Publications





The complex relationship between personal sense of connection to animals and self-reported proenvironmental behaviors by zoo visitors.
Conserv Biol 2017 Apr 24;31(2):322-330. Epub 2017 Jan 24.
Smithsonian Conservation Biology Institute, Smithsonian-Mason School of Conservation, 1500 Remount Road, Front Royal, VA, 22630, U.S.A.



Targeted next-generation sequencing revealed MYD88 deficiency in a child with chronic yersiniosis and granulomatous lymphadenitis.
J Allergy Clin Immunol 2016 May 26;137(5):1591-1595.e4. Epub 2015 Nov 26.
Department of Translational Medical Sciences, Federico II University of Naples, Naples, Italy. Electronic address:


A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization.
J Gen Physiol 2015 Nov;146(5):399-410
Department of Neurobiology, Physiology and Behavior, Department of Physiology and Membrane Biology, and Department of Anesthesiology and Pain Medicine, University of California, Davis, Davis, CA 95616 Department of Neurobiology, Physiology and Behavior, Department of Physiology and Membrane Biology, and Department of Anesthesiology and Pain Medicine, University of California, Davis, Davis, CA 95616


Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings.
Lancet Respir Med 2015 May 27;3(5):377-87. Epub 2015 Apr 27.
Center for Pediatric Genomic Medicine, Children's Mercy-Kansas City, Kansas City, MO, USA; Department of Pediatrics, Children's Mercy-Kansas City, Kansas City, MO, USA; Department of Pathology, Children's Mercy-Kansas City, Kansas City, MO, USA; School of Medicine, University of Missouri-Kansas City, Kansas City, Missouri 64108, USA. Electronic address:



CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria.
Am J Hum Genet 2015 Feb 15;96(2):258-65. Epub 2015 Jan 15.
Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, 2100 Copenhagen, Denmark. Electronic address:



Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.
Sci Transl Med 2014 Dec;6(265):265ra168
Center for Pediatric Genomic Medicine, Children's Mercy-Kansas City, Kansas City, MO 64108, USA. Department of Pediatrics, Children's Mercy-Kansas City, Kansas City, MO 64108, USA. School of Medicine, University of Missouri-Kansas City, Kansas City, MO 64108, USA. Department of Pathology, Children's Mercy-Kansas City, Kansas City, MO 64108, USA.

Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing.
Genomics 2013 Nov-Dec;102(5-6):442-7. Epub 2013 Aug 31.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO 64108, USA; Department of Pathology, Children's Mercy Hospital, Kansas City, MO 64108, USA; School of Medicine, University of Missouri-Kansas City, Kansas City, MO 64110, USA. Electronic address:




Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2.
Am J Med Genet B Neuropsychiatr Genet 2012 Mar 27;159B(2):210-6. Epub 2011 Dec 27.
Molecular Neuropsychiatry and Development Lab, Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.


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