• 3609 Citations
  • 22 h-Index
1984 …2019

Research output per year

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Research Output

1984

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
1985

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
1986
71 Scopus citations
1998

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

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
1999

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
2000

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

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

Tuberous sclerosis complex.

Sparagana, S. P. & Roach, E. S., Apr 2000, In : Current opinion in neurology. 13, 2, p. 115-119 5 p.

Research output: Contribution to journalReview article

108 Scopus citations
2001

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
2002

Holoprosencephaly: A review

Clegg, N. J., Gerace, K. L., Sparagana, S. P., Hahn, J. S. & Delgado, M. R., Jul 30 2002, In : Neurodiagnostic Journal. 42, 2, p. 59-72 14 p.

Research output: Contribution to journalReview article

9 Scopus citations
2003

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

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
2004

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
2005

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
2006

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

Microneurosurgery for neonatal brachial plexus palsy: The need for more information

Sparagana, S. P. & Ezaki, M., Jul 17 2006, In : Archives of neurology. 63, 7, p. 1033-1034 2 p.

Research output: Contribution to journalShort survey

3 Scopus citations

Spinal cord monitoring in patients with spinal deformity and neural axis abnormalities: A comparison with adolescent idiopathic scoliosis patients

El-Hawary, R., Sucato, D. J., Sparagana, S., McClung, A., Van Allen, E. & Rampy, P., Sep 1 2006, In : Spine. 31, 19, p. E698-E706

Research output: Contribution to journalReview article

17 Scopus citations
2007

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
2009

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

Tuberous Sclerosis

Sparagana, S. P. & Roach, E. S., Jan 1 2009, Encyclopedia of Neuroscience. Elsevier Ltd, p. 1195-1201 7 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Scopus citations
2010

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

Diagnostic Criteria for Tuberous Sclerosis Complex

Steve Roach, E. & Sparagana, S. P., Jun 9 2010, Tuberous Sclerosis Complex: Genes, Clinical Features and Therapeutics. Wiley-VCH, p. 21-25 5 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

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

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
2011

A miniature power-efficient bidirectional telemetric platform for in-vivo acquisition of electrophysiological signals

Farajidavar, A., McCorkle, P., Wiggins, T., Rao, S., Hagains, C., Peng, Y., Seifert, J., Romero, M., O'Grady, G., Cheng, L., Sparagana, S., Delgado, M., Tang, S. J., Abell, T. & Chiao, J. C., Sep 7 2011, 2011 IEEE MTT-S International Microwave Symposium, IMS 2011. 5972646. (IEEE MTT-S International Microwave Symposium Digest).

Research output: Chapter in Book/Report/Conference proceedingConference contribution

3 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
2012

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
7 Scopus citations
2013

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

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 Eeghen, A. M., Thiele, E. A., van den Ouweland, A., Halley, D. & Nellist, M., Feb 1 2013, In : Human mutation. 34, 2, p. 409-410 2 p.

Research output: Contribution to journalComment/debate

3 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

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

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
2014

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

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

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

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
2015

A wireless solution for intraoperative monitoring

Mays, J., Rampy, P., Sucato, D., Sparagana, S. & Chiao, J. C., Oct 21 2015, 2015 IEEE MTT-S International Microwave Workshop Series on RF and Wireless Technologies for Biomedical and Healthcare Applications, IMWS-BIO 2015 - Proceedings. Institute of Electrical and Electronics Engineers Inc., p. 244-245 2 p. 7303867

Research output: Chapter in Book/Report/Conference proceedingConference contribution

2016

A wireless system improves reliability of intraoperative monitoring recordings

Mays, J., Rampy, P., Sucato, D., Sparagana, S. & Chiao, J. C., Mar 31 2016, BioWireleSS 2016 - Proceedings, 2016 IEEE Topical Conference on Biomedical Wireless Technologies, Networks, and Sensing Systems. Institute of Electrical and Electronics Engineers Inc., p. 5-7 3 p. 7445546

Research output: Chapter in Book/Report/Conference proceedingConference contribution

2 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

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

MTORC1 inhibition for epilepsy in TSC

Sparagana, S. P., Sep 6 2016, In : Neurology. 87, 10, p. 974-975 2 p.

Research output: Contribution to journalEditorial

1 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

Report of clinical results in intraoperative wireless recording

Chiao, J. C., Sucato, D., Sparagana, S., Mays, J. & Rampy, P., Sep 27 2016, RFIT 2016 - 2016 IEEE International Symposium on Radio-Frequency Integration Technology. Institute of Electrical and Electronics Engineers Inc., 7578148

Research output: Chapter in Book/Report/Conference proceedingConference contribution

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
2017

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

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

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