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Bishop, Juliet Chhay; Britton, Jacquelyn Francis; Murphy, Anne M et al. (2018) Juvenile Idiopathic Arthritis Associated with Combined JP-HHT Syndrome: A Novel Phenotype Associated with a Novel Variant in SMAD4. J Pediatr Genet 7:78-82
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Muriello, Michael; Clemens, Julia L; Mu, Weiyi et al. (2018) Pain and sleep quality in children with non-vascular Ehlers-Danlos syndromes. Am J Med Genet A 176:1858-1864
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Peroutka, Christina; Salas, Jacqueline; Britton, Jacquelyn et al. (2018) Severe Neonatal Manifestations of Infantile Liver Failure Syndrome Type 1 Caused by Cytosolic Leucine-tRNA Synthetase Deficiency. JIMD Rep :
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Bishop, Juliet Chhay; Blakemore, Karin; Vricella, Luca et al. (2018) Prenatal ABO/RHD Genotyping: A New Paradigm to Allow for Fresh Whole Blood for Cardiopulmonary Bypass in the Immediate Newborn Period. Fetal Diagn Ther 44:156-159
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Lu, Jacqueline G; Bishop, Juliet; Cheyette, Sarah et al. (2018) A novel PRRT2 pathogenic variant in a family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures. Cold Spring Harb Mol Case Stud 4:
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Muriello, Michael J; Viall, Sarah; Bottiglieri, Teodoro et al. (2017) Confirmation that MAT1A p.Ala259Val mutation causes autosomal dominant hypermethioninemia. Mol Genet Metab Rep 13:9-12
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Chandonia, John-Marc; Adhikari, Aashish; Carraro, Marco et al. (2017) Lessons from the CAGI-4 Hopkins clinical panel challenge. Hum Mutat 38:1155-1168
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Roshan Lal, Tamanna; Sidransky, Ellen (2017) The Spectrum of Neurological Manifestations Associated with Gaucher Disease. Diseases 5:
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Borger, Daniel K; McMahon, Benjamin; Roshan Lal, Tamanna et al. (2017) Induced pluripotent stem cell models of lysosomal storage disorders. Dis Model Mech 10:691-704
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Zhao, Xixi; Li, Angela; Soni, Madhu et al. (2017) McArdle disease: a ""pediatric"" disorder presenting in an adult with acute kidney injury. CEN Case Rep 6:156-160
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Showing the most recent 10 out of 71 publications
