Lisa A. Schimmenti, M.D. - Publications

Affiliations: 
Pediatrics University of Minnesota, Twin Cities, Minneapolis, MN 

73 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

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  0.56
2020 Klee EW, Cousin MA, Pinto E Vairo F, Morales-Rosado JA, Macke EL, Jenkinson WG, Ferrer A, Schultz-Rogers LE, Olson RJ, Oliver GR, Sigafoos AN, Schwab TL, Zimmermann MT, Urrutia RA, Kaiwar C, ... ... Schimmenti LA, et al. Impact of integrated translational research on clinical exome sequencing. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 33144682 DOI: 10.1038/s41436-020-01005-9  0.52
2020 Muthusamy K, Hanna C, Johnson DR, Cramer CH, Tebben PJ, Libi SE, Poling GL, Lanpher BC, Morava E, Schimmenti LA. Growth hormone deficiency in a child with branchio-oto-renal spectrum disorder: Clinical evidence of EYA1 in pituitary development and a recommendation for pituitary function surveillance. American Journal of Medical Genetics. Part A. PMID 33098377 DOI: 10.1002/ajmg.a.61942  0.56
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  0.56
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  0.56
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  0.56
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  0.52
2015 Wong D, Tortorelli S, Bishop L, Sellars EA, Schimmenti LA, Gallant N, Prada CE, Hopkin RJ, Leslie ND, Berry SA, Rosenblatt DS, Fair AL, Matern D, Raymond K, Oglesbee D, et al. Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 25856670 DOI: 10.1038/gim.2015.45  0.52
2014 Tye M, Rider D, Duffy EA, Seubert A, Lothert B, Schimmenti LA. Nonhatching Decapsulated Artemia Cysts As a Replacement to Artemia Nauplii in Juvenile and Adult Zebrafish Culture. Zebrafish. PMID 25495227 DOI: 10.1089/zeb.2014.1031  0.52
2014 Summers CG, Schimmenti LA, Sperber S. Hermansky-Pudlak syndrome (HPS5) in a nonagenarian. Journal of Aapos : the Official Publication of the American Association For Pediatric Ophthalmology and Strabismus / American Association For Pediatric Ophthalmology and Strabismus. 18: 209-10. PMID 24698632 DOI: 10.1016/j.jaapos.2014.02.002  0.52
2014 Summers CG, Schimmenti LA. 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. 18: 209. PMID 24698630 DOI: 10.1016/j.jaapos.2014.02.003  0.52
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  0.52
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  0.52
2013 Ringeisen AL, Schimmenti LA, White JG, Schoonveld C, Summers CG. Hermansky-Pudlak syndrome (HPS5) in a nonagenarian. Journal of Aapos : the Official Publication of the American Association For Pediatric Ophthalmology and Strabismus / American Association For Pediatric Ophthalmology and Strabismus. 17: 334-6. PMID 23607980 DOI: 10.1016/j.jaapos.2013.02.002  0.52
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  0.52
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  0.52
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  0.52
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  0.52
2011 Schimmenti LA, Warman B, Schleiss MR, Daly KA, Ross JA, McCann M, Jurek AM, Berry SA. Evaluation of newborn screening bloodspot-based genetic testing as second tier screen for bedside newborn hearing screening. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 13: 1006-10. PMID 21912263 DOI: 10.1097/GIM.0b013e318226fc2e  0.52
2011 Schimmenti LA. Renal coloboma syndrome. European Journal of Human Genetics : Ejhg. 19: 1207-12. PMID 21654726 DOI: 10.1038/ejhg.2011.102  0.52
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  0.52
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  0.52
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  0.52
2010 Theisen A, Rosenfeld JA, Shane K, McBride KL, Atkin JF, Gaba C, Hoo J, Kurczynski TW, Schnur RE, Coffey LB, Zackai EH, Schimmenti L, Friedman N, Zabukovec M, Ball S, et al. Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1. Molecular Syndromology. 1: 262-271. PMID 22140379 DOI: 10.1159/000328405  0.52
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  0.52
2010 Tortorelli S, Turgeon CT, Lim JS, Baumgart S, Day-Salvatore DL, Abdenur J, Bernstein JA, Lorey F, Lichter-Konecki U, Oglesbee D, Raymond K, Matern D, Schimmenti L, Rinaldo P, Gavrilov DK. Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometry. The Journal of Pediatrics. 157: 271-5. PMID 20394947 DOI: 10.1016/j.jpeds.2010.02.027  0.52
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  0.52
2010 Sam-Agudu NA, Greene JA, Opoka RO, Kazura JW, Boivin MJ, Zimmerman PA, Riedesel MA, Bergemann TL, Schimmenti LA, John CC. TLR9 polymorphisms are associated with altered IFN-gamma levels in children with cerebral malaria. The American Journal of Tropical Medicine and Hygiene. 82: 548-55. PMID 20348497 DOI: 10.4269/ajtmh.2010.09-0467  0.52
2010 Sarafoglou K, Tridgell AH, Bentler K, Redlinger-Grosse K, Berry SA, Schimmenti LA. Cardiac conduction improvement in two heterozygotes for primary carnitine deficiency on L-carnitine supplementation. Clinical Genetics. 78: 191-4. PMID 20095986 DOI: 10.1111/j.1399-0004.2009.01368.x  0.52
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  0.52
2010 Schimmenti LA, Palmer CGS. Molecular Diagnostic Evaluation of Deaf and Hard-of-Hearing Individuals Molecular Diagnostics. 461-471. DOI: 10.1016/B978-0-12-369428-7.00038-0  0.52
2009 Choi KY, Schimmenti LA, Jurek AM, Sharon B, Daly K, Khan C, McCann M, Schleiss MR. Detection of cytomegalovirus DNA in dried blood spots of Minnesota infants who do not pass newborn hearing screening. The Pediatric Infectious Disease Journal. 28: 1095-8. PMID 19820425 DOI: 10.1097/INF.0b013e3181af6230  0.52
2009 Selkirk CG, McCarthy Veach P, Lian F, Schimmenti L, LeRoy BS. Parents' perceptions of autism spectrum disorder etiology and recurrence risk and effects of their perceptions on family planning: Recommendations for genetic counselors. Journal of Genetic Counseling. 18: 507-19. PMID 19488842 DOI: 10.1007/s10897-009-9233-0  0.52
2009 Palmer CG, Martinez A, Fox M, Zhou J, Shapiro N, Sininger Y, Grody WW, Schimmenti LA. A prospective, longitudinal study of the impact of GJB2/GJB6 genetic testing on the beliefs and attitudes of parents of deaf and hard-of-hearing infants. American Journal of Medical Genetics. Part A. 149: 1169-82. PMID 19449415 DOI: 10.1002/ajmg.a.32853  0.52
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  0.52
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  0.52
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  0.52
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  0.52
2008 Bishop L, Kanoff R, Charnas L, Krenzel C, Berry SA, Schimmenti LA. Severe methylenetetrahydrofolate reductase (MTHFR) deficiency: a case report of nonclassical homocystinuria. Journal of Child Neurology. 23: 823-8. PMID 18658082 DOI: 10.1177/0883073808315410  0.52
2008 Schimmenti LA, Martinez A, Telatar M, Lai CH, Shapiro N, Fox M, Warman B, McCarra M, Crandall B, Sininger Y, Grody WW, Palmer CG. Infant hearing loss and connexin testing in a diverse population. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 10: 517-24. PMID 18580690 DOI: 10.1097/GIM.0b013e31817708fa  0.52
2008 Zhou J, Kherani F, Bardakjian TM, Katowitz J, Hughes N, Schimmenti LA, Schneider A, Young TL. Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia. Molecular Vision. 14: 583-92. PMID 18385794  0.52
2008 Raca G, Schimmenti L, Martin CL. Intrachromosomal duplications of 22q11 are not a common cause of isolated coloboma and coloboma with other limited features of cat eye syndrome [7] American Journal of Medical Genetics, Part A. 146: 401-404. PMID 18203172 DOI: 10.1002/ajmg.a.32130  0.52
2008 Palmer CG, Martinez A, Fox M, Sininger Y, Grody WW, Schimmenti LA. Ethnic differences in parental perceptions of genetic testing for deaf infants. Journal of Genetic Counseling. 17: 129-38. PMID 17952575 DOI: 10.1007/s10897-007-9134-z  0.52
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  0.52
2007 Blase T, Martinez A, Grody WW, Schimmenti L, Palmer CGS. Sharing GJB2/GJB6 genetic test information with family members Journal of Genetic Counseling. 16: 313-324. PMID 17318457 DOI: 10.1007/s10897-006-9066-z  0.52
2007 Schimmenti LA, Crombez EA, Schwahn BC, Heese BA, Wood TC, Schroer RJ, Bentler K, Cederbaum S, Sarafoglou K, McCann M, Rinaldo P, Matern D, di San Filippo CA, Pasquali M, Berry SA, et al. Expanded newborn screening identifies maternal primary carnitine deficiency. Molecular Genetics and Metabolism. 90: 441-5. PMID 17126586 DOI: 10.1016/j.ymgme.2006.10.003  0.52
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  0.52
2006 Hills C, Moller JH, Finkelstein M, Lohr J, Schimmenti L. Cri du chat syndrome and congenital heart disease: A review of previously reported cases and presentation of an additional 21 cases from the pediatric cardiac care consortium Pediatrics. 117: e924-e927. PMID 16585274 DOI: 10.1542/peds.2005-1012  0.52
2006 Hills CB, Schimmenti LA, Pyles LA, Moran AM, Guiang SF. September in the NICU: A Down syndrome newborn is feeding poorly Contemporary Pediatrics. 23: 21-26+28.  0.52
2005 Palmer CG, Martinez A, Sininger Y, Shapiro N, Grody WW, Schimmenti LA. Prelingual siblings of children with GJB2 hearing loss: issues to consider. Archives of Otolaryngology--Head & Neck Surgery. 131: 1020-2. PMID 16301377 DOI: 10.1001/archotol.131.11.1020  0.52
2005 Crombez EA, Dipple KM, Schimmenti LA, Rao N. Duplication of the Down syndrome critical region does not predict facial phenotype in a baby with a ring chromosome 21. Clinical Dysmorphology. 14: 183-7. PMID 16155419 DOI: 10.1097/00019605-200510000-00003  0.52
2004 Schimmenti LA, Martinez A, Fox M, Crandall B, Shapiro N, Telatar M, Sininger Y, Grody WW, Palmer CG. Genetic testing as part of the early hearing detection and intervention (EHDI) process. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 6: 521-5. PMID 15545749 DOI: 10.1097/01.GIM.0000144187.21727.28  0.52
2003 Zimmerman R, Schimmenti L, Spector L. A Catalog of Genetic Syndromes in Childhood Cancer Pediatric Blood and Cancer. 62: 2071-2075. PMID 26312571 DOI: 10.1002/pbc.25726  0.52
2003 Vatta M, Mohapatra B, Jimenez S, Sanchez X, Faulkner G, Perles Z, Sinagra G, Lin JH, Vu TM, Zhou Q, Bowles KR, Di Lenarda A, Schimmenti L, Fox M, Chrisco MA, et al. Mutations in Cypher/ZASP in Patients with Dilated Cardiomyopathy and Left Ventricular Non-Compaction Journal of the American College of Cardiology. 42: 2014-2027. PMID 14662268 DOI: 10.1016/j.jacc.2003.10.021  0.52
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  0.52
2003 Taub PJ, Bradley JP, Setoguchi Y, Schimmenti L, Kawamoto HK. Typical facial clefting and constriction band anomalies: An unusual association in three unrelated patients American Journal of Medical Genetics. 120: 256-260. PMID 12833410  0.52
2003 Martinez A, Linden J, Schimmenti LA, Palmer CG. Attitudes of the broader hearing, deaf, and hard-of-hearing community toward genetic testing for deafness. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 5: 106-12. PMID 12644780 DOI: 10.1097/01.GIM.0000055200.52906.75  0.52
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  0.52
2002 Parsa CF, Goldberg MF, Hunter DG, Edwards AO, Schimmenti LA, Chung GC. Papillorenal ("renal coloboma") syndrome [2] (multiple letters) American Journal of Ophthalmology. 134: 300-301. PMID 12140054 DOI: 10.1016/S0002-9394(02)01533-7  0.52
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  0.52
2001 Chung GW, Edwards AO, Schimmenti LA, Manligas GS, Zhang YH, Ritter R. Renal-coloboma syndrome: report of a novel PAX2 gene mutation. American Journal of Ophthalmology. 132: 910-4. PMID 11730657 DOI: 10.1016/S0002-9394(01)01231-4  0.52
2001 Gelb A, Manligas G, Gharaybeh S, Schimmenti L. Identification of two novel polymorphisms (g.903C>T and g.1544C>T) in the PAX2 gene Human Mutation. 17: 155. PMID 11180607  0.52
2001 Palmer CGS, Martinez A, Fox M, Crandall B, Shapiro N, Telatar M, Sininger Y, Grody WW, Schimmenti LA. Genetic testing and the early hearing detection and intervention process Volta Review. 103: 371-390.  0.52
1999 Shim HH, Nakamura BN, Cantor RM, Schimmenti LA. Identification of two single nucleotide polymorphisms in exon 8 of PAX2. Molecular Genetics and Metabolism. 68: 507-10. PMID 10607481 DOI: 10.1006/mgme.1999.2931  0.52
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  0.52
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  0.52
1997 Schimmenti LA, Cunliffe HE, McNoe LA, Ward TA, French MC, Shim HH, Zhang YH, Proesmans W, Leys A, Byerly KA, Braddock SR, Masuno M, Imaizumi K, Devriendt K, Eccles MR. Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations. American Journal of Human Genetics. 60: 869-78. PMID 9106533  0.52
1995 Schimmenti LA, Pierpont ME, Carpenter BL, Kashtan CE, Johnson MR, Dobyns WB. Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies. American Journal of Medical Genetics. 59: 204-8. PMID 8588587 DOI: 10.1002/ajmg.1320590217  0.52
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  0.52
1995 Schimmenti LA, Higgins RR, Mendelsohn NJ, Casey TM, Steinberger J, Mammel MC, Wiesner GL. Monosomy 9p24-->pter and trisomy 5q31-->qter: case report and review of two cases. American Journal of Medical Genetics. 57: 52-6. PMID 7645598 DOI: 10.1002/ajmg.1320570112  0.52
1994 Silvestri G, Santorelli FM, Shanske S, Whitley CB, Schimmenti LA, Smith SA, DiMauro S. A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy. Human Mutation. 3: 37-43. PMID 7906985 DOI: 10.1002/humu.1380030107  0.52
1994 Schimmenti LA, Berry SA, Tuchman M, Hirsch B. Infant with multiple congenital anomalies and deletion (9)(q34.3). American Journal of Medical Genetics. 51: 140-2. PMID 7522397 DOI: 10.1002/ajmg.1320510211  0.52
1992 Schimmenti LA, Yan HC, Madri JA, Albelda SM. Platelet endothelial cell adhesion molecule, PECAM-1, modulates cell migration. Journal of Cellular Physiology. 153: 417-28. PMID 1429859 DOI: 10.1002/jcp.1041530222  0.52
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