Advertisement

Browse Subject Areas

?

Click through the PLOS taxonomy to find articles in your field.

For more information about PLOS Subject Areas, click here.

Autosomal dominant traits

Whole-genome sequencing analysis in families with recurrent pregnancy loss: A pilot study

Tsegaselassie Workalemahu, Cecile Avery, Sarah Lopez, Nathan R. Blue, Amelia Wallace, Aaron R. Quinlan, Hilary Coon, Derek Warner, Michael W. Varner, D. Ware Branch, Lynn B. Jorde, Robert M. Silver

published 17 Feb 2023

Loading metrics information...

Metrics unavailable. Please check back later.

Potential effect of tolvaptan on polycystic liver disease for patients with ADPKD meeting the Japanese criteria of tolvaptan use

Hiroki Mizuno, Akinari Sekine, Tatsuya Suwabe, Daisuke Ikuma, Masayuki Yamanouchi, Eiko Hasegawa, Naoki Sawa, Yoshifumi Ubara, Junichi Hoshino

published 17 Feb 2022

Loading metrics information...

Metrics unavailable. Please check back later.

Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant

Maan Abdullah Albarry, Muhammad Latif, Ahdab Qasem Alreheli, Mohammed A. Awadh, Ahmad M. Almatrafi, Alia M. Albalawi, Sulman Basit

published 11 Feb 2021

Loading metrics information...

Metrics unavailable. Please check back later.

Clinical and imaging features of patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy and cysteine-sparing NOTCH3 mutations

Hyunjin Kim, Young-Min Lim, Eun-Jae Lee, Yeo Jin Oh, Kwang-Kuk Kim

published 18 Jun 2020

Loading metrics information...

Metrics unavailable. Please check back later.

Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa

Johannes Birtel, Martin Gliem, Elisabeth Mangold, Philipp L. Müller, Frank G. Holz, Christine Neuhaus, Steffen Lenzner, Diana Zahnleiter, Christian Betz, Tobias Eisenberger, Hanno J. Bolz, Peter Charbel Issa

published 13 Dec 2018

Loading metrics information...

Metrics unavailable. Please check back later.

A hierarchical Bayesian model to predict APOE4 genotype and the age of Alzheimer’s disease onset

Francis Hane, Carolyn Augusta, Owen Bai

published 12 Jul 2018

Loading metrics information...

Metrics unavailable. Please check back later.

White matter hyperintensities and the mediating role of cerebral amyloid angiopathy in dominantly-inherited Alzheimer’s disease

Seonjoo Lee, Molly E. Zimmerman, Atul Narkhede, Sara E. Nasrabady, Giuseppe Tosto, Irene B. Meier, Tammie L. S. Benzinger, Daniel S. Marcus, Anne M. Fagan, Nick C. Fox, Nigel J. Cairns, David M. Holtzman, Virginia Buckles, Bernardino Ghetti, Eric McDade, Ralph N. Martins, Andrew J. Saykin, Colin L. Masters, John M. Ringman, Stefan Fӧrster, Peter R. Schofield, Reisa A. Sperling, Keith A. Johnson, Jasmeer P. Chhatwal, Stephen Salloway, Stephen Correia, Clifford R. Jack Jr, Michael Weiner, Randall J. Bateman, John C. Morris, Richard Mayeux, Adam M. Brickman, Dominantly Inherited Alzheimer Network

published 09 May 2018

Loading metrics information...

Metrics unavailable. Please check back later.

WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis

Masafumi Kobayashi, Maiko Miyagawa, Shin-ya Nishio, Hideaki Moteki, Taro Fujikawa, Kenji Ohyama, Hirofumi Sakaguchi, Ikuyo Miyanohara, Akiko Sugaya, Yasushi Naito, Shin-ya Morita, Yukihiko Kanda, Masahiro Takahashi, Kotaro Ishikawa, Yuki Nagano, Tetsuya Tono, Chie Oshikawa, Chiharu Kihara, Haruo Takahashi, Yoshihiro Noguchi, Shin-ichi Usami

published 12 Mar 2018

Loading metrics information...

Metrics unavailable. Please check back later.

POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss

Tomohiro Kitano, Maiko Miyagawa, Shin-ya Nishio, Hideaki Moteki, Kiyoshi Oda, Kenji Ohyama, Hiromitsu Miyazaki, Hiroshi Hidaka, Ken-ichi Nakamura, Takaaki Murata, Rina Matsuoka, Yoko Ohta, Nobuhiro Nishiyama, Kozo Kumakawa, Sakiko Furutate, Satoshi Iwasaki, Takechiyo Yamada, Yumi Ohta, Natsumi Uehara, Yoshihiro Noguchi, Shin-ichi Usami

published 17 May 2017

Loading metrics information...

Metrics unavailable. Please check back later.

Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients

Yoh-ichiro Iwasa, Shin-ya Nishio, Shin-ichi Usami

published 02 Dec 2016

Loading metrics information...

Metrics unavailable. Please check back later.

Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations

Amit Tiwari, Johannes Lemke, Janine Altmueller, Holger Thiele, Esther Glaus, Johannes Fleischhauer, Peter Nürnberg, John Neidhardt, Wolfgang Berger

published 08 Jul 2016

Loading metrics information...

Metrics unavailable. Please check back later.

De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa

Samuel P. Strom, Michael J. Clark, Ariadna Martinez, Sarah Garcia, Amira A. Abelazeem, Anna Matynia, Sachin Parikh, Lori S. Sullivan, Sara J. Bowne, Stephen P. Daiger, Michael B. Gorin

published 10 Mar 2016

Loading metrics information...

Metrics unavailable. Please check back later.

Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family

Juanjuan Gao, Qi Wang, Cheng Dong, Siqi Chen, Yu Qi, Yuhe Liu

published 21 Jul 2015

Loading metrics information...

Metrics unavailable. Please check back later.

Advertisement

Create a weekly email alert for: Autosomal dominant traits

You can change these options by clicking profile then "Alerts and Notifications"