Publications

  1. 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, Azaiez H, Booth KT, Avraham KB, Kremer H, Griffith AJ, Rehm HL, Amr SS, Tayoun ANA, ClinGen Hearing Loss Clinical Domain Working Group. Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss. Genet Med. 2021 Jul 6 Epub 2021 July 06
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  2. Shah SM, Schimmenti LA, Marmorstein AD, Bakri SJ. ADULT-ONSET VITELLIFORM MACULAR DYSTROPHY SECONDARY TO A NOVEL IMPG2 GENE VARIANT. Retin Cases Brief Rep. 2021 Jul 1; 15 (4):356-358
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  3. Beurg M, Schimmenti LA, Koleilat A, Amr SS, Oza A, Barlow AJ, Ballesteros A, Fettiplace R. New Tmc1 Deafness Mutations Impact Mechanotransduction in Auditory Hair Cells. J Neurosci. 2021 May 19; 41 (20):4378-4391 Epub 2021 Apr 06
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  4. 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, Gupta A, Blackburn PR, Boczek NJ, Prochnow CA, Lowy RJ, Mulvihill LA, McAllister TM, Aoudia SL, Kruisselbrink TM, Gunderson LB, Kemppainen JL, Fisher LJ, Tarnowski JM, Hager MM, Kroc SA, Bertsch NL, Agre KE, Jackson JL, Macklin-Mantia SK, Murphree MI, Rust LM, Summer Bolster JM, Beck SA, Atwal PS, Ellingson MS, Barnett SS, Rasmussen KJ, Lahner CA, Niu Z, Hasadsri L, Ferber MJ, Marcou CA, Clark KJ, Pichurin PN, Deyle DR, Morava-Kozicz E, Gavrilova RH, Dhamija R, Wierenga KJ, Lanpher BC, Babovic-Vuksanovic D, Farrugia G, Schimmenti LA, Stewart AK, Lazaridis KN. Impact of integrated translational research on clinical exome sequencing. Genet Med. 2021 Mar; 23 (3):498-507 Epub 2020 Nov 04
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  5. Pierpont EI, Berry SA, Lin AE, Lohr JL, Schimmenti LA, Dobyns WB. Mary Ella Mascia Pierpont: Geneticist, scientist, mentor, friend (1945-2020). Am J Med Genet A. 2021 Feb; 185 (2):319-323 Epub 2020 Nov 26
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  6. 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. Am J Med Genet A. 2021 Jan; 185 (1):261-266 Epub 2020 Oct 24
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  7. Koleilat A, Argue DP, Schimmenti LA, Ekker SC, Poling GL. The GoAudio Quantitative Mobile Audiology Test Enhances Access to Clinical Hearing Assessments. Am J Audiol. 2020 Dec 9; 29 (4):887-897 Epub 2020 Oct 20
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  8. 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. Ann Otol Rhinol Laryngol. 2020 Dec; 129 (12):1243-1246 Epub 2020 June 09
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  9. 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. Dis Model Mech. 2020 Nov 27; 13 (11)
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  10. Shah SM, Schimmenti LA, Chiang J, Iezzi R. Association of pigmented paravenous retinochoroidal atrophy (PPRCA) with a pathogenic variant in the HK1 gene. Retin Cases Brief Rep. 2020 Nov 4 Epub 2020 Nov 04
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  11. Koleilat A, Driscoll CW, Schimmenti LA, Poling GL. Emerging Therapies and Approaches to Treat and Prevent Hearing Loss Perspectives of the ASHA Special Interest Groups, SIG6. 2020.
  12. 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. Am J Med Genet A. 2020 Oct; 182(10):2442-2449. Epub 2020 Aug 20.
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  13. Koleilat A, Schimmenti LA, Poling GL. Current Approaches to the Management of Usher Syndrome for the Clinician ASHA Perspectives, SIG6. 2020.
  14. 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, Liu W, Anderson JL, Wishman MD, Sabharwal A, Schimmenti LA, Sivasubbu S, Balciunas D, Hammerschmidt M, Farber SA, Wen XY, Xu X, McGrail M, Essner JJ, Burgess SM, Clark KJ, Ekker SC. Building the vertebrate codex using the gene breaking protein trap library. Elife. 2020 Aug 11; 9
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  15. Wilton KM, Gunderson LB, Hasadsri L, Wood CP, Schimmenti LA. Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta. Mol Genet Genomic Med. 2020 May; 8 (5):e1211 Epub 2020 Mar 11
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  16. 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. J Appl Lab Med. 2020 May 1; 5 (3):467-479
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  17. 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. Mol Genet Genomic Med. 2020 Feb; 8 (2):e1081 Epub 2019 Dec 09
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  18. Brodsky MC, Schimmenti L, Iezzi R. The Best Retinitis Pigmentosa Masquerade. Ophthalmology. 2019 Dec; 126 (12):1694
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  19. 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, Tekin M, Rehm HL, Tayoun ANA, Amr SS, ClinGen Hearing Loss Clinical Domain Working Group. Correction: ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs. Genet Med. 2019 Oct; 21 (10):2409
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  20. 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, Tekin M, Rehm HL, Tayoun ANA, Amr SS, ClinGen Hearing Loss Clinical Domain Working Group. ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs. Genet Med. 2019 Oct; 21 (10):2239-2247 Epub 2019 Mar 21
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  21. Blackburn PR, Zepeda-Mendoza CJ, Kruisselbrink TM, Schimmenti LA, Garcia-Minaur 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. Eur J Hum Genet. 2019 Sep; 27 (9):1379-1388 Epub 2019 May 03
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  22. Kiessling P, Dowling E, Huang Y, Ho ML, Balakrishnan K, Weigel BJ, Highsmith WE Jr, Niu Z, Schimmenti LA. Identification of aggressive Gardner syndrome phenotype associated with a de novo APC variant, c.4666dup. Cold Spring Harb Mol Case Stud. 2019 Apr; 5 (2) Epub 2019 Apr 01
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  23. 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: Providing Realistic and Adaptive Skills for Early-Career Scientists. Acad Med. 2019 Feb; 94 (2):213-216
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  24. 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. J Neurol Surg B Skull Base. 2019 Feb; 80 (1):10-17 Epub 2018 May 31
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  25. Kiessling P, Dowling E, Huang Y, Ho ML, Balakrishnan K, Weigel BJ, Schimmenti LA. Identification of aggressive Gardner syndrome phenotype associated with a de novo FAP Variant European Journal of Medical Genetics. 2019.
  26. Riche R, Liao M, Pena IA, Leung KY, Lepage N, Greene NDE, Sarafoglou K, Schimmenti LA, Drapeau P, Samarut E. Glycine decarboxylase deficiency-induced motor dysfunction in zebrafish is rescued by counterbalancing glycine synaptic level. JCI Insight. 2018 Nov 2; 3 (21) Epub 2018 Nov 02
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  27. 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, Azaiez H, Griffith A, Avraham KB, Kremer H, Rehm HL, Amr SS, Abou Tayoun AN, ClinGen Hearing Loss Clinical Domain Working Group. Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss. Hum Mutat. 2018 Nov; 39 (11):1593-1613
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  28. 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. Otol Neurotol. 2018 Oct; 39 (9):e860-e871
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  29. 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. Mol Syndromol. 2018 May; 9 (3):141-148 Epub 2018 Apr 28
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  30. 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. Am J Otolaryngol. 2017 Sep - Oct; 38 (5):565-570 Epub 2017 June 07
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  31. Schimmenti LA. Zebrafish and the Cancer Moonshot. Zebrafish. 2017 Aug; 14 (4):390-392 Epub 2017 June 01
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  32. 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. Otol Neurotol. 2017 Jun; 38 (5):e21-e25
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  33. 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, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, Garcia-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Muhlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM Jr, Lin AE, Katsanis N, Jones PL, Crowley WF Jr, Davis EE, FitzPatrick DR, Talkowski ME. SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet. 2017 Feb; 49 (2):238-248 Epub 2017 Jan 09
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  34. Schimmenti LA. Keep Swimming Toward Precision Medicine Discoveries. Zebrafish. 2016 Dec; 13 (6):545-547 Epub 2016 Nov 09
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  35. 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. Sci Rep. 2016 Jul 18; 6:29946 Epub 2016 July 18
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  36. Schimmenti LA. Zebrafish: A Functional Refuge at the End of an Odyssey. Zebrafish. 2016 Jun; 13 (3):236-8 Epub 2016 Apr 14
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  37. Brasseur B, Martin CM, Cayci Z, Burmeister L, Schimmenti LA. Bosma arhina microphthalmia syndrome: Clinical report and review of the literature. Am J Med Genet A. 2016 Feb 3;
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  38. 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, Rinaldo P, Gavrilov D. Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening. Genet Med. 2016 Feb; 18 (2):162-7 Epub 2015 Apr 09
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  39. 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. 2015 Dec; 12(6):457-61. Epub 2014 Dec 11.
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  40. 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. J AAPOS. 2015 Dec; 19: (6)562-4.
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  41. 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. Am J Med Genet A. 2015 Nov; 167A: (11)2674-83.
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  42. Zimmerman R, Schimmenti LA, Spector L. A Catalog of Genetic Syndromes in Childhood Cancer. Wiley Periodicals, Inc..
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  43. Radke P, Schimmenti LA, Schoonveld C, Bothun ED, Summers CG. The unique association of iris heterochromia with Hermansky-Pudlak syndrome. J AAPOS. 2013 Oct; 17(5):542-4. Epub 2013 Sep 17
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  44. Karger AB, Wilson JD, Bower M, Schimmenti LA, Thyagarajan B. Detection of PAX2 deletions and duplications using multiplex ligation-dependent probe amplification. Genet Test Mol Biomarkers. 2013 Oct; 17(10):786-8. Epub 2013 Jun 11
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  45. Ringeisen AL, Schimmenti LA, White JG, Schoonveld C, Summers CG. Hermansky-Pudlak syndrome (HPS5) in a nonagenarian. J AAPOS. 2013 Jun; 17(3):334-6. Epub 2013 Apr 19
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  46. 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. Am J Med Genet A. 2012 Jun; 158A(6):1437-41. Epub 2012 May 11
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  47. Chang TC, Summers CG, Schimmenti LA, Grajewski AL. Axenfeld-Rieger syndrome: new perspectives. Br J Ophthalmol. 2012 Mar; 96(3):318-22. Epub 2011 Dec 23.
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  48. 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, Hunter A, Johnson K, Kumar R, Lavocat MP, Martin L, Moriniere V, Mowat D, Murer L, Nguyen HT, Peretz-Amit G, Pierce E, Place E, Rodig N, Salerno A, Sastry S, Sato T, Sayer JA, Schaafsma GC, Shoemaker L, Stockton DW, Tan WH, Tenconi R, Vanhille P, Vats A, Wang X, Warman B, Weleber RG, White SM, Wilson-Brackett C, Zand DJ, Eccles M, Schimmenti LA, Heidet L. Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database. Hum Mutat. 2012 Mar; 33(3):457-66. Epub 2012 Jan 31
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  49. 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. 2012 Feb; 139 (4):793-804
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  50. Schimmenti LA. Renal coloboma syndrome. Eur J Hum Genet. 2011 Dec; 19(12):1207-12. Epub 2011 Jun 08.
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  51. 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. Genet Med. 2011 Dec; 13(12):1006-10.
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  52. Hills CB, Kochilas L, Schimmenti LA, Moller JH. Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases. Pediatr Cardiol. 2011 Oct; 32(7):977-82. Epub 2011 May 1
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  53. Bower M, Eccles M, Heidet L, Schimmenti LA. Clinical utility gene card for: renal coloboma (Papillorenal) syndrome. Eur J Hum Genet. 2011 Sep; 19(9). Epub 2011 Feb 16.
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  54. 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. Genet Med. 2011 May; 13(5):437-42.
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  55. 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. J Pediatr. 2010 Aug; 157: (2)271-5.
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  56. 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. Clin Genet. 2010 Aug; 78(2):191-4. Epub 2010 Jan 04.
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  57. Dolan M, Mendelsohn NJ, Pierpont ME, Schimmenti LA, Berry SA, Hirsch B. A novel microdeletion/microduplication syndrome of 19p13.13. Genet Med. 2010 Aug; 12(8):503-11.
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  58. Raca G, Jackson C, Warman B, Bair T, Schimmenti LA. Next generation sequencing in research and diagnostics of ocular birth defects. Mol Genet Metab. 2010 Jun; 100(2):184-92. Epub 2010 Mar 15
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  59. 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. Am J Trop Med Hyg. 2010 Apr; 82(4):548-55.
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  60. 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, Pagon R, Lucas A, Brasington CK, Spence JE, Sparks S, Banks V, Smith W, Friedberg T, Wyatt PR, Aust M, Tervo R, Crowley A, Skidmore D, Lamb AN, Ravnan B, Sahoo T, Schultz R, Torchia BS, Sgro M, Chitayat D, Shaffer LG. Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1. Mol Syndromol. 2010; 1(5):262-71. Epub 2011 May 18
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  61. Person AD, Beiraghi S, Sieben CM, Hermanson S, Neumann AN, Robu ME, Schleiffarth JR, Billington CJ Jr, van Bokhoven H, Hoogeboom JM, Mazzeu JF, Petryk A, Schimmenti LA, Brunner HG, Ekker SC, Lohr JL. WNT5A mutations in patients with autosomal dominant Robinow syndrome. Dev Dyn. 2010 Jan; 239: (1)327-37.
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  62. 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. Pediatr Infect Dis J. 2009 Dec; 28(12):1095-8.
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  63. 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. J Genet Couns. 2009 Oct; 18(5):507-19. Epub 2009 Jun 02.
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  64. 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. Am J Med Genet A. 2009 Jun; 149A(6):1169-82.
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  65. Bill BR, Petzold AM, Clark KJ, Schimmenti LA, Ekker SC. A primer for morpholino use in zebrafish. Zebrafish. 2009 Mar; 6: (1)69-77.
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  66. Schimmenti LA. Genetic and developmental basis of renal coloboma (papillorenal) syndrome. Expert Review in Ophthalmology. 2009; 4:135-44.
  67. 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. Am J Med Genet A. 2008 Nov 1; 146A(21):2794-8.
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  68. Bishop L, Kanoff R, Charnas L, Krenzel C, Berry SA, Schimmenti LA. Severe methylenetetrahydrofolate reductase (MTHFR) deficiency: a case report of nonclassical homocystinuria. J Child Neurol. 2008 Jul; 23(7):823-8.
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  69. 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. Genet Med. 2008 Jul; 10(7):517-24.
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  70. 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. Am J Med Genet A. 2008 Feb 1; 146A(3):401-4.
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  71. Palmer CG, Martinez A, Fox M, Sininger Y, Grody WW, Schimmenti LA. Ethnic differences in parental perceptions of genetic testing for deaf infants. J Genet Couns. 2008 Feb; 17(1):129-38. Epub 2007 Oct 19.
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  72. 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. 2008; 3(9):e3114. Epub 2008 Sep 03.
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  73. 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. Mol Vis. 2008; 14:583-92. Epub 2008 Mar 24.
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  74. 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, Selleck SB. Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities. Am J Hum Genet. 2007 May; 80(5):938-47. Epub 2007 Mar 20.
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  75. 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, Longo N. Expanded newborn screening identifies maternal primary carnitine deficiency. Mol Genet Metab. 2007 Apr; 90: (4)441-5.
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  76. Schimmenti LA. Renal coloboma syndrome in: GeneReviews at GeneTests: Medical genetics information resource University of Washington, Seattle.;().
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  77. 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, Hammerschmidt M, Farber SA, Ekker SC. Genome-wide reverse genetics framework to identify novel functions of the vertebrate secretome. PLoS One. 2006; 1:e104. Epub 2006 Dec 20.
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  78. Palmer CG, Martinez A, Sininger Y, Shapiro N, Grody WW, Schimmenti LA. Prelingual siblings of children with GJB2 hearing loss: issues to consider. Arch Otolaryngol Head Neck Surg. 2005 Nov; 131(11):1020-2.
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  79. 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. Clin Dysmorphol. 2005 Oct; 14(4):183-7.
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  80. 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. Genet Med. 2004 Nov-Dec; 6(6):521-5.
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  81. 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, Murphy RT, McKenna W, Elliott P, Bowles NE, Chen J, Valle G, Towbin JA. Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. J Am Coll Cardiol. 2003 Dec 3; 42(11):2014-27.
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  82. 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 Genet. 2003 Dec; 24(4):191-202.
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  83. Taub PJ, Bradley JP, Setoguchi Y, Schimmenti L, Kawamoto HK Jr. Typical facial clefting and constriction band anomalies: an unusual association in three unrelated patients. Am J Med Genet A. 2003 Jul 15; 120A(2):256-60.
    View PubMed
  84. Martinez A, Linden J, Schimmenti LA, Palmer CG. Attitudes of the broader hearing, deaf, and hard-of-hearing community toward genetic testing for deafness. Genet Med. 2003 Mar-Apr; 5(2):106-12.
    View PubMed
  85. 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. Am J Med Genet A. 2003 Jan 30; 116A(3):215-21.
    View PubMed
  86. 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. The Volta Review. 2003; 103:371-90.
  87. 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. Am J Med Genet. 2002 Jul 22; 111(1):27-30.
    View PubMed
  88. Chung GW, Edwards AO, Schimmenti LA, Manligas GS, Zhang YH, Ritter R 3rd. Renal-coloboma syndrome: report of a novel PAX2 gene mutation. Am J Ophthalmol. 2001 Dec; 132(6):910-4.
    View PubMed
  89. Gelb A, Manligas G, Gharaybeh S, Schimmenti L. Identification of two novel polymorphisms (g.903C>T and g.1544C>T) in the PAX2 gene. Hum Mutat. 2001 Feb; 17(2):155.
    View PubMed
  90. Shim HH, Nakamura BN, Cantor RM, Schimmenti LA. Identification of two single nucleotide polymorphisms in exon 8 of PAX2. Mol Genet Metab. 1999 Dec; 68(4):507-10.
    View PubMed
  91. Eccles MR, Schimmenti LA. Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations. Clin Genet. 1999 Jul; 56(1):1-9.
    View PubMed
  92. 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. Hum Mutat. 1999; 14(5):369-76.
    View PubMed
  93. 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. Am J Hum Genet. 1997 Apr; 60(4):869-78.
    View PubMed
  94. 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. Nat Genet. 1996 May; 13 (1):129
    View PubMed
  95. 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. Exp Hematol. 1995 Dec; 23(13):1341-6.
    View PubMed
  96. Schimmenti LA, Pierpont ME, Carpenter BL, Kashtan CE, Johnson MR, Dobyns WB. Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies. Am J Med Genet. 1995 Nov 6; 59(2):204-8.
    View PubMed
  97. 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. Am J Med Genet. 1995 May 22; 57(1):52-6.
    View PubMed
  98. 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. Nat Genet. 1995 Apr; 9(4):358-64.
    View PubMed
  99. Winkelmann JC, Ward J, Mayeux P, Lacombe C, Schimmenti L, Jenkins RB. A translocated erythropoietin receptor gene in a human erythroleukemia cell line (TF-1) expresses an abnormal transcript and a truncated protein. Blood. 1995 Jan 1; 85(1):179-85.
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  100. Schimmenti LA, Berry SA, Tuchman M, Hirsch B. Infant with multiple congenital anomalies and deletion (9)(q34.3). Am J Med Genet. 1994 Jun 1; 51(2):140-2.
    View PubMed
  101. 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. Hum Mutat. 1994; 3 (1):37-43
    View PubMed
  102. Schimmenti LA, Yan HC, Madri JA, Albelda SM. Platelet endothelial cell adhesion molecule, PECAM-1, modulates cell migration. J Cell Physiol. 1992 Nov; 153(2):417-28.
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