Publications:

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Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

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

Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE

Publication Date: 2022-11-15

Variant appearance in text: AHI1: 2488C>T; Arg830Trp

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

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: AHI1: R830W; rs13312995

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD.

Npj Genomic Medicine

Sangermano, Riccardo R; Deitch, Iris I; Peter, Virginie G VG; Ba-Abbad, Rola R; Place, Emily M EM; Zampaglione, Erin E; Wagner, Naomi E NE; Fulton, Anne B AB; Coutinho-Santos, Luisa L; Rosin, Boris B; Dunet, Vincent V; AlTalbishi, Ala'a A; Banin, Eyal E; Sousa, Ana Berta AB; Neves, Mariana M; Larson, Anna A; Quinodoz, Mathieu M; Michaelides, Michel M; Ben-Yosef, Tamar T; Pierce, Eric A EA; Rivolta, Carlo C; Webster, Andrew R AR; Arno, Gavin G; Sharon, Dror D; Huckfeldt, Rachel M RM; Bujakowska, Kinga M KM

Publication Date: 2021-06-29

Variant appearance in text: AHI1: Arg830Trp

PubMed Link: 34188062

Variant Present in the following documents:

• Main text
• 41525_2021_Article_214.pdf

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: AHI1: 2488C>T; Arg830Trp

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: AHI1: R830W; rs13312995

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: AHI1: 2488C>T; rs13312995

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: AHI1: R830W; rs13312995

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4
• oncotarget-08-95841-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: AHI1: 2488C>T; Arg830Trp

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa.

Journal Of Medical Genetics

Nguyen, Thanh-Minh T TT; Hull, Sarah S; Roepman, Ronald R; van den Born, L Ingeborgh LI; Oud, Machteld M MM; de Vrieze, Erik E; Hetterschijt, Lisette L; Letteboer, Stef J F SJF; van Beersum, Sylvia E C SEC; Blokland, Ellen A EA; Yntema, Helger G HG; Cremers, Frans P M FPM; van der Zwaag, Paul A PA; Arno, Gavin G; van Wijk, Erwin E; Webster, Andrew R AR; Haer-Wigman, Lonneke L

Publication Date: 2017-09

Variant appearance in text: AHI1: Arg830Trp

PubMed Link: 28442542

Variant Present in the following documents:

• Main text
• jmedgenet-2016-104200.pdf
• jmedgenet-2016-104200supp001.pdf

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: AHI1: R830W; rs13312995

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 9

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: AHI1: Arg830Trp

PubMed Link: 28289063

Variant Present in the following documents:

• Main text

View BVdb publication page

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: AHI1: R830W

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1

View BVdb publication page

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Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.

American Journal Of Human Genetics

Lindstrand, Anna A; Frangakis, Stephan S; Carvalho, Claudia M B CM; Richardson, Ellen B EB; McFadden, Kelsey A KA; Willer, Jason R JR; Pehlivan, Davut D; Liu, Pengfei P; Pediaditakis, Igor L IL; Sabo, Aniko A; Lewis, Richard Alan RA; Banin, Eyal E; Lupski, James R JR; Davis, Erica E EE; Katsanis, Nicholas N

Publication Date: 2016-08-04

Variant appearance in text: AHI1: Arg830Trp

PubMed Link: 27486776

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.

Journal Of Medical Genetics

Roosing, Susanne S; Romani, Marta M; Isrie, Mala M; Rosti, Rasim Ozgur RO; Micalizzi, Alessia A; Musaev, Damir D; Mazza, Tommaso T; Al-Gazali, Lihadh L; Altunoglu, Umut U; Boltshauser, Eugen E; D'Arrigo, Stefano S; De Keersmaecker, Bart B; Kayserili, Hülya H; Brandenberger, Sarah S; Kraoua, Ichraf I; Mark, Paul R PR; McKanna, Trudy T; Van Keirsbilck, Joachim J; Moerman, Philippe P; Poretti, Andrea A; Puri, Ratna R; Van Esch, Hilde H; Gleeson, Joseph G JG; Valente, Enza Maria EM

Publication Date: 2016-09

Variant appearance in text: AHI1: Arg830Trp

PubMed Link: 27208211

Variant Present in the following documents:

• Main text
• jmedgenet-2016-103832.pdf

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: JBTS3: R830W; rs13312995

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: AHI1: 2488C>T; R830W; rs13312995

PubMed Link: 26496393

Variant Present in the following documents:

• pone.0140684.s004.xlsx, sheet 4

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: AHI1: R830W

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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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: AHI1: R830W

PubMed Link: 26033081

Variant Present in the following documents:

• Main text

View BVdb publication page

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A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Immunity & Ageing : I & A

Villa, Francesco F; Maciąg, Anna A; Spinelli, Chiara C CC; Ferrario, Anna A; Carrizzo, Albino A; Parisi, Attilio A; Torella, Annalaura A; Montenero, Chiara C; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale S AS; Puca, Annibale A AA

Publication Date: 2014

Variant appearance in text: AHI1: R830W; rs13312995

PubMed Link: 25469153

Variant Present in the following documents:

• 12979_2014_19_MOESM2_ESM.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: AHI1: R830W; rs13312995

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research

Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR

Publication Date: 2014-12-16

Variant appearance in text: AHI1: R830W; rs13312995

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 19

View BVdb publication page

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Joubert syndrome: congenital cerebellar ataxia with the molar tooth.

The Lancet. Neurology

Romani, Marta M; Micalizzi, Alessia A; Valente, Enza Maria EM

Publication Date: 2013-09

Variant appearance in text: AHI1: R830W

PubMed Link: 23870701

Variant Present in the following documents:

• Main text

View BVdb publication page

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Investigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndrome.

Plos One

Cheng, Yu-Zhu YZ; Eley, Lorraine L; Hynes, Ann-Marie AM; Overman, Lynne M LM; Simms, Roslyn J RJ; Barker, Amy A; Dawe, Helen R HR; Lindsay, Susan S; Sayer, John A JA

Publication Date: 2012

Variant appearance in text: AHI1: R830W

PubMed Link: 23028714

Variant Present in the following documents:

• Main text
• pone.0044975.pdf

View BVdb publication page

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TCTN3 mutations cause Mohr-Majewski syndrome.

American Journal Of Human Genetics

Thomas, Sophie S; Legendre, Marine M; Saunier, Sophie S; Bessières, Bettina B; Alby, Caroline C; Bonnière, Maryse M; Toutain, Annick A; Loeuillet, Laurence L; Szymanska, Katarzyna K; Jossic, Frédérique F; Gaillard, Dominique D; Yacoubi, Mohamed Tahar MT; Mougou-Zerelli, Soumaya S; David, Albert A; Barthez, Marie-Anne MA; Ville, Yves Y; Bole-Feysot, Christine C; Nitschke, Patrick P; Lyonnet, Stanislas S; Munnich, Arnold A; Johnson, Colin A CA; Encha-Razavi, Férechté F; Cormier-Daire, Valérie V; Thauvin-Robinet, Christel C; Vekemans, Michel M; Attié-Bitach, Tania T

Publication Date: 2012-08-10

Variant appearance in text: AHI1: 2488C>T; Arg830Trp

PubMed Link: 22883145

Variant Present in the following documents:

• Main text

View BVdb publication page

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Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.

Journal Of Medical Genetics

Redin, Claire C; Le Gras, Stéphanie S; Mhamdi, Oussema O; Geoffroy, Véronique V; Stoetzel, Corinne C; Vincent, Marie-Claire MC; Chiurazzi, Pietro P; Lacombe, Didier D; Ouertani, Ines I; Petit, Florence F; Till, Marianne M; Verloes, Alain A; Jost, Bernard B; Chaabouni, Habiba Bouhamed HB; Dollfus, Helene H; Mandel, Jean-Louis JL; Muller, Jean J

Publication Date: 2012-08

Variant appearance in text: JBTS3: R830W

PubMed Link: 22773737

Variant Present in the following documents:

• Main text
• jmedgenet-2012-100875.pdf

View BVdb publication page

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Modeling human disease in humans: the ciliopathies.

Cell

Novarino, Gaia G; Akizu, Naiara N; Gleeson, Joseph G JG

Publication Date: 2011-09-30

Variant appearance in text: AHI1: R830W

PubMed Link: 21962508

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: AHI1: Arg830Trp

PubMed Link: 20683928

Variant Present in the following documents:

• Main text
• humu0031-E1709.pdf

View BVdb publication page

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AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.

Nature Genetics

Louie, Carrie M CM; Caridi, Gianluca G; Lopes, Vanda S VS; Brancati, Francesco F; Kispert, Andreas A; Lancaster, Madeline A MA; Schlossman, Andrew M AM; Otto, Edgar A EA; Leitges, Michael M; Gröne, Hermann-Josef HJ; Lopez, Irma I; Gudiseva, Harini V HV; O'Toole, John F JF; Vallespin, Elena E; Ayyagari, Radha R; Ayuso, Carmen C; Cremers, Frans P M FP; den Hollander, Anneke I AI; Koenekoop, Robert K RK; Dallapiccola, Bruno B; Ghiggeri, Gian Marco GM; Hildebrandt, Friedhelm F; Valente, Enza Maria EM; Williams, David S DS; Gleeson, Joseph G JG

Publication Date: 2010-02

Variant appearance in text: AHI1: R830W

PubMed Link: 20081859

Variant Present in the following documents:

• Main text
• NIHMS165361-supplement-1.pdf
• nihms-165361.pdf

View BVdb publication page

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Association of common variants in the Joubert syndrome gene (AHI1) with autism.

Human Molecular Genetics

Alvarez Retuerto, Ana I AI; Cantor, Rita M RM; Gleeson, Joseph G JG; Ustaszewska, Anna A; Schackwitz, Wendy S WS; Pennacchio, Len A LA; Geschwind, Daniel H DH

Publication Date: 2008-12-15

Variant appearance in text: AHI1: R830W

PubMed Link: 18782849

Variant Present in the following documents:

• Main text

View BVdb publication page

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AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.

Journal Of Medical Genetics

Parisi, M A MA; Doherty, D D; Eckert, M L ML; Shaw, D W W DW; Ozyurek, H H; Aysun, S S; Giray, O O; Al Swaid, A A; Al Shahwan, S S; Dohayan, N N; Bakhsh, E E; Indridason, O S OS; Dobyns, W B WB; Bennett, C L CL; Chance, P F PF; Glass, I A IA

Publication Date: 2006-04

Variant appearance in text: AHI1: R830W

PubMed Link: 16155189

Variant Present in the following documents:

• Main text

View BVdb publication page

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