitzer, T., Boyd, S., Aravidis, C., Hall, S. E., Mulliken, J. B., Roscioli, T. & Muenke, M., Apr 1 2016, In : American Journal of Medical Genetics, Part A. 170, 4, p. 918-929 12 p.

Research output: Contribution to journalArticle

16 Scopus citations
2015

Molecular genetics craniosynostosis

Boyd, S., Yaneva, N., Kaneva, R. & Simeonov, E., 2015, In : Pediatriya. 55, 4, p. 7-12 6 p.

Research output: Contribution to journalReview article

Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta

Garbes, L., Kim, K., Rieß, A., Hoyer-Kuhn, H., Beleggia, F., Bevot, A., Kim, M. J., Huh, Y. H., Kweon, H. S., Savarirayan, R., Amor, D., Kakadia, P. M., Lindig, T., Kagan, K. O., Becker, J., Boyd, S., Wollnik, B., Semler, O., Bohlander, S. K., Kim, J. & 1 others, Netzer, C., Mar 5 2015, In : American Journal of Human Genetics. 96, 3, p. 432-439 8 p.

Research output: Contribution to journalArticle

72 Scopus citations
2014

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

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

32 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

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

MAPK/ERK signaling pathway analysis in primary osteoblasts from patients with nonsyndromic sagittal craniosynostosis

Kim, S. D., Yagnik, G., Cunningham, M. L., Kim, J. & Boyd, S., Jan 2014, In : Cleft Palate-Craniofacial Journal. 51, 1, p. 115-119 5 p.

Research output: Contribution to journalArticle

4 Scopus citations

Quantification of facial skeletal shape variation in fibroblast growth factor receptor-related craniosynostosis syndromes

Heuzé, Y., Martínez-Abadías, N., Stella, J. M., Arnaud, E., Collet, C., García Fructuoso, G., Alamar, M., Lo, L. J., Boyd, S., Di Rocco, F. & Richtsmeier, J. T., 2014, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 100, 4, p. 250-259 10 p.

Research output: Contribution to journalArticle

13 Scopus citations

Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency

Valayannopoulos, V., Malinova, V., Honzík, T., Balwani, M., Breen, C., Deegan, P. B., Enns, G. M., Jones, S. A., Kane, J. P., Stock, E. O., Tripuraneni, R., Eckert, S., Schneider, E., Hamilton, G., Middleton, M. S., Sirlin, C., Kessler, B., Bourdon, C., Boyd, S., Sharma, R. & 3 others, Twelves, C., Whitley, C. B. & Quinn, A. G., Nov 1 2014, In : Journal of Hepatology. 61, 5, p. 1135-1142 8 p.

Research output: Contribution to journalArticle

55 Scopus citations
2013

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

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities

Wiszniewski, W., Hunter, J. V., Hanchard, N. A., Willer, J. R., Shaw, C., Tian, Q., Illner, A., Wang, X., Cheung, S. W., Patel, A., Campbell, I. M., Gelowani, V., Hixson, P., Ester, A. R., Azamian, M. S., Potocki, L., Zapata, G., Hernandez, P. P., Ramocki, M. B., Santos-Cortez, R. L. P. & 46 others, Wang, G., York, M. K., Justice, M. J., Chu, Z. D., Bader, P. I., Omo-Griffith, L., Madduri, N. S., Scharer, G., Crawford, H. P., Yanatatsaneejit, P., Eifert, A., Kerr, J., Bacino, C. A., Franklin, A. I. A., Goin-Kochel, R. P., Simpson, G., Immken, L., Haque, M. E., Stosic, M., Williams, M. D., Morgan, T. M., Pruthi, S., Omary, R., Boyd, S., Win, K. K., Thida, A., Hurles, M., Hibberd, M. L., Khor, C. C., Van Vinh Chau, N., Gallagher, T. E., Mutirangura, A., Stankiewicz, P., Beaudet, A. L., Maletic-Savatic, M., Rosenfeld, J. A., Shaffer, L. G., Davis, E. E., Belmont, J. W., Dunstan, S., Simmons, C. P., Bonnen, P. E., Leal, S. M., Katsanis, N., Lupski, J. R. & Lalani, S. R., Aug 8 2013, In : American Journal of Human Genetics. 93, 2, p. 197-210 14 p.

Research output: Contribution to journalArticle

24 Scopus citations
2012

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

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

13 Scopus citations

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

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

Nafion®-separated electrode solutions in isoelectric focusing

Naydenov, C. L., Kirazov, E. P., Boyd, S., Kirazov, L. P., Lozanov, V. S. & Mitev, V. I., Jan 2012, In : Chromatographia. 75, 1-2, p. 33-40 8 p.

Research output: Contribution to journalArticle

2 Scopus citations

OTX2 mutations contribute to the otocephaly-dysgnathia complex

Chassaing, N., Sorrentino, S., Davis, E. E., Martin-Coignard, D., Iacovelli, A., Paznekas, W., Webb, B. D., Faye-Petersen, O., Encha-Razavi, F., Lequeux, L., Vigouroux, A., Yesilyurt, A., Boyd, S., Kayserili, H., Loget, P., Carles, D., Sergi, C., Puvabanditsin, S., Chen, C. P., Etchevers, H. C. & 4 others, Katsanis, N., Mercer, C. L., Calvas, P. & Jabs, E. W., Jun 2012, In : Journal of Medical Genetics. 49, 6, p. 373-379 7 p.

Research output: Contribution to journalArticle

36 Scopus citations

SEC23-SEC31 the interface plays critical role for export of procollagen from the endoplasmic reticulum

Kim, S. D., Pahuja, K. B., Ravazzola, M., Yoon, J., Boyd, S., Hammamoto, S., Schekman, R., Orci, L. & Kim, J., Mar 23 2012, In : Journal of Biological Chemistry. 287, 13, p. 10134-10144 11 p.

Research output: Contribution to journalArticle

29 Scopus citations

Study on the selective restriction of mass transport during isoelectric focusing

Naydenov, C., Kirazov, E., Boyd, S. & Mitev, V., 2012, In : Comptes Rendus de L'Academie Bulgare des Sciences. 65, 7, p. 961-968 8 p.

Research output: Contribution to journalArticle

The SEC23-SEC31 interface plays critical role for export of procollagen from the endoplasmic reticulum (Journal of Biological Chemistry (2012) 287 (10134-10144))

Kim, S. D., Pahuja, K. B., Ravazzola, M., Yoon, J., Boyadjiev, S. A., Hamamoto, S., Schekman, R., Orci, L. & Kim, J., Sep 21 2012, In : Journal of Biological Chemistry. 287, 39, p. 32860 1 p.

Research output: Contribution to journalArticle

1 Scopus citations

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., Boyd, S., Lo, L. J. & Richtsmeier, J. T., Mar 2012, In : Journal of Experimental Zoology Part B: Molecular and Developmental Evolution. 318, 2, p. 109-122 14 p.

Research output: Contribution to journalArticle

29 Scopus citations
2011

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

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

37 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

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

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

48 Scopus citations

Phenotype severity in the bladder exstrophy-epispadias complex: Analysis of genetic and nongenetic contributing factors in 441 families from North America and Europe

Reutter, H., Boyd, S., Gambhir, L., Ebert, A. K., Rösch, W. H., Stein, R., Schröder, A., Boemers, T. M., Bartels, E., Vogt, H., Utsch, B., Müller, M., Detlefsen, B., Zwink, N., Rogenhofer, S., Gobet, R., Beckers, G. M. A., Bökenkamp, A., Kajbafzadeh, A. M., Jaureguizar, E. & 6 others, Draaken, M., Lakshmanan, Y., Gearhart, J. P., Ludwig, M., Nöthen, M. M. & Jenetzky, E., Nov 2011, In : Journal of Pediatrics. 159, 5

Research output: Contribution to journalArticle

17 Scopus citations
2010

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

New insights into the relationship between suture closure and craniofacial dysmorphology in sagittal nonsyndromic craniosynostosis

Heuzé, Y., Boyd, S., Marsh, J. L., Kane, A. A., Cherkez, E., Boggan, J. E. & Richtsmeier, J. T., Aug 2010, In : Journal of Anatomy. 217, 2, p. 85-96 12 p.

Research output: Contribution to journalArticle

31 Scopus citations

p63 (TP73L) a key player in embryonic urogential development with significant dysregulation in human bladder exstrophy tissue

Ching, B. J., Wittler, L., Proske, J., Yagnik, G., Qi, L., Draaken, M., Reutter, H., Gearhart, J. P., Ludwig, M. & Boyd, S., Dec 2010, In : International Journal of Molecular Medicine. 26, 6, p. 861-867 7 p.

Research output: Contribution to journalArticle

12 Scopus citations
2009

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

30 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

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

175 Scopus citations
2008

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
2007

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

39 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

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

96 Scopus citations

The Genetic Basis of a Craniofacial Disease Provides Insight into COPII Coat Assembly

Fromme, J. C., Ravazzola, M., Hamamoto, S., Al-Balwi, M., Eyaid, W., Boyd, S., Cosson, P., Schekman, R. & Orci, L., Nov 6 2007, In : Developmental Cell. 13, 5, p. 623-634 12 p.

Research output: Contribution to journalArticle

127 Scopus citations