Publications:

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Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort.

International Journal Of Molecular Sciences

Zobor, Ditta D; Brühwiler, Britta B; Zrenner, Eberhart E; Weisschuh, Nicole N; Kohl, Susanne S

Publication Date: 2023-05-17

Variant appearance in text: AIPL1: 834G>A; Trp278Ter

PubMed Link: 37240262

Variant Present in the following documents:

• ijms-24-08915.pdf

View BVdb publication page

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The genetic landscape of inherited retinal dystrophies in Arabs.

Bmc Medical Genomics

Jaffal, Lama L; Joumaa, Hawraa H; Noureldine, Jinane J; Banjak, Malak M; Ibrahim, Mariam M; Mrad, Zamzam Z; Salami, Ali A; Shamieh, Said El SE

Publication Date: 2023-05-01

Variant appearance in text: AIPL1: 834G>A; Trp278*

PubMed Link: 37127645

Variant Present in the following documents:

• 12920_2023_1518_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.

Human Molecular Genetics

Wilson, Kate K; Newbury, Dianne F DF; Kini, Usha U

Publication Date: 2023-04-03

Variant appearance in text: AIPL1: 834G>A; Trp278Ter

PubMed Link: 37010288

Variant Present in the following documents:

• supptables_hmg-2022-ce-00520-r1_wilson_without_id_ddad023.xlsx, sheet 5

View BVdb publication page

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Retinal Organoids from an AIPL1 CRISPR/Cas9 Knockout Cell Line Successfully Recapitulate the Molecular Features of LCA4 Disease.

International Journal Of Molecular Sciences

Perdigão, Pedro R L PRL; Ollington, Bethany B; Sai, Hali H; Leung, Amy A; Sacristan-Reviriego, Almudena A; van der Spuy, Jacqueline J

Publication Date: 2023-03-21

Variant appearance in text: AIPL1: 834G>A

PubMed Link: 36982987

Variant Present in the following documents:

• Main text
• ijms-24-05912.pdf

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: AIPL1: 834G>A; Trp278Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

Frontiers In Cell And Developmental Biology

Panneman, Daan M DM; Hitti-Malin, Rebekkah J RJ; Holtes, Lara K LK; de Bruijn, Suzanne E SE; Reurink, Janine J; Boonen, Erica G M EGM; Khan, Muhammad Imran MI; Ali, Manir M; Andréasson, Sten S; De Baere, Elfride E; Banfi, Sandro S; Bauwens, Miriam M; Ben-Yosef, Tamar T; Bocquet, Béatrice B; De Bruyne, Marieke M; de la Cerda, Berta B; Coppieters, Frauke F; Farinelli, Pietro P; Guignard, Thomas T; Inglehearn, Chris F CF; Karali, Marianthi M; Kjellström, Ulrika U; Koenekoop, Robert R; de Koning, Bart B; Leroy, Bart P BP; McKibbin, Martin M; Meunier, Isabelle I; Nikopoulos, Konstantinos K; Nishiguchi, Koji M KM; Poulter, James A JA; Rivolta, Carlo C; Rodríguez de la Rúa, Enrique E; Saunders, Patrick P; Simonelli, Francesca F; Tatour, Yasmin Y; Testa, Francesco F; Thiadens, Alberta A H J AAHJ; Toomes, Carmel C; Tracewska, Anna M AM; Tran, Hoai Viet HV; Ushida, Hiroaki H; Vaclavik, Veronika V; Verhoeven, Virginie J M VJM; van de Vorst, Maartje M; Gilissen, Christian C; Hoischen, Alexander A; Cremers, Frans P M FPM; Roosing, Susanne S

Publication Date: 2023

Variant appearance in text: AIPL1: 834G>A; Trp278*

PubMed Link: 36819107

Variant Present in the following documents:

• Table4.xlsx, sheet 1

View BVdb publication page

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A Tet-Inducible CRISPR Platform for High-Fidelity Editing of Human Pluripotent Stem Cells.

Genes

Jurlina, Shawna L SL; Jones, Melissa K MK; Agarwal, Devansh D; De La Toba, Diana V DV; Kambli, Netra N; Su, Fei F; Martin, Heather M HM; Anderson, Ryan R; Wong, Ryan M RM; Seid, Justin J; Attaluri, Saisantosh V SV; Chow, Melissa M; Wahlin, Karl J KJ

Publication Date: 2022-12-14

Variant appearance in text: AIPL1: W278X

PubMed Link: 36553630

Variant Present in the following documents:

• genes-13-02363.pdf

View BVdb publication page

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Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.

Scientific Reports

Karali, Marianthi M; Testa, Francesco F; Di Iorio, Valentina V; Torella, Annalaura A; Zeuli, Roberta R; Scarpato, Margherita M; Romano, Francesca F; Onore, Maria Elena ME; Pizzo, Mariateresa M; Melillo, Paolo P; Brunetti-Pierri, Raffaella R; Passerini, Ilaria I; Pelo, Elisabetta E; Cremers, Frans P M FPM; Esposito, Gabriella G; Nigro, Vincenzo V; Simonelli, Francesca F; Banfi, Sandro S

Publication Date: 2022-12-02

Variant appearance in text: AIPL1: 834G>A; Trp278*

PubMed Link: 36460718

Variant Present in the following documents:

• 41598_2022_24636_MOESM2_ESM.xlsx, sheet 1
• 41598_2022_Article_24636.pdf

View BVdb publication page

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Identification of numerous novel disease-causing variants in patients with inherited retinal diseases, combining careful clinical-functional phenotyping with systematic, broad NGS panel-based genotyping.

Molecular Vision

Gupta, Priya R PR; Kheir, Wajiha W; Peng, Bo B; Duan, Jie J; Chiang, John P-W JP; Iannaccone, Alessandro A

Publication Date: 2022

Variant appearance in text: AIPL1: 834G>A; Trp278Ter

PubMed Link: 36284670

Variant Present in the following documents:

• Main text
• mv-v28-203.pdf

View BVdb publication page

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Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.

Human Mutation

Hitti-Malin, Rebekkah J RJ; Dhaenens, Claire-Marie CM; Panneman, Daan M DM; Corradi, Zelia Z; Khan, Mubeen M; den Hollander, Anneke I AI; Farrar, G Jane GJ; Gilissen, Christian C; Hoischen, Alexander A; van de Vorst, Maartje M; Bults, Femke F; Boonen, Erica G M EGM; Saunders, Patrick P; , ; Roosing, Susanne S; Cremers, Frans P M FPM

Publication Date: 2022-10-19

Variant appearance in text: AIPL1: 834G>A; Trp278*

PubMed Link: 36259723

Variant Present in the following documents:

• HUMU-43-2234-s014.xlsx, sheet 1
• HUMU-43-2234-s006.xlsx, sheet 1

View BVdb publication page

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Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals.

Frontiers In Genetics

Maltese, Paolo Enrico PE; Colombo, Leonardo L; Martella, Salvatore S; Rossetti, Luca L; El Shamieh, Said S; Sinibaldi, Lorenzo L; Passarelli, Chiara C; Coppè, Andrea Maria AM; Buzzonetti, Luca L; Falsini, Benedetto B; Chiurazzi, Pietro P; Placidi, Giorgio G; Tanzi, Benedetta B; Bertelli, Matteo M; Iarossi, Giancarlo G

Publication Date: 2022

Variant appearance in text: AIPL1: 834G>A; Trp278*; rs62637014

PubMed Link: 35836572

Variant Present in the following documents:

• Table1.xlsx, sheet 5
• Table1.xlsx, sheet 4

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: AIPL1: W278X; rs62637014

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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Novel mutations in PDE6A and CDHR1 cause retinitis pigmentosa in Pakistani families.

International Journal Of Ophthalmology

Dawood, Muhammad M; Lin, Siying S; Din, Taj Ud TU; Shah, Irfan Ullah IU; Khan, Niamat N; Jan, Abid A; Marwan, Muhammad M; Sultan, Komal K; Nowshid, Maha M; Tahir, Raheel R; Ahmed, Asif Naveed AN; Yasin, Muhammad M; Baple, Emma L EL; Crosby, Andrew H AH; Saleha, Shamim S

Publication Date: 2021

Variant appearance in text: AIPL1: Trp278*

PubMed Link: 34926197

Variant Present in the following documents:

• Main text

View BVdb publication page

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Leber's Congenital Amaurosis: Current Concepts of Genotype-Phenotype Correlations.

Genes

Huang, Chu-Hsuan CH; Yang, Chung-May CM; Yang, Chang-Hao CH; Hou, Yu-Chih YC; Chen, Ta-Ching TC

Publication Date: 2021-08-19

Variant appearance in text: AIPL1: 834G>A; W278X

PubMed Link: 34440435

Variant Present in the following documents:

• Main text
• genes-12-01261.pdf

View BVdb publication page

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Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration.

Scientific Reports

Sacristan-Reviriego, Almudena A; Le, Hoang Mai HM; Georgiou, Michalis M; Meunier, Isabelle I; Bocquet, Beatrice B; Roux, Anne-Françoise AF; Prodromou, Chrisostomos C; Bainbridge, James J; Michaelides, Michel M; van der Spuy, Jacqueline J

Publication Date: 2020-10-16

Variant appearance in text: AIPL1: 834G>A; W278X

PubMed Link: 33067476

Variant Present in the following documents:

• Main text
• 41598_2020_Article_74516.pdf
• 41598_2020_74516_MOESM1_ESM.pdf

View BVdb publication page

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The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates.

American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics

Méjécase, Cécile C; Kozak, Igor I; Moosajee, Mariya M

Publication Date: 2020-09

Variant appearance in text: AIPL1: 834G>A; Trp278*

PubMed Link: 32783370

Variant Present in the following documents:

• Main text
• AJMG-184-762.pdf

View BVdb publication page

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Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: AIPL1: 834G>A; W278*

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 9
• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 3
• 41467_2020_16067_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: AIPL1: 834G>A; Trp278*; rs62637014

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.

Nature Communications

Subramanian, Deepak N DN; Zethoven, Magnus M; McInerny, Simone S; Morgan, James A JA; Rowley, Simone M SM; Lee, Jue Er Amanda JEA; Li, Na N; Gorringe, Kylie L KL; James, Paul A PA; Campbell, Ian G IG

Publication Date: 2020-04-02

Variant appearance in text: AIPL1: 834G>A; Trp278Ter

PubMed Link: 32242007

Variant Present in the following documents:

• 41467_2020_15461_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT

Publication Date: 2020-02-11

Variant appearance in text: AIPL1: 834G>A; Trp278*

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 3

View BVdb publication page

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Widefield Swept Source OCTA in Retinitis Pigmentosa.

Diagnostics (Basel, Switzerland)

Mastropasqua, Rodolfo R; D'Aloisio, Rossella R; De Nicola, Chiara C; Ferro, Giada G; Senatore, Alfonso A; Libertini, Daniele D; Di Marzio, Guido G; Di Nicola, Marta M; Di Martino, Giuseppe G; Di Antonio, Luca L; Toto, Lisa L

Publication Date: 2020-01-19

Variant appearance in text: AIPL1: 834G>A; W278X

PubMed Link: 31963847

Variant Present in the following documents:

• diagnostics-10-00050.pdf

View BVdb publication page

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Findings from a Genotyping Study of Over 1000 People with Inherited Retinal Disorders in Ireland.

Genes

Whelan, Laura L; Dockery, Adrian A; Wynne, Niamh N; Zhu, Julia J; Stephenson, Kirk K; Silvestri, Giuliana G; Turner, Jacqueline J; O'Byrne, James J JJ; Carrigan, Matthew M; Humphries, Peter P; Keegan, David D; Kenna, Paul F PF; Farrar, G Jane GJ

Publication Date: 2020-01-16

Variant appearance in text: AIPL1: 834G>A

PubMed Link: 31963381

Variant Present in the following documents:

• Main text

View BVdb publication page

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

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

Lenassi, Eva E; Clayton-Smith, Jill J; Douzgou, Sofia S; Ramsden, Simon C SC; Ingram, Stuart S; Hall, Georgina G; Hardcastle, Claire L CL; Fletcher, Tracy A TA; Taylor, Rachel L RL; Ellingford, Jamie M JM; Newman, William D WD; Fenerty, Cecilia C; Sharma, Vinod V; Lloyd, I Chris IC; Biswas, Susmito S; Ashworth, Jane L JL; Black, Graeme C GC; Sergouniotis, Panagiotis I PI

Publication Date: 2020-04

Variant appearance in text: AIPL1: 834G>A; Trp278Ter

PubMed Link: 31848469

Variant Present in the following documents:

• 41436_2019_722_MOESM1_ESM.pdf

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: AIPL1: 834G>A; Trp278*; rs62637014

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: AIPL1: 834G>A; Trp278Ter

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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: rs62637014

PubMed Link: 30858532

Variant Present in the following documents:

• Main text

View BVdb publication page

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Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families.

Molecular Vision

Tayebi, Naeimeh N; Akinrinade, Oyediran O; Khan, Muhammad Imran MI; Hejazifar, Arash A; Dehghani, Alireza A; Cremers, Frans P M FPM; Akhlaghi, Mohammadreza M

Publication Date: 2019

Variant appearance in text: AIPL1: 834G>A; Trp278*

PubMed Link: 30820146

Variant Present in the following documents:

• Main text
• mv-v25-106.pdf

View BVdb publication page

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Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

Scientific Reports

Jespersgaard, Cathrine C; Fang, Mingyan M; Bertelsen, Mette M; Dang, Xiao X; Jensen, Hanne H; Chen, Yulan Y; Bech, Niels N; Dai, Lanlan L; Rosenberg, Thomas T; Zhang, Jianguo J; Møller, Lisbeth Birk LB; Tümer, Zeynep Z; Brøndum-Nielsen, Karen K; Grønskov, Karen K

Publication Date: 2019-02-04

Variant appearance in text: AIPL1: 834G>A; Trp278*

PubMed Link: 30718709

Variant Present in the following documents:

• 41598_2018_38007_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis.

Plos One

Weisschuh, Nicole N; Feldhaus, Britta B; Khan, Muhammad Imran MI; Cremers, Frans P M FPM; Kohl, Susanne S; Wissinger, Bernd B; Zobor, Ditta D

Publication Date: 2018

Variant appearance in text: AIPL1: 834G>A; W278*

PubMed Link: 30576320

Variant Present in the following documents:

• Main text
• pone.0205380.pdf

View BVdb publication page

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Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell

Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD

Publication Date: 2018-05-14

Variant appearance in text: AIPL1: W278*

PubMed Link: 29657128

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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: AIPL1: 834G>A; rs62637014

PubMed Link: 29343940

Variant Present in the following documents:

• Main text
• opth-12-049.pdf

View BVdb publication page

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The genetic profile of Leber congenital amaurosis in an Australian cohort.

Molecular Genetics & Genomic Medicine

Thompson, Jennifer A JA; De Roach, John N JN; McLaren, Terri L TL; Montgomery, Hannah E HE; Hoffmann, Ling H LH; Campbell, Isabella R IR; Chen, Fred K FK; Mackey, David A DA; Lamey, Tina M TM

Publication Date: 2017-11

Variant appearance in text: AIPL1: 834G>A

PubMed Link: 29178642

Variant Present in the following documents:

• Main text
• MGG3-5-652-s003.pdf
• MGG3-5-652-s001.pdf
• MGG3-5-652.pdf
• MGG3-5-652-s005.pdf

View BVdb publication page

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The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6.

Human Molecular Genetics

Sacristan-Reviriego, Almudena A; Bellingham, James J; Prodromou, Chrisostomos C; Boehm, Annika N AN; Aichem, Annette ; Kumaran, Neruban N; Bainbridge, James J; Michaelides, Michel M; van der Spuy, Jacqueline J

Publication Date: 2017-11-15

Variant appearance in text: AIPL1: W278*

PubMed Link: 28973376

Variant Present in the following documents:

• Main text
• ddx334.pdf

View BVdb publication page

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Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions.

The British Journal Of Ophthalmology

Kumaran, Neruban N; Moore, Anthony T AT; Weleber, Richard G RG; Michaelides, Michel M

Publication Date: 2017-09

Variant appearance in text: AIPL1: 834G>A; W278X

PubMed Link: 28689169

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pupillary Light Reflexes in Severe Photoreceptor Blindness Isolate the Melanopic Component of Intrinsically Photosensitive Retinal Ganglion Cells.

Investigative Ophthalmology & Visual Science

Charng, Jason J; Jacobson, Samuel G SG; Heon, Elise E; Roman, Alejandro J AJ; McGuigan, David B DB; Sheplock, Rebecca R; Kosyk, Mychajlo S MS; Swider, Malgorzata M; Cideciyan, Artur V AV

Publication Date: 2017-06-01

Variant appearance in text: AIPL1: Trp278X

PubMed Link: 28660274

Variant Present in the following documents:

• iovs-58-07-16_s01.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: AIPL1: 834G>A; Trp278Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Molecular and Histopathological Changes Associated with Keratoconus.

Biomed Research International

Khaled, Mariam Lotfy ML; Helwa, Inas I; Drewry, Michelle M; Seremwe, Mutsa M; Estes, Amy A; Liu, Yutao Y

Publication Date: 2017

Variant appearance in text: LCA4: Trp278X

PubMed Link: 28251158

Variant Present in the following documents:

• BMRI2017-7803029.pdf

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Molecular findings from 537 individuals with inherited retinal disease.

Journal Of Medical Genetics

Ellingford, Jamie M JM; Barton, Stephanie S; Bhaskar, Sanjeev S; O'Sullivan, James J; Williams, Simon G SG; Lamb, Janine A JA; Panda, Binay B; Sergouniotis, Panagiotis I PI; Gillespie, Rachel L RL; Daiger, Stephen P SP; Hall, Georgina G; Gale, Theodora T; Lloyd, I Christopher IC; Bishop, Paul N PN; Ramsden, Simon C SC; Black, Graeme C M GCM

Publication Date: 2016-11

Variant appearance in text: AIPL1: 834G>A; Trp278Ter

PubMed Link: 27208204

Variant Present in the following documents:

• jmedgenet-2016-103837supp_tables.pdf

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Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark.

European Journal Of Human Genetics : Ejhg

Astuti, Galuh D N GD; Bertelsen, Mette M; Preising, Markus N MN; Ajmal, Muhammad M; Lorenz, Birgit B; Faradz, Sultana M H SM; Qamar, Raheel R; Collin, Rob W J RW; Rosenberg, Thomas T; Cremers, Frans P M FP

Publication Date: 2016-07

Variant appearance in text: AIPL1: 834G>A; W278*

PubMed Link: 26626312

Variant Present in the following documents:

• Main text

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Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families.

Plos One

Srilekha, Sundaramurthy S; Arokiasamy, Tharigopala T; Srikrupa, Natarajan N NN; Umashankar, Vetrivel V; Meenakshi, Swaminathan S; Sen, Parveen P; Kapur, Suman S; Soumittra, Nagasamy N

Publication Date: 2015

Variant appearance in text: AIPL1: 834G>A; Trp278*

PubMed Link: 26147992

Variant Present in the following documents:

• Main text
• pone.0131679.s001.xls, sheet 1

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Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Genome Biology

,

Publication Date: 2015-06-26

Variant appearance in text: AIPL1: W278X; rs62637014

PubMed Link: 26112015

Variant Present in the following documents:

• 13059_2015_693_MOESM1_ESM.xls, sheet 1

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The Leber congenital amaurosis protein AIPL1 and EB proteins co-localize at the photoreceptor cilium.

Plos One

Hidalgo-de-Quintana, Juan J; Schwarz, Nele N; Meschede, Ingrid P IP; Stern-Schneider, Gabriele G; Powner, Michael B MB; Morrison, Ewan E EE; Futter, Clare E CE; Wolfrum, Uwe U; Cheetham, Michael E ME; van der Spuy, Jacqueline J

Publication Date: 2015

Variant appearance in text: AIPL1: W278X

PubMed Link: 25799540

Variant Present in the following documents:

• Main text
• pone.0121440.pdf

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Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.

Plos One

Maria, Maleeha M; Ajmal, Muhammad M; Azam, Maleeha M; Waheed, Nadia Khalida NK; Siddiqui, Sorath Noorani SN; Mustafa, Bilal B; Ayub, Humaira H; Ali, Liaqat L; Ahmad, Shakeel S; Micheal, Shazia S; Hussain, Alamdar A; Shah, Syed Tahir Abbas ST; Ali, Syeda Hafiza Benish SH; Ahmed, Waqas W; Khan, Yar Muhammad YM; den Hollander, Anneke I AI; Haer-Wigman, Lonneke L; Collin, Rob W J RW; Khan, Muhammad Imran MI; Qamar, Raheel R; Cremers, Frans P M FP

Publication Date: 2015

Variant appearance in text: AIPL1: 834G>A; W278*

PubMed Link: 25775262

Variant Present in the following documents:

• Main text
• pone.0119806.pdf

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: AIPL1: W278*

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1

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Viral-mediated vision rescue of a novel AIPL1 cone-rod dystrophy model.

Human Molecular Genetics

Ku, Cristy A CA; Chiodo, Vince A VA; Boye, Sanford L SL; Hayes, Abigail A; Goldberg, Andrew F X AF; Hauswirth, William W WW; Ramamurthy, Visvanathan V

Publication Date: 2015-02-01

Variant appearance in text: AIPL1: W278X

PubMed Link: 25274777

Variant Present in the following documents:

• Main text

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Genomic approaches for the discovery of genes mutated in inherited retinal degeneration.

Cold Spring Harbor Perspectives In Medicine

Siemiatkowska, Anna M AM; Collin, Rob W J RW; den Hollander, Anneke I AI; Cremers, Frans P M FP

Publication Date: 2014-06-17

Variant appearance in text: AIPL1: W278*

PubMed Link: 24939053

Variant Present in the following documents:

• Main text

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The molecular basis of retinal dystrophies in pakistan.

Genes

Khan, Muhammad Imran MI; Azam, Maleeha M; Ajmal, Muhammad M; Collin, Rob W J RW; den Hollander, Anneke I AI; Cremers, Frans P M FP; Qamar, Raheel R

Publication Date: 2014-03-11

Variant appearance in text: AIPL1: 834G>A; Trp278*

PubMed Link: 24705292

Variant Present in the following documents:

• Main text
• genes-05-00176.pdf

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Structural studies on AIPL1 and its functional interactions with NUB1 to identify key interacting residues in LCA4.

Journal Of Ocular Biology, Diseases, And Informatics

Muthukumaran, S S; Umashankar, V V; Valliappan, Meena Revathi MR

Publication Date: 2012-12

Variant appearance in text: AIPL1: W278X

PubMed Link: 24596939

Variant Present in the following documents:

• Main text

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: AIPL1: W278*

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-8.xlsx, sheet 1

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