Publications:

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Identification of compound heterozygous DNAH11 variants in a Han-Chinese family with primary ciliary dyskinesia.

Journal Of Cellular And Molecular Medicine

Xiong, Ying Y; Xia, Hong H; Yuan, Lamei L; Deng, Sheng S; Ding, Zerui Z; Deng, Hao H

Publication Date: 2021-09

Variant appearance in text: DNAH11: 11804C>T

PubMed Link: 34405951

Variant Present in the following documents:

View BVdb publication page

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Case Report: Exome Sequencing Identified a Novel Frameshift Mutation of α-Actin 1 in a Chinese Family With Macrothrombocytopenia and Mild Bleeding.

Frontiers In Pediatrics

Luo, Fang-Mei FM; Fan, Liang-Liang LL; Sheng, Yue Y; Dong, Yi Y; Liu, Lv L

Publication Date: 2021

Variant appearance in text: DNAH11: 11804C>T; P3935L; rs72658814

PubMed Link: 34222148

Variant Present in the following documents:

• Main text
• fped-09-679279.pdf

View BVdb publication page

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DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease.

Plos One

Xia, Hong H; Huang, Xiangjun X; Deng, Sheng S; Xu, Hongbo H; Yang, Yan Y; Liu, Xin X; Yuan, Lamei L; Deng, Hao H

Publication Date: 2021

Variant appearance in text: DNAH11: 11804C>T; Pro3935Leu

PubMed Link: 34133440

Variant Present in the following documents:

• Main text
• pone.0252786.pdf

View BVdb publication page

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Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications

Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A

Publication Date: 2021-04-14

Variant appearance in text: DNAH11: P3935L

PubMed Link: 33854067

Variant Present in the following documents:

• 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9

View BVdb publication page

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Male Infertility Diagnosis: Improvement of Genetic Analysis Performance by the Introduction of Pre-Diagnostic Genes in a Next-Generation Sequencing Custom-Made Panel.

Frontiers In Endocrinology

Precone, Vincenza V; Cannarella, Rossella R; Paolacci, Stefano S; Busetto, Gian Maria GM; Beccari, Tommaso T; Stuppia, Liborio L; Tonini, Gerolamo G; Zulian, Alessandra A; Marceddu, Giuseppe G; Calogero, Aldo E AE; Bertelli, Matteo M

Publication Date: 2020

Variant appearance in text: DNAH11: 11804C>T; Pro3935Leu; rs72658814

PubMed Link: 33574797

Variant Present in the following documents:

• Main text
• fendo-11-605237.pdf

View BVdb publication page

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A novel DNAH11 variant segregating in a sibship with heterotaxy and implications for genetic counseling.

Molecular Genetics & Genomic Medicine

Namavarian, Amirpouyan A; Eid, Anas A; Goh, Elaine Suk-Ying ES; Thakur, Varsha V

Publication Date: 2020-09

Variant appearance in text: DNAH11: 11804C>T; Pro3935Leu

PubMed Link: 32633470

Variant Present in the following documents:

• Main text
• MGG3-8-e1358.pdf

View BVdb publication page

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Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure.

Thorax

Knowles, Michael R MR; Leigh, Margaret W MW; Carson, Johnny L JL; Davis, Stephanie D SD; Dell, Sharon D SD; Ferkol, Thomas W TW; Olivier, Kenneth N KN; Sagel, Scott D SD; Rosenfeld, Margaret M; Burns, Kimberlie A KA; Minnix, Susan L SL; Armstrong, Michael C MC; Lori, Adriana A; Hazucha, Milan J MJ; Loges, Niki T NT; Olbrich, Heike H; Becker-Heck, Anita A; Schmidts, Miriam M; Werner, Claudius C; Omran, Heymut H; Zariwala, Maimoona A MA; ,

Publication Date: 2012-05

Variant appearance in text: DNAH11: P3935L

PubMed Link: 22184204

Variant Present in the following documents:

• Main text

View BVdb publication page

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