Publications:

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Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Cell Reports. Medicine

Álvarez-Prado, Ángel F ÁF; Maas, Roeltje R RR; Soukup, Klara K; Klemm, Florian F; Kornete, Mara M; Krebs, Fanny S FS; Zoete, Vincent V; Berezowska, Sabina S; Brouland, Jean-Philippe JP; Hottinger, Andreas F AF; Daniel, Roy T RT; Hegi, Monika E ME; Joyce, Johanna A JA

Publication Date: 2023-01-17

Variant appearance in text: SOST: V10I

PubMed Link: 36652909

Variant Present in the following documents:

• mmc4.xlsx, sheet 7

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

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

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

Publication Date: 2022-11-15

Variant appearance in text: SOST: 28G>A; Val10Ile

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

View BVdb publication page

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: SOST: 28G>A; V10I

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Sclerostin: From Molecule to Clinical Biomarker.

International Journal Of Molecular Sciences

Omran, Ahmed A; Atanasova, Diana D; Landgren, Filip F; Magnusson, Per P

Publication Date: 2022-04-26

Variant appearance in text: SOST: Val10Ile; rs17882143

PubMed Link: 35563144

Variant Present in the following documents:

• Main text
• ijms-23-04751.pdf

View BVdb publication page

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Genetics and Genomics of SOST: Functional Analysis of Variants and Genomic Regulation in Osteoblasts.

International Journal Of Molecular Sciences

Martínez-Gil, Núria N; Roca-Ayats, Neus N; Cozar, Mónica M; Garcia-Giralt, Natàlia N; Ovejero, Diana D; Nogués, Xavier X; Grinberg, Daniel D; Balcells, Susanna S

Publication Date: 2021-01-06

Variant appearance in text: SOST: Val10Ile; rs17882143

PubMed Link: 33419004

Variant Present in the following documents:

• Main text
• ijms-22-00489.pdf

View BVdb publication page

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Highly diversified core promoters in the human genome and their effects on gene expression and disease predisposition.

Bmc Genomics

Gupta, Hemant H; Chandratre, Khyati K; Sinha, Siddharth S; Huang, Teng T; Wu, Xiaobing X; Cui, Jian J; Zhang, Michael Q MQ; Wang, San Ming SM

Publication Date: 2020-11-30

Variant appearance in text: rs17882143

PubMed Link: 33256598

Variant Present in the following documents:

• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 24
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: SOST: V10I; rs17882143

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Common and rare variants of WNT16, DKK1 and SOST and their relationship with bone mineral density.

Scientific Reports

Martínez-Gil, Núria N; Roca-Ayats, Neus N; Monistrol-Mula, Anna A; García-Giralt, Natàlia N; Díez-Pérez, Adolfo A; Nogués, Xavier X; Mellibovsky, Leonardo L; Grinberg, Daniel D; Balcells, Susana S

Publication Date: 2018-07-19

Variant appearance in text: SOST: Val10Ile; rs17882143

PubMed Link: 30026596

Variant Present in the following documents:

• Main text
• 41598_2018_29242_MOESM1_ESM.pdf
• 41598_2018_Article_29242.pdf

View BVdb publication page

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

Scientific Reports

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

Publication Date: 2017-04-25

Variant appearance in text: SOST: V10I; rs17882143

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 9

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: SOST: 28G>A; V10I; rs17882143

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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Mutations in Known Monogenic High Bone Mass Loci Only Explain a Small Proportion of High Bone Mass Cases.

Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research

Gregson, Celia L CL; Wheeler, Lawrie L; Hardcastle, Sarah A SA; Appleton, Louise H LH; Addison, Kathryn A KA; Brugmans, Marieke M; Clark, Graeme R GR; Ward, Kate A KA; Paggiosi, Margaret M; Stone, Mike M; Thomas, Joegi J; Agarwal, Rohan R; Poole, Kenneth E S KE; McCloskey, Eugene E; Fraser, William D WD; Williams, Eleanor E; Bullock, Alex N AN; Davey Smith, George G; Brown, Matthew A MA; Tobias, Jon H JH; Duncan, Emma L EL

Publication Date: 2016-03

Variant appearance in text: SOST: 28G>A; Val10Ile; rs17882143

PubMed Link: 26348019

Variant Present in the following documents:

• Main text
• JBMR-31-640.pdf

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: SOST: V10I; rs17882143

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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