Nobuko Yamamoto - Publications

Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search.

Journal: Human genetics

Published: October 18, 2024

Recurrent missense variant identified in two unrelated families with MPZL2-related hearing loss, expanding the variant spectrum associated with DFNB111.

Journal: American journal of medical genetics. Part A

Published: October 02, 2023

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.

Journal: American journal of medical genetics. Part A

Published: March 23, 2023

Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield.

Journal: The Journal of pediatrics

Published: February 08, 2023

Cochlear Implantation in Cases of Inner Ear Malformation: A Novel and Simple Grading, Intracochlear EABR, and Outcomes of Hearing.

Journal: Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology

Published: September 17, 2020

Clinical Profiles of DFNA11 at Diverse Stages of Development and Aging in a Large Family Identified by Linkage Analysis.

Journal: Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology

Published: February 26, 2020