Publications

  1. Lin AE, Scimone ER, Thom RP, Balaguru D, Kinane TB, Moschovis PP, Cohen MS, Tan W, Hague CD, Dannheim K, Levitsky LL, Lilly E, DiGiacomo DV, Masse KM, Kadzielski SM, Zar-Kessler CA, Ginns LC, Neumeyer AM, Colvin MK, Elder JS, Learn CP, Mou H, Weagle KM, Buch KA, Butler WE, Alhadid K, Musolino PL, Sultana S, Bandyopadhyay D, Rapalino O, Peacock ZS, Chou EL, Heidary G, Dorfman AT, Morris SA, Bergin JD, Rayment JH, Schimmenti LA, Lindsay ME, MGH Myhre Syndrome Study Group. Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023). Am J Med Genet A. 2024 May 23; e63638 [Epub ahead of print]
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  2. Kraker JA, Stander Z, Oglesbee D, Schimmenti LA, Chen JJ. Lost in the Sauce: An Atypical Cause of Optic Neuropathy. J Neuroophthalmol. 2024 May 14 [Epub ahead of print]
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  3. 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, Klee EW. Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld-Rieger Syndrome. Am J Med Genet A. 2024 May; 194 (5):e63542 Epub 2024 Jan 17
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  4. Ferrer A, Duffy P, Olson RJ, Meiners MA, Schultz-Rogers L, Macke EL, Safgren S, Morales-Rosado JA, Cousin MA, Oliver GR, Rider D, Williams M, Pichurin PN, Deyle DR, Morava E, Gavrilova RH, Dhamija R, Wierenga KJ, Lanpher BC, Babovic-Vuksanovic D, Kaiwar C, Vitek CR, McAllister TM, Wick MJ, Schimmenti LA, Lazaridis KN, Vairo FPE, Klee EW. Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data. Hum Genet. 2024 May; 143 (5):649-666 Epub 2024 Mar 27
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  5. 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, Thomas B, Gable DM, Graddy CB, Garzon GGM, Ekpoh IU, Porquera EMC, Fervenza FC, Hogan MC, El Ters M, Warrington KJ, Davis JM 3rd, Koster MJ, Orandi AB, Basiaga ML, Vella A, Kumar S, Creo AL, Lteif AN, Pittock ST, Tebben PJ, Abate EG, Joshi AY, Ristagno EH, Patnaik MS, Schimmenti LA, Dhamija R, Sabrowsky SM, Wierenga KJ, Keddis MT, Samadder NJJ, Presutti RJ, Robinson SI, Stephens MC, Roberts LR, Faubion WA Jr, Driscoll SW, Wong-Kisiel LC, Selcen D, Flanagan EP, Ramanan VK, Jackson LM, Mauermann ML, Ortega VE, Anderson SA, Aoudia SL, Klee EW, McAllister TM, Lazaridis KN. Correction: Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD). J Transl Med. 2024 Apr 30; 22 (1):400
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  6. 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. Mol Genet Genomic Med. 2023 Dec; 11 (12):e2271 Epub 2023 Aug 28
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  7. Koleilat A, Poling GL, Schimmenti LA, Hasadsri L. The Importance of Mitochondrial Disease Testing in Young Adults With New Onset Sensorineural Hearing Loss. Ear Hear. 2023 Nov 6 Epub 2023 Nov 06
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  8. Kazemi-Butterfield N, Asamoah EM, Little JT, Schimmenti LA, Scruggs BA, Ristagno EH. A Neonate With a Rash. Pediatrics. 2023 Jul 1; 152 (1)
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  9. 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, Thomas B, Gable DM, Graddy CB, Garzon GGM, Ekpoh IU, Porquera EMC, Fervenza FC, Hogan MC, El Ters M, Warrington KJ, Davis JM 3rd, Koster MJ, Orandi AB, Basiaga ML, Vella A, Kumar S, Creo AL, Lteif AN, Pittock ST, Tebben PJ, Abate EG, Joshi AY, Ristagno EH, Patnaik MS, Schimmenti LA, Dhamija R, Sabrowsky SM, Wierenga KJ, Keddis MT, Samadder NJJ, Presutti RJ, Robinson SI, Stephens MC, Roberts LR, Faubion WA Jr, Driscoll SW, Wong-Kisiel LC, Selcen D, Flanagan EP, Ramanan VK, Jackson LM, Mauermann ML, Ortega VE, Anderson SA, Aoudia SL, Klee EW, McAllister TM, Lazaridis KN. Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD). J Transl Med. 2023 Jun 23; 21 (1):410 Epub 2023 June 23
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  10. Brodsky MC, Olson RJ, Asumda FZ, Lopour MQR, Schimmenti LA, Klee EW. Identification of AFG3L2 dominant optic atrophy following reanalysis of clinical exome sequencing. Am J Ophthalmol Case Rep. 2023 Jun; 30:101825 Epub 2023 Mar 08
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  11. Riley KC Jr, 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. 2023 Apr; 20 (2):47-54
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  12. 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. J Speech Lang Hear Res. 2023 Mar 07; 66(3):791-803. Epub 2023 Feb 16.
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  13. 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. Pediatr Pulmonol. 2023 Mar; 58(3):819-824. Epub 2022 Dec 20.
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  14. Lopour MQR, Schimmenti LA, Boczek NJ, Kearney HM, Drack AV, Brodsky MC. Alstrom syndrome caused by maternal uniparental disomy. Am J Ophthalmol Case Rep. 2023 Mar; 29:101745 Epub 2022 Dec 31
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  15. Happ HC, Sadleir LG, Zemel M, de Valles-Ibanez G, Hildebrand MS, McConkie-Rosell A, McDonald M, May H, Sands T, Aggarwal V, Elder C, Feyma T, Bayat A, Moller RS, Fenger CD, Klint Nielsen JE, Datta AN, Gorman KM, King MD, Linhares ND, Burton BK, Paras A, Ellard S, Rankin J, Shukla A, Majethia P, Olson RJ, Muthusamy K, Schimmenti LA, Starnes K, Sedlackova L, Sterbova K, Vlckova M, Lassuthova P, Jahodova A, Porter BE, Couque N, Colin E, Prouteau C, Collet C, Smol T, Caumes R, Vansenne F, Bisulli F, Licchetta L, Person R, Torti E, McWalter K, Webster R, Gerard EE, Lesca G, Szepetowski P, Scheffer IE, Mefford HC, Carvill GL. Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5. Neurology. 2023 Feb 7; 100 (6):e603-e615 Epub 2022 Oct 28
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  16. 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. 2023 Feb; 25 (2):100359
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  17. 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. Ther Adv Rare Dis. 2023 Jan-Dec; 4:26330040221145945 Epub 2023 Jan 12
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  18. Kazemi-Butterfield N, Asamoah EM, Little JT, Schimmenti LA, Scruggs BA, Ristagno EH. A neonate with a rash. Pediatrics. 2023; 152 (1):e2022060571
  19. Fortes BH, Tailor PD, Schimmenti LA, Iezzi R. Bilateral Macular Retinoschisis Caused by Autosomal Recessive Alport Syndrome. Ophthalmol Retina. 2022 Dec; 6(12):1260-1262. Epub 2022 Aug 07.
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  20. Zawadzka M, Krygier M, Pawlowicz M, Wilke MVMB, Rutkowska K, Gueguen N, Desquiret-Dumas V, Klee EW, Schimmenti LA, Slawek J, Procaccio V, Ploski R, Mazurkiewicz-Beldzinska M. Expanding the phenotype of DNAJC30-associated Leigh syndrome. Clin Genet. 2022 Nov; 102 (5):438-443 Epub 2022 July 29
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  21. Shah SM, Schimmenti LA, Chiang J, Iezzi R. ASSOCIATION OF PIGMENTED PARAVENOUS RETINOCHOROIDAL ATROPHY WITH A PATHOGENIC VARIANT IN THE HK1 GENE. Retin Cases Brief Rep. 2022 Nov 01; 16(6):770-774.
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  22. 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, Shikany AR, Terhal PA, Nicole Weaver K, Wessels MW, van Wieringen H, Hurst AC, Gooch CF, Steindl K, Joset P, Rauch A, Tartaglia M, Niceta M, Elgersma Y, Demirdas S. The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations. Hum Mutat. 2022 Oct; 43 (10):1377-1395 Epub 2022 July 29
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  23. 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, Gupta A, Rasmussen KJ, Schimmenti LA, Klee EW, Niu Z, Agre KE, Chilton I, Chung WK, Revah-Politi A, Au PYB, Griffith C, Racobaldo M, Raas-Rothschild A, Ben Zeev B, Barel O, Moutton S, Morice-Picard F, Carmignac V, Cornaton J, Marle N, Devinsky O, Stimach C, Wechsler SB, Hainline BE, Sapp K, Willems M, Bruel AL, Dias KR, Evans CA, Roscioli T, Sachdev R, Temple SEL, Zhu Y, Baker JJ, Scheffer IE, Gardiner FJ, Schneider AL, Muir AM, Mefford HC, Crunk A, Heise EM, Millan F, Monaghan KG, Person R, Rhodes L, Richards S, Wentzensen IM, Cogne B, Isidor B, Nizon M, Vincent M, Besnard T, Piton A, Marcelis C, Kato K, Koyama N, Ogi T, Goh ES, Richmond C, Amor DJ, Boyce JO, Morgan AT, Hildebrand MS, Kaspi A, Bahlo M, Friethriksdottir R, Katrinardottir H, Sulem P, Stefansson K, Bjornsson HT, Mandelstam S, Morleo M, Mariani M, Scala M, Accogli A, Torella A, Capra V, Wallis M, Jansen S, Weisfisz Q, de Haan H, Sadedin S, Lim SC, White SM, Ascher DB, Schenck A, Lockhart PJ, Christodoulou J, Tan TY, TUDP Study Group//Broad Center for Mendelian Genomics. Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome. Am J Hum Genet. 2022 Apr 7; 109 (4):601-617
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  24. 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. Mol Genet Metab. 2022 Mar; 135 (3):221-229 Epub 2022 Feb 01
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  25. 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. Am J Med Genet A. 2022 Mar; 188 (3):919-925 Epub 2021 Nov 19
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  26. Greenmyer JR, Thompson WS, Hoppman NL, Khan S, Patnaik MS, Schimmenti LA, Kohorst MA. 3q21 deletion affects GATA2 and is associated with myelodysplastic syndrome. Br J Haematol 2022 Feb; 196 (4):1120-1123 Epub 2021 Oct 14
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  27. 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 Nov; 23 (11):2208-2212 Epub 2021 July 06
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  28. 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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  29. 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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  30. 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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  31. 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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  32. 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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  33. 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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  34. 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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  35. 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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  36. 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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  37. 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.
  38. Koleilat A, Schimmenti LA, Poling GL. Current Approaches to the Management of Usher Syndrome for the Clinician ASHA Perspectives, SIG6. 2020.
  39. Ichino N, Serres MR, Urban RM, Urban MD, Treichel AJ, Schaefbauer KJ, Tallant 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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  40. 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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  41. 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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  42. 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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  43. Brodsky MC, Schimmenti L, Iezzi R. The Best Retinitis Pigmentosa Masquerade. Ophthalmology. 2019 Dec; 126 (12):1694
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  44. 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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  45. 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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  46. 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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  47. 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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  48. 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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  49. 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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  50. 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.
  51. 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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  52. 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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  53. 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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  54. 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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  55. 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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  56. Schimmenti LA. Zebrafish and the Cancer Moonshot. Zebrafish. 2017 Aug; 14 (4):390-392 Epub 2017 June 01
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  57. 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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  58. 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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  59. Schimmenti LA. Keep Swimming Toward Precision Medicine Discoveries. Zebrafish. 2016 Dec; 13 (6):545-547 Epub 2016 Nov 09
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  60. 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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  61. 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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  62. 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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  64. 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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  67. Zimmerman R, Schimmenti LA, Spector L. A Catalog of Genetic Syndromes in Childhood Cancer. Wiley Periodicals, Inc..
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  69. 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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  73. 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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  77. 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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  79. 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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  80. 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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  81. 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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  82. 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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  84. 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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  86. 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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  87. 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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  88. 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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  89. 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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  90. 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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  95. 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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  97. 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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  98. 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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  102. 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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  104. 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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  105. 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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  106. 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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  107. 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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  108. 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.
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  109. 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.
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  110. 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.
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  113. 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.
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  114. 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.
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  115. 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.
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  116. Eccles MR, Schimmenti LA. Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations. Clin Genet. 1999 Jul; 56(1):1-9.
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  118. 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.
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  119. 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
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  120. 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.
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  121. 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.
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  122. 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.
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  124. 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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  125. 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.
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  126. 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
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  127. 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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