Publications:

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: CDH1: 2269G>A; Glu757Lys

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Bmc Cancer

Xiao, Jian J; Li, Wenyun W; Huang, Yan Y; Huang, Mengli M; Li, Shanshan S; Zhai, Xiaohui X; Zhao, Jing J; Gao, Chan C; Xie, Wenzhuan W; Qin, Hao H; Cai, Shangli S; Bai, Yuezong Y; Lan, Ping P; Zou, Yifeng Y

Publication Date: 2021-03-16

Variant appearance in text: CDH1: 2269G>A; E757K

PubMed Link: 33726687

Variant Present in the following documents:

• 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Genome Medicine

Kanavy, Dona M DM; McNulty, Shannon M SM; Jairath, Meera K MK; Brnich, Sarah E SE; Bizon, Chris C; Powell, Bradford C BC; Berg, Jonathan S JS

Publication Date: 2019-11-29

Variant appearance in text: CDH1: 2269G>A; E757K

PubMed Link: 31783775

Variant Present in the following documents:

• 13073_2019_683_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Quantification of mutant E-cadherin using bioimaging analysis of in situ fluorescence microscopy. A new approach to CDH1 missense variants.

European Journal Of Human Genetics : Ejhg

Sanches, João Miguel JM; Figueiredo, Joana J; Fonseca, Martina M; Durães, Cecília C; Melo, Soraia S; Esménio, Sofia S; Seruca, Raquel R

Publication Date: 2015-08

Variant appearance in text: CDH1: 2269G>A; Glu757Lys

PubMed Link: 25388006

Variant Present in the following documents:

• Main text
• ejhg2014240a.pdf

View BVdb publication page

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The importance of E-cadherin binding partners to evaluate the pathogenicity of E-cadherin missense mutations associated to HDGC.

European Journal Of Human Genetics : Ejhg

Figueiredo, Joana J; Söderberg, Ola O; Simões-Correia, Joana J; Grannas, Karin K; Suriano, Gianpaolo G; Seruca, Raquel R

Publication Date: 2013-03

Variant appearance in text: CDH1: E757K

PubMed Link: 22850631

Variant Present in the following documents:

• Main text

View BVdb publication page

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ADP-ribosylation factor 6 mediates E-cadherin recovery by chemical chaperones.

Plos One

Figueiredo, Joana J; Simões-Correia, Joana J; Söderberg, Ola O; Suriano, Gianpaolo G; Seruca, Raquel R

Publication Date: 2011

Variant appearance in text: CDH1: E757K

PubMed Link: 21853084

Variant Present in the following documents:

• Main text
• pone.0023188.pdf

View BVdb publication page

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