• 3609 Citations
  • 22 h-Index
1984 …2019

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22q13.3 Deletion syndrome: Clinical and molecular analysis using array CGH

Dhar, S. U., Del Gaudio, D., German, J. R., Peters, S. U., Ou, Z., Bader, P. I., Berg, J. S., Blazo, M., Brown, C. W., Graham, B. H., Grebe, T. A., Lalani, S., Irons, M., Sparagana, S., Williams, M., Phillips, J. A., Beaudet, A. L., Stankiewicz, P., Patel, A., Cheung, S. W. & 1 others, Sahoo, T., Mar 1 2010, In : American Journal of Medical Genetics, Part A. 152, 3, p. 573-581 9 p.

Research output: Contribution to journalArticle

87 Scopus citations

Abnormal sudomotor function in the hypomelanotic macules of tuberous sclerosis complex

Chudnow, R. S., Wolfe, G. I., Sparagana, S. P., Delgado, M. R., Batchelor, L. & Roach, E. S., Jan 1 2000, In : Journal of child neurology. 15, 8, p. 529-532 4 p.

Research output: Contribution to journalArticle

8 Scopus citations

A wireless system for monitoring transcranial motor evoked potentials

Farajidavar, A., Seifert, J. L., Bell, J. E. S., Seo, Y. S., Delgado, M. R., Sparagana, S., Romero, M. I. & Chiao, J. C., Jan 1 2011, In : Annals of Biomedical Engineering. 39, 1, p. 517-523 7 p.

Research output: Contribution to journalArticle

6 Scopus citations

Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy

Peng, Y., Shinde, D. N., Valencia, C. A., Mo, J. S., Rosenfeld, J., Cho, M. T., Chamberlin, A., Li, Z., Liu, J., Gui, B., Brockhage, R., Basinger, A., Alvarez-Leon, B., Heydemann, P., Magoulas, P. L., Lewis, A. M., Scaglia, F., Gril, S., Chong, S. C., Bower, M. & 22 others, Monaghan, K. G., Willaert, R., Plona, M. R., Dineen, R., Milan, F., Hoganson, G., Powis, Z., Helbig, K. L., Keller-Ramey, J., Harris, B., Anderson, L. C., Green, T., Sukoff Rizzo, S. J., Kaylor, J., Chen, J., Guan, M. X., Sellars, E., Sparagana, S. P., Gibson, J. B., Reinholdt, L. G., Tang, S. & Huang, T., Dec 1 2017, In : Human Molecular Genetics. 26, 24, p. 4937-4950 14 p.

Research output: Contribution to journalArticle

7 Scopus citations

Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication

Filges, I., Sparagana, S., Sargent, M., Selby, K., Schlade-Bartusiak, K., Lueder, G. T., Robichaux-Viehoever, A., Schlaggar, B. L., Shimony, J. S. & Shinawi, M., Aug 2014, In : American Journal of Medical Genetics, Part A. 164, 8, p. 2003-2012 10 p.

Research output: Contribution to journalArticle

8 Scopus citations
71 Scopus citations

Diagnosis of tuberous sclerosis complex

Roach, E. S. & Sparagana, S. P., Sep 2004, In : Journal of child neurology. 19, 9, p. 643-649 7 p.

Research output: Contribution to journalArticle

220 Scopus citations

Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene

Furukawa, Y., Guttman, M., Sparagana, S. P., Trugman, J. M., Hyland, K., Wyatt, P., Lang, A. E., Rouleau, G. A., Shimadzu, M. & Kish, S. J., Apr 19 2000, In : Annals of Neurology. 47, 4, p. 517-520 4 p.

Research output: Contribution to journalArticle

53 Scopus citations

Early diagnosis of subependymal giant cell astocytoma in patients with tuberous sclerosis

Torres, O. A., Roach, E. S., Delgado, M. R., Sparagana, S. P., Sheffield, E., Swift, D. & Bruce, D., Apr 1998, In : Journal of child neurology. 13, 4, p. 173-177 5 p.

Research output: Contribution to journalArticle

78 Scopus citations

Effect of everolimus on skin lesions in patients treated for subependymal giant cell astrocytoma and renal angiomyolipoma: Final 4-year results from the randomized EXIST-1 and EXIST-2 studies

Franz, D. N., Budde, K., Kingswood, J. C., Belousova, E., Sparagana, S., de Vries, P. J., Berkowitz, N., Ridolfi, A. & Bissler, J. J., Jan 1 2018, (Accepted/In press) In : Journal of the European Academy of Dermatology and Venereology.

Research output: Contribution to journalArticle

6 Scopus citations

Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): A multicentre, randomised, placebo-controlled phase 3 trial

Franz, D. N., Belousova, E., Sparagana, S., Bebin, E. M., Frost, M., Kuperman, R., Witt, O., Kohrman, M. H., Flamini, J. R., Wu, J. Y., Curatolo, P., De Vries, P. J., Whittemore, V. H., Thiele, E. A., Ford, J. P., Shah, G., Cauwel, H., Lebwohl, D., Sahmoud, T. & Jozwiak, S., Jan 2013, In : The Lancet. 381, 9861, p. 125-132 8 p.

Research output: Contribution to journalArticle

450 Scopus citations

Efficacy and safety of topical rapamycin in patients with facial angiofibromas secondary to tuberous sclerosis complex the TREATMENT randomized clinical trial

TREATMENT Trial Collaborators, Jul 1 2018, In : JAMA Dermatology. 154, 7, p. 773-780 8 p.

Research output: Contribution to journalArticle

21 Scopus citations

Electroencephalography in holoprosencephaly: Findings in children without epilepsy

Hahn, J. S., Delgado, M. R., Clegg, N. J., Sparagana, S. P., Gerace, K. L., Barkovich, A. J. & Olson, D. M., Oct 1 2003, In : Clinical Neurophysiology. 114, 10, p. 1908-1917 10 p.

Research output: Contribution to journalArticle

11 Scopus citations

Electromagnetic interference in intraoperative monitoring of motor evoked potentials and a wireless solution

Farajidavar, A., Seifert, J. L., Delgado, M. R., Sparagana, S., Romero-Ortega, M. I. & Chiao, J. C., Feb 1 2016, In : Medical Engineering and Physics. 38, 2, p. 87-96 10 p.

Research output: Contribution to journalArticle

2 Scopus citations

Epilepsy treatment patterns among patients with tuberous sclerosis complex

Song, J., Swallow, E., Said, Q., Peeples, M., Meiselbach, M., Signorovitch, J., Kohrman, M., Korf, B., Krueger, D., Wong, M. & Sparagana, S., Aug 15 2018, In : Journal of the Neurological Sciences. 391, p. 104-108 5 p.

Research output: Contribution to journalArticle

2 Scopus citations

Everolimus for subependymal giant cell astrocytoma in patients with tuberous sclerosis complex: 2-year open-label extension of the randomised EXIST-1 study

Franz, D. N., Belousova, E., Sparagana, S., Bebin, E. M., Frost, M., Kuperman, R., Witt, O., Kohrman, M. H., Flamini, J. R., Wu, J. Y., Curatolo, P., de Vries, P. J., Berkowitz, N., Anak, O., Niolat, J. & Jozwiak, S., Jan 1 2014, In : The Lancet Oncology. 15, 13, p. 1513-1520 8 p.

Research output: Contribution to journalArticle

104 Scopus citations

Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations

Ou, Z., Jarmuz, M., Sparagana, S. P., Michaud, J., Décarie, J. C., Yatsenko, S. A., Nowakowska, B., Furman, P., Shaw, C. A., Shaffer, L. G., Lupski, J. R., Chinault, A. C., Cheung, S. W. & Stankiewicz, P., Sep 1 2006, In : Human genetics. 120, 2, p. 227-237 11 p.

Research output: Contribution to journalArticle

6 Scopus citations

Felbamate urolithiasis

Sparagana, S. P., Strand, W. R. & Adams, R. C., May 29 2001, In : Epilepsia. 42, 5, p. 682-685 4 p.

Research output: Contribution to journalArticle

22 Scopus citations

Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex

Hoogeveen-Westerveld, M., Ekong, R., Povey, S., Karbassi, I., Batish, S. D., den Dunnen, J. T., van Eeghen, A., Thiele, E., Mayer, K., Dies, K., Wen, L., Thompson, C., Sparagana, S. P., Davies, P., Aalfs, C., van den Ouweland, A., Halley, D. & Nellist, M., Mar 1 2012, In : Human mutation. 33, 3, p. 476-479 4 p.

Research output: Contribution to journalArticle

30 Scopus citations

Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex

Hoogeveen-Westerveld, M., Ekong, R., Povey, S., Mayer, K., Lannoy, N., Elmslie, F., Bebin, M., Dies, K., Thompson, C., Sparagana, S. P., Davies, P., van den Ouweland, A., Halley, D. & Nellist, M., Jan 2013, In : Human mutation. 34, 1, p. 167-175 9 p.

Research output: Contribution to journalArticle

33 Scopus citations

Genomic analyses of patients with unexplained early-onset scoliosis

Gao, X., Gotway, G., Rathjen, K., Johnston, C., Sparagana, S. & Wise, C. A., Sep 2014, In : Spine Deformity. 2, 5, p. 324-332 9 p.

Research output: Contribution to journalArticle

5 Scopus citations

Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States

Au, K. S., Williams, A. T., Roach, E. S., Batchelor, L., Sparagana, S. P., Delgado, M. R., Wheless, J. W., Baumgartner, J. E., Roa, B. B., Wilson, C. M., Smith-Knuppel, T. K., Cheung, M. Y. C., Whittemore, V. H., King, T. M. & Northrup, H., Feb 1 2007, In : Genetics in Medicine. 9, 2, p. 88-100 13 p.

Research output: Contribution to journalArticle

227 Scopus citations

Juvenile hormone acid methyltransferase activity in imaginal discs of Manduca sexta prepupae

Sparagana, S. P., Bhaskaran, G. & Barrera, P., 1985, In : Archives of Insect Biochemistry and Physiology. 2, 2, p. 191-202 12 p.

Research output: Contribution to journalArticle

52 Scopus citations

Juvenile hormone production, juvenile hormone esterase, and juvenile hormone acid methyltransferase in corpora allata of Manduca sexta

Sparagana, S. P., Bhaskaran, G., Dahm, K. H. & Riddle, V., May 1984, In : Journal of Experimental Zoology. 230, 2, p. 309-313 5 p.

Research output: Contribution to journalArticle

38 Scopus citations

Long-term outcome of transcatheter embolization of renal angiomyolipomas due to tuberous sclerosis complex

Ewalt, D. H., Diamond, N., Rees, C., Sparagana, S. P., Delgado, M., Batchelor, L. & Roach, E. S., Nov 2005, In : Journal of Urology. 174, 5, p. 1764-1766 3 p.

Research output: Contribution to journalArticle

86 Scopus citations

Long-term use of everolimus in patients with tuberous sclerosis complex: Final results from the EXIST-1 study

Franz, D. N., Belousova, E., Sparagana, S., Bebin, E. M., Frost, M. D., Kuperman, R., Witt, O., Kohrman, M. H., Flamini, J. R., Wu, J. Y., Curatolo, P., De Vries, P. J., Berkowitz, N., Niolat, J. & Jóźwiak, S., Jun 1 2016, In : PLoS One. 11, 6, e0158476.

Research output: Contribution to journalArticle

59 Scopus citations

Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment

Nagamani, S. C. S., Zhang, F., Shchelochkov, O. A., Bi, W., Ou, Z., Scaglia, F., Probst, F. J., Shinawi, M., Eng, C., Hunter, J. V., Sparagana, S., Lagoe, E., Fong, C. T., Pearson, M., Doco-Fenzy, M., Landais, E., Mozelle, M., Chinault, A. C., Patel, A., Bacino, C. A. & 5 others, Sahoo, T., Kang, S. H., Cheung, S. W., Lupski, J. R. & Stankiewicz, P., Dec 1 2009, In : Journal of medical genetics. 46, 12, p. 825-833 9 p.

Research output: Contribution to journalArticle

77 Scopus citations

Mutation update for the SATB2 gene

Zarate, Y. A., Bosanko, K. A., Caffrey, A. R., Bernstein, J. A., Martin, D. M., Williams, M. S., Berry-Kravis, E. M., Mark, P. R., Manning, M. A., Bhambhani, V., Vargas, M., Seeley, A. H., Estrada-Veras, J. I., van Dooren, M. F., Schwab, M., Vanderver, A., Melis, D., Alsadah, A., Sadler, L., Van Esch, H. & 28 others, Callewaert, B., Oostra, A., Maclean, J., Dentici, M. L., Orlando, V., Lipson, M., Sparagana, S. P., Maarup, T. J., Alsters, S. I. M., Brautbar, A., Kovitch, E., Naidu, S., Lees, M., Smith, D. M., Turner, L., Raggio, V., Spangenberg, L., Garcia-Miñaúr, S., Roeder, E. R., Littlejohn, R. O., Grange, D., Pfotenhauer, J., Jones, M. C., Balasubramanian, M., Martinez-Monseny, A., Blok, L. S., Gavrilova, R. & Fish, J. L., Jan 1 2019, In : Human mutation. 40, 8, p. 1013-1029 17 p.

Research output: Contribution to journalArticle

3 Scopus citations

Optic Nerve Tumor in Tuberous Sclerosis Complex is not Responsive to Sirolimus

Sparagana, S. P., Wilkes, D. C., Thompson, C. E. & Bowers, D. C., Jun 1 2010, In : Pediatric Neurology. 42, 6, p. 443-446 4 p.

Research output: Contribution to journalArticle

8 Scopus citations

Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa-responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiency

Hyland, K., Nygaard, T. G., Trugman, J. M., Swoboda, K. J., Arnold, L. A. & Sparagana, S. P., Jun 15 1999, In : Journal of Inherited Metabolic Disease. 22, 3, p. 213-215 3 p.

Research output: Contribution to journalArticle

17 Scopus citations

Patterns of Disease Monitoring and Treatment Among Patients With Tuberous Sclerosis Complex-related Angiomyolipomas

Swallow, E., King, S., Song, J., Peeples, M., Signorovitch, J. E., Liu, Z., Prestifilippo, J., Frost, M., Kohrman, M., Korf, B., Krueger, D. & Sparagana, S., Nov 29 2016, (Accepted/In press) In : Urology.

Research output: Contribution to journalArticle

1 Scopus citations
Open Access
8 Scopus citations

Pooled analysis of menstrual irregularities from three major clinical studies evaluating everolimus for the treatment of tuberous sclerosis complex

Sparagana, S., Franz, D. N., Krueger, D. A., Bissler, J. J., Berkowitz, N., Burock, K. & Kingswood, J. C., Oct 1 2017, In : PLoS One. 12, 10, e0186235.

Research output: Contribution to journalArticle

3 Scopus citations

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

Shinawi, M., Liu, P., Kang, S. H. L., Shen, J., Belmont, J. W., Scott, D. A., Probst, F. J., Craigen, W. J., Graham, B. H., Pursley, A., Clark, G., Lee, J., Proud, M., Stocco, A., Rodriguez, D. L., Kozel, B. A., Sparagana, S., Roeder, E. R., McGrew, S. G., Kurczynski, T. W. & 8 others, Allison, L. J., Amato, S., Savage, S., Patel, A., Stankiewicz, P., Beaudet, A. L., Cheung, S. W. & Lupski, J. R., May 1 2010, In : Journal of Medical Genetics. 47, 5, p. 332-341 10 p.

Research output: Contribution to journalArticle

302 Scopus citations

Renal lesion growth in children with tuberous sclerosis complex

Ewalt, D. H., Sheffield, E., Sparagana, S. P., Delgado, M. R. & Roach, E. S., Jul 1998, In : Journal of Urology. 160, 1, p. 141-145 5 p.

Research output: Contribution to journalArticle

218 Scopus citations

Seizure remission and antiepileptic drug discontinuation in children with tuberous sclerosis complex

Sparagana, S. P., Delgado, M. R., Batchelor, L. L. & Roach, E. S., Sep 1 2003, In : Archives of neurology. 60, 9, p. 1286-1289 4 p.

Research output: Contribution to journalArticle

39 Scopus citations
7 Scopus citations

Spinal cord monitoring with transcranial motor evoked potentials in patients with neural axis abnormalities undergoing spinal deformity surgery

Muchow, R. D., McClung, A., Rampy, P., Van Allen, E., Sparagana, S. & Sucato, D. J., May 2013, In : Spine Deformity. 1, 3, p. 205-210 6 p.

Research output: Contribution to journalArticle

2 Scopus citations

The effect of everolimus on renal angiomyolipoma in patients with tuberous sclerosis complex being treated for subependymal giant cell astrocytoma: Subgroup results from the randomized, placebo-controlled, Phase 3 trial EXIST-1

Kingswood, J. C., Jozwiak, S., Belousova, E. D., Frost, M. D., Kuperman, R. A., Bebin, E. M., Korf, B. R., Flamini, J. R., Kohrman, M. H., Sparagana, S. P., Wu, J. Y., Brechenmacher, T., Stein, K., Berkowitz, N., Bissler, J. J. & Franz, D. N., Jun 2014, In : Nephrology Dialysis Transplantation. 29, 6, p. 1203-1210 8 p.

Research output: Contribution to journalArticle

56 Scopus citations

The effect of everolimus on renal angiomyolipoma in pediatric patients with tuberous sclerosis being treated for subependymal giant cell astrocytoma

Bissler, J. J., Franz, D. N., Frost, M. D., Belousova, E., Bebin, E. M., Sparagana, S., Berkowitz, N., Ridolfi, A. & Kingswood, J. C., Oct 9 2017, (Accepted/In press) In : Pediatric Nephrology. p. 1-9 9 p.

Research output: Contribution to journalArticle

13 Scopus citations

TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex

Farach, L. S., Gibson, W. T., Sparagana, S. P., Nellist, M., Stumpel, C. T. R. M., Hietala, M., Friedman, E., Pearson, D. A., Creighton, S. P., Wagemans, A., Segel, R., Ben-Shalom, E., Au, K. S. & Northrup, H., Mar 1 2017, In : American Journal of Medical Genetics, Part A. 173, 3, p. 771-775 5 p.

Research output: Contribution to journalArticle

6 Scopus citations

Tuberous sclerosis complex diagnostic criteria update: Recommendations of the 2012 international tuberous sclerosis complex consensus conference

International Tuberous Sclerosis Complex Consensus Group, Oct 1 2013, In : Pediatric Neurology. 49, 4, p. 243-254 12 p.

Research output: Contribution to journalArticle

613 Scopus citations

Tuberous sclerosis complex surveillance and management: Recommendations of the 2012 international tuberous sclerosis complex consensus conference

International Tuberous Sclerosis Complex Consensus Group, Oct 1 2013, In : Pediatric Neurology. 49, 4, p. 255-265 11 p.

Research output: Contribution to journalArticle

388 Scopus citations

Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis

Ekong, R., Nellist, M., Hoogeveen-Westerveld, M., Wentink, M., Panzer, J., Sparagana, S., Emmett, W., Dawson, N. L., Malinge, M. C., Nabbout, R., Carbonara, C., Barberis, M., Padovan, S., Futema, M., Plagnol, V., Humphries, S. E., Migone, N. & Povey, S., Apr 1 2016, In : Human Mutation. 37, 4, p. 364-370 7 p.

Research output: Contribution to journalArticle

9 Scopus citations