Hypotrichosis with juvenile macular dystrophy: Combination of whole‐genome sequencing and genome‐wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole‐exome sequencing—A lesson from next‐generation sequencing

Hypotrichosis with cone-rod dystrophy in a patient with cadherin 3 (CDH3) mutation

(2019) F. Nasser et al.   DOCUMENTA OPHTHALMOLOGICA

Inherited nonalcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations

(2019) Leila Youssefian et al.   JOURNAL OF HEPATOLOGY

Research Techniques Made Simple: Genome-Wide Homozygosity/Autozygosity Mapping Is a Powerful Tool for Identifying Candidate Genes in Autosomal Recessive Genetic Diseases

(2018) Hassan Vahidnezhad et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

Phenotypic observations in “hypotrichosis with juvenile macular dystrophy” (recessive CDH3 mutations)

(2016) Arif O. Khan et al.   OPHTHALMIC GENETICS

Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy

(2012) Stephanie Halford et al.   ARCHIVES OF OPHTHALMOLOGY

A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy

(2012) Emily Avitan-Hersh et al.   INTERNATIONAL JOURNAL OF DERMATOLOGY

A novel splice-acceptor site mutation in CDH3 gene in a consanguineous family exhibiting hypotrichosis with juvenile macular dystrophy

(2010) Syed Kamran-ul-Hassan Naqvi et al.   ARCHIVES OF DERMATOLOGICAL RESEARCH

Splice Site Mutations in the P-Cadherin Gene Underlie Hypotrichosis with Juvenile Macular Dystrophy

(2010) Y. Shimomura et al.   DERMATOLOGY

Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

(2010) James R. Lupski et al.   NEW ENGLAND JOURNAL OF MEDICINE

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

A novel splice-site mutation in theCDH3gene in hypotrichosis with juvenile macular dystrophy

(2008) M. Jelani et al.   CLINICAL AND EXPERIMENTAL DERMATOLOGY