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Select item 13775421.

Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly.

A J Mears, T Jordan, F Mirzayans, S Dubois, T Kume, M Parlee, R Ritch, B Koop, W L Kuo, C Collins, J Marshall, D B Gould, W Pearce, P Carlsson, S Enerbäck, J Morissette, S Bhattacharya, B Hogan, V Raymond, M A Walter

Am J Hum Genet. 1998 Nov; 63(5): 1316–1328. doi: 10.1086/302109

PMCID:: PMC1377542

Summary PDF–1.7M

Select item 17158692.

Identification of the human chromosomal region containing the iridogoniodysgenesis anomaly locus by genomic-mismatch scanning.

F Mirzayans, A J Mears, S W Guo, W G Pearce, M A Walter

Am J Hum Genet. 1997 Jul; 61(1): 111–119. doi: 10.1086/513894

PMCID:: PMC1715869

Summary Page Browse PDF–1.6M

Select item 17344213.

An interstitial deletion of 6p24-p25 proximal to the FKHL7 locus and including AP-2α that affects anterior eye chamber development.

A. Davies, G. Mirza, F. Flinter, J. Ragoussis

J Med Genet. 1999 Sep; 36(9): 708–710.

PMCID:: PMC1734421

Summary PDF–87K

Select item 19148754.

Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25.

A. J. Mears, F. Mirzayans, D. B. Gould, W. G. Pearce, M. A. Walter

Am J Hum Genet. 1996 Dec; 59(6): 1321–1327.

PMCID:: PMC1914875

Summary Page Browse PDF–1.2M

Select item 21991565.

CD19-Regulated Signaling Thresholds Control Peripheral Tolerance and Autoantibody Production in B Lymphocytes

Makoto Inaoki, Shinichi Sato, Bennett C. Weintraub, Christopher C. Goodnow, Thomas F. Tedder

J Exp Med. 1997 Dec 1; 186(11): 1923–1931. doi: 10.1084/jem.186.11.1923

PMCID:: PMC2199156

Abstract Article PDF–135K

Select item 82204076.

Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT)

Chen-Han Wilfred Wu, Nina Mann, Makiko Nakayama, Dervla M. Connaughton, Rufeng Dai, Caroline M. Kolvenbach, Franziska Kause, Isabel Ottlewski, Chunyan Wang, Verena Klämbt, Steve Seltzsam, Ethan W. Lai, Aravind Selvin, Prabha Senguttuva, Olaf Bodamer, Deborah R. Stein, Sherif El Desoky, Jameela A. Kari, Velibor Tasic, Stuart B. Bauer, Shirlee Shril, Friedhelm Hildebrandt

Genet Med. Author manuscript; available in PMC 2021 Jun 23.

Published in final edited form as: Genet Med. 2020 Oct; 22(10): 1673–1681. Published online 2020 Jun 1. doi: 10.1038/s41436-020-0844-z

PMCID:: PMC8220407

Abstract Article PDF–995K

Select item 71180197.

Clinical utility of genetic testing in 201 preschool children with inherited eye disorders

Eva Lenassi, Jill Clayton-Smith, Sofia Douzgou, Simon C. Ramsden, Stuart Ingram, Georgina Hall, Claire L. Hardcastle, Tracy A. Fletcher, Rachel L. Taylor, Jamie M. Ellingford, William D. Newman, Cecilia Fenerty, Vinod Sharma, I. Chris Lloyd, Susmito Biswas, Jane L. Ashworth, Graeme C. Black, Panagiotis I. Sergouniotis

Genet Med. 2020; 22(4): 745–751. Published online 2019 Dec 18. doi: 10.1038/s41436-019-0722-8

Correction in:: Genet Med. 2021; 23(10): 2023.

PMCID:: PMC7118019

Abstract Article PDF–364K

Select item 112316288.

Easing genomic surveillance: A comprehensive performance evaluation of long-read assemblers across multi-strain mixture data of HIV-1 and Other pathogenic viruses for constructing a user-friendly bioinformatic pipeline

Sara Wattanasombat, Siripong Tongjai

Version 1. F1000Res. 2024; 13: 556. Published online 2024 May 31. doi: 10.12688/f1000research.149577.1

PMCID:: PMC11231628

Abstract Article PDF–5.6M

Select item 81443759.

Detecting and phasing minor single-nucleotide variants from long-read sequencing data

Zhixing Feng, Jose C. Clemente, Brandon Wong, Eric E. Schadt

Nat Commun. 2021; 12: 3032. Published online 2021 May 24. doi: 10.1038/s41467-021-23289-4

PMCID:: PMC8144375

Abstract Article PDF–5.3M

Select item 709003010.

Deletion of S-Layer Associated Ig-Like Domain Protein Disrupts the Lactobacillus acidophilus Cell Surface

Courtney Klotz, Yong Jun Goh, Sarah O’Flaherty, Brant Johnson, Rodolphe Barrangou

Front Microbiol. 2020; 11: 345. Published online 2020 Mar 17. doi: 10.3389/fmicb.2020.00345

PMCID:: PMC7090030

Abstract Article PDF–5.4M

Select item 433041011.

Ackerman syndrome: a rare cause of arthritis with dermatitis

Kosar Hussain, Liza Thomas, Niaz Ahmed Shaikh, Badr Ahmed Abdul Hamid

BMJ Case Rep. 2015; 2015: bcr2014207054. Published online 2015 Feb 7. doi: 10.1136/bcr-2014-207054

PMCID:: PMC4330410

Abstract Article PDF–1021K

Select item 451610212.

Interstitial granulomatous dermatitis: rare cutaneous manifestation of rheumatoid arthritis

Isis Suga Veronez, Fernando Luiz Dantas, Neusa Yuriko Valente, Priscila Kakizaki, Thaís Helena Yasuda, Thaís do Amaral Cunha

An Bras Dermatol. 2015 May-Jun; 90(3): 391–393. doi: 10.1590/abd1806-4841.20153263

PMCID:: PMC4516102

Abstract Article PDF–164K

Select item 900794113.

MicroRNA profiles in aqueous humor between pseudoexfoliation glaucoma and normal tension glaucoma patients in a Korean population

Hyun-kyung Cho, Hyemin Seong, Changwon Kee, Dae Hyun Song, Seong Jae Kim, Seong Wook Seo, Sang Soo Kang

Sci Rep. 2022; 12: 6217. Published online 2022 Apr 13. doi: 10.1038/s41598-022-09572-4

PMCID:: PMC9007941

Abstract Article PDF–2.4M

Select item 901202014.

The microbiomes of the eyelid and buccal area of patients with uveitic glaucoma

Jong Hoon Shin, Ji-Woong Lee, Su-Ho Lim, Byung Woo Yoon, Young Lee, Je Hyun Seo

BMC Ophthalmol. 2022; 22: 170. Published online 2022 Apr 14. doi: 10.1186/s12886-022-02395-x

PMCID:: PMC9012020

Abstract Article PDF–2.7M

Select item 900459415.

Biomechanics of the optic nerve head and sclera in canine glaucoma: A brief review

Shin Ae Park, András M. Komáromy

Vet Ophthalmol. Author manuscript; available in PMC 2022 Apr 12.

Published in final edited form as: Vet Ophthalmol. 2021 Jul; 24(4): 316–325. Published online 2021 Aug 17. doi: 10.1111/vop.12923

PMCID:: PMC9004594

Abstract Article PDF–1.0M

Select item 897699016.

Based on multiple machine learning to identify the ENO2 as diagnosis biomarkers of glaucoma

Min Dai, Zhulin Hu, Zefeng Kang, Zhikun Zheng

BMC Ophthalmol. 2022; 22: 155. Published online 2022 Apr 2. doi: 10.1186/s12886-022-02350-w

PMCID:: PMC8976990

Abstract Article PDF–5.3M

Select item 897220117.

EFEMP1 rare variants cause familial juvenile-onset open angle glaucoma

Edward Ryan A. Collantes, Manuel S. Delfin, Jr., Baojian Fan, Justine May R. Torregosa, Christine Siguan-Bell, Nilo Vincent de Guzman Florcruz, Jose Maria D. Martinez, Barbara Joy Masna-Hidalgo, Vincent Paul T. Guzman, Jewel Faith Anotado-Flores, Faye D. Levina, Sophia Raine C. Hernandez, Anthony A. Collantes, Michael Carreon Sibulo, Shisong Rong, Janey L. Wiggs

Hum Mutat. Author manuscript; available in PMC 2023 Feb 1.

Published in final edited form as: Hum Mutat. 2022 Feb; 43(2): 240–252. Published online 2021 Dec 28. doi: 10.1002/humu.24320

Correction in:: Hum Mutat. 2022 May 1

PMCID:: PMC8972201

Abstract Article PDF–638K

Select item 896782718.

Antiviral cytotoxic T lymphocyte responses for long term prognosis of corneal infection by cytomegalovirus in immunocompetent subjects

Ryu Uotani, Dai Miyazaki, Yumiko Shimizu, Fumie Ohtani, Tomoko Haruki, Shin-ichi Sasaki, Ayumi Koyama, Yoshitsugu Inoue, Tatsuo Suzutani

Sci Rep. 2022; 12: 5419. Published online 2022 Mar 30. doi: 10.1038/s41598-022-09312-8

PMCID:: PMC8967827

Abstract Article PDF–2.5M

Select item 896152119.

Advances in Ophthalmic Optogenetics: Approaches and Applications

Philipp P. Prosseda, Matthew Tran, Tia Kowal, Biao Wang, Yang Sun

Biomolecules. 2022 Feb; 12(2): 269. Published online 2022 Feb 8. doi: 10.3390/biom12020269

PMCID:: PMC8961521

Abstract Article PDF–602K

Select item 896127320.

Deletion of transcription factor AP-2β from the developing murine trabecular meshwork region leads to progressive glaucomatous changes

Aftab Taiyab, Monica Akula, Japnit Dham, Paula Deschamps, Heather Sheardown, Trevor Williams, Teresa Borrás, Judith A. West-Mays

J Neurosci Res. Author manuscript; available in PMC 2022 Mar 29.

Published in final edited form as: J Neurosci Res. 2022 Feb; 100(2): 638–652. Published online 2021 Nov 25. doi: 10.1002/jnr.24982

PMCID:: PMC8961273

Abstract Article PDF–2.5M

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