Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome

The promise of whole-exome sequencing in medical genetics

(2013) Bahareh Rabbani et al.   JOURNAL OF HUMAN GENETICS

Alagille syndrome in a Vietnamese cohort: Mutation analysis and assessment of facial features

(2012) Henry C. Lin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Analysis of JAG1 gene variant in Chinese patients with Alagille syndrome

(2012) Honglian Wang et al.   GENE

Renal anomalies in Alagille syndrome: A disease-defining feature

(2011) Binita M. Kamath et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome

(2011) K Guegan et al.   CLINICAL GENETICS

Sequencing technologies and genome sequencing

(2011) Chandra Shekhar Pareek et al.   JOURNAL OF APPLIED GENETICS

NOTCH2mutations in Alagille syndrome

(2011) Binita Maya Kamath et al.   JOURNAL OF MEDICAL GENETICS

SNP array mapping of chromosome 20p deletions: Genotypes, phenotypes, and copy number variation

(2008) Binita M. Kamath et al.   HUMAN MUTATION