Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3
Association of deep phenotyping with diagnostic yield of prenatal exome sequencing for fetal brain abnormalities.
Drexler KA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Any modality of renal replacement therapy can be a treatment option for Joubert syndrome.
Takagi Y et al.
Scientific Reports, 2021
An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.
Vora NL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report.
Bui TPH et al.
Bmc Medical Genetics, 2020
Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges.
Vora NL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping.
Watson CM et al.
Bmc Medical Genetics, 2016
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
Halbritter J et al.
Human Genetics, 2013
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
Iannicelli M et al.
Human Mutation, 2010
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.
Brancati F et al.
Human Mutation, 2009
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