| 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 |
0.438 |
|
| 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 |
0.457 |
|
| 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 |
0.569 |
|
| 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 |
0.521 |
|
| 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 |
0.348 |
|
| 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 |
0.3 |
|
| 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 |
0.472 |
|
| 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 |
0.302 |
|
| 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 |
0.307 |
|
| 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 |
0.301 |
|
| 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 |
0.74 |
|
| 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 |
0.341 |
|
| 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 |
0.358 |
|
| 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 |
0.711 |
|
| 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 |
0.333 |
|
| 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 |
0.324 |
|
| 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 |
0.557 |
|
| 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 |
0.715 |
|
| 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 |
0.322 |
|
| 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 |
0.721 |
|
| 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 |
0.7 |
|
| 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 |
0.743 |
|
| 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 |
0.709 |
|
| 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 |
0.325 |
|
| 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 |
0.358 |
|
| 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 |
0.314 |
|
| Low-probability matches (unlikely to be authored by this person) |
| 1996 |
Sanyanusin P, Schimmenti LA, McNoe LA, Ward TA, Pierpont MEM, Sullivan MJ, Dobyns WB, Eccles MR. Erratum: Corrigendum: Mutation of the gene in a family with optic nerve colobomas, renal anomolies and vesicoureteral reflux Nature Genetics. 13: 129-129. DOI: 10.1038/Ng0596-129C |
0.299 |
|
| 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 |
0.294 |
|
| 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 |
0.291 |
|
| 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. Correction: 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 31114025 DOI: 10.1038/S41436-019-0553-7 |
0.289 |
|
| 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 |
0.289 |
|
| 2019 |
Rusheen AE, Smadbeck JB, Schimmenti LA, Klee EW, Link MJ, Vasmatzis G, Carlson ML. Proposal for Modification of Cahan's Criteria Utilizing Molecular Genetic Analyses for Cases without Baseline Histopathology: A Unique Method Applicable to Primary Radiosurgery. Journal of Neurological Surgery. Part B, Skull Base. 80: 10-17. PMID 30733895 DOI: 10.1055/S-0038-1655759 |
0.289 |
|
| 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 |
0.288 |
|
| 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 |
0.287 |
|
| 2020 |
Wilton KM, Gunderson LB, Hasadsri L, Wood CP, Schimmenti LA. Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta. Molecular Genetics & Genomic Medicine. e1211. PMID 32162493 DOI: 10.1002/Mgg3.1211 |
0.287 |
|
| 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 |
0.287 |
|
| 2020 |
Koleilat A, Schimmenti LA, Poling GL. Current Approaches to the Management of Usher Syndrome for the Clinician Perspectives of the Asha Special Interest Groups. 5: 907-916. DOI: 10.1044/2020_Persp-20-00013 |
0.287 |
|
| 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 |
0.284 |
|
| 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 |
0.283 |
|
| 2018 |
Esdal HCD, Ghbeis MB, Saltzman DA, Hess D, Hume JR, Reed RC, Berry SA, Hoggard E, Hirsch B, Baughn LB, Schimmenti LA. Necrotizing Enterocolitis in Two Siblings and an Unrelated Infant with Overlapping Chromosome 6q25 Deletions. Molecular Syndromology. 9: 141-148. PMID 29928179 DOI: 10.1159/000488817 |
0.282 |
|
| 2018 |
Carlson ML, Smadbeck JB, Link MJ, Klee EW, Vasmatzis G, Schimmenti LA. Next Generation Sequencing of Sporadic Vestibular Schwannoma: Necessity of Biallelic NF2 Inactivation and Implications of Accessory Non-NF2 Variants. Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology. PMID 30106846 DOI: 10.1097/Mao.0000000000001932 |
0.276 |
|
| 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 |
0.275 |
|
| 2019 |
Yohe S, Sivasankar M, Ghosh A, Ghosh A, Holle J, Murugan S, Gupta R, Schimmenti LA, Vedam R, Thyagarajan B. Prevalence of mutations in inherited retinal diseases: A comparison between the United States and India. Molecular Genetics & Genomic Medicine. e1081. PMID 31816670 DOI: 10.1002/Mgg3.1081 |
0.274 |
|
| 2017 |
Meyer L, Sharon B, Huang TC, Meyer AC, Gravel KE, Schimmenti LA, Swanson EC, Herd HE, Hernandez-Alvarado N, Coverstone KR, McCann M, Schleiss MR. Analysis of archived newborn dried blood spots (DBS) identifies congenital cytomegalovirus as a major cause of unexplained pediatric sensorineural hearing loss. American Journal of Otolaryngology. PMID 28629849 DOI: 10.1016/J.Amjoto.2017.06.002 |
0.273 |
|
| 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 |
0.271 |
|
| 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 |
0.265 |
|
| 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 |
0.264 |
|
| 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 |
0.26 |
|
| 2020 |
Youssef SJ, Macielak RJ, Schimmenti LA, Chatzopoulos K, Price DL. Hypopharyngeal Squamous Cell Carcinoma in Sisters with LMNA Associated Familial Partial Lipodystrophy: A Case Report and Review of the Literature. The Annals of Otology, Rhinology, and Laryngology. 3489420933645. PMID 32517491 DOI: 10.1177/0003489420933645 |
0.258 |
|
| 2016 |
Schimmenti LA. Zebrafish: A Functional Refuge at the End of an Odyssey. Zebrafish. PMID 27078219 DOI: 10.1089/Zeb.2016.29005.Sch |
0.257 |
|
| 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 |
0.257 |
|
| 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 |
0.256 |
|
| 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 |
0.256 |
|
| 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 |
0.253 |
|
| 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 |
0.252 |
|
| 2015 |
Lee S, Schimmenti LA, King RA, Brilliant M, Anderson JL, Schoonveld C, Summers CG. Posterior staphyloma in oculocutaneous albinism: another possible cause of reduced visual acuity. Journal of Aapos : the Official Publication of the American Association For Pediatric Ophthalmology and Strabismus / American Association For Pediatric Ophthalmology and Strabismus. 19: 562-4. PMID 26691042 DOI: 10.1016/J.Jaapos.2015.06.009 |
0.251 |
|
| 2017 |
Anzalone CL, Ho ML, Patel NS, Schimmenti LA, DeJong MD, Carlson ML. Bilateral Labyrinthine and Internal Auditory Canal Enhancement in an Infant With Severe Labyrinthine Dysplasia: A Previously Unreported Phenomenon. Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology. PMID 28346292 DOI: 10.1097/Mao.0000000000001392 |
0.249 |
|
| 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 |
0.249 |
|
| 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 DOI: 10.1002/Ajmg.A.20240 |
0.248 |
|
| 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 |
0.245 |
|
| 2021 |
Safgren SL, Olson RJ, Pinto E Vairo F, Bothun ED, Hanna C, Klee EW, Schimmenti LA. De novo PBX1 variant in a patient with glaucoma, kidney anomalies, and developmental delay: An expansion of the CAKUTHED phenotype. American Journal of Medical Genetics. Part A. PMID 34797033 DOI: 10.1002/ajmg.a.62576 |
0.242 |
|
| 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 |
0.241 |
|
| 2020 |
Koleilat A, Driscoll CLW, Schimmenti LA, Poling GL. Emerging Therapies and Approaches to Treat and Prevent Hearing Loss Perspectives of the Asha Special Interest Groups. 1-19. DOI: 10.1044/2020_Persp-20-00072 |
0.237 |
|
| 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 |
0.234 |
|
| 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 |
0.234 |
|
| 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 |
0.23 |
|
| 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 |
0.227 |
|
| 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 |
0.227 |
|
| 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 |
0.223 |
|
| 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 |
0.222 |
|
| 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 |
0.219 |
|
| 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 |
0.218 |
|
| 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 |
0.217 |
|
| 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 DOI: 10.1002/1098-1004(200102)17:2<155::Aid-Humu16>3.0.Co;2-9 |
0.214 |
|
| 2016 |
Schimmenti LA. Tank to Bedside: Keep Swimming Toward Precision Medicine Discoveries. Zebrafish. PMID 27828765 DOI: 10.1089/Zeb.2016.1384 |
0.212 |
|
| 2024 |
Farris J, Khanna C, Smadbeck JB, Johnson SH, Bothun E, Kaplan T, Hoffman F, Polonis K, Oliver G, Reis LM, Semina EV, Rust L, Hoppman NL, Vasmatzis G, Marcou CA, ... Schimmenti LA, et al. Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld-Rieger Syndrome. American Journal of Medical Genetics. Part A. PMID 38234180 DOI: 10.1002/ajmg.a.63542 |
0.21 |
|
| 2020 |
Brodsky MC, Schimmenti L, Iezzi R. The Best Retinitis Pigmentosa Masquerade. Ophthalmology. 126: 1694. PMID 31759503 DOI: 10.1016/J.Ophtha.2019.07.015 |
0.206 |
|
| 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 |
0.206 |
|
| 2020 |
Butz M, McDonald A, Lundquist PA, Meyer M, Harrington S, Kester S, Stein MI, Mistry NA, Zimmerman Zuckerman E, Niu Z, Schimmenti L, Hasadsri L, Boczek NJ. Development and Validation of a Next-Generation Sequencing Panel for Syndromic and Nonsyndromic Hearing Loss. The Journal of Applied Laboratory Medicine. 5: 467-479. PMID 32445360 DOI: 10.1093/jalm/jfaa021 |
0.2 |
|
| 2022 |
van Woerden GM, Senden R, de Konink C, Trezza RA, Baban A, Bassetti JA, van Bever Y, Bird LM, van Bon BW, Brooks AS, Guan Q, Klee EW, Marcelis C, Rosado JM, Schimmenti LA, et al. The MAP3K7 gene: further delineation of clinical characteristics and genotype/phenotype correlations. Human Mutation. PMID 35730652 DOI: 10.1002/humu.24425 |
0.193 |
|
| 2020 |
Shah SM, Schimmenti LA, Chiang J, Iezzi R. Association of pigmented paravenous retinochoroidal atrophy (PPRCA) with a pathogenic variant in the HK1 gene. Retinal Cases & Brief Reports. PMID 33165303 DOI: 10.1097/ICB.0000000000001077 |
0.19 |
|
| 2017 |
Schimmenti LA. Tank to Bedside: Zebrafish and the Cancer Moonshot. Zebrafish. PMID 28570143 DOI: 10.1089/Zeb.2017.1450 |
0.185 |
|
| 2022 |
Fortes BH, Tailor PD, Schimmenti LA, Iezzi R. Bilateral Macular Retinoschisis due to Autosomal Recessive Alport Syndrome. Ophthalmology. Retina. PMID 35948208 DOI: 10.1016/j.oret.2022.08.002 |
0.176 |
|
| 2022 |
Stephenson SEM, Costain G, Blok LER, Silk MA, Nguyen TB, Dong X, Alhuzaimi DE, Dowling JJ, Walker S, Amburgey K, Hayeems RZ, Rodan LH, Schwartz MA, Picker J, Lynch SA, ... ... Schimmenti LA, et al. Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome. American Journal of Human Genetics. 109: 601-617. PMID 35395208 DOI: 10.1016/j.ajhg.2022.03.002 |
0.176 |
|
| 2022 |
Zawadzka M, Krygier M, Pawłowicz M, Wilke MVMB, Rutkowska K, Gueguen N, Desquiret-Dumas V, Klee EW, Schimmenti LA, Sławek J, Procaccio V, Płoski R, Mazurkiewicz-Bełdzińska M. Expanding the phenotype of DNAJC30-associated Leigh syndrome. Clinical Genetics. PMID 35861300 DOI: 10.1111/cge.14196 |
0.174 |
|
| 2023 |
Wilke MVMB, Schimmenti L, Lopour MQR, Tollefson MM, Klee EW. A somatic splice-site variant in PIK3R1 in a patient with vascular overgrowth and low immunoglobulin levels: A case report. Molecular Genetics & Genomic Medicine. e2271. PMID 37641480 DOI: 10.1002/mgg3.2271 |
0.169 |
|
| 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 |
0.168 |
|
| 1996 |
Sanyanusin P, Schimmenti LA, McNoe TA, Ward TA, Pierpont ME, Sullivan MJ, Dobyns WB, Eccles MR. Mutation of the gene in a family with optic nerve colobomas, renal anomolies and vesicoureteral reflux. Nature Genetics. 13: 129. PMID 8673093 DOI: 10.1038/ng0596-129 |
0.164 |
|
| 2022 |
Han ST, Kim AC, Garcia K, Schimmenti LA, Macnamara E, Network UD, Gahl WA, Malicdan MC, Tifft CJ. PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation. Molecular Genetics and Metabolism. PMID 35144859 DOI: 10.1016/j.ymgme.2022.01.103 |
0.163 |
|
| 2021 |
Patel MJ, DiStefano MT, Oza AM, Hughes MY, Wilcox EH, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Nara K, Kenna M, et al. Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 34230634 DOI: 10.1038/s41436-021-01254-2 |
0.161 |
|
| 2021 |
Patel MJ, DiStefano MT, Oza AM, Hughes MY, Wilcox EH, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Nara K, Kenna M, et al. Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 34230634 DOI: 10.1038/s41436-021-01254-2 |
0.161 |
|
| 1997 |
Schimmenti LA, Byerly KA, Braddock SR, Eccles MR, Zhang Y, Shim HH. PAX2 mutation in a patient with coloboma-ureteral-renal syndrome. • 623 Pediatric Research. 41: 106-106. DOI: 10.1203/00006450-199704001-00643 |
0.159 |
|
| 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 |
0.159 |
|
| 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 |
0.152 |
|
| 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. Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nature Genetics. 49: 969. PMID 28546579 DOI: 10.1038/ng0617-969c |
0.146 |
|
| 2019 |
Kiessling P, Dowling E, Huang Y, Ho ML, Balakrishnan K, Weigel B, Highsmith WE, Niu Z, Schimmenti LA. Identification of aggressive Gardner syndrome phenotype associated with a de novo APC Variant, c.4666dup. Cold Spring Harbor Molecular Case Studies. PMID 30696621 DOI: 10.1101/mcs.a003640 |
0.144 |
|
| 2023 |
Pinto E Vairo F, Kemppainen JL, Vitek CRR, Whalen DA, Kolbert KJ, Sikkink KJ, Kroc SA, Kruisselbrink T, Shupe GF, Knudson AK, Burke EM, Loftus EC, Bandel LA, Prochnow CA, Mulvihill LA, ... ... Schimmenti LA, et al. Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD). Journal of Translational Medicine. 21: 410. PMID 37353797 DOI: 10.1186/s12967-023-04183-7 |
0.142 |
|
| 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 |
0.138 |
|
| 2021 |
Greenmyer JR, Thompson WS, Hoppman NL, Khan S, Patnaik MS, Schimmenti LA, Kohorst MA. 3q21 deletion affects GATA2 and is associated with myelodysplastic syndrome. British Journal of Haematology. PMID 34651298 DOI: 10.1111/bjh.17902 |
0.132 |
|
| 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 |
0.129 |
|
| 2023 |
Koleilat A, Poling GL, Schimmenti LA, Hasadsri L. The Importance of Mitochondrial Disease Testing in Young Adults With New Onset Sensorineural Hearing Loss. Ear and Hearing. PMID 37930162 DOI: 10.1097/AUD.0000000000001442 |
0.124 |
|
| 2023 |
Asumda FZ, Kraker JA, Thomas SC, Maleszewski J, Stone EM, Lanpher BC, Schimmenti LA. Left-sided valvular heart disease and retinopathy in a 38-year-old woman with attenuated mucopolysaccharidosis: a case report. Therapeutic Advances in Rare Disease. 4: 26330040221145945. PMID 37181073 DOI: 10.1177/26330040221145945 |
0.112 |
|
| 2023 |
Brodsky MC, Olson RJ, Asumda FZ, Lopour MQR, Schimmenti LA, Klee EW. Identification of dominant optic atrophy following reanalysis of clinical exome sequencing. American Journal of Ophthalmology Case Reports. 30: 101825. PMID 36974169 DOI: 10.1016/j.ajoc.2023.101825 |
0.111 |
|
| 2023 |
Riley KC, Koleilat A, Dugdale JA, Cooper SA, Christensen TA, Schimmenti LA. Three-Dimensional Structure of Inner Ear Hair Cell Ribbon Synapses in a Zebrafish Model of Usher Syndrome Type 1B. Zebrafish. 20: 47-54. PMID 37071854 DOI: 10.1089/zeb.2022.0049 |
0.104 |
|
| 2022 |
Lopour MQR, Schimmenti LA, Boczek NJ, Kearney HM, Drack AV, Brodsky MC. Alström syndrome caused by maternal uniparental disomy. American Journal of Ophthalmology Case Reports. 29: 101745. PMID 36636630 DOI: 10.1016/j.ajoc.2022.101745 |
0.102 |
|
| 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. |
0.101 |
|
| 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 |
0.096 |
|
| 2021 |
Beurg M, Schimmenti LA, Koleilat A, Amr SS, Oza A, Barlow A, Ballesteros A, Fettiplace R. New Tmc1 deafness mutations impact mechanotransduction in auditory hair cells. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. PMID 33824189 DOI: 10.1523/JNEUROSCI.2537-20.2021 |
0.093 |
|
| 2022 |
Lopes J, Vidal-Folch N, Lundquist P, Schimmenti LA, Demirel N, Dean V, Olson J, Auth T, Butz M, Reed K, Wylam M, Balcom J, Boczek NJ, Hasadsri L. Aminoglycoside induced ototoxicity risk in the cystic fibrosis population: The utility of large-scale screening. Pediatric Pulmonology. PMID 36437230 DOI: 10.1002/ppul.26259 |
0.092 |
|
| 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. |
0.084 |
|
| 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 |
0.079 |
|
| 2022 |
Happ HC, Sadleir LG, Zemel M, de Valles-Ibáñez G, Hildebrand MS, McConkie-Rosell A, McDonald M, May H, Sands T, Aggarwal V, Elder C, Feyma T, Bayat A, Møller RS, Fenger CD, ... ... Schimmenti LA, et al. Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage Sensing and Pore Domain of KCNH5. Neurology. PMID 36307226 DOI: 10.1212/WNL.0000000000201492 |
0.078 |
|
| 2023 |
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. 25: 100359. PMID 36745126 DOI: 10.1016/j.gim.2022.12.006 |
0.069 |
|
| 2023 |
Chenausky KV, Baas B, Stoeckel R, Brown T, Green JR, Runke C, Schimmenti L, Clark H. Comorbidity and Severity in Childhood Apraxia of Speech: A Retrospective Chart Review. Journal of Speech, Language, and Hearing Research : Jslhr. 1-13. PMID 36795544 DOI: 10.1044/2022_JSLHR-22-00436 |
0.054 |
|
| 1996 |
Schimmenti LA, Winkelmann JC. Erythropoietin receptor (EpoR) fusion partner in TF-1 cells is a novel cDNA expressed in fetal liver Journal of Investigative Medicine. 44: 108A. |
0.05 |
|
| 1995 |
Schimmenti LA, Blechert G, Harris KW, Winkelmann JC. Localization of an essential ligand binding determinant of the human erythropoietin receptor to a domain N-terminal to the WSXWS motif: implications for soluble receptor function. Experimental Hematology. 23: 1341-6. PMID 7498361 |
0.05 |
|
| 2023 |
Kazemi-Butterfield N, Asamoah EM, Little JT, Schimmenti LA, Scruggs BA, Ristagno EH. A Neonate With a Rash. Pediatrics. 152. PMID 37340913 DOI: 10.1542/peds.2022-060571 |
0.048 |
|
| 2020 |
Pierpont EI, Berry SA, Lin AE, Lohr JL, Schimmenti LA, Dobyns WB. Mary Ella Mascia Pierpont: Geneticist, scientist, mentor, friend (1945-2020). American Journal of Medical Genetics. Part A. PMID 33241662 DOI: 10.1002/ajmg.a.61963 |
0.021 |
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