Publications:

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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: WNT10A: 321C>A; Cys107Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM5_ESM.xlsx, sheet 4
• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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High Throughput Genetic Characterisation of Caucasian Patients Affected by Multi-Drug Resistant Rheumatoid or Psoriatic Arthritis.

Journal Of Personalized Medicine

Tesolin, Paola P; Bertinetto, Francesca Eleonora FE; Sonaglia, Arianna A; Cappellani, Stefania S; Concas, Maria Pina MP; Morgan, Anna A; Ferrero, Norma Maria NM; Zabotti, Alen A; Gasparini, Paolo P; Amoroso, Antonio A; Quartuccio, Luca L; Girotto, Giorgia G

Publication Date: 2022-09-30

Variant appearance in text: WNT10A: 321C>A; Cys107*

PubMed Link: 36294757

Variant Present in the following documents:

• Main text
• jpm-12-01618.pdf

View BVdb publication page

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

Nature Neuroscience

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

Publication Date: 2022-02

Variant appearance in text: WNT10A: C107X; rs121908119

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8

View BVdb publication page

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Analyses of oligodontia phenotypes and genetic etiologies.

International Journal Of Oral Science

Zhou, Mengqi M; Zhang, Hong H; Camhi, Heather H; Seymen, Figen F; Koruyucu, Mine M; Kasimoglu, Yelda Y; Kim, Jung-Wook JW; Kim-Berman, Hera H; Yuson, Ninna M R NMR; Benke, Paul J PJ; Wu, Yiqun Y; Wang, Feng F; Zhu, Yaqin Y; Simmer, James P JP; Hu, Jan C-C JC

Publication Date: 2021-09-30

Variant appearance in text: WNT10A: 321C>A; Cys107*

PubMed Link: 34593752

Variant Present in the following documents:

• Main text
• 41368_2021_135_MOESM1_ESM.pdf
• 41368_2021_Article_135.pdf

View BVdb publication page

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Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Genome Medicine

Wang, Zishan Z; Fan, Xiao X; Shen, Yufeng Y; Pagadala, Meghana S MS; Signer, Rebecca R; Cygan, Kamil J KJ; Fairbrother, William G WG; Carter, Hannah H; Chung, Wendy K WK; Huang, Kuan-Lin KL

Publication Date: 2021-09-09

Variant appearance in text: WNT10A: C107*

PubMed Link: 34503567

Variant Present in the following documents:

• 13073_2021_964_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Gastrointestinal symptoms in patients with isolated oligodontia and a Wnt gene mutation.

Oral Diseases

Ross, Jamila N JN; Ruigrok, Lisanne C LC; Fennis, Willem M M WMM; Cune, Marco S MS; Rosenberg, Antoine J W P AJWP; van Nunen, Annick B AB; Créton, Marijn A MA; Ploos van Amstel, Hans-Kristian HK; van den Boogaard, Marie-José J H MJH

Publication Date: 2021-07-06

Variant appearance in text: WNT10A: Cys107*

PubMed Link: 34228861

Variant Present in the following documents:

• Main text
• ODI-29-300.pdf

View BVdb publication page

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Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry

Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ

Publication Date: 2021-09

Variant appearance in text: WNT10A: C107X

PubMed Link: 33483695

Variant Present in the following documents:

• 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Congenital Hair Anomaly in Association with Hypodontia of Permanent Teeth: A Quiz.

Acta Dermato-Venereologica

Stieler, Karola Maria KM; Bartzela, Theodosia T; Finke, Christian C; Blume-Peytavi, Ulrike U; Fischer, Judith J

Publication Date: 2020-07-28

Variant appearance in text: WNT10A: 321C>A; Cys107*

PubMed Link: 32619014

Variant Present in the following documents:

• Main text
• ActaDV-100-14-5841.pdf

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: WNT10A: 321C>A; Cys107*; rs121908119

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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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: WNT10A: 321C>A; Cys107Ter; rs121908119

PubMed Link: 31802016

Variant Present in the following documents:

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

View BVdb publication page

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EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population.

Orphanet Journal Of Rare Diseases

Martínez-Romero, María Carmen MC; Ballesta-Martínez, María Juliana MJ; López-González, Vanesa V; Sánchez-Soler, María José MJ; Serrano-Antón, Ana Teresa AT; Barreda-Sánchez, María M; Rodriguez-Peña, Lidya L; Martínez-Menchon, María Teresa MT; Frías-Iniesta, José J; Sánchez-Pedreño, Paloma P; Carbonell-Meseguer, Pablo P; Glover-López, Guillermo G; Guillén-Navarro, Encarna E; ,

Publication Date: 2019-12-03

Variant appearance in text: WNT10A: 321C>A; Cys107*

PubMed Link: 31796081

Variant Present in the following documents:

• Main text
• 13023_2019_Article_1251.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: WNT10A: 321C>A; Cys107*; rs121908119

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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: WNT10A: C107X; rs121908119

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.

Human Genetics

Du, Renqian R; Dinckan, Nuriye N; Song, Xiaofei X; Coban-Akdemir, Zeynep Z; Jhangiani, Shalini N SN; Guven, Yeliz Y; Aktoren, Oya O; Kayserili, Hulya H; Petty, Lauren E LE; Muzny, Donna M DM; Below, Jennifer E JE; Boerwinkle, Eric E; Wu, Nan N; Gibbs, Richard A RA; Posey, Jennifer E JE; Lupski, James R JR; Letra, Ariadne A; Uyguner, Z Oya ZO

Publication Date: 2018-09

Variant appearance in text: WNT10A: 321C>A; Cys107*

PubMed Link: 30046887

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Changing Landscape in the Genetic Etiology of Human Tooth Agenesis.

Genes

Williams, Meredith A MA; Letra, Ariadne A

Publication Date: 2018-05-16

Variant appearance in text: WNT10A: Cys107*

PubMed Link: 29772684

Variant Present in the following documents:

• Main text
• genes-09-00255.pdf

View BVdb publication page

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Rare and Common Variants Conferring Risk of Tooth Agenesis.

Journal Of Dental Research

Jonsson, L L; Magnusson, T E TE; Thordarson, A A; Jonsson, T T; Geller, F F; Feenstra, B B; Melbye, M M; Nohr, E A EA; Vucic, S S; Dhamo, B B; Rivadeneira, F F; Ongkosuwito, E M EM; Wolvius, E B EB; Leslie, E J EJ; Marazita, M L ML; Howe, B J BJ; Moreno Uribe, L M LM; Alonso, I I; Santos, M M; Pinho, T T; Jonsson, R R; Audolfsson, G G; Gudmundsson, L L; Nawaz, M S MS; Olafsson, S S; Gustafsson, O O; Ingason, A A; Unnsteinsdottir, U U; Bjornsdottir, G G; Walters, G B GB; Zervas, M M; Oddsson, A A; Gudbjartsson, D F DF; Steinberg, S S; Stefansson, H H; Stefansson, K K

Publication Date: 2018-05

Variant appearance in text: WNT10A: Cys107Ter; rs121908119

PubMed Link: 29364747

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel EDA or EDAR Mutations Identified in Patients with X-Linked Hypohidrotic Ectodermal Dysplasia or Non-Syndromic Tooth Agenesis.

Genes

Zeng, Binghui B; Zhao, Qi Q; Li, Sijie S; Lu, Hui H; Lu, Jiaxuan J; Ma, Lan L; Zhao, Wei W; Yu, Dongsheng D

Publication Date: 2017-10-05

Variant appearance in text: WNT10A: 321C>A; Cys107*

PubMed Link: 28981473

Variant Present in the following documents:

• Main text
• genes-08-00259.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: WNT10A: 321C>A; Cys107Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency.

Bmc Medical Genetics

Bergendal, Birgitta B; Norderyd, Johanna J; Zhou, Xiaolei X; Klar, Joakim J; Dahl, Niklas N

Publication Date: 2016-11-24

Variant appearance in text: WNT10A: C107X

PubMed Link: 27881089

Variant Present in the following documents:

• Main text
• 12881_2016_Article_349.pdf

View BVdb publication page

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Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients.

Genes

Zeng, Binghui B; Xiao, Xue X; Li, Sijie S; Lu, Hui H; Lu, Jiaxuan J; Zhu, Ling L; Yu, Dongsheng D; Zhao, Wei W

Publication Date: 2016-09-19

Variant appearance in text: WNT10A: 321C>A; Cys107*

PubMed Link: 27657131

Variant Present in the following documents:

• Main text
• genes-07-00065.pdf

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: WNT10A: 321C>A; C107*; rs121908119

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: WNT10A: C107X

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

View BVdb publication page

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Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation.

Bmc Dermatology

Krøigård, Anne Bruun AB; Clemmensen, Ole O; Gjørup, Hans H; Hertz, Jens Michael JM; Bygum, Anette A

Publication Date: 2016-03-10

Variant appearance in text: WNT10A: 321C>A; Cys107*

PubMed Link: 26964878

Variant Present in the following documents:

• Main text
• 12895_2016_Article_40.pdf

View BVdb publication page

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A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.

Journal Of Medical Genetics

Prasad, Megana K MK; Geoffroy, Véronique V; Vicaire, Serge S; Jost, Bernard B; Dumas, Michael M; Le Gras, Stéphanie S; Switala, Marzena M; Gasse, Barbara B; Laugel-Haushalter, Virginie V; Paschaki, Marie M; Leheup, Bruno B; Droz, Dominique D; Dalstein, Amelie A; Loing, Adeline A; Grollemund, Bruno B; Muller-Bolla, Michèle M; Lopez-Cazaux, Séréna S; Minoux, Maryline M; Jung, Sophie S; Obry, Frédéric F; Vogt, Vincent V; Davideau, Jean-Luc JL; Davit-Beal, Tiphaine T; Kaiser, Anne-Sophie AS; Moog, Ute U; Richard, Béatrice B; Morrier, Jean-Jacques JJ; Duprez, Jean-Pierre JP; Odent, Sylvie S; Bailleul-Forestier, Isabelle I; Rousset, Monique Marie MM; Merametdijan, Laure L; Toutain, Annick A; Joseph, Clara C; Giuliano, Fabienne F; Dahlet, Jean-Christophe JC; Courval, Aymeric A; El Alloussi, Mustapha M; Laouina, Samir S; Soskin, Sylvie S; Guffon, Nathalie N; Dieux, Anne A; Doray, Bérénice B; Feierabend, Stephanie S; Ginglinger, Emmanuelle E; Fournier, Benjamin B; de la Dure Molla, Muriel M; Alembik, Yves Y; Tardieu, Corinne C; Clauss, François F; Berdal, Ariane A; Stoetzel, Corinne C; Manière, Marie Cécile MC; Dollfus, Hélène H; Bloch-Zupan, Agnès A

Publication Date: 2016-02

Variant appearance in text: WNT10A: C107*

PubMed Link: 26502894

Variant Present in the following documents:

• Main text

View BVdb publication page

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Taurodontism, variations in tooth number, and misshapened crowns in Wnt10a null mice and human kindreds.

Molecular Genetics & Genomic Medicine

Yang, Jie J; Wang, Shih-Kai SK; Choi, Murim M; Reid, Bryan M BM; Hu, Yuanyuan Y; Lee, Yuan-Ling YL; Herzog, Curtis R CR; Kim-Berman, Hera H; Lee, Moses M; Benke, Paul J PJ; Lloyd, K C Kent KC; Simmer, James P JP; Hu, Jan C-C JC

Publication Date: 2015-01

Variant appearance in text: WNT10A: 321C>A; C107*

PubMed Link: 25629078

Variant Present in the following documents:

• Main text
• mgg30003-0040.pdf

View BVdb publication page

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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: WNT10A: C107*

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-8.xlsx, sheet 1

View BVdb publication page

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Variability in dentofacial phenotypes in four families with WNT10A mutations.

European Journal Of Human Genetics : Ejhg

Vink, Christian P CP; Ockeloen, Charlotte W CW; ten Kate, Sietske S; Koolen, David A DA; Ploos van Amstel, Johannes Kristian JK; Kuijpers-Jagtman, Anne-Marie AM; van Heumen, Celeste C CC; Kleefstra, Tjitske T; Carels, Carine E L CE

Publication Date: 2014-09

Variant appearance in text: WNT10A: 321C>A; Cys107*

PubMed Link: 24398796

Variant Present in the following documents:

• Main text

View BVdb publication page

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Candidate gene analysis of tooth agenesis identifies novel mutations in six genes and suggests significant role for WNT and EDA signaling and allele combinations.

Plos One

Arte, Sirpa S; Parmanen, Satu S; Pirinen, Sinikka S; Alaluusua, Satu S; Nieminen, Pekka P

Publication Date: 2013

Variant appearance in text: WNT10A: C107X

PubMed Link: 23991204

Variant Present in the following documents:

• Main text
• pone.0073705.pdf

View BVdb publication page

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The genetic landscape of high-risk neuroblastoma.

Nature Genetics

Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM

Publication Date: 2013-03

Variant appearance in text: WNT10A: 321C>A; C107*; rs121908119

PubMed Link: 23334666

Variant Present in the following documents:

• NIHMS474900-supplement-8.xlsx, sheet 1
• NIHMS474900-supplement-8.xlsx, sheet 2

View BVdb publication page

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WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.

American Journal Of Human Genetics

Bohring, Axel A; Stamm, Thomas T; Spaich, Christiane C; Haase, Claudia C; Spree, Kerstin K; Hehr, Ute U; Hoffmann, Mandy M; Ledig, Susanne S; Sel, Saadettin S; Wieacker, Peter P; Röpke, Albrecht A

Publication Date: 2009-07

Variant appearance in text: WNT10A: 321C>A; C107X

PubMed Link: 19559398

Variant Present in the following documents:

• Main text

View BVdb publication page

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