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Autosomal dominant traits

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

Tsegaselassie Workalemahu, Cecile Avery, [ ... ], Robert M. Silver

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

Hiroki Mizuno, Akinari Sekine, [ ... ], Junichi Hoshino

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, [ ... ], Sulman Basit

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, [ ... ], Kwang-Kuk Kim

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

Johannes Birtel, Martin Gliem, [ ... ], Peter Charbel Issa

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

Francis Hane, Carolyn Augusta, Owen Bai

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

Seonjoo Lee, Molly E. Zimmerman, [ ... ], Dominantly Inherited Alzheimer Network

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

Masafumi Kobayashi, Maiko Miyagawa, [ ... ], Shin-ichi Usami

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-ichi Usami

Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients

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

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

Amit Tiwari, Johannes Lemke, [ ... ], Wolfgang Berger

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

Samuel P. Strom, Michael J. Clark, [ ... ], Michael B. Gorin

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

Juanjuan Gao, Qi Wang, [ ... ], Yuhe Liu

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