Publications:

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Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification.

Frontiers In Physiology

Bloch-Zupan, Agnes A; Rey, Tristan T; Jimenez-Armijo, Alexandra A; Kawczynski, Marzena M; Kharouf, Naji N; , ; Dure-Molla, Muriel de La M; Noirrit, Emmanuelle E; Hernandez, Magali M; Joseph-Beaudin, Clara C; Lopez, Serena S; Tardieu, Corinne C; Thivichon-Prince, Béatrice B; , ; Dostalova, Tatjana T; Macek, Milan M; , ; Alloussi, Mustapha El ME; Qebibo, Leila L; Morkmued, Supawich S; Pungchanchaikul, Patimaporn P; Orellana, Blanca Urzúa BU; Manière, Marie-Cécile MC; Gérard, Bénédicte B; Bugueno, Isaac Maximiliano IM; Laugel-Haushalter, Virginie V

Publication Date: 2023

Variant appearance in text: WNT10A: 682T>A; Phe228Ile

PubMed Link: 37228816

Variant Present in the following documents:

• Main text
• fphys-14-1130175.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: WNT10A: 682T>A; Phe228Ile

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM5_ESM.xlsx, sheet 4

View BVdb publication page

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Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.

Journal Of Personalized Medicine

Wildin, Robert S RS; Gerrard, Diana L DL; Leonard, Debra G B DGB

Publication Date: 2022-11-28

Variant appearance in text: WNT10A: Phe228Ile

PubMed Link: 36556183

Variant Present in the following documents:

• jpm-12-01962.pdf

View BVdb publication page

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Novel Candidate Genes for Non-Syndromic Tooth Agenesis Identified Using Targeted Next-Generation Sequencing.

Journal Of Clinical Medicine

Biedziak, Barbara B; Firlej, Ewa E; Dąbrowska, Justyna J; Bogdanowicz, Agnieszka A; Zadurska, Małgorzata M; Mostowska, Adrianna A

Publication Date: 2022-10-15

Variant appearance in text: WNT10A: 682T>A; Phe228Ile; rs121908120

PubMed Link: 36294409

Variant Present in the following documents:

• Main text
• jcm-11-06089.pdf

View BVdb publication page

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Functional and clinical analysis of five EDA variants associated with ectodermal dysplasia but with a hard-to-predict significance.

Frontiers In Genetics

Gökdere, Sare S; Schneider, Holm H; Hehr, Ute U; Willen, Laure L; Schneider, Pascal P; Maier-Wohlfart, Sigrun S

Publication Date: 2022

Variant appearance in text: WNT10A: 682T>A; Phe228Ile

PubMed Link: 35923710

Variant Present in the following documents:

• Main text
• fgene-13-934395.pdf

View BVdb publication page

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Best practices for the interpretation and reporting of clinical whole genome sequencing.

Npj Genomic Medicine

Austin-Tse, Christina A CA; Jobanputra, Vaidehi V; Perry, Denise L DL; Bick, David D; Taft, Ryan J RJ; Venner, Eric E; Gibbs, Richard A RA; Young, Ted T; Barnett, Sarah S; Belmont, John W JW; Boczek, Nicole N; Chowdhury, Shimul S; Ellsworth, Katarzyna A KA; Guha, Saurav S; Kulkarni, Shashikant S; Marcou, Cherisse C; Meng, Linyan L; Murdock, David R DR; Rehman, Atteeq U AU; Spiteri, Elizabeth E; Thomas-Wilson, Amanda A; Kearney, Hutton M HM; Rehm, Heidi L HL; ,

Publication Date: 2022-04-08

Variant appearance in text: WNT10A: 682T>A; Phe228Ile

PubMed Link: 35395838

Variant Present in the following documents:

• 41525_2022_295_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic associations of protein-coding variants in human disease.

Nature

Sun, Benjamin B BB; Kurki, Mitja I MI; Foley, Christopher N CN; Mechakra, Asma A; Chen, Chia-Yen CY; Marshall, Eric E; Wilk, Jemma B JB; , ; Chahine, Mohamed M; Chevalier, Philippe P; Christé, Georges G; , ; Palotie, Aarno A; Daly, Mark J MJ; Runz, Heiko H

Publication Date: 2022-03

Variant appearance in text: WNT10A: F228I; rs121908120

PubMed Link: 35197637

Variant Present in the following documents:

• Main text
• 41586_2022_Article_4394.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: F228I; rs121908120

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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Causal Association between Periodontal Diseases and Cardiovascular Diseases.

Genes

Zhou, Mengchen M; Dong, Jiangtao J; Zha, Lingfeng L; Liao, Yuhua Y

Publication Date: 2021-12-22

Variant appearance in text: rs121908120

PubMed Link: 35052354

Variant Present in the following documents:

• Main text
• genes-13-00013.pdf

View BVdb publication page

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Causal Association between Periodontal Diseases and Cardiovascular Diseases.

Genes

Zhou, Mengchen M; Dong, Jiangtao J; Zha, Lingfeng L; Liao, Yuhua Y

Publication Date: 2021-12-22

Variant appearance in text: rs121908120

PubMed Link: 35052354

Variant Present in the following documents:

• Main text
• genes-13-00013.pdf

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: 682T>A; Phe228Ile

PubMed Link: 34593752

Variant Present in the following documents:

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

View BVdb publication page

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A study of elective genome sequencing and pharmacogenetic testing in an unselected population.

Molecular Genetics & Genomic Medicine

Cochran, Meagan M; East, Kelly K; Greve, Veronica V; Kelly, Melissa M; Kelley, Whitley W; Moore, Troy T; Myers, Richard M RM; Odom, Katherine K; Schroeder, Molly C MC; Bick, David D

Publication Date: 2021-09

Variant appearance in text: WNT10A: 682T>A; F228I

PubMed Link: 34313030

Variant Present in the following documents:

• Main text
• MGG3-9-e1766.pdf

View BVdb publication page

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A study of elective genome sequencing and pharmacogenetic testing in an unselected population.

Molecular Genetics & Genomic Medicine

Cochran, Meagan M; East, Kelly K; Greve, Veronica V; Kelly, Melissa M; Kelley, Whitley W; Moore, Troy T; Myers, Richard M RM; Odom, Katherine K; Schroeder, Molly C MC; Bick, David D

Publication Date: 2021-09

Variant appearance in text: WNT10A: 682T>A; F228I

PubMed Link: 34313030

Variant Present in the following documents:

• Main text
• MGG3-9-e1766.pdf

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: Phe228Ile

PubMed Link: 34228861

Variant Present in the following documents:

• Main text
• ODI-29-300.pdf

View BVdb publication page

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Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype.

American Journal Of Medical Genetics. Part A

Ewing, Adam D AD; Cheetham, Seth W SW; McGill, James J JJ; Sharkey, Michael M; Walker, Rick R; West, Jennifer A JA; West, Malcolm J MJ; Summers, Kim M KM

Publication Date: 2021-07

Variant appearance in text: WNT10A: Phe228Ile; rs121908120

PubMed Link: 33960642

Variant Present in the following documents:

• Main text

View BVdb publication page

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Gene variants associated with acne vulgaris presentation and severity: a systematic review and meta-analysis.

Bmc Medical Genomics

Heng, Anna Hwee Sing AHS; Say, Yee-How YH; Sio, Yang Yie YY; Ng, Yu Ting YT; Chew, Fook Tim FT

Publication Date: 2021-04-13

Variant appearance in text: WNT10A: Phe228Ile; rs121908120

PubMed Link: 33849530

Variant Present in the following documents:

• Main text
• 12920_2021_Article_953.pdf

View BVdb publication page

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Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color.

Science Advances

Simcoe, Mark M; Valdes, Ana A; Liu, Fan F; Furlotte, Nicholas A NA; Evans, David M DM; Hemani, Gibran G; Ring, Susan M SM; Smith, George Davey GD; Duffy, David L DL; Zhu, Gu G; Gordon, Scott D SD; Medland, Sarah E SE; Vuckovic, Dragana D; Girotto, Giorgia G; Sala, Cinzia C; Catamo, Eulalia E; Concas, Maria Pina MP; Brumat, Marco M; Gasparini, Paolo P; Toniolo, Daniela D; Cocca, Massimiliano M; Robino, Antonietta A; Yazar, Seyhan S; Hewitt, Alex A; Wu, Wenting W; Kraft, Peter P; Hammond, Christopher J CJ; Shi, Yuan Y; Chen, Yan Y; Zeng, Changqing C; Klaver, Caroline C W CCW; Uitterlinden, Andre G AG; Ikram, M Arfan MA; Hamer, Merel A MA; van Duijn, Cornelia M CM; Nijsten, Tamar T; Han, Jiali J; Mackey, David A DA; Martin, Nicholas G NG; Cheng, Ching-Yu CY; , ; , ; Hinds, David A DA; Spector, Timothy D TD; Kayser, Manfred M; Hysi, Pirro G PG

Publication Date: 2021-03

Variant appearance in text: rs121908120

PubMed Link: 33692100

Variant Present in the following documents:

• Main text
• abd1239.pdf

View BVdb publication page

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Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color.

Science Advances

Simcoe, Mark M; Valdes, Ana A; Liu, Fan F; Furlotte, Nicholas A NA; Evans, David M DM; Hemani, Gibran G; Ring, Susan M SM; Smith, George Davey GD; Duffy, David L DL; Zhu, Gu G; Gordon, Scott D SD; Medland, Sarah E SE; Vuckovic, Dragana D; Girotto, Giorgia G; Sala, Cinzia C; Catamo, Eulalia E; Concas, Maria Pina MP; Brumat, Marco M; Gasparini, Paolo P; Toniolo, Daniela D; Cocca, Massimiliano M; Robino, Antonietta A; Yazar, Seyhan S; Hewitt, Alex A; Wu, Wenting W; Kraft, Peter P; Hammond, Christopher J CJ; Shi, Yuan Y; Chen, Yan Y; Zeng, Changqing C; Klaver, Caroline C W CCW; Uitterlinden, Andre G AG; Ikram, M Arfan MA; Hamer, Merel A MA; van Duijn, Cornelia M CM; Nijsten, Tamar T; Han, Jiali J; Mackey, David A DA; Martin, Nicholas G NG; Cheng, Ching-Yu CY; , ; , ; Hinds, David A DA; Spector, Timothy D TD; Kayser, Manfred M; Hysi, Pirro G PG

Publication Date: 2021-03

Variant appearance in text: rs121908120

PubMed Link: 33692100

Variant Present in the following documents:

• Main text
• abd1239.pdf

View BVdb publication page

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The Temple Grandin Genome: Comprehensive Analysis in a Scientist with High-Functioning Autism.

Journal Of Personalized Medicine

Vanzo, Rena J RJ; Prasad, Aparna A; Staunch, Lauren L; Hensel, Charles H CH; Serrano, Moises A MA; Wassman, E Robert ER; Kaplun, Alexander A; Grandin, Temple T; Boles, Richard G RG

Publication Date: 2020-12-29

Variant appearance in text: WNT10A: 682T>A; Phe228Ile; rs121908120

PubMed Link: 33383702

Variant Present in the following documents:

• Main text

View BVdb publication page

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Fine-mapping and cell-specific enrichment at corneal resistance factor loci prioritize candidate causal regulatory variants.

Communications Biology

Jiang, Xinyi X; Dellepiane, Nefeli N; Pairo-Castineira, Erola E; Boutin, Thibaud T; Kumar, Yatendra Y; Bickmore, Wendy A WA; Vitart, Veronique V

Publication Date: 2020-12-11

Variant appearance in text: rs121908120

PubMed Link: 33311554

Variant Present in the following documents:

• Main text
• 42003_2020_Article_1497.pdf

View BVdb publication page

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Reference exome data for a Northern Brazilian population.

Scientific Data

Weeks, Alexia L AL; Francis, Richard W RW; Neri, Joao I C F JICF; Costa, Nathaly M C NMC; Arrais, Nivea M R NMR; Lassmann, Timo T; Blackwell, Jenefer M JM; Jeronimo, Selma M B SMB

Publication Date: 2020-10-21

Variant appearance in text: WNT10A: 682T>A; Phe228Ile; rs121908120

PubMed Link: 33087711

Variant Present in the following documents:

• 41597_2020_703_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Heterozygous Cystic Fibrosis Transmembrane Regulator Gene Missense Variants Are Associated With Worse Cardiac Function in Patients With Duchenne Muscular Dystrophy.

Journal Of The American Heart Association

Jiang, Xuan X; Shao, Yanqiu Y; Araj, Faris G FG; Amin, Alpesh A AA; Greenberg, Benjamin M BM; Drazner, Mark H MH; Xing, Chao C; Mammen, Pradeep P A PPA

Publication Date: 2020-10-20

Variant appearance in text: WNT10A: Phe228Ile; rs121908120

PubMed Link: 33003980

Variant Present in the following documents:

• JAH3-9-e016799-s001.pdf

View BVdb publication page

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WNT10A Mutation Causes Ectodermal Dysplasia in a Patient Mosaic for Turner Syndrome.

The Journal Of Clinical And Aesthetic Dermatology

Pasadyn, Selena R SR; Haseley, Alexandria A; Irfan, Mahwish M

Publication Date: 2020-06

Variant appearance in text: WNT10A: 682T>A; Phe228Ile

PubMed Link: 32884623

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide association study of corneal biomechanical properties identifies over 200 loci providing insight into the genetic etiology of ocular diseases.

Human Molecular Genetics

Simcoe, Mark J MJ; Khawaja, Anthony P AP; Hysi, Pirro G PG; Hammond, Christopher J CJ; ,

Publication Date: 2020-11-04

Variant appearance in text: rs121908120

PubMed Link: 32716492

Variant Present in the following documents:

• Main text
• ddaa155.pdf

View BVdb publication page

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A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound.

Prenatal Diagnosis

Corsten-Janssen, Nicole N; Bouman, Katelijne K; Diphoorn, Janouk C D JCD; Scheper, Arjen J AJ; Kinds, Rianne R; El Mecky, Julia J; Breet, Hanna H; Verheij, Joke B G M JBGM; Suijkerbuijk, Ron R; Duin, Leonie K LK; Manten, Gwendolyn T R GTR; van Langen, Irene M IM; Sijmons, Rolf H RH; Sikkema-Raddatz, Birgit B; Westers, Helga H; van Diemen, Cleo C CC

Publication Date: 2020-09

Variant appearance in text: WNT10A: 682T>A; Phe228Ile

PubMed Link: 32627857

Variant Present in the following documents:

• Main text

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: 682T>A; Phe228Ile

PubMed Link: 32619014

Variant Present in the following documents:

• Main text
• ActaDV-100-14-5841.pdf

View BVdb publication page

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Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia.

Nature Genetics

Hysi, Pirro G PG; Choquet, Hélène H; Khawaja, Anthony P AP; Wojciechowski, Robert R; Tedja, Milly S MS; Yin, Jie J; Simcoe, Mark J MJ; Patasova, Karina K; Mahroo, Omar A OA; Thai, Khanh K KK; Cumberland, Phillippa M PM; Melles, Ronald B RB; Verhoeven, Virginie J M VJM; Vitart, Veronique V; Segre, Ayellet A; Stone, Richard A RA; Wareham, Nick N; Hewitt, Alex W AW; Mackey, David A DA; Klaver, Caroline C W CCW; MacGregor, Stuart S; , ; Khaw, Peng T PT; Foster, Paul J PJ; , ; Guggenheim, Jeremy A JA; , ; Rahi, Jugnoo S JS; Jorgenson, Eric E; Hammond, Christopher J CJ

Publication Date: 2020-04

Variant appearance in text: rs121908120

PubMed Link: 32231278

Variant Present in the following documents:

• Main text
• EMS85881.pdf

View BVdb publication page

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Whole-genome analysis uncovers recurrent IKZF1 inactivation and aberrant cell adhesion in blastic plasmacytoid dendritic cell neoplasm.

Genes, Chromosomes & Cancer

Bastidas Torres, Armando N AN; Cats, Davy D; Mei, Hailiang H; Fanoni, Daniele D; Gliozzo, Jessica J; Corti, Laura L; Paulli, Marco M; Vermeer, Maarten H MH; Willemze, Rein R; Berti, Emilio E; Tensen, Cornelis P CP

Publication Date: 2020-05

Variant appearance in text: WNT10A: 682T>A; F228I; rs121908120

PubMed Link: 31846142

Variant Present in the following documents:

• GCC-59-295-s002.xlsx, sheet 12

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: 682T>A; Phe228Ile; rs121908120

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14

View BVdb publication page

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Case Report of Childhood-Onset Psychosis in a Patient with a Known WNT10A Mutation.

Journal Of The Canadian Academy Of Child And Adolescent Psychiatry = Journal De L'Academie Canadienne De Psychiatrie De L'Enfant Et De L'Adolescent

Kobza, Alexandra O AO; Alenezi, Shuliweeh S

Publication Date: 2019-11

Variant appearance in text: WNT10A: 682T>A; F228I

PubMed Link: 31798653

Variant Present in the following documents:

• Main text

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: 682T>A; Phe228Ile

PubMed Link: 31796081

Variant Present in the following documents:

• Main text
• 13023_2019_Article_1251.pdf

View BVdb publication page

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Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.

Pediatric Research

Ziats, Mark N MN; Ahmad, Ayesha A; Bernat, John A JA; Fisher, Rachel R; Glassford, Megan M; Hannibal, Mark C MC; Jacher, Joseph E JE; Weiser, Natasha N; Keegan, Catherine E CE; Lee, Kristen N KN; Marzulla, Tessa B TB; O'Connor, Bridget C BC; Quinonez, Shane C SC; Seemann, Lauren L; Turner, Lauren L; Bielas, Stephanie S; Harris, Nicholas L NL; Ogle, Jacob D JD; Innis, Jeffrey W JW; Martin, Donna M DM

Publication Date: 2020-03

Variant appearance in text: WNT10A: 682T>A; F228I

PubMed Link: 31618753

Variant Present in the following documents:

• NIHMS1541080-supplement-Supp_Tables_1-2.xlsx, sheet 1

View BVdb publication page

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Genome-wide analysis of dental caries and periodontitis combining clinical and self-reported data.

Nature Communications

Shungin, Dmitry D; Haworth, Simon S; Divaris, Kimon K; Agler, Cary S CS; Kamatani, Yoichiro Y; Keun Lee, Myoung M; Grinde, Kelsey K; Hindy, George G; Alaraudanjoki, Viivi V; Pesonen, Paula P; Teumer, Alexander A; Holtfreter, Birte B; Sakaue, Saori S; Hirata, Jun J; Yu, Yau-Hua YH; Ridker, Paul M PM; Giulianini, Franco F; Chasman, Daniel I DI; Magnusson, Patrik K E PKE; Sudo, Takeaki T; Okada, Yukinori Y; Völker, Uwe U; Kocher, Thomas T; Anttonen, Vuokko V; Laitala, Marja-Liisa ML; Orho-Melander, Marju M; Sofer, Tamar T; Shaffer, John R JR; Vieira, Alexandre A; Marazita, Mary L ML; Kubo, Michiaki M; Furuichi, Yasushi Y; North, Kari E KE; Offenbacher, Steve S; Ingelsson, Erik E; Franks, Paul W PW; Timpson, Nicholas J NJ; Johansson, Ingegerd I

Publication Date: 2019-06-24

Variant appearance in text: rs121908120

PubMed Link: 31235808

Variant Present in the following documents:

• Main text
• 41467_2019_10630_MOESM1_ESM.pdf
• 41467_2019_Article_10630.pdf
• 41467_2019_10630_MOESM2_ESM.pdf

View BVdb publication page

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Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density.

Nature Communications

Ivarsdottir, Erna V EV; Benonisdottir, Stefania S; Thorleifsson, Gudmar G; Sulem, Patrick P; Oddsson, Asmundur A; Styrkarsdottir, Unnur U; Kristmundsdottir, Snaedis S; Arnadottir, Gudny A GA; Thorgeirsson, Gudmundur G; Jonsdottir, Ingileif I; Zoega, Gunnar M GM; Thorsteinsdottir, Unnur U; Gudbjartsson, Daniel F DF; Jonasson, Fridbert F; Holm, Hilma H; Stefansson, Kari K

Publication Date: 2019-03-20

Variant appearance in text: rs121908120

PubMed Link: 30894546

Variant Present in the following documents:

• Main text
• 41467_2019_Article_9304.pdf

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: rs121908120

PubMed Link: 30858532

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide meta-analysis implicates mediators of hair follicle development and morphogenesis in risk for severe acne.

Nature Communications

Petridis, Christos C; Navarini, Alexander A AA; Dand, Nick N; Saklatvala, Jake J; Baudry, David D; Duckworth, Michael M; Allen, Michael H MH; Curtis, Charles J CJ; Lee, Sang Hyuck SH; Burden, A David AD; Layton, Alison A; Bataille, Veronique V; Pink, Andrew E AE; , ; Carlavan, Isabelle I; Voegel, Johannes J JJ; Spector, Timothy D TD; Trembath, Richard C RC; McGrath, John A JA; Smith, Catherine H CH; Barker, Jonathan N JN; Simpson, Michael A MA

Publication Date: 2018-12-12

Variant appearance in text: WNT10A: F228I; rs121908120

PubMed Link: 30542056

Variant Present in the following documents:

• Main text
• 41467_2018_7459_MOESM1_ESM.pdf
• 41467_2018_Article_7459.pdf

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The LIN28B-IMP1 post-transcriptional regulon has opposing effects on oncogenic signaling in the intestine.

Genes & Development

Chatterji, Priya P; Hamilton, Kathryn E KE; Liang, Shun S; Andres, Sarah F SF; Wijeratne, H R Sagara HRS; Mizuno, Rei R; Simon, Lauren A LA; Hicks, Philip D PD; Foley, Shawn W SW; Pitarresi, Jason R JR; Klein-Szanto, Andres J AJ; Mah, Amanda T AT; Van Landeghem, Laurianne L; Gregory, Brian D BD; Lengner, Christopher J CJ; Madison, Blair B BB; Shah, Premal P; Rustgi, Anil K AK

Publication Date: 2018-08-01

Variant appearance in text: WNT10A: Phe228Ile

PubMed Link: 30068703

Variant Present in the following documents:

• supp_32.15-16.1020_Supplemental_Table_S10.xls, sheet 1

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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: 682T>A; Phe228Ile; rs121908120

PubMed Link: 30046887

Variant Present in the following documents:

• Main text

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Multi-OMICS analyses unveil STAT1 as a potential modifier gene in mevalonate kinase deficiency.

Annals Of The Rheumatic Diseases

Carapito, Raphael R; Carapito, Christine C; Morlon, Aurore A; Paul, Nicodème N; Vaca Jacome, Alvaro Sebastian AS; Alsaleh, Ghada G; Rolli, Véronique V; Tahar, Ouria O; Aouadi, Ismail I; Rompais, Magali M; Delalande, François F; Pichot, Angélique A; Georgel, Philippe P; Messer, Laurent L; Sibilia, Jean J; Cianferani, Sarah S; Van Dorsselaer, Alain A; Bahram, Seiamak S

Publication Date: 2018-11

Variant appearance in text: WNT10A: F228I; rs121908120

PubMed Link: 30030262

Variant Present in the following documents:

• annrheumdis-2018-213524supp002.xlsx, sheet 1

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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: 682T>A; Phe228Ile

PubMed Link: 29772684

Variant Present in the following documents:

• Main text
• genes-09-00255.pdf

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Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.

Nature Communications

Iglesias, Adriana I AI; Mishra, Aniket A; Vitart, Veronique V; Bykhovskaya, Yelena Y; Höhn, René R; Springelkamp, Henriët H; Cuellar-Partida, Gabriel G; Gharahkhani, Puya P; Bailey, Jessica N Cooke JNC; Willoughby, Colin E CE; Li, Xiaohui X; Yazar, Seyhan S; Nag, Abhishek A; Khawaja, Anthony P AP; Polašek, Ozren O; Siscovick, David D; Mitchell, Paul P; Tham, Yih Chung YC; Haines, Jonathan L JL; Kearns, Lisa S LS; Hayward, Caroline C; Shi, Yuan Y; van Leeuwen, Elisabeth M EM; Taylor, Kent D KD; , ; Bonnemaijer, Pieter P; Rotter, Jerome I JI; Martin, Nicholas G NG; Zeller, Tanja T; Mills, Richard A RA; Souzeau, Emmanuelle E; Staffieri, Sandra E SE; Jonas, Jost B JB; Schmidtmann, Irene I; Boutin, Thibaud T; Kang, Jae H JH; Lucas, Sionne E M SEM; Wong, Tien Yin TY; Beutel, Manfred E ME; Wilson, James F JF; , ; , ; Uitterlinden, André G AG; Vithana, Eranga N EN; Foster, Paul J PJ; Hysi, Pirro G PG; Hewitt, Alex W AW; Khor, Chiea Chuen CC; Pasquale, Louis R LR; Montgomery, Grant W GW; Klaver, Caroline C W CCW; Aung, Tin T; Pfeiffer, Norbert N; Mackey, David A DA; Hammond, Christopher J CJ; Cheng, Ching-Yu CY; Craig, Jamie E JE; Rabinowitz, Yaron S YS; Wiggs, Janey L JL; Burdon, Kathryn P KP; van Duijn, Cornelia M CM; MacGregor, Stuart S

Publication Date: 2018-05-14

Variant appearance in text: rs121908120

PubMed Link: 29760442

Variant Present in the following documents:

• Main text

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Pathogenesis of Keratoconus: The intriguing therapeutic potential of Prolactin-inducible protein.

Progress In Retinal And Eye Research

Sharif, Rabab R; Bak-Nielsen, Sashia S; Hjortdal, Jesper J; Karamichos, Dimitrios D

Publication Date: 2018-11

Variant appearance in text: rs121908120

PubMed Link: 29758268

Variant Present in the following documents:

• Main text

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Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications

Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M

Publication Date: 2018-02-15

Variant appearance in text: WNT10A: F228I; rs121908120

PubMed Link: 29449575

Variant Present in the following documents:

• 41467_2017_2688_MOESM14_ESM.xls, sheet 3

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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: Phe228Ile; rs121908120

PubMed Link: 29364747

Variant Present in the following documents:

• Main text

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Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget

Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K

Publication Date: 2017-11-21

Variant appearance in text: WNT10A: 682T>A; F228I; rs121908120

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s002.xlsx, sheet 1
• oncotarget-08-99237-s003.xlsx, sheet 1

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Role of WNT10A in failure of tooth development in humans and zebrafish.

Molecular Genetics & Genomic Medicine

Yuan, Qiuping Q; Zhao, Min M; Tandon, Bhavna B; Maili, Lorena L; Liu, Xiaoming X; Zhang, Anqi A; Baugh, Evan H EH; Tran, Tam T; Silva, Renato M RM; Hecht, Jacqueline T JT; Swindell, Eric C EC; Wagner, Daniel S DS; Letra, Ariadne A

Publication Date: 2017-11

Variant appearance in text: WNT10A: 682T>A; Phe228Ile

PubMed Link: 29178643

Variant Present in the following documents:

• Main text
• MGG3-5-730.pdf

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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: 682T>A; Phe228Ile

PubMed Link: 28981473

Variant Present in the following documents:

• Main text
• genes-08-00259.pdf

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Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis.

Journal Of Dental Research

Dinckan, N N; Du, R R; Petty, L E LE; Coban-Akdemir, Z Z; Jhangiani, S N SN; Paine, I I; Baugh, E H EH; Erdem, A P AP; Kayserili, H H; Doddapaneni, H H; Hu, J J; Muzny, D M DM; Boerwinkle, E E; Gibbs, R A RA; Lupski, J R JR; Uyguner, Z O ZO; Below, J E JE; Letra, A A

Publication Date: 2018-01

Variant appearance in text: WNT10A: 682T>A; F228I

PubMed Link: 28813618

Variant Present in the following documents:

• Main text

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Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.

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

Tarailo-Graovac, Maja M; Zhu, Jing Yun Alice JYA; Matthews, Allison A; van Karnebeek, Clara D M CDM; Wasserman, Wyeth W WW

Publication Date: 2017-12

Variant appearance in text: WNT10A: F228I; rs121908120

PubMed Link: 28471432

Variant Present in the following documents:

• gim201750x2.xlsx, sheet 2

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