Publications:

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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: AHI1: E1086G

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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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: E1086G; rs148000791

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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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: AHI1: E1086G; rs148000791

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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PRIORI-T: A tool for rare disease gene prioritization using MEDLINE.

Plos One

Rao, Aditya A; Joseph, Thomas T; Saipradeep, Vangala G VG; Kotte, Sujatha S; Sivadasan, Naveen N; Srinivasan, Rajgopal R

Publication Date: 2020

Variant appearance in text: AHI1: Glu1086Gly

PubMed Link: 32315351

Variant Present in the following documents:

• pone.0231728.s001.pdf

View BVdb publication page

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Novel mutations of PKHD1 and AHI1 identified in two families with cystic renal disease.

International Journal Of Clinical And Experimental Pathology

Hou, Ling L; Du, Yue Y; Zhang, Mingming M; Su, Pengjun P; Zhao, Chengguang C; Wu, Yubin Y

Publication Date: 2018

Variant appearance in text: AHI1: 3257A>G; Glu1086Gly

PubMed Link: 31938409

Variant Present in the following documents:

• Main text

View BVdb publication page

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Dysregulation of neuron differentiation in an autistic savant with exceptional memory.

Molecular Brain

Song, Jinjing J; Yang, Xiujuan X; Zhou, Ying Y; Chen, Lei L; Zhang, Xu X; Liu, Zhuxi Z; Niu, Weibo W; Zhan, Nengpeng N; Fan, Xuelian X; Khan, Abdul Aziz AA; Kuang, Yifang Y; Song, Lulu L; He, Guang G; Li, Weidong W

Publication Date: 2019-11-07

Variant appearance in text: AHI1: 3257A>G; Glu1086Gly; rs148000791

PubMed Link: 31699123

Variant Present in the following documents:

• 13041_2019_507_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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DNA methylation loss promotes immune evasion of tumours with high mutation and copy number load.

Nature Communications

Jung, Hyunchul H; Kim, Hong Sook HS; Kim, Jeong Yeon JY; Sun, Jong-Mu JM; Ahn, Jin Seok JS; Ahn, Myung-Ju MJ; Park, Keunchil K; Esteller, Manel M; Lee, Se-Hoon SH; Choi, Jung Kyoon JK

Publication Date: 2019-09-19

Variant appearance in text: AHI1: E1086G

PubMed Link: 31537801

Variant Present in the following documents:

• 41467_2019_12159_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: AHI1: E1086G

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 12
• 13073_2019_654_MOESM2_ESM.xlsx, sheet 48

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: AHI1: E1086G; rs148000791

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks.

Bmc Medical Genomics

Rao, Aditya A; Vg, Saipradeep S; Joseph, Thomas T; Kotte, Sujatha S; Sivadasan, Naveen N; Srinivasan, Rajgopal R

Publication Date: 2018-07-06

Variant appearance in text: AHI1: Glu1086Gly

PubMed Link: 29980210

Variant Present in the following documents:

• 12920_2018_372_MOESM1_ESM.pdf

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: AHI1: 3257A>G; E1086G; rs148000791

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 2

View BVdb publication page

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Deleterious genetic variants in ciliopathy genes increase risk of ritodrine-induced cardiac and pulmonary side effects.

Bmc Medical Genomics

Seo, Heewon H; Kwon, Eun Jin EJ; You, Young-Ah YA; Park, Yoomi Y; Min, Byung Joo BJ; Yoo, Kyunghun K; Hwang, Han-Sung HS; Kim, Ju Han JH; Kim, Young Ju YJ

Publication Date: 2018-01-24

Variant appearance in text: rs148000791

PubMed Link: 29368655

Variant Present in the following documents:

• Main text

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: AHI1: 3257A>G; Glu1086Gly; rs148000791

PubMed Link: 29343940

Variant Present in the following documents:

• Main text
• opth-12-049.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: AHI1: 3257A>G; Glu1086Gly

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Identification of 2 Potentially Relevant Gene Mutations Involved in Strabismus Using Whole-Exome Sequencing.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research

Min, Xiangrong X; Fan, Haiying H; Zhao, Guiqiu G; Liu, Guixiang G

Publication Date: 2017-04-09

Variant appearance in text: AHI1: 3257A>G; E1086G

PubMed Link: 28391287

Variant Present in the following documents:

• Main text
• medscimonit-23-1719.pdf

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: E1086G

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1

View BVdb publication page

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Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.

Experimental & Molecular Medicine

Kang, Hee Gyung HG; Lee, Hyun Kyung HK; Ahn, Yo Han YH; Joung, Je-Gun JG; Nam, Jaeyong J; Kim, Nayoung K D NK; Ko, Jung Min JM; Cho, Min Hyun MH; Shin, Jae Il JI; Kim, Joon J; Park, Hye Won HW; Park, Young Seo YS; Ha, Il-Soo IS; Chung, Woo Yeong WY; Lee, Dae-Yeol DY; Kim, Su Young SY; Park, Woong Yang WY; Cheong, Hae Il HI

Publication Date: 2016-08-05

Variant appearance in text: AHI1: Glu1086Gly

PubMed Link: 27491411

Variant Present in the following documents:

• emm201663a.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: E1086G; rs148000791

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: 3257A>G; E1086G; rs148000791

PubMed Link: 26496393

Variant Present in the following documents:

• pone.0140684.s004.xlsx, sheet 5
• 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: AHI1: E1086G

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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Joubert syndrome: genotyping a Northern European patient cohort.

European Journal Of Human Genetics : Ejhg

Kroes, Hester Y HY; Monroe, Glen R GR; van der Zwaag, Bert B; Duran, Karen J KJ; de Kovel, Carolien G CG; van Roosmalen, Mark J MJ; Harakalova, Magdalena M; Nijman, Ies J IJ; Kloosterman, Wigard P WP; Giles, Rachel H RH; Knoers, Nine V A M NV; van Haaften, Gijs G

Publication Date: 2016-02

Variant appearance in text: AHI1: 3257A>G; Glu1086Gly; rs148000791

PubMed Link: 25920555

Variant Present in the following documents:

• Main text

View BVdb publication page

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Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel.

Plos One

Brett, Maggie M; McPherson, John J; Zang, Zhi Jiang ZJ; Lai, Angeline A; Tan, Ee-Shien ES; Ng, Ivy I; Ong, Lai-Choo LC; Cham, Breana B; Tan, Patrick P; Rozen, Steve S; Tan, Ene-Choo EC

Publication Date: 2014

Variant appearance in text: AHI1: E1086G

PubMed Link: 24690944

Variant Present in the following documents:

• Main text
• pone.0093409.pdf

View BVdb publication page

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The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions.

The Journal Of Biological Chemistry

Tuz, Karina K; Hsiao, Yi-Chun YC; Juárez, Oscar O; Shi, Bingxing B; Harmon, Erin Y EY; Phelps, Ian G IG; Lennartz, Michelle R MR; Glass, Ian A IA; Doherty, Dan D; Ferland, Russell J RJ

Publication Date: 2013-05-10

Variant appearance in text: AHI1: E1086G

PubMed Link: 23532844

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.

American Journal Of Human Genetics

Srour, Myriam M; Schwartzentruber, Jeremy J; Hamdan, Fadi F FF; Ospina, Luis H LH; Patry, Lysanne L; Labuda, Damian D; Massicotte, Christine C; Dobrzeniecka, Sylvia S; Capo-Chichi, José-Mario JM; Papillon-Cavanagh, Simon S; Samuels, Mark E ME; Boycott, Kym M KM; Shevell, Michael I MI; Laframboise, Rachel R; Désilets, Valérie V; , ; Maranda, Bruno B; Rouleau, Guy A GA; Majewski, Jacek J; Michaud, Jacques L JL

Publication Date: 2012-04-06

Variant appearance in text: AHI1: 3257A>G; Glu1086Gly

PubMed Link: 22425360

Variant Present in the following documents:

• Main text

View BVdb publication page

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