Publications:

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Overcoming the Challenges to Clinical Development of X-Linked Retinitis Pigmentosa Therapies: Proceedings of an Expert Panel.

Translational Vision Science & Technology

Birch, David G DG; Cheetham, Janet K JK; Daiger, Stephen P SP; Hoyng, Carel C; Kay, Christine C; MacDonald, Ian M IM; Pennesi, Mark E ME; Sullivan, Lori S LS

Publication Date: 2023-06-01

Variant appearance in text: RPGRIP1L: R744Q

PubMed Link: 37294701

Variant Present in the following documents:

• Main text
• tvst-12-6-5.pdf

View BVdb publication page

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: RPGRIP1L: R744Q

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: RPGRIP1L: R744Q; rs2302677

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy.

Orphanet Journal Of Rare Diseases

Georgiou, Michalis M; Ali, Naser N; Yang, Elizabeth E; Grewal, Parampal S PS; Rotsos, Tryfon T; Pontikos, Nikolas N; Robson, Anthony G AG; Michaelides, Michel M

Publication Date: 2021-03-12

Variant appearance in text: RPGRIP1L: R744Q

PubMed Link: 33712029

Variant Present in the following documents:

• Main text
• 13023_2021_Article_1759.pdf

View BVdb publication page

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A synergetic effect of BARD1 mutations on tumorigenesis.

Nature Communications

Li, Wenjing W; Gu, Xiaoyang X; Liu, Chunhong C; Shi, Yanyan Y; Wang, Pan P; Zhang, Na N; Wu, Rui R; Leng, Liang L; Xie, Bingteng B; Song, Chen C; Li, Mo M

Publication Date: 2021-02-23

Variant appearance in text: RPGRIP1L: R744Q; rs2302677

PubMed Link: 33623049

Variant Present in the following documents:

• 41467_2021_21519_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Overlapping variants in the blood, tissues and cell lines for patients with intracranial meningiomas are predominant in stem cell-related genes.

Heliyon

Hussein, Deema D; Dallol, Ashraf A; Quintas, Rita R; Schulten, Hans-Juergen HJ; Alomari, Mona M; Baeesa, Saleh S; Bangash, Mohammed M; Alghamdi, Fahad F; Khan, Ishaq I; ElAssouli, M-Zaki Mustafa MM; Saka, Mohamad M; Carracedo, Angel A; Chaudhary, Adeel A; Abuzenadah, Adel A

Publication Date: 2020-11

Variant appearance in text: RPGRIP1L: 2231G>A; Arg744Gln

PubMed Link: 33305042

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: RPGRIP1L: R744Q; rs2302677

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Screening study for genetic polymorphisms affecting pharmacokinetics of talniflumate.

Translational And Clinical Pharmacology

Jin, Li Hua LH; Kim, Bo-Hyung BH; Lee, Ji Hyun JH; Lee, Kidong K; Kwack, KyuBum K; Yim, Sung-Vin SV

Publication Date: 2017-12

Variant appearance in text: rs2302677

PubMed Link: 32095470

Variant Present in the following documents:

• Main text
• tcp-25-166.pdf

View BVdb publication page

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X-Chromosome Inactivation Is a Biomarker of Clinical Severity in Female Carriers of RPGR-Associated X-Linked Retinitis Pigmentosa.

Ophthalmology. Retina

Fahim, Abigail T AT; Sullivan, Lori S LS; Bowne, Sara J SJ; Jones, Kaylie D KD; Wheaton, Dianna K H DKH; Khan, Naheed W NW; Heckenlively, John R JR; Jayasundera, K Thiran KT; Branham, Kari H KH; Andrews, Chris A CA; Othman, Mohammad I MI; Karoukis, Athanasios J AJ; Birch, David G DG; Daiger, Stephen P SP

Publication Date: 2020-05

Variant appearance in text: RPGRIP1L: R744Q

PubMed Link: 31953110

Variant Present in the following documents:

• Main text

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: RPGRIP1L: 2231G>A; Arg744Gln

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: RPGRIP1L: R744Q

PubMed Link: 30784590

Variant Present in the following documents:

• mmc6.xlsx, sheet 1

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: RPGRIP1L: 2231G>A; Arg744Gln; rs2302677

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: RPGRIP1L: 2231G>A; R744Q; rs2302677

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 4

View BVdb publication page

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Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.

Oncotarget

Kürschner, Gerrit G; Zhang, Qingzhou Q; Clima, Rosanna R; Xiao, Yi Y; Busch, Jonas Felix JF; Kilic, Ergin E; Jung, Klaus K; Berndt, Nikolaus N; Bulik, Sascha S; Holzhütter, Hermann-Georg HG; Gasparre, Giuseppe G; Attimonelli, Marcella M; Babu, Mohan M; Meierhofer, David D

Publication Date: 2017-12-01

Variant appearance in text: RPGRIP1L: R744Q

PubMed Link: 29285300

Variant Present in the following documents:

• oncotarget-08-105882-s002.xlsx, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: RPGRIP1L: 2231G>A; Arg744Gln

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Photoreceptor Cilia and Retinal Ciliopathies.

Cold Spring Harbor Perspectives In Biology

Bujakowska, Kinga M KM; Liu, Qin Q; Pierce, Eric A EA

Publication Date: 2017-10-03

Variant appearance in text: RPGRIP1L: Arg744Gln

PubMed Link: 28289063

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.

Investigative Ophthalmology & Visual Science

Roberts, Lisa L; Ratnapriya, Rinki R; du Plessis, Morné M; Chaitankar, Vijender V; Ramesar, Raj S RS; Swaroop, Anand A

Publication Date: 2016-11-01

Variant appearance in text: RPGRIP1L: R744Q

PubMed Link: 27898983

Variant Present in the following documents:

• iovs-57-14-17_s03.xlsx, sheet 1

View BVdb publication page

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The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Oncotarget

Lim, Chul-Hyun CH; Cho, Yu Kyung YK; Kim, Sang Woo SW; Choi, Myung-Gyu MG; Rhee, Je-Keun JK; Chung, Yeun-Jun YJ; Lee, Sug-Hyung SH; Kim, Tae-Min TM

Publication Date: 2016-06-28

Variant appearance in text: RPGRIP1L: R744Q

PubMed Link: 27175599

Variant Present in the following documents:

• oncotarget-07-39758-s006.xlsx, sheet 1

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: MKS5: R744Q; rs2302677

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.

Plos One

Yang, Liping L; Cui, Hui H; Yin, Xiaobei X; Dou, Hongliang H; Zhao, Lin L; Chen, Ningning N; Zhang, Jinlu J; Zhang, Huirong H; Li, Genlin G; Ma, Zhizhong Z

Publication Date: 2015

Variant appearance in text: RPGRIP1L: 2231G>A; R744Q; rs2302677

PubMed Link: 26496393

Variant Present in the following documents:

• pone.0140684.s004.xlsx, sheet 5
• pone.0140684.s004.xlsx, sheet 4
• pone.0140684.s004.xlsx, sheet 2

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: RPGRIP1L: R744Q

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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Genetic modifiers and oligogenic inheritance.

Cold Spring Harbor Perspectives In Medicine

Kousi, Maria M; Katsanis, Nicholas N

Publication Date: 2015-06-01

Variant appearance in text: RPGRIP1L: R744Q

PubMed Link: 26033081

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: RPGRIP1L: R744Q; rs2302677

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: RPGRIP1L: R744Q; rs2302677

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One

Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P

Publication Date: 2014

Variant appearance in text: RPGRIP1L: R744Q

PubMed Link: 25333361

Variant Present in the following documents:

• pone.0109576.s003.xls, sheet 3

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: RPGRIP1L: R744Q; rs2302677

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: RPGRIP1L: R744Q; rs2302677

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD3.xlsx, sheet 1

View BVdb publication page

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Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Human Genetics

Cooper, David N DN; Krawczak, Michael M; Polychronakos, Constantin C; Tyler-Smith, Chris C; Kehrer-Sawatzki, Hildegard H

Publication Date: 2013-10

Variant appearance in text: rs2302677

PubMed Link: 23820649

Variant Present in the following documents:

• Main text
• 439_2013_Article_1331.pdf

View BVdb publication page

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Polymorphic variation of RPGRIP1L and IQCB1 as modifiers of X-linked retinitis pigmentosa caused by mutations in RPGR.

Advances In Experimental Medicine And Biology

Fahim, Abigail T AT; Bowne, Sara J SJ; Sullivan, Lori S LS; Webb, Kaylie D KD; Williams, Jessica T JT; Wheaton, Dianna K DK; Birch, David G DG; Daiger, Stephen P SP

Publication Date: 2012

Variant appearance in text: RPGRIP1L: R744Q; rs2302677

PubMed Link: 22183348

Variant Present in the following documents:

• Main text

View BVdb publication page

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Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations.

Plos One

Fahim, Abigail T AT; Bowne, Sara J SJ; Sullivan, Lori S LS; Webb, Kaylie D KD; Williams, Jessica T JT; Wheaton, Dianna K DK; Birch, David G DG; Daiger, Stephen P SP

Publication Date: 2011

Variant appearance in text: RPGRIP1L: R744Q; rs2302677

PubMed Link: 21857984

Variant Present in the following documents:

• Main text
• pone.0023021.pdf

View BVdb publication page

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RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.

Clinical Genetics

Brancati, F F; Travaglini, L L; Zablocka, D D; Boltshauser, E E; Accorsi, P P; Montagna, G G; Silhavy, J L JL; Barrano, G G; Bertini, E E; Emma, F F; Rigoli, L L; , ; Dallapiccola, B B; Gleeson, J G JG; Valente, E M EM

Publication Date: 2008-08

Variant appearance in text: RPGRIP1L: R744Q; rs2302677

PubMed Link: 18565097

Variant Present in the following documents:

• Main text

View BVdb publication page

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