PubMed (RefSeq) for id: 767981067

Year	Number of Results
1993	2
2000	3
2001	3
2002	2
2003	1
2004	2
2005	5
2006	1
2007	2
2009	1
2011	4
2012	2
2013	3
2014	8
2015	3
2016	4
2017	2
2018	5
2019	2
2020	2
2021	4
2023	2
2024	0

1

RPGRIP1-related retinal disease presenting as isolated cone dysfunction.

Khan AO. Khan AO. Ophthalmic Genet. 2023 Dec;44(6):595-597. doi: 10.1080/13816810.2023.2175224. Epub 2023 Feb 10. Ophthalmic Genet. 2023. PMID: 36762997

2

Protein interaction landscapes revealed by advanced in vivo cross-linking-mass spectrometry.

Wheat A, Yu C, Wang X, Burke AM, Chemmama IE, Kaake RM, Baker P, Rychnovsky SD, Yang J, Huang L. Wheat A, et al. Proc Natl Acad Sci U S A. 2021 Aug 10;118(32):e2023360118. doi: 10.1073/pnas.2023360118. Proc Natl Acad Sci U S A. 2021. PMID: 34349018 Free PMC article.

3

Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China.

Zhu L, Ouyang W, Zhang M, Wang H, Li S, Meng X, Yin ZQ. Zhu L, et al. Ophthalmic Genet. 2021 Aug;42(4):392-401. doi: 10.1080/13816810.2021.1904417. Epub 2021 May 10. Ophthalmic Genet. 2021. PMID: 33970760

4

Noncoding mutation in RPGRIP1 contributes to inherited retinal degenerations.

Zou G, Zhang T, Cheng X, Igelman AD, Wang J, Qian X, Fu S, Wang K, Koenekoop RK, Fishman GA, Yang P, Li Y, Pennesi ME, Chen R. Zou G, et al. Mol Vis. 2021 Mar 18;27:95-106. eCollection 2021. Mol Vis. 2021. PMID: 33907365 Free PMC article.

5

Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort.

Perrault I, Hanein S, Gérard X, Mounguengue N, Bouyakoub R, Zarhrate M, Fourrage C, Jabot-Hanin F, Bocquet B, Meunier I, Zanlonghi X, Kaplan J, Rozet JM. Perrault I, et al. Genes (Basel). 2021 Feb 18;12(2):287. doi: 10.3390/genes12020287. Genes (Basel). 2021. PMID: 33670832 Free PMC article.

6

Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients.

Sallum JMF, Motta FL, Arno G, Porto FBO, Resende RG, Belfort R Jr. Sallum JMF, et al. Am J Med Genet C Semin Med Genet. 2020 Sep;184(3):728-752. doi: 10.1002/ajmg.c.31828. Epub 2020 Aug 31. Am J Med Genet C Semin Med Genet. 2020. PMID: 32865313

7

AMPK Interactome Reveals New Function in Non-homologous End Joining DNA Repair.

Chen Z, Wang C, Jain A, Srivastava M, Tang M, Zhang H, Feng X, Nie L, Su D, Xiong Y, Jung SY, Qin J, Chen J. Chen Z, et al. Mol Cell Proteomics. 2020 Mar;19(3):467-477. doi: 10.1074/mcp.RA119.001794. Epub 2020 Jan 3. Mol Cell Proteomics. 2020. PMID: 31900314 Free PMC article.

8

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD, Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG, Yu H. Fragoza R, et al. Nat Commun. 2019 Sep 12;10(1):4141. doi: 10.1038/s41467-019-11959-3. Nat Commun. 2019. PMID: 31515488 Free PMC article.

9

Thumb duplication: molecular analysis of different clinical types.

Kyriazis Z, Kollia P, Grivea I, Varitimidis SE, Constantoulakis P, Dailiana ZH. Kyriazis Z, et al. Eur J Orthop Surg Traumatol. 2019 Feb;29(2):421-426. doi: 10.1007/s00590-018-2343-3. Epub 2018 Nov 29. Eur J Orthop Surg Traumatol. 2019. PMID: 30498907

10

Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview.

Kumaran N, Pennesi ME, Yang P, Trzupek KM, Schlechter C, Moore AT, Weleber RG, Michaelides M. Kumaran N, et al. 2018 Oct 4 [updated 2023 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2018 Oct 4 [updated 2023 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 30285347 Free Books & Documents. Review.

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