Publications:

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: DOCK6: V45I; rs183060698

PubMed Link: 36413997

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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Update on the pathogenesis and genetics of Paget's disease of bone.

Frontiers In Cell And Developmental Biology

Gennari, Luigi L; Rendina, Domenico D; Merlotti, Daniela D; Cavati, Guido G; Mingiano, Christian C; Cosso, Roberta R; Materozzi, Maria M; Pirrotta, Filippo F; Abate, Veronica V; Calabrese, Marco M; Falchetti, Alberto A

Publication Date: 2022

Variant appearance in text: DOCK6: V45I

PubMed Link: 36035996

Variant Present in the following documents:

• Main text
• fcell-10-932065.pdf

View BVdb publication page

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Attenuated clinical and osteoclastic phenotypes of Paget's disease of bone linked to the p.Pro392Leu/SQSTM1 mutation by a rare variant in the DOCK6 gene.

Bmc Medical Genomics

Dessay, Mariam M; Couture, Emile E; Maaroufi, Halim H; Fournier, Frédéric F; Gagnon, Edith E; Droit, Arnaud A; Brown, Jacques P JP; Michou, Laëtitia L

Publication Date: 2022-03-03

Variant appearance in text: DOCK6: Val45Ile; rs183060698

PubMed Link: 35241069

Variant Present in the following documents:

• Main text
• 12920_2022_Article_1198.pdf

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021-10-19

Variant appearance in text: DOCK6: V45I; rs183060698

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 11
• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 4
• mmc2.xlsx, sheet 6
• mmc2.xlsx, sheet 9

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021

Variant appearance in text: DOCK6: V45I; rs183060698

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 9
• mmc2.xlsx, sheet 4
• mmc2.xlsx, sheet 11
• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 6

View BVdb publication page

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Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.

Neurological Sciences : Official Journal Of The Italian Neurological Society And Of The Italian Society Of Clinical Neurophysiology

Machnicki, Marcin M MM; Guglielmi, Valeria V; Pancheri, Elia E; Gualandi, Francesca F; Verriello, Lorenzo L; Pruszczyk, Katarzyna K; Kosinska, Joanna J; Sangalli, Antonella A; Rydzanicz, Malgorzata M; Romanelli, Maria Grazia MG; Neri, Marcella M; Ploski, Rafal R; Tonin, Paola P; Tomelleri, Giuliano G; Stoklosa, Tomasz T; Vattemi, Gaetano G

Publication Date: 2021-07

Variant appearance in text: DOCK6: 133G>A; Val45Ile

PubMed Link: 33170376

Variant Present in the following documents:

• 10072_2020_4876_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Frontiers In Genetics

Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS

Publication Date: 2019

Variant appearance in text: DOCK6: V45I; rs183060698

PubMed Link: 31681433

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 10

View BVdb publication page

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Exome sequencing identifies recurrent BCOR alterations and the absence of KLF2, TNFAIP3 and MYD88 mutations in splenic diffuse red pulp small B-cell lymphoma.

Haematologica

Jallades, Laurent L; Baseggio, Lucile L; Sujobert, Pierre P; Huet, Sarah S; Chabane, Kaddour K; Callet-Bauchu, Evelyne E; Verney, Aurélie A; Hayette, Sandrine S; Desvignes, Jean-Pierre JP; Salgado, David D; Levy, Nicolas N; Béroud, Christophe C; Felman, Pascale P; Berger, Françoise F; Magaud, Jean-Pierre JP; Genestier, Laurent L; Salles, Gilles G; Traverse-Glehen, Alexandra A

Publication Date: 2017-10

Variant appearance in text: DOCK6: 133G>A; Val45Ile

PubMed Link: 28751561

Variant Present in the following documents:

• 2016.160192.JALLADES_SUPPL.pdf

View BVdb publication page

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