Associated Papers
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
Detailed clinical and radiological features of the first patient with Elsahy-Waters syndrome in East Asia.
Minatogawa M et al.
American Journal of Medical Genetics. Part A, 2021
Survey of disorders of sex development in a large cohort of patients with diverse Mendelian phenotypes.
Abualsaud D et al.
American Journal of Medical Genetics. Part A, 2021
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
32552793 (PubMed )
Supplement: 13059_2020_2053_MOESM3_ESM.xlsx › Table_S2
Elsahy-Waters syndrome is caused by biallelic mutations in CDH11.
Harms FL et al.
American Journal of Medical Genetics. Part A, 2018
Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome.
Taskiran EZ et al.
American Journal of Medical Genetics. Part A, 2017
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.
Anazi S et al.
Molecular Psychiatry, 2017
Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort.
Shaheen R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
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