| Year |
Citation |
Score |
| 2023 |
Alves CRR, Ha LL, Yaworski R, Sutton ER, Lazzarotto CR, Christie KA, Reilly A, Beauvais A, Doll RM, de la Cruz D, Maguire CA, Swoboda KJ, Tsai SQ, Kothary R, Kleinstiver BP. Optimization of base editors for the functional correction of SMN2 as a treatment for spinal muscular atrophy. Nature Biomedical Engineering. PMID 38057426 DOI: 10.1038/s41551-023-01132-z |
0.445 |
|
| 2023 |
Alves CRR, Ha LL, Yaworski R, Lazzarotto CR, Christie KA, Reilly A, Beauvais A, Doll RM, de la Cruz D, Maguire CA, Swoboda KJ, Tsai SQ, Kothary R, Kleinstiver BP. Base editing as a genetic treatment for spinal muscular atrophy. Biorxiv : the Preprint Server For Biology. PMID 36711797 DOI: 10.1101/2023.01.20.524978 |
0.397 |
|
| 2019 |
Walker MA, Lerman-Sagie T, Swoboda K, Lev D, Blumkin L. Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia. American Journal of Medical Genetics. Part A. PMID 31168944 DOI: 10.1002/ajmg.a.61196 |
0.429 |
|
| 2019 |
Ruhno C, McGovern VL, Avenarius MR, Snyder PJ, Prior TW, Nery FC, Muhtaseb A, Roggenbuck JS, Kissel JT, Sansone VA, Siranosian JJ, Johnstone AJ, Nwe PH, Zhang RZ, Swoboda KJ, et al. Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype. Human Genetics. PMID 30788592 DOI: 10.1007/S00439-019-01983-0 |
0.402 |
|
| 2018 |
Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, et al. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications. 9: 4619. PMID 30397230 DOI: 10.1038/S41467-018-06014-6 |
0.446 |
|
| 2018 |
Margraf RL, Durtschi J, Krock B, Newcomb TM, Bonkowsky JL, Voelkerding KV, Bayrak-Toydemir P, Lutz RE, Swoboda KJ. Novel Mutations Identified With Next-Generation Sequencing Expand the Spectrum of PLP1-Associated Leukodystrophy Clinical Phenotypes. Child Neurology Open. 5: 2329048X18789282. PMID 30046645 DOI: 10.1177/2329048X18789282 |
0.473 |
|
| 2018 |
Torres A, Brownstein CA, Tembulkar SK, Graber K, Genetti C, Kleiman RJ, Sweadner KJ, Mavros C, Liu KX, Smedemark-Margulies N, Maski K, Yang E, Agrawal PB, Shi J, Beggs AH, ... ... Swoboda KJ, et al. and compound heterozygous mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome. Molecular Genetics and Metabolism Reports. 16: 23-29. PMID 29922587 DOI: 10.1016/J.Ymgmr.2018.06.001 |
0.353 |
|
| 2017 |
Yano ST, Silver K, Young R, DeBrosse SD, Ebel RS, Swoboda KJ, Acsadi G. Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation. Pediatric Neurology. PMID 28647130 DOI: 10.1016/j.pediatrneurol.2017.04.022 |
0.454 |
|
| 2016 |
Bend EG, Si Y, Stevenson DA, Bayrak-Toydemir P, Newcomb TM, Jorgensen EM, Swoboda KJ. NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations. Neurology. PMID 27558372 DOI: 10.1212/WNL.0000000000003095 |
0.369 |
|
| 2015 |
Roosing S, Hofree M, Kim S, Scott E, Copeland B, Romani M, Silhavy JL, Rosti RO, Schroth J, Mazza T, Miccinilli E, Zaki MS, Swoboda KJ, Milisa-Drautz J, Dobyns WB, et al. Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. Elife. 4. PMID 26026149 DOI: 10.7554/Elife.06602 |
0.381 |
|
| 2015 |
Viollet L, Glusman G, Murphy KJ, Newcomb TM, Reyna SP, Sweney M, Nelson B, Andermann F, Andermann E, Acsadi G, Barbano RL, Brown C, Brunkow ME, Chugani HT, Cheyette SR, ... ... Swoboda KJ, et al. Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry. Plos One. 10: e0127045. PMID 25996915 DOI: 10.1371/Journal.Pone.0127045 |
0.505 |
|
| 2015 |
Findlay AR, Wein N, Kaminoh Y, Taylor LE, Dunn DM, Mendell JR, King WM, Pestronk A, Florence JM, Mathews KD, Finkel RS, Swoboda KJ, Howard MT, Day JW, McDonald C, et al. Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45. Annals of Neurology. 77: 668-74. PMID 25612243 DOI: 10.1002/Ana.24365 |
0.376 |
|
| 2015 |
Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A, Agosta G, ... ... Swoboda KJ, et al. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. American Journal of Medical Genetics. Part A. 167: 296-312. PMID 25604658 DOI: 10.1002/Ajmg.A.36887 |
0.454 |
|
| 2015 |
Sweney MT, Newcomb TM, Swoboda KJ. The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond. Pediatric Neurology. 52: 56-64. PMID 25447930 DOI: 10.1016/j.pediatrneurol.2014.09.015 |
0.395 |
|
| 2014 |
Hunt D, Leventer RJ, Simons C, Taft R, Swoboda KJ, Gawne-Cain M, Magee AC, Turnpenny PD, Baralle D. Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability. Journal of Medical Genetics. 51: 806-13. PMID 25342064 DOI: 10.1136/jmedgenet-2014-102798 |
0.351 |
|
| 2014 |
Butterfield RJ, Stevenson TJ, Xing L, Newcomb TM, Nelson B, Zeng W, Li X, Lu HM, Lu H, Farwell Gonzalez KD, Wei JP, Chao EC, Prior TW, Snyder PJ, Bonkowsky JL, ... Swoboda KJ, et al. Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis. Neurology. 82: 1322-30. PMID 24647030 DOI: 10.1212/Wnl.0000000000000305 |
0.319 |
|
| 2014 |
Swoboda KJ, Margraf RL, Carey JC, Zhou H, Newcomb TM, Coonrod E, Durtschi J, Mallempati K, Kumanovics A, Katz BE, Voelkerding KV, Opitz JM. A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload. American Journal of Medical Genetics. Part A. 164: 17-28. PMID 24259288 DOI: 10.1002/Ajmg.A.36189 |
0.431 |
|
| 2013 |
Rice GI, Forte GM, Szynkiewicz M, Chase DS, Aeby A, Abdel-Hamid MS, Ackroyd S, Allcock R, Bailey KM, Balottin U, Barnerias C, Bernard G, Bodemer C, Botella MP, Cereda C, ... ... Swoboda KJ, et al. Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. The Lancet. Neurology. 12: 1159-69. PMID 24183309 DOI: 10.1016/S1474-4422(13)70258-8 |
0.457 |
|
| 2013 |
Rice GI, Reijns MA, Coffin SR, Forte GM, Anderson BH, Szynkiewicz M, Gornall H, Gent D, Leitch A, Botella MP, Fazzi E, Gener B, Lagae L, Olivieri I, Orcesi S, ... Swoboda KJ, et al. Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome. Human Mutation. 34: 1066-70. PMID 23592335 DOI: 10.1002/Humu.22336 |
0.428 |
|
| 2013 |
Flanigan KM, Ceco E, Lamar KM, Kaminoh Y, Dunn DM, Mendell JR, King WM, Pestronk A, Florence JM, Mathews KD, Finkel RS, Swoboda KJ, Gappmaier E, Howard MT, Day JW, et al. LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy. Annals of Neurology. 73: 481-8. PMID 23440719 DOI: 10.1002/Ana.23819 |
0.327 |
|
| 2012 |
Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B, Tiziano FD, Fontaine B, Walley NM, Heavin S, Panagiotakaki E, Fiori S, et al. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nature Genetics. 44: 1030-4. PMID 22842232 DOI: 10.1038/ng.2358 |
0.519 |
|
| 2012 |
Lee HY, Huang Y, Bruneau N, Roll P, Roberson ED, Hermann M, Quinn E, Maas J, Edwards R, Ashizawa T, Baykan B, Bhatia K, Bressman S, Bruno MK, Brunt ER, ... ... Swoboda KJ, et al. Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Reports. 1: 2-12. PMID 22832103 DOI: 10.1016/J.Celrep.2011.11.001 |
0.393 |
|
| 2012 |
Finkel RS, Crawford TO, Swoboda KJ, Kaufmann P, Juhasz P, Li X, Guo Y, Li RH, Trachtenberg F, Forrest SJ, Kobayashi DT, Chen KS, Joyce CL, Plasterer T. Candidate proteins, metabolites and transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) clinical study. Plos One. 7: e35462. PMID 22558154 DOI: 10.1371/journal.pone.0035462 |
0.319 |
|
| 2012 |
Crawford TO, Paushkin SV, Kobayashi DT, Forrest SJ, Joyce CL, Finkel RS, Kaufmann P, Swoboda KJ, Tiziano D, Lomastro R, Li RH, Trachtenberg FL, Plasterer T, Chen KS. Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study. Plos One. 7: e33572. PMID 22558076 DOI: 10.1371/journal.pone.0033572 |
0.314 |
|
| 2011 |
Flanigan KM, Dunn DM, von Niederhausern A, Soltanzadeh P, Howard MT, Sampson JB, Swoboda KJ, Bromberg MB, Mendell JR, Taylor LE, Anderson CB, Pestronk A, Florence JM, Connolly AM, Mathews KD, et al. Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene. Human Mutation. 32: 299-308. PMID 21972111 DOI: 10.1002/Humu.21426 |
0.483 |
|
| 2011 |
Chong JX, Oktay AA, Dai Z, Swoboda KJ, Prior TW, Ober C. A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites. European Journal of Human Genetics : Ejhg. 19: 1045-51. PMID 21610747 DOI: 10.1038/Ejhg.2011.85 |
0.35 |
|
| 2011 |
Davis EE, Zhang Q, Liu Q, Diplas BH, Davey LM, Hartley J, Stoetzel C, Szymanska K, Ramaswami G, Logan CV, Muzny DM, Young AC, Wheeler DA, Cruz P, Morgan M, ... ... Swoboda KJ, et al. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nature Genetics. 43: 189-96. PMID 21258341 DOI: 10.1038/Ng.756 |
0.355 |
|
| 2010 |
Soltanzadeh P, Friez MJ, Dunn D, von Niederhausern A, Gurvich OL, Swoboda KJ, Sampson JB, Pestronk A, Connolly AM, Florence JM, Finkel RS, Bönnemann CG, Medne L, Mendell JR, Mathews KD, et al. Clinical and genetic characterization of manifesting carriers of DMD mutations. Neuromuscular Disorders : Nmd. 20: 499-504. PMID 20630757 DOI: 10.1016/j.nmd.2010.05.010 |
0.494 |
|
| 2009 |
Prior TW, Krainer AR, Hua Y, Swoboda KJ, Snyder PC, Bridgeman SJ, Burghes AH, Kissel JT. A positive modifier of spinal muscular atrophy in the SMN2 gene. American Journal of Human Genetics. 85: 408-13. PMID 19716110 DOI: 10.1016/J.Ajhg.2009.08.002 |
0.349 |
|
| 2009 |
Butterfield RJ, Ramachandran D, Hasstedt SJ, Otterud BE, Leppert MF, Swoboda KJ, Flanigan KM. A novel form of juvenile recessive ALS maps to loci on 6p25 and 21q22. Neuromuscular Disorders : Nmd. 19: 279-87. PMID 19318250 DOI: 10.1016/J.Nmd.2009.02.006 |
0.32 |
|
| 2009 |
Schessl J, Taratuto AL, Sewry C, Battini R, Chin SS, Maiti B, Dubrovsky AL, Erro MG, Espada G, Robertella M, Saccoliti M, Olmos P, Bridges LR, Standring P, Hu Y, ... ... Swoboda KJ, et al. Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1. Brain : a Journal of Neurology. 132: 452-64. PMID 19181672 DOI: 10.1093/Brain/Awn325 |
0.436 |
|
| 2008 |
Vajsar J, Baskin B, Swoboda K, Biggar DW, Schachter H, Ray PN. Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate. Neuromuscular Disorders : Nmd. 18: 675-7. PMID 18640039 DOI: 10.1016/J.Nmd.2008.05.014 |
0.457 |
|
| 2008 |
Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, et al. Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Human Mutation. 29: E150-72. PMID 18546365 DOI: 10.1002/humu.20824 |
0.506 |
|
| 2008 |
Bornstein B, Area E, Flanigan KM, Ganesh J, Jayakar P, Swoboda KJ, Coku J, Naini A, Shanske S, Tanji K, Hirano M, DiMauro S. Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene. Neuromuscular Disorders : Nmd. 18: 453-9. PMID 18504129 DOI: 10.1016/J.Nmd.2008.04.006 |
0.468 |
|
| 2004 |
Prior TW, Swoboda KJ, Scott HD, Hejmanowski AQ. Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2. American Journal of Medical Genetics. Part A. 130: 307-10. PMID 15378550 DOI: 10.1002/ajmg.a.30251 |
0.344 |
|
| 2004 |
Swoboda KJ, Kanavakis E, Xaidara A, Johnson JE, Leppert MF, Schlesinger-Massart MB, Ptacek LJ, Silver K, Youroukos S. Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation. Annals of Neurology. 55: 884-7. PMID 15174025 DOI: 10.1002/ana.20134 |
0.368 |
|
| 2003 |
Varon R, Gooding R, Steglich C, Marns L, Tang H, Angelicheva D, Yong KK, Ambrugger P, Reinhold A, Morar B, Baas F, Kwa M, Tournev I, Guerguelcheva V, Kremensky I, ... ... Swoboda K, et al. Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. Nature Genetics. 35: 185-9. PMID 14517542 DOI: 10.1038/Ng1243 |
0.391 |
|
| 2003 |
Bonkowsky JL, Johnson J, Carey JC, Smith AG, Swoboda KJ. An infant with primary tooth loss and palmar hyperkeratosis: a novel mutation in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis. Pediatrics. 112: e237-41. PMID 12949319 |
0.406 |
|
| 2002 |
Pind S, Slominski E, Mauthe J, Pearlman K, Swoboda KJ, Wilkins JA, Sauder P, Natowicz MR. V490M, a common mutation in 3-phosphoglycerate dehydrogenase deficiency, causes enzyme deficiency by decreasing the yield of mature enzyme. The Journal of Biological Chemistry. 277: 7136-43. PMID 11751922 DOI: 10.1074/jbc.M111419200 |
0.351 |
|
| Show low-probability matches. |