Publications:

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Exome-First Strategy in Adult Patients With CKD: A Cohort Study.

Kidney International Reports

Doreille, Alice A; Lombardi, Yannis Y; Dancer, Marine M; Lamri, Radoslava R; Testard, Quentin Q; Vanhoye, Xavier X; Lebre, Anne-Sophie AS; Garcia, Hugo H; Rafat, Cédric C; Ouali, Nacera N; Luque, Yosu Y; Izzedine, Hassan H; Esteve, Emmanuel E; Cez, Alexandre A; Petit-Hoang, Camille C; François, Hélène H; Marchal, Armance A; Letavernier, Emmanuel E; Frémeaux-Bacchi, Véronique V; Boffa, Jean-Jacques JJ; Rondeau, Eric E; Raymond, Laure L; Mesnard, Laurent L

Publication Date: 2023-03

Variant appearance in text: PKHD1: 107C>T; Thr36Met

PubMed Link: 36938085

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Predominant Liver Cystic Disease in a New Heterozygotic PKHD1 Variant: A Case Report.

The American Journal Of Case Reports

Van Buren, Jacob D JD; Neuman, Jeremy T JT; Sidlow, Richard R

Publication Date: 2023-01-24

Variant appearance in text: PKHD1: Thr36Met

PubMed Link: 36691356

Variant Present in the following documents:

• Main text
• amjcaserep-24-e938507.pdf

View BVdb publication page

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Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.

Npj Genomic Medicine

Chau, Jeffrey Fong Ting JFT; Yu, Mullin Ho Chung MHC; Chui, Martin Man Chun MMC; Yeung, Cyrus Chun Wing CCW; Kwok, Aaron Wing Cheung AWC; Zhuang, Xuehan X; Lee, Ryan R; Fung, Jasmine Lee Fong JLF; Lee, Mianne M; Mak, Christopher Chun Yu CCY; Ng, Nicole Ying Ting NYT; Chung, Claudia Ching Yan CCY; Chan, Marcus Chun Yin MCY; Tsang, Mandy Ho Yin MHY; Chan, Joshua Chun Ki JCK; Chan, Kelvin Yuen Kwong KYK; Kan, Anita Sik Yau ASY; Chung, Patrick Ho Yu PHY; Yang, Wanling W; Lee, So Lun SL; Chan, Godfrey Chi Fung GCF; Tam, Paul Kwong Hang PKH; Lau, Yu Lung YL; Yeung, Kit San KS; Chung, Brian Hon Yin BHY; Tang, Clara Sze Man CSM

Publication Date: 2022-03-21

Variant appearance in text: PKHD1: 107C>T; Thr36Met; rs137852944

PubMed Link: 35314707

Variant Present in the following documents:

• 41525_2022_287_MOESM3_ESM.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: PKHD1: T36M; rs137852944

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Identification of Two Novel Mutations in PKHD1 Gene from Two Families with Polycystic Kidney Disease by Whole Exome Sequencing.

Current Genomics

Heidari, Masoud M; Gharshasbi, Hamid H; Isazadeh, Alireza A; Soleyman-Nejad, Morteza M; Taskhiri, Mohammad Hossein MH; Shapouri, Javad J; Bolhassani, Manzar M; Sadighi, Nahid N; Heidari, Mansour M

Publication Date: 2021-10-18

Variant appearance in text: PKHD1: 107C>T

PubMed Link: 34975292

Variant Present in the following documents:

• Main text
• CG-22-232.pdf

View BVdb publication page

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A human multi-lineage hepatic organoid model for liver fibrosis.

Nature Communications

Guan, Yuan Y; Enejder, Annika A; Wang, Meiyue M; Fang, Zhuoqing Z; Cui, Lu L; Chen, Shih-Yu SY; Wang, Jingxiao J; Tan, Yalun Y; Wu, Manhong M; Chen, Xinyu X; Johansson, Patrik K PK; Osman, Issra I; Kunimoto, Koshi K; Russo, Pierre P; Heilshorn, Sarah C SC; Peltz, Gary G

Publication Date: 2021-10-22

Variant appearance in text: ARPKD: T36M

PubMed Link: 34686668

Variant Present in the following documents:

• Main text
• 41467_2021_Article_26410.pdf

View BVdb publication page

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Replacing the SpCas9 HNH domain by deaminases generates compact base editors with an alternative targeting scope.

Molecular Therapy. Nucleic Acids

Villiger, Lukas L; Schmidheini, Lukas L; Mathis, Nicolas N; Rothgangl, Tanja T; Marquart, Kim K; Schwank, Gerald G

Publication Date: 2021-12-03

Variant appearance in text: PKHD1: 107C>T; Thr36Met

PubMed Link: 34631280

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Molecular Pathophysiology of Autosomal Recessive Polycystic Kidney Disease.

International Journal Of Molecular Sciences

Cordido, Adrian A; Vizoso-Gonzalez, Marta M; Garcia-Gonzalez, Miguel A MA

Publication Date: 2021-06-17

Variant appearance in text: PKHD1: 107C>T

PubMed Link: 34204582

Variant Present in the following documents:

• Main text
• ijms-22-06523.pdf

View BVdb publication page

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Fibrocystic liver disease: novel concepts and translational perspectives.

Translational Gastroenterology And Hepatology

Lasagni, Alberto A; Cadamuro, Massimiliano M; Morana, Giovanni G; Fabris, Luca L; Strazzabosco, Mario M

Publication Date: 2021

Variant appearance in text: PKHD1: 107C>T

PubMed Link: 33824930

Variant Present in the following documents:

• Main text

View BVdb publication page

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Rare Pathogenic Variants in Mitochondrial and Inflammation-Associated Genes May Lead to Inflammatory Cardiomyopathy in Chagas Disease.

Journal Of Clinical Immunology

Ouarhache, Maryem M; Marquet, Sandrine S; Frade, Amanda Farage AF; Ferreira, Ariela Mota AM; Ianni, Barbara B; Almeida, Rafael Ribeiro RR; Nunes, Joao Paulo Silva JPS; Ferreira, Ludmila Rodrigues Pinto LRP; Rigaud, Vagner Oliveira-Carvalho VO; Cândido, Darlan D; Mady, Charles C; Zaniratto, Ricardo Costa Fernandes RCF; Buck, Paula P; Torres, Magali M; Gallardo, Frederic F; Andrieux, Pauline P; Bydlowsky, Sergio S; Levy, Debora D; Abel, Laurent L; Cardoso, Clareci Silva CS; Santos-Junior, Omar Ribeiro OR; Oliveira, Lea Campos LC; Oliveira, Claudia Di Lorenzo CDL; Nunes, Maria Do Carmo MDC; Cobat, Aurelie A; Kalil, Jorge J; Ribeiro, Antonio Luiz AL; Sabino, Ester Cerdeira EC; Cunha-Neto, Edecio E; Chevillard, Christophe C

Publication Date: 2021-07

Variant appearance in text: PKHD1: T36M; rs137852944

PubMed Link: 33660144

Variant Present in the following documents:

• Main text

View BVdb publication page

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Early clinical management of autosomal recessive polycystic kidney disease.

Pediatric Nephrology (Berlin, Germany)

Liebau, Max Christoph MC

Publication Date: 2021-11

Variant appearance in text: ARPKD: T36M

PubMed Link: 33594464

Variant Present in the following documents:

• Main text
• 467_2021_Article_4970.pdf

View BVdb publication page

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Early clinical management of autosomal recessive polycystic kidney disease.

Pediatric Nephrology (Berlin, Germany)

Liebau, Max Christoph MC

Publication Date: 2021-11

Variant appearance in text: ARPKD: T36M

PubMed Link: 33594464

Variant Present in the following documents:

• Main text
• 467_2021_Article_4970.pdf

View BVdb publication page

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Multiple Cerebral Aneurysms in an Adult With Autosomal Recessive Polycystic Kidney Disease.

Kidney International Reports

Gately, Ryan R; Lock, Gregory G; Patel, Chirag C; Clouston, John J; Hawley, Carmel C; Mallett, Andrew A

Publication Date: 2021-01

Variant appearance in text: PKHD1: Thr36Met

PubMed Link: 33426401

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Occurrence of Portal Hypertension and Its Clinical Course in Patients With Molecularly Confirmed Autosomal Recessive Polycystic Kidney Disease (ARPKD).

Frontiers In Pediatrics

Wicher, Dorota D; Grenda, Ryszard R; Teisseyre, Mikołaj M; Szymczak, Marek M; Halat-Wolska, Paulina P; Jurkiewicz, Dorota D; Liebau, Max Christoph MC; Ciara, Elżbieta E; Rydzanicz, Małgorzata M; Kosińska, Joanna J; Chrzanowska, Krystyna K; Jankowska, Irena I

Publication Date: 2020

Variant appearance in text: PKHD1: 107C>T

PubMed Link: 33282801

Variant Present in the following documents:

• Main text
• fped-08-591379.pdf

View BVdb publication page

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Clinical impact of genomic testing in patients with suspected monogenic kidney disease.

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

Jayasinghe, Kushani K; Stark, Zornitza Z; Kerr, Peter G PG; Gaff, Clara C; Martyn, Melissa M; Whitlam, John J; Creighton, Belinda B; Donaldson, Elizabeth E; Hunter, Matthew M; Jarmolowicz, Anna A; Johnstone, Lilian L; Krzesinski, Emma E; Lunke, Sebastian S; Lynch, Elly E; Nicholls, Kathleen K; Patel, Chirag C; Prawer, Yael Y; Ryan, Jessica J; See, Emily J EJ; Talbot, Andrew A; Trainer, Alison A; Tytherleigh, Rigan R; Valente, Giulia G; Wallis, Mathew M; Wardrop, Louise L; West, Kirsty H KH; White, Susan M SM; Wilkins, Ella E; Mallett, Andrew J AJ; Quinlan, Catherine C

Publication Date: 2021-01

Variant appearance in text: PKHD1: Thr36Met

PubMed Link: 32939031

Variant Present in the following documents:

• 41436_2020_963_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Clinical and genetic characteristics of autosomal recessive polycystic kidney disease in Oman.

Bmc Nephrology

Al Alawi, Intisar I; Molinari, Elisa E; Al Salmi, Issa I; Al Rahbi, Fatma F; Al Mawali, Adhra A; Sayer, John A JA

Publication Date: 2020-08-14

Variant appearance in text: PKHD1: Thr36Met; rs137852944

PubMed Link: 32799815

Variant Present in the following documents:

• Main text
• 12882_2020_Article_2013.pdf

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: PKHD1: T36M

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Results of targeted next-generation sequencing in children with cystic kidney diseases often change the clinical diagnosis.

Plos One

Obeidova, Lena L; Seeman, Tomas T; Fencl, Filip F; Blahova, Kveta K; Hojny, Jan J; Elisakova, Veronika V; Reiterova, Jana J; Stekrova, Jitka J

Publication Date: 2020

Variant appearance in text: PKHD1: 107C>T; rs137852944

PubMed Link: 32574212

Variant Present in the following documents:

• Main text
• pone.0235071.pdf

View BVdb publication page

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Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families.

Frontiers In Genetics

Mantovani, Vilma V; Bin, Sofia S; Graziano, Claudio C; Capelli, Irene I; Minardi, Raffaella R; Aiello, Valeria V; Ambrosini, Enrico E; Cristalli, Carlotta Pia CP; Mattiaccio, Alessandro A; Pariali, Milena M; De Fanti, Sara S; Faletra, Flavio F; Grosso, Enrico E; Cantone, Rachele R; Mancini, Elena E; Mencarelli, Francesca F; Pasini, Andrea A; Wischmeijer, Anita A; Sciascia, Nicola N; Seri, Marco M; La Manna, Gaetano G

Publication Date: 2020

Variant appearance in text: PKHD1: 107C>T

PubMed Link: 32457805

Variant Present in the following documents:

• Main text
• fgene-11-00464.pdf

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: PKHD1: 107C>T; Thr36Met

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 3

View BVdb publication page

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Molecular Genetic Diagnosis of Omani Patients With Inherited Cystic Kidney Disease.

Kidney International Reports

Al Alawi, Intisar I; Al Salmi, Issa I; Al Rahbi, Fatma F; Al Riyami, Mohamed M; Al Kalbani, Naifain N; Al Ghaithi, Badria B; Al Mawali, Adhra A; Sayer, John A JA

Publication Date: 2019-12

Variant appearance in text: PKHD1: 107C>T; rs137852944

PubMed Link: 31844813

Variant Present in the following documents:

• Main text

View BVdb publication page

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Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.

Molecular Cytogenetics

Koumbaris, George G; Achilleos, Achilleas A; Nicolaou, Michalis M; Loizides, Charalambos C; Tsangaras, Kyriakos K; Kypri, Elena E; Mina, Petros P; Sismani, Carolina C; Velissariou, Voula V; Christopoulou, Georgia G; Constantoulakis, Pantelis P; Manolakos, Emmanouil E; Papoulidis, Ioannis I; Stambouli, Danai D; Ioannides, Marios M; Patsalis, Philippos P

Publication Date: 2019

Variant appearance in text: PKHD1: 107C>T; Thr36Met

PubMed Link: 31832098

Variant Present in the following documents:

• 13039_2019_459_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: PKHD1: 107C>T; rs137852944

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15
• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14

View BVdb publication page

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Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association

Mansilla, M Adela MA; Sompallae, Ramakrishna R RR; Nishimura, Carla J CJ; Kwitek, Anne E AE; Kimble, Mycah J MJ; Freese, Margaret E ME; Campbell, Colleen A CA; Smith, Richard J RJ; Thomas, Christie P CP

Publication Date: 2021-01-25

Variant appearance in text: PKHD1: 107C>T; Thr36Met

PubMed Link: 31738409

Variant Present in the following documents:

• Main text
• gfz173.pdf

View BVdb publication page

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Novel compound heterozygous PKHD1 mutations cause autosomal recessive polycystic kidney disease in a Han Chinese family.

Molecular Medicine Reports

Wang, Jin J; Qi, Dandan D; Yang, Jialiang J; Zhang, Dingding D; Wang, Qingwei Q; Ju, Xueming X; Zhong, Xiang X

Publication Date: 2019-12

Variant appearance in text: PKHD1: 107C>T

PubMed Link: 31638247

Variant Present in the following documents:

• Main text
• mmr-20-06-5059.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: PKHD1: 107C>T; Thr36Met; rs137852944

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: PKHD1: 107C>T; Thr36Met

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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Monogenic causes of chronic kidney disease in adults.

Kidney International

Connaughton, Dervla M DM; Kennedy, Claire C; Shril, Shirlee S; Mann, Nina N; Murray, Susan L SL; Williams, Patrick A PA; Conlon, Eoin E; Nakayama, Makiko M; van der Ven, Amelie T AT; Ityel, Hadas H; Kause, Franziska F; Kolvenbach, Caroline M CM; Dai, Rufeng R; Vivante, Asaf A; Braun, Daniela A DA; Schneider, Ronen R; Kitzler, Thomas M TM; Moloney, Brona B; Moran, Conor P CP; Smyth, John S JS; Kennedy, Alan A; Benson, Katherine K; Stapleton, Caragh C; Denton, Mark M; Magee, Colm C; O'Seaghdha, Conall M CM; Plant, William D WD; Griffin, Matthew D MD; Awan, Atif A; Sweeney, Clodagh C; Mane, Shrikant M SM; Lifton, Richard P RP; Griffin, Brenda B; Leavey, Sean S; Casserly, Liam L; de Freitas, Declan G DG; Holian, John J; Dorman, Anthony A; Doyle, Brendan B; Lavin, Peter J PJ; Little, Mark A MA; Conlon, Peter J PJ; Hildebrandt, Friedhelm F

Publication Date: 2019-04

Variant appearance in text: PKHD1: 107C>T; Thr36Met

PubMed Link: 30773290

Variant Present in the following documents:

• Main text

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: PKHD1: T36M

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

---

Polycystic kidney disease.

Nature Reviews. Disease Primers

Bergmann, Carsten C; Guay-Woodford, Lisa M LM; Harris, Peter C PC; Horie, Shigeo S; Peters, Dorien J M DJM; Torres, Vicente E VE

Publication Date: 2018-12-06

Variant appearance in text: PKHD1: T36M

PubMed Link: 30523303

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomic Profiling on an Unselected Solid Tumor Population Reveals a Highly Mutated Wnt/β-Catenin Pathway Associated with Oncogenic EGFR Mutations.

Journal Of Personalized Medicine

Jiang, Jingrui J; Protopopov, Alexei A; Sun, Ruobai R; Lyle, Stephen S; Russell, Meaghan M

Publication Date: 2018-04-09

Variant appearance in text: PKHD1: T36M

PubMed Link: 29642553

Variant Present in the following documents:

• Main text
• jpm-08-00013.pdf

View BVdb publication page

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Genetics of Autosomal Recessive Polycystic Kidney Disease and Its Differential Diagnoses.

Frontiers In Pediatrics

Bergmann, Carsten C

Publication Date: 2017

Variant appearance in text: PKHD1: 107C>T

PubMed Link: 29479522

Variant Present in the following documents:

• Main text
• fped-05-00221.pdf

View BVdb publication page

---

Familial Colorectal Cancer Type X.

Current Genomics

Zetner, Diana Bregner DB; Bisgaard, Marie Luise ML

Publication Date: 2017-08

Variant appearance in text: PKHD1: T36M

PubMed Link: 29081690

Variant Present in the following documents:

• Main text
• CG-18-341.pdf

View BVdb publication page

---

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: PKHD1: 107C>T; Thr36Met

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.

Breast Cancer Research : Bcr

Melloni, Giorgio E M GEM; Mazzarella, Luca L; Bernard, Loris L; Bodini, Margherita M; Russo, Anna A; Luzi, Lucilla L; Pelicci, Pier Giuseppe PG; Riva, Laura L

Publication Date: 2017-05-31

Variant appearance in text: PKHD1: T36M

PubMed Link: 28569218

Variant Present in the following documents:

• Main text
• 13058_2017_Article_854.pdf
• 13058_2017_854_MOESM2_ESM.xlsx, sheet 5

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: PKHD1: T36M; rs137852944

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 8
• srep46105-s2.xls, sheet 6

View BVdb publication page

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Isolated polycystic liver disease genes define effectors of polycystin-1 function.

The Journal Of Clinical Investigation

Besse, Whitney W; Dong, Ke K; Choi, Jungmin J; Punia, Sohan S; Fedeles, Sorin V SV; Choi, Murim M; Gallagher, Anna-Rachel AR; Huang, Emily B EB; Gulati, Ashima A; Knight, James J; Mane, Shrikant S; Tahvanainen, Esa E; Tahvanainen, Pia P; Sanna-Cherchi, Simone S; Lifton, Richard P RP; Watnick, Terry T; Pei, York P YP; Torres, Vicente E VE; Somlo, Stefan S

Publication Date: 2017-05-01

Variant appearance in text: ARPKD: T36M

PubMed Link: 28375157

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants.

Clinical Genetics

Shi, L L; Webb, B D BD; Birch, A H AH; Elkhoury, L L; McCarthy, J J; Cai, X X; Oishi, K K; Mehta, L L; Diaz, G A GA; Edelmann, L L; Kornreich, R R

Publication Date: 2017-04

Variant appearance in text: PKHD1: T36M

PubMed Link: 27415407

Variant Present in the following documents:

• Main text

View BVdb publication page

---

DiMeX: A Text Mining System for Mutation-Disease Association Extraction.

Plos One

Mahmood, A S M Ashique AS; Wu, Tsung-Jung TJ; Mazumder, Raja R; Vijay-Shanker, K K

Publication Date: 2016

Variant appearance in text: PKHD1: T36M

PubMed Link: 27073839

Variant Present in the following documents:

• pone.0152725.s003.xlsx, sheet 1

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Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease.

Bmc Medical Genetics

Obeidova, Lena L; Seeman, Tomas T; Elisakova, Veronika V; Reiterova, Jana J; Puchmajerova, Alena A; Stekrova, Jitka J

Publication Date: 2015-12-22

Variant appearance in text: ARPKD: Thr36Met

PubMed Link: 26695994

Variant Present in the following documents:

• Main text

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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: ARPKD: T36M

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: PKHD1: T36M

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: PKHD1: T36M

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

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Polycystic liver diseases: advanced insights into the molecular mechanisms.

Nature Reviews. Gastroenterology & Hepatology

Perugorria, Maria J MJ; Masyuk, Tatyana V TV; Marin, Jose J JJ; Marzioni, Marco M; Bujanda, Luis L; LaRusso, Nicholas F NF; Banales, Jesus M JM

Publication Date: 2014-12

Variant appearance in text: PKHD1: 107C>T

PubMed Link: 25266109

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: PKHD1: T36M

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-7.xlsx, sheet 1

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Induced pluripotent stem cells from polycystic kidney disease patients: a novel tool to model the pathogenesis of cystic kidney disease.

Journal Of The American Society Of Nephrology : Jasn

Hofherr, Alexis A; Köttgen, Michael M

Publication Date: 2013-10

Variant appearance in text: PKHD1: T36M

PubMed Link: 24009236

Variant Present in the following documents:

• Main text

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Reduced ciliary polycystin-2 in induced pluripotent stem cells from polycystic kidney disease patients with PKD1 mutations.

Journal Of The American Society Of Nephrology : Jasn

Freedman, Benjamin S BS; Lam, Albert Q AQ; Sundsbak, Jamie L JL; Iatrino, Rossella R; Su, Xuefeng X; Koon, Sarah J SJ; Wu, Maoqing M; Daheron, Laurence L; Harris, Peter C PC; Zhou, Jing J; Bonventre, Joseph V JV

Publication Date: 2013-10

Variant appearance in text: PKHD1: T36M

PubMed Link: 24009235

Variant Present in the following documents:

• Main text

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Genetic contribution and associated pathophysiology in end-stage renal disease.

The Application Of Clinical Genetics

Agrawal, Suraksha S; Agarwal, Ss S; Naik, Sita S

Publication Date: 2010

Variant appearance in text: PKHD1: T36M

PubMed Link: 23776353

Variant Present in the following documents:

• Main text
• tacg-3-065.pdf

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