Associated Papers
Identification of a novel BAAT frameshift mutation in a female child diagnosed with skeletal dysplasia: A case report.
Nguyen DQ et al.
Medicine, 2024
Impact of parental relatedness on reproductive outcomes among the Old Order Amish of Lancaster County.
Lynch MT et al.
American Journal of Medical Genetics. Part A, 2022
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM23_ESM.xlsx › Supplementary_Data_20
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
31028937 (PubMed )
Supplement: mmc1.xlsx › SuppTable1_VariantsPanel
Genetic pleiotropy between mood disorders, metabolic, and endocrine traits in a multigenerational pedigree.
Kember RL et al.
Translational Psychiatry, 2018
30315151 (PubMed )
Supplement: 41398_2018_226_MOESM2_ESM.xlsx › Supplemental_Table_5
OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants.
Boudellioua I et al.
Scientific Reports, 2018
30279426 (PubMed )
Supplement: 41598_2018_32876_MOESM1_ESM.pdf
Carboxy-terminal mutations of bile acid CoA:N-acyltransferase alter activity and substrate specificity.
Styles NA et al.
Journal of Lipid Research, 2016
Structural and functional hepatocyte polarity and liver disease.
Gissen P et al.
Journal of Hepatology, 2015
Diagnosis in bile acid-CoA: amino acid N-acyltransferase deficiency.
Hadžić N et al.
World Journal of Gastroenterology, 2012
Disorders of bile acid synthesis.
Clayton PT
Journal of Inherited Metabolic Disease, 2011
Biochemistry and genetics of inherited disorders of peroxisomal fatty acid metabolism.
Van Veldhoven PP
Journal of Lipid Research, 2010
Genetics of familial intrahepatic cholestasis syndromes.
van Mil SW et al.
Journal of Medical Genetics, 2005
Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania.
Puffenberger EG
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2003
Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.
Carlton VE et al.
Nature Genetics, 2003
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