Publications:

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: RPGRIP1: 3341A>G; Asp1114Gly

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Identifying two pathogenic variants in a patient with pigmented paravenous retinochoroidal atrophy.

Open Life Sciences

Liu, Zeyuan Z; Wang, He H; He, Xiaoli X; Tao, Dan D; Li, Li L

Publication Date: 2023

Variant appearance in text: RPGRIP1: 3341A>G

PubMed Link: 36713053

Variant Present in the following documents:

• Main text
• biol-2022-0532.pdf

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: RPGRIP1: D1114G; rs17103671

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Whole-Exome Sequencing in the Isolated Populations of Cilento from South Italy.

Scientific Reports

Nutile, T T; Ruggiero, D D; Herzig, A F AF; Tirozzi, A A; Nappo, S S; Sorice, R R; Marangio, F F; Bellenguez, C C; Leutenegger, A L AL; Ciullo, M M

Publication Date: 2019-03-11

Variant appearance in text: rs17103671

PubMed Link: 30858532

Variant Present in the following documents:

• Main text
• 41598_2019_Article_41022.pdf

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: RPGRIP1: D1114G; rs17103671

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.

Clinical Ophthalmology (Auckland, N.Z.)

Bryant, Laura L; Lozynska, Olga O; Maguire, Albert M AM; Aleman, Tomas S TS; Bennett, Jean J

Publication Date: 2018

Variant appearance in text: RPGRIP1: 3341A>G; Asp1114Gly; rs17103671

PubMed Link: 29343940

Variant Present in the following documents:

• Main text
• opth-12-049.pdf

View BVdb publication page

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Assessing risk for Mendelian disorders in a Bronx population.

Molecular Genetics & Genomic Medicine

diSibio, Guy G; Upadhyay, Kinnari K; Meyer, Philip P; Oddoux, Carole C; Ostrer, Harry H

Publication Date: 2017-09

Variant appearance in text: RPGRIP1: 3341A>G; Asp1114Gly; rs17103671

PubMed Link: 28944235

Variant Present in the following documents:

• MGG3-5-516-s001.xlsx, sheet 1
• MGG3-5-516.pdf

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: RPGRIP1: 3341A>G; Asp1114Gly

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: LCA6: D1114G; rs17103671

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: RPGRIP1: D1114G

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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: rs17103671

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

View BVdb publication page

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Structural and functional plasticity of subcellular tethering, targeting and processing of RPGRIP1 by RPGR isoforms.

Biology Open

Patil, Hemangi H; Guruju, Mallikarjuna R MR; Cho, Kyoung-In KI; Yi, Haiqing H; Orry, Andrew A; Kim, Hyesung H; Ferreira, Paulo A PA

Publication Date: 2012-02-15

Variant appearance in text: RPGRIP1: D1114G

PubMed Link: 23213406

Variant Present in the following documents:

• Main text

View BVdb publication page

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Selective loss of RPGRIP1-dependent ciliary targeting of NPHP4, RPGR and SDCCAG8 underlies the degeneration of photoreceptor neurons.

Cell Death & Disease

Patil, H H; Tserentsoodol, N N; Saha, A A; Hao, Y Y; Webb, M M; Ferreira, P A PA

Publication Date: 2012-07-19

Variant appearance in text: RPGRIP1: D1114G

PubMed Link: 22825473

Variant Present in the following documents:

• Main text
• cddis201296a.pdf

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: RPGRIP1: D1114G

PubMed Link: 21857984

Variant Present in the following documents:

• Main text
• pone.0023021.pdf

View BVdb publication page

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Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis.

Human Genetics

Wiszniewski, Wojciech W; Lewis, Richard Alan RA; Stockton, David W DW; Peng, Jianlan J; Mardon, Graeme G; Chen, Rui R; Lupski, James R JR

Publication Date: 2011-03

Variant appearance in text: RPGRIP1: 3341A>G; D1114G

PubMed Link: 21153841

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.

Human Mutation

Coppieters, Frauke F; Casteels, Ingele I; Meire, Françoise F; De Jaegere, Sarah S; Hooghe, Sally S; van Regemorter, Nicole N; Van Esch, Hilde H; Matuleviciene, Ausra A; Nunes, Luis L; Meersschaut, Valérie V; Walraedt, Sophie S; Standaert, Lieve L; Coucke, Paul P; Hoeben, Heidi H; Kroes, Hester Y HY; Vande Walle, Johan J; de Ravel, Thomy T; Leroy, Bart P BP; De Baere, Elfride E

Publication Date: 2010-10

Variant appearance in text: RPGRIP1: 3341A>G; Asp1114Gly

PubMed Link: 20683928

Variant Present in the following documents:

• Main text
• humu0031-E1709.pdf

View BVdb publication page

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Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanisms.

Human Molecular Genetics

Ferreira, Paulo A PA

Publication Date: 2005-10-15

Variant appearance in text: RPGRIP1: D1114G

PubMed Link: 16244324

Variant Present in the following documents:

• Main text

View BVdb publication page

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Limited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosis.

Human Molecular Genetics

Lu, Xinrong X; Guruju, Mallikarjuna M; Oswald, John J; Ferreira, Paulo A PA

Publication Date: 2005-05-15

Variant appearance in text: RPGRIP1: D1114G

PubMed Link: 15800011

Variant Present in the following documents:

• Main text

View BVdb publication page

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