| Year |
Citation |
Score |
| 2020 |
Koleilat A, Dugdale JA, Christenson TA, Bellah JL, Lambert AM, Masino MA, Ekker SC, Schimmenti LA. L-type voltage-gated calcium channel agonists mitigate hearing loss and modify ribbon synapse morphology in the zebrafish model of Usher syndrome type 1 Disease Models & Mechanisms. 13. PMID 33361086 DOI: 10.1242/dmm.043885 |
0.436 |
|
| 2020 |
Koleilat A, Argue DP, Schimmenti LA, Ekker SC, Poling GL. The GoAudio Quantitative Mobile Audiology Test Enhances Access to Clinical Hearing Assessments. American Journal of Audiology. 1-11. PMID 33079580 DOI: 10.1044/2020_AJA-20-00060 |
0.455 |
|
| 2020 |
Muthusamy K, Macke EL, Klee EW, Tebben PJ, Hand JL, Hasadsri L, Marcou CA, Schimmenti LA. Congenital ichthyosis in Prader-Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD. American Journal of Medical Genetics. Part A. PMID 32815268 DOI: 10.1002/Ajmg.A.61792 |
0.341 |
|
| 2020 |
Ichino N, Serres MR, Urban RM, Urban MD, Treichel AJ, Schaefbauer KJ, Greif LE, Varshney GK, Skuster KJ, McNulty MS, Daby CL, Wang Y, Liao HK, El-Rass S, Ding Y, ... ... Schimmenti LA, et al. Building the vertebrate codex using the gene breaking protein trap library. Elife. 9. PMID 32779569 DOI: 10.7554/Elife.54572 |
0.567 |
|
| 2020 |
Ichino N, Serres MR, Urban RM, Urban MD, Treichel AJ, Schaefbauer KJ, Greif LE, Varshney GK, Skuster KJ, McNulty MS, Daby CL, Wang Y, Liao H, El-Rass S, Ding Y, ... ... Schimmenti LA, et al. Author response: Building the vertebrate codex using the gene breaking protein trap library Elife. DOI: 10.7554/Elife.54572.Sa2 |
0.519 |
|
| 2019 |
Blackburn PR, Zepeda-Mendoza CJ, Kruisselbrink TM, Schimmenti LA, García-Miñaur S, Palomares M, Nevado J, Mori MA, Le Meur G, Klee EW, Le Caignec C, Lapunzina P, Isidor B, Babovic-Vuksanovic D. Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases. European Journal of Human Genetics : Ejhg. PMID 31053785 DOI: 10.1038/S41431-019-0423-4 |
0.349 |
|
| 2019 |
DiStefano MT, Hemphill SE, Oza AM, Siegert RK, Grant AR, Hughes MY, Cushman BJ, Azaiez H, Booth KT, Chapin A, Duzkale H, Matsunaga T, Shen J, Zhang W, Kenna M, ... Schimmenti LA, et al. ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30894701 DOI: 10.1038/S41436-019-0487-0 |
0.319 |
|
| 2018 |
Riché R, Liao M, Pena IA, Leung KY, Lepage N, Greene N, Sarafoglou K, Schimmenti LA, Drapeau P, Samarut É. Glycine decarboxylase deficiency-induced motor dysfunction in zebrafish is rescued by counterbalancing glycine synaptic level. Jci Insight. 3. PMID 30385710 DOI: 10.1172/Jci.Insight.124642 |
0.309 |
|
| 2018 |
Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Murry JB, Hasadsri L, Nara K, Kenna M, Booth KT, et al. Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss. Human Mutation. 39: 1593-1613. PMID 30311386 DOI: 10.1002/Humu.23630 |
0.317 |
|
| 2018 |
Shah SM, Schimmenti LA, Marmorstein AD, Bakri SJ. ADULT-ONSET VITELLIFORM MACULAR DYSTROPHY SECONDARY TO A NOVEL IMPG2 GENE VARIANT. Retinal Cases & Brief Reports. PMID 30300315 DOI: 10.1097/Icb.0000000000000824 |
0.301 |
|
| 2018 |
Greenberg-Worisek AJ, Campbell KA, Klee EW, Staff NP, Schimmenti LA, Weavers KM, Ekker SC, Windebank AJ. Case-Based Learning in Translational Biomedical Research Education Provides More Realistic and Adaptive Skills for Early-Career Scientists Than Didactic Sessions. Academic Medicine : Journal of the Association of American Medical Colleges. PMID 30256254 DOI: 10.1097/Acm.0000000000002470 |
0.47 |
|
| 2017 |
Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, ... ... Schimmenti LA, et al. SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nature Genetics. PMID 28067909 DOI: 10.1038/Ng.3743 |
0.342 |
|
| 2016 |
Pei W, Xu L, Varshney GK, Carrington B, Bishop K, Jones M, Huang SC, Idol J, Pretorius PR, Beirl A, Schimmenti LA, Kindt KS, Sood R, Burgess SM. Additive reductions in zebrafish PRPS1 activity result in a spectrum of deficiencies modeling several human PRPS1-associated diseases. Scientific Reports. 6: 29946. PMID 27425195 DOI: 10.1038/Srep29946 |
0.327 |
|
| 2016 |
Brasseur B, Martin CM, Cayci Z, Burmeister L, Schimmenti LA. Bosma arhina microphthalmia syndrome: Clinical report and review of the literature. American Journal of Medical Genetics. Part A. PMID 26842768 DOI: 10.1002/Ajmg.A.37572 |
0.303 |
|
| 2016 |
Schimmenti LA, Steyermark J, Bower M. Genetic Testing for Deaf and Hard of Hearing Individuals: Genetic Counseling Current Genetic Medicine Reports. 4: 27-34. DOI: 10.1007/S40142-016-0089-Y |
0.308 |
|
| 2015 |
Duffy EA, Pretorius PR, Lerach S, Lohr JL, Hirsch B, Souza CM, Veillette A, Schimmenti LA. Mosaic partial deletion of PTPN12 in a child with interrupted aortic arch type A. American Journal of Medical Genetics. Part A. 167: 2674-83. PMID 26250342 DOI: 10.1002/Ajmg.A.37279 |
0.332 |
|
| 2015 |
Boone J, Bower M, Thyagarajan B, Schimmenti LA. 76: Hereditary Retinopathy: Expansion to a Single Large Next-Generation Sequencing Gene Panel Encompassing All Known Retinal Phenotypes American Journal of Clinical Pathology. 143. DOI: 10.1093/Ajcp/143.Suppl1.046 |
0.309 |
|
| 2013 |
Radke P, Schimmenti LA, Schoonveld C, Bothun ED, Summers CG. The unique association of iris heterochromia with Hermansky-Pudlak syndrome. Journal of Aapos : the Official Publication of the American Association For Pediatric Ophthalmology and Strabismus / American Association For Pediatric Ophthalmology and Strabismus. 17: 542-4. PMID 24054038 DOI: 10.1016/J.Jaapos.2013.05.012 |
0.302 |
|
| 2013 |
Karger AB, Wilson JD, Bower M, Schimmenti LA, Thyagarajan B. Detection of PAX2 deletions and duplications using multiplex ligation-dependent probe amplification. Genetic Testing and Molecular Biomarkers. 17: 786-8. PMID 23756089 DOI: 10.1089/Gtmb.2013.0176 |
0.374 |
|
| 2012 |
Laimutis K, Jackson C, Xu X, Warman B, Sarunas R, Andriuskeviciute I, Birute P, Schimmenti LA, Raca G. Typical renal-coloboma syndrome phenotype in a patient with a submicroscopic deletion of the PAX2 gene. American Journal of Medical Genetics. Part A. 158: 1437-41. PMID 22581475 DOI: 10.1002/Ajmg.A.35342 |
0.371 |
|
| 2012 |
Bedell VM, Person AD, Larson JD, McLoon A, Balciunas D, Clark KJ, Neff KI, Nelson KE, Bill BR, Schimmenti LA, Beiraghi S, Ekker SC. The lineage-specific gene ponzr1 is essential for zebrafish pronephric and pharyngeal arch development. Development (Cambridge, England). 139: 793-804. PMID 22274699 DOI: 10.1242/Dev.071720 |
0.739 |
|
| 2012 |
Bower M, Salomon R, Allanson J, Antignac C, Benedicenti F, Benetti E, Binenbaum G, Jensen UB, Cochat P, DeCramer S, Dixon J, Drouin R, Falk MJ, Feret H, Gise R, ... ... Schimmenti LA, et al. Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database. Human Mutation. 33: 457-66. PMID 22213154 DOI: 10.1002/Humu.22020 |
0.363 |
|
| 2012 |
Chang TC, Summers CG, Schimmenti LA, Grajewski AL. Axenfeld-Rieger syndrome: new perspectives. The British Journal of Ophthalmology. 96: 318-22. PMID 22199394 DOI: 10.1136/Bjophthalmol-2011-300801 |
0.342 |
|
| 2011 |
Schimmenti LA. Renal coloboma syndrome. European Journal of Human Genetics : Ejhg. 19: 1207-12. PMID 21654726 DOI: 10.1038/Ejhg.2011.102 |
0.314 |
|
| 2011 |
Hills CB, Kochilas L, Schimmenti LA, Moller JH. Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases. Pediatric Cardiology. 32: 977-82. PMID 21533779 DOI: 10.1007/S00246-011-0006-9 |
0.316 |
|
| 2011 |
Bower M, Eccles M, Heidet L, Schimmenti LA. Clinical utility gene card for: renal coloboma (Papillorenal) syndrome. European Journal of Human Genetics : Ejhg. 19. PMID 21326282 DOI: 10.1038/Ejhg.2011.16 |
0.351 |
|
| 2011 |
Raca G, Jackson CA, Kucinskas L, Warman B, Shieh JT, Schneider A, Bardakjian TM, Schimmenti LA. Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 13: 437-42. PMID 21285886 DOI: 10.1097/Gim.0B013E318204Cfd2 |
0.357 |
|
| 2011 |
Bedell VM, Person A, Larson J, McLoon A, Balciunas D, Clark K, Nelson K, Bill B, Schimmenti L, Beiraghi S, Ekker S. Vertebrate kidney innovation by ponzr1 Developmental Biology. 356: 255. DOI: 10.1016/J.Ydbio.2011.05.579 |
0.709 |
|
| 2010 |
Dolan M, Mendelsohn NJ, Pierpont ME, Schimmenti LA, Berry SA, Hirsch B. A novel microdeletion/microduplication syndrome of 19p13.13. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 12: 503-11. PMID 20613546 DOI: 10.1097/Gim.0B013E3181E59291 |
0.334 |
|
| 2010 |
Raca G, Jackson C, Warman B, Bair T, Schimmenti LA. Next generation sequencing in research and diagnostics of ocular birth defects. Molecular Genetics and Metabolism. 100: 184-92. PMID 20359920 DOI: 10.1016/J.Ymgme.2010.03.004 |
0.325 |
|
| 2010 |
Person AD, Beiraghi S, Sieben CM, Hermanson S, Neumann AN, Robu ME, Schleiffarth JR, Billington CJ, van Bokhoven H, Hoogeboom JM, Mazzeu JF, Petryk A, Schimmenti LA, Brunner HG, Ekker SC, et al. WNT5A mutations in patients with autosomal dominant Robinow syndrome. Developmental Dynamics : An Official Publication of the American Association of Anatomists. 239: 327-37. PMID 19918918 DOI: 10.1002/Dvdy.22156 |
0.556 |
|
| 2009 |
Bill BR, Petzold AM, Clark KJ, Schimmenti LA, Ekker SC. A primer for morpholino use in zebrafish. Zebrafish. 6: 69-77. PMID 19374550 DOI: 10.1089/Zeb.2008.0555 |
0.713 |
|
| 2009 |
Schimmenti LA. Genetic and developmental basis of renal coloboma (papillorenal) syndrome Expert Review of Ophthalmology. 4: 135-144. DOI: 10.1586/Eop.09.3 |
0.323 |
|
| 2008 |
Schneider A, Bardakjian TM, Zhou J, Hughes N, Keep R, Dorsainville D, Kherani F, Katowitz J, Schimmenti LA, Hummel M, Fitzpatrick DR, Young TL. Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters. American Journal of Medical Genetics. Part A. 146: 2794-8. PMID 18831064 DOI: 10.1002/Ajmg.A.32384 |
0.351 |
|
| 2008 |
Bill BR, Balciunas D, McCarra JA, Young ED, Xiong T, Spahn AM, Garcia-Lecea M, Korzh V, Ekker SC, Schimmenti LA. Development and Notch signaling requirements of the zebrafish choroid plexus. Plos One. 3: e3114. PMID 18769591 DOI: 10.1371/Journal.Pone.0003114 |
0.719 |
|
| 2007 |
Balciuniene J, Feng N, Iyadurai K, Hirsch B, Charnas L, Bill BR, Easterday MC, Staaf J, Oseth L, Czapansky-Beilman D, Avramopoulos D, Thomas GH, Borg A, Valle D, Schimmenti LA, et al. Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities. American Journal of Human Genetics. 80: 938-47. PMID 17436248 DOI: 10.1086/513607 |
0.697 |
|
| 2006 |
Pickart MA, Klee EW, Nielsen AL, Sivasubbu S, Mendenhall EM, Bill BR, Chen E, Eckfeldt CE, Knowlton M, Robu ME, Larson JD, Deng Y, Schimmenti LA, Ellis LB, Verfaillie CM, et al. Genome-wide reverse genetics framework to identify novel functions of the vertebrate secretome. Plos One. 1: e104. PMID 17218990 DOI: 10.1371/Journal.Pone.0000104 |
0.741 |
|
| 2006 |
Bill BR, DeLuca A, Warman B, Larson JD, Ekker SC, Schimmenti LA. Knockdown of alpha-1-microglobulin bikunin precursor (AMBP) causes ocular, and craniofacial defects Developmental Biology. 295: 463. DOI: 10.1016/J.Ydbio.2006.04.425 |
0.707 |
|
| 2003 |
Schimmenti LA, Manligas GS, Sieving PA. Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome. Ophthalmic Genetics. 24: 191-202. PMID 14566649 DOI: 10.1076/Opge.24.4.191.17229 |
0.326 |
|
| 2003 |
Schimmenti LA, de la Cruz J, Lewis RA, Karkera JD, Manligas GS, Roessler E, Muenke M. Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. American Journal of Medical Genetics. Part A. 116: 215-21. PMID 12503095 DOI: 10.1002/Ajmg.A.10884 |
0.359 |
|
| 2002 |
Martin DM, Probst FJ, Fox SE, Schimmenti LA, Semina EV, Hefner MA, Belmont JW, Camper SA. Exclusion of PITX2 mutations as a major cause of CHARGE association. American Journal of Medical Genetics. 111: 27-30. PMID 12124729 DOI: 10.1002/Ajmg.10473 |
0.315 |
|
| 1999 |
Schimmenti LA, Shim HH, Wirtschafter JD, Panzarino VA, Kashtan CE, Kirkpatrick SJ, Wargowski DS, France TD, Michel E, Dobyns WB. Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome. Human Mutation. 14: 369-76. PMID 10533062 DOI: 10.1002/(Sici)1098-1004(199911)14:5<369::Aid-Humu2>3.0.Co;2-E |
0.331 |
|
| 1999 |
Eccles MR, Schimmenti LA. Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations. Clinical Genetics. 56: 1-9. PMID 10466411 DOI: 10.1034/J.1399-0004.1999.560101.X |
0.339 |
|
| 1995 |
Sanyanusin P, Schimmenti LA, McNoe LA, Ward TA, Pierpont ME, Sullivan MJ, Dobyns WB, Eccles MR. Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Nature Genetics. 9: 358-64. PMID 7795640 DOI: 10.1038/Ng0495-358 |
0.352 |
|
| 1995 |
Winkelmann J, Ward J, Mayeux P, Lacombe C, Schimmenti L, Jenkins R. A translocated erythropoietin receptor gene in a human erythroleukemia cell line (TF-1) expresses an abnormal transcript and a truncated protein Blood. 85: 179-185. DOI: 10.1182/Blood.V85.1.179.Bloodjournal851179 |
0.313 |
|
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