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Items: 1 to 50 of 76

1.

PAX2-Related Disorder.

Bower MA, Schimmenti LA, Eccles MR.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2007 Jun 8 [updated 2018 Feb 8].

2.

Analysis of archived newborn dried blood spots (DBS) identifies congenital cytomegalovirus as a major cause of unexplained pediatric sensorineural hearing loss.

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.

Am J Otolaryngol. 2017 Sep - Oct;38(5):565-570. doi: 10.1016/j.amjoto.2017.06.002. Epub 2017 Jun 7.

PMID:
28629849
3.

Zebrafish and the Cancer Moonshot.

Schimmenti LA.

Zebrafish. 2017 Aug;14(4):390-392. doi: 10.1089/zeb.2017.1450. Epub 2017 Jun 1. No abstract available.

PMID:
28570143
4.

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

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, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer 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.

Nat Genet. 2017 May 26;49(6):969. doi: 10.1038/ng0617-969c. No abstract available.

PMID:
28546579
5.

Bilateral Labyrinthine and Internal Auditory Canal Enhancement in an Infant With Severe Labyrinthine Dysplasia: A Previously Unreported Phenomenon.

Anzalone CL, Ho ML, Patel NS, Schimmenti LA, DeJong MD, Carlson ML.

Otol Neurotol. 2017 Jun;38(5):e21-e25. doi: 10.1097/MAO.0000000000001392.

PMID:
28346292
6.

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

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, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer 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.

Nat Genet. 2017 Feb;49(2):238-248. doi: 10.1038/ng.3743. Epub 2017 Jan 9. Erratum in: Nat Genet. 2017 May 26;49(6):969.

7.

Keep Swimming Toward Precision Medicine Discoveries.

Schimmenti LA.

Zebrafish. 2016 Dec;13(6):545-547. Epub 2016 Nov 9. No abstract available. Erratum in: Zebrafish. 2017 Apr;14 (2):195.

PMID:
27828765
8.

Additive reductions in zebrafish PRPS1 activity result in a spectrum of deficiencies modeling several human PRPS1-associated diseases.

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.

Sci Rep. 2016 Jul 18;6:29946. doi: 10.1038/srep29946.

9.

Zebrafish: A Functional Refuge at the End of an Odyssey.

Schimmenti LA.

Zebrafish. 2016 Jun;13(3):236-8. doi: 10.1089/zeb.2016.29005.sch. Epub 2016 Apr 14. No abstract available.

10.

Bosma arhinia microphthalmia syndrome: Clinical report and review of the literature.

Brasseur B, Martin CM, Cayci Z, Burmeister L, Schimmenti LA.

Am J Med Genet A. 2016 May;170A(5):1302-7. doi: 10.1002/ajmg.a.37572. Epub 2016 Feb 3.

PMID:
26842768
11.

Posterior staphyloma in oculocutaneous albinism: another possible cause of reduced visual acuity.

Lee S, Schimmenti LA, King RA, Brilliant M, Anderson JL, Schoonveld C, Summers CG.

J AAPOS. 2015 Dec;19(6):562-4. doi: 10.1016/j.jaapos.2015.06.009.

12.

A Catalog of Genetic Syndromes in Childhood Cancer.

Zimmerman R, Schimmenti L, Spector L.

Pediatr Blood Cancer. 2015 Dec;62(12):2071-5. doi: 10.1002/pbc.25726. Epub 2015 Aug 27. Review.

PMID:
26312571
13.

Mosaic partial deletion of PTPN12 in a child with interrupted aortic arch type A.

Duffy EA, Pretorius PR, Lerach S, Lohr JL, Hirsch B, Souza CM, Veillette A, Schimmenti LA.

Am J Med Genet A. 2015 Nov;167A(11):2674-83. doi: 10.1002/ajmg.a.37279. Epub 2015 Aug 6.

PMID:
26250342
14.

Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening.

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.

Genet Med. 2016 Feb;18(2):162-7. doi: 10.1038/gim.2015.45. Epub 2015 Apr 9.

PMID:
25856670
15.

Nonhatching Decapsulated Artemia Cysts As a Replacement to Artemia Nauplii in Juvenile and Adult Zebrafish Culture.

Tye M, Rider D, Duffy EA, Seubert A, Lothert B, Schimmenti LA.

Zebrafish. 2015 Dec;12(6):457-61. doi: 10.1089/zeb.2014.1031. Epub 2014 Dec 11.

PMID:
25495227
16.

Hermansky-Pudlak syndrome (HPS5) in a nonagenarian.

Summers CG, Schimmenti LA, Sperber S.

J AAPOS. 2014 Apr;18(2):209-10. doi: 10.1016/j.jaapos.2014.02.002. No abstract available.

PMID:
24698632
17.

The unique association of iris heterochromia with Hermansky Pudlak syndrome.

Summers CG, Schimmenti LA.

J AAPOS. 2014 Apr;18(2):209. doi: 10.1016/j.jaapos.2014.02.003. No abstract available.

PMID:
24698630
18.

The unique association of iris heterochromia with Hermansky-Pudlak syndrome.

Radke P, Schimmenti LA, Schoonveld C, Bothun ED, Summers CG.

J AAPOS. 2013 Oct;17(5):542-4. doi: 10.1016/j.jaapos.2013.05.012. Epub 2013 Sep 17.

PMID:
24054038
19.

Detection of PAX2 deletions and duplications using multiplex ligation-dependent probe amplification.

Karger AB, Wilson JD, Bower M, Schimmenti LA, Thyagarajan B.

Genet Test Mol Biomarkers. 2013 Oct;17(10):786-8. doi: 10.1089/gtmb.2013.0176. Epub 2013 Jun 11.

PMID:
23756089
20.

Hermansky-Pudlak syndrome (HPS5) in a nonagenarian.

Ringeisen AL, Schimmenti LA, White JG, Schoonveld C, Summers CG.

J AAPOS. 2013 Jun;17(3):334-6. doi: 10.1016/j.jaapos.2013.02.002. Epub 2013 Apr 19.

PMID:
23607980
21.

Typical renal-coloboma syndrome phenotype in a patient with a submicroscopic deletion of the PAX2 gene.

Laimutis K, Jackson C, Xu X, Warman B, Sarunas R, Andriuskeviciute I, Birute P, Schimmenti LA, Raca G.

Am J Med Genet A. 2012 Jun;158A(6):1437-41. doi: 10.1002/ajmg.a.35342. Epub 2012 May 11.

22.

The lineage-specific gene ponzr1 is essential for zebrafish pronephric and pharyngeal arch development.

Bedell VM, Person AD, Larson JD, McLoon A, Balciunas D, Clark KJ, Neff KI, Nelson KE, Bill BR, Schimmenti LA, Beiraghi S, Ekker SC.

Development. 2012 Feb;139(4):793-804. doi: 10.1242/dev.071720.

23.

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.

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, Morinière 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.

Hum Mutat. 2012 Mar;33(3):457-66. doi: 10.1002/humu.22020. Epub 2012 Jan 31.

PMID:
22213154
24.

Axenfeld-Rieger syndrome: new perspectives.

Chang TC, Summers CG, Schimmenti LA, Grajewski AL.

Br J Ophthalmol. 2012 Mar;96(3):318-22. doi: 10.1136/bjophthalmol-2011-300801. Epub 2011 Dec 23. Review.

PMID:
22199394
25.

Evaluation of newborn screening bloodspot-based genetic testing as second tier screen for bedside newborn hearing screening.

Schimmenti LA, Warman B, Schleiss MR, Daly KA, Ross JA, McCann M, Jurek AM, Berry SA.

Genet Med. 2011 Dec;13(12):1006-10. doi: 10.1097/GIM.0b013e318226fc2e.

PMID:
21912263
26.

Renal coloboma syndrome.

Schimmenti LA.

Eur J Hum Genet. 2011 Dec;19(12):1207-12. doi: 10.1038/ejhg.2011.102. Epub 2011 Jun 8. Review.

27.

Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases.

Hills CB, Kochilas L, Schimmenti LA, Moller JH.

Pediatr Cardiol. 2011 Oct;32(7):977-82. doi: 10.1007/s00246-011-0006-9. Epub 2011 May 1.

PMID:
21533779
28.

Clinical utility gene card for: renal coloboma (Papillorenal) syndrome.

Bower M, Eccles M, Heidet L, Schimmenti LA.

Eur J Hum Genet. 2011 Sep;19(9). doi: 10.1038/ejhg.2011.16. Epub 2011 Feb 16. No abstract available.

29.

Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma.

Raca G, Jackson CA, Kucinskas L, Warman B, Shieh JT, Schneider A, Bardakjian TM, Schimmenti LA.

Genet Med. 2011 May;13(5):437-42. doi: 10.1097/GIM.0b013e318204cfd2.

30.

A novel microdeletion/microduplication syndrome of 19p13.13.

Dolan M, Mendelsohn NJ, Pierpont ME, Schimmenti LA, Berry SA, Hirsch B.

Genet Med. 2010 Aug;12(8):503-11. doi: 10.1097/GIM.0b013e3181e59291.

PMID:
20613546
31.

Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometry.

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.

J Pediatr. 2010 Aug;157(2):271-5. doi: 10.1016/j.jpeds.2010.02.027. Epub 2010 Apr 14.

PMID:
20394947
32.

Next generation sequencing in research and diagnostics of ocular birth defects.

Raca G, Jackson C, Warman B, Bair T, Schimmenti LA.

Mol Genet Metab. 2010 Jun;100(2):184-92. doi: 10.1016/j.ymgme.2010.03.004. Epub 2010 Mar 15.

33.

TLR9 polymorphisms are associated with altered IFN-gamma levels in children with cerebral malaria.

Sam-Agudu NA, Greene JA, Opoka RO, Kazura JW, Boivin MJ, Zimmerman PA, Riedesel MA, Bergemann TL, Schimmenti LA, John CC.

Am J Trop Med Hyg. 2010 Apr;82(4):548-55. doi: 10.4269/ajtmh.2010.09-0467.

34.

Cardiac conduction improvement in two heterozygotes for primary carnitine deficiency on L-carnitine supplementation.

Sarafoglou K, Tridgell AH, Bentler K, Redlinger-Grosse K, Berry SA, Schimmenti LA.

Clin Genet. 2010 Aug;78(2):191-4. doi: 10.1111/j.1399-0004.2009.01368.x. Epub 2010 Jan 4.

PMID:
20095986
35.

Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1.

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.

Mol Syndromol. 2010;1(5):262-271. Epub 2011 May 18.

36.

WNT5A mutations in patients with autosomal dominant Robinow syndrome.

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.

Dev Dyn. 2010 Jan;239(1):327-37. doi: 10.1002/dvdy.22156.

37.

Detection of cytomegalovirus DNA in dried blood spots of Minnesota infants who do not pass newborn hearing screening.

Choi KY, Schimmenti LA, Jurek AM, Sharon B, Daly K, Khan C, McCann M, Schleiss MR.

Pediatr Infect Dis J. 2009 Dec;28(12):1095-8. doi: 10.1097/INF.0b013e3181af6230.

PMID:
19820425
38.

Parents' perceptions of autism spectrum disorder etiology and recurrence risk and effects of their perceptions on family planning: Recommendations for genetic counselors.

Selkirk CG, McCarthy Veach P, Lian F, Schimmenti L, LeRoy BS.

J Genet Couns. 2009 Oct;18(5):507-19. doi: 10.1007/s10897-009-9233-0. Epub 2009 Jun 2.

PMID:
19488842
39.

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.

Palmer CG, Martinez A, Fox M, Zhou J, Shapiro N, Sininger Y, Grody WW, Schimmenti LA.

Am J Med Genet A. 2009 Jun;149A(6):1169-82. doi: 10.1002/ajmg.a.32853.

40.

A primer for morpholino use in zebrafish.

Bill BR, Petzold AM, Clark KJ, Schimmenti LA, Ekker SC.

Zebrafish. 2009 Mar;6(1):69-77. doi: 10.1089/zeb.2008.0555. Review.

41.

Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters.

Schneider A, Bardakjian TM, Zhou J, Hughes N, Keep R, Dorsainville D, Kherani F, Katowitz J, Schimmenti LA, Hummel M, Fitzpatrick DR, Young TL.

Am J Med Genet A. 2008 Nov 1;146A(21):2794-8. doi: 10.1002/ajmg.a.32384.

42.

Development and Notch signaling requirements of the zebrafish choroid plexus.

Bill BR, Balciunas D, McCarra JA, Young ED, Xiong T, Spahn AM, Garcia-Lecea M, Korzh V, Ekker SC, Schimmenti LA.

PLoS One. 2008 Sep 3;3(9):e3114. doi: 10.1371/journal.pone.0003114.

43.

Severe methylenetetrahydrofolate reductase (MTHFR) deficiency: a case report of nonclassical homocystinuria.

Bishop L, Kanoff R, Charnas L, Krenzel C, Berry SA, Schimmenti LA.

J Child Neurol. 2008 Jul;23(7):823-8. doi: 10.1177/0883073808315410.

PMID:
18658082
44.

Infant hearing loss and connexin testing in a diverse population.

Schimmenti LA, Martinez A, Telatar M, Lai CH, Shapiro N, Fox M, Warman B, McCarra M, Crandall B, Sininger Y, Grody WW, Palmer CG.

Genet Med. 2008 Jul;10(7):517-24. doi: 10.1097GIM.0b013e31817708fa.

PMID:
18580690
45.

Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia.

Zhou J, Kherani F, Bardakjian TM, Katowitz J, Hughes N, Schimmenti LA, Schneider A, Young TL.

Mol Vis. 2008 Mar 24;14:583-92.

46.

Intrachromosomal duplications of 22q11 are not a common cause of isolated coloboma and coloboma with other limited features of cat eye syndrome.

Raca G, Schimmenti L, Martin CL.

Am J Med Genet A. 2008 Feb 1;146A(3):401-4. doi: 10.1002/ajmg.a.32130. No abstract available.

PMID:
18203172
47.

Ethnic differences in parental perceptions of genetic testing for deaf infants.

Palmer CG, Martinez A, Fox M, Sininger Y, Grody WW, Schimmenti LA.

J Genet Couns. 2008 Feb;17(1):129-38. Epub 2007 Oct 19.

PMID:
17952575
48.

Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities.

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.

Am J Hum Genet. 2007 May;80(5):938-47. Epub 2007 Mar 20.

49.

Sharing GJB2/GJB6 genetic test information with family members.

Blase T, Martinez A, Grody WW, Schimmenti L, Palmer CG.

J Genet Couns. 2007 Jun;16(3):313-24. Epub 2007 Feb 23.

PMID:
17318457
50.

Genome-wide reverse genetics framework to identify novel functions of the vertebrate secretome.

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.

PLoS One. 2006 Dec 20;1:e104.

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