Publications

POLR3A variants in hereditary spastic paraplegia and ataxia.
Brain 2017 Dec 8. Epub 2017 Dec 8.
Department of Neurology and Neurosurgery, Montreal Children's Hospital, McGill University Health Centre, Montreal, Canada.






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.




Hypophosphatemia with elevations in serum fibroblast growth factor 23 in a child with Jansen's metaphyseal chondrodysplasia.
J Clin Endocrinol Metab 2009 Jan 14;94(1):17-20. Epub 2008 Oct 14.
University of Alabama School of Medicine, Department of Pediatric Endocrinology, Children's Park Place Suite 230, 1600 7th Avenue South, Birmingham, Alabama 35233, USA.

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