Publications:

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Homozygous Autosomal Recessive DIAPH1 Mutation Associated with Central Nervous System Involvement and Aspergillosis: A Rare Case.

Case Reports In Genetics

Esmaeilzadeh, Hossein H; Noeiaghdam, Rafat R; Johari, Leila L; Hosseini, Seyed Ali SA; Nabavizadeh, Sayyed Hesamedin SH; Alyasin, Soheila Sadat SS

Publication Date: 2022

Variant appearance in text: DIAPH1: 2332C>T

PubMed Link: 36212620

Variant Present in the following documents:

• CRIG2022-4142214.pdf

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Role of Cytoskeletal Diaphanous-Related Formins in Hearing Loss.

Cells

Chiereghin, Chiara C; Robusto, Michela M; Massa, Valentina V; Castorina, Pierangela P; Ambrosetti, Umberto U; Asselta, Rosanna R; Soldà, Giulia G

Publication Date: 2022-05-24

Variant appearance in text: DIAPH1: 2332C>T

PubMed Link: 35681420

Variant Present in the following documents:

• Main text
• cells-11-01726.pdf

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Identification of KRAS G12V associated clonal neoantigens and immune microenvironment in long-term survival of pancreatic adenocarcinoma.

Cancer Immunology, Immunotherapy : Cii

Wang, Chao C; Shi, Min M; Zhang, Lei L; Ji, Jun J; Xie, Ruyan R; Wu, Chao C; Guo, Xianchao X; Yang, Ying Y; Zhou, Wei W; Peng, Chenhong C; Zhang, Henghui H; Yuan, Fei F; Zhang, Jun J

Publication Date: 2022-02

Variant appearance in text: DIAPH1: 2332C>T; Q778*

PubMed Link: 34255132

Variant Present in the following documents:

• 262_2021_3012_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Identification of KRAS G12V associated clonal neoantigens and immune microenvironment in long-term survival of pancreatic adenocarcinoma.

Cancer Immunology, Immunotherapy : Cii

Wang, Chao C; Shi, Min M; Zhang, Lei L; Ji, Jun J; Xie, Ruyan R; Wu, Chao C; Guo, Xianchao X; Yang, Ying Y; Zhou, Wei W; Peng, Chenhong C; Zhang, Henghui H; Yuan, Fei F; Zhang, Jun J

Publication Date: 2021-07-13

Variant appearance in text: DIAPH1: 2332C>T; Q778*

PubMed Link: 34255132

Variant Present in the following documents:

• 262_2021_3012_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Constitutive activation of DIA1 (DIAPH1) via C-terminal truncation causes human sensorineural hearing loss.

Embo Molecular Medicine

Ueyama, Takehiko T; Ninoyu, Yuzuru Y; Nishio, Shin-Ya SY; Miyoshi, Takushi T; Torii, Hiroko H; Nishimura, Koji K; Sugahara, Kazuma K; Sakata, Hideaki H; Thumkeo, Dean D; Sakaguchi, Hirofumi H; Watanabe, Naoki N; Usami, Shin-Ichi SI; Saito, Naoaki N; Kitajiri, Shin-Ichiro SI

Publication Date: 2016-11

Variant appearance in text: DIAPH1: Q778X

PubMed Link: 27707755

Variant Present in the following documents:

• Main text
• EMMM-8-1310.pdf

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Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.

American Journal Of Medical Genetics. Part A

Al-Maawali, Almundher A; Barry, Brenda J BJ; Rajab, Anna A; El-Quessny, Malak M; Seman, Ann A; Coury, Stephanie Newton SN; Barkovich, A James AJ; Yang, Edward E; Walsh, Christopher A CA; Mochida, Ganeshwaran H GH; Stoler, Joan M JM

Publication Date: 2016-02

Variant appearance in text: DIAPH1: 2332C>T

PubMed Link: 26463574

Variant Present in the following documents:

• Main text

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Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans.

European Journal Of Human Genetics : Ejhg

Ercan-Sencicek, A Gulhan AG; Jambi, Samira S; Franjic, Daniel D; Nishimura, Sayoko S; Li, Mingfeng M; El-Fishawy, Paul P; Morgan, Thomas M TM; Sanders, Stephan J SJ; Bilguvar, Kaya K; Suri, Mohnish M; Johnson, Michele H MH; Gupta, Abha R AR; Yuksel, Zafer Z; Mane, Shrikant S; Grigorenko, Elena E; Picciotto, Marina M; Alberts, Arthur S AS; Gunel, Murat M; Šestan, Nenad N; State, Matthew W MW

Publication Date: 2015-02

Variant appearance in text: DIAPH1: 2332C>T

PubMed Link: 24781755

Variant Present in the following documents:

• Main text

View BVdb publication page

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