Publications
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Filters: Keyword is Humans and Author is Posey, Jennifer E [Clear All Filters]
Dominant Transmission Observed in Adolescents and Families With Orthostatic Intolerance. Pediatr Neurol. 2017 ;66:53-58.e5.
. Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 ;9(1):26.
. Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. Genome Med. 2017 ;9(1):73.
. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. Am J Hum Genet. 2017 ;100(2):343-351.
. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med. 2017 ;376(1):21-31.
. Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. BMC Med Genomics. 2016 ;9(1):42.
. Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation. Hum Mutat. 2016 ;37(2):160-4.
. Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med. 2016 ;18(7):678-85.
. POGZ truncating alleles cause syndromic intellectual disability. Genome Med. 2016 ;8(1):3.
. Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet. 2016 ;99(4):831-845.
. . Adult presentation of X-linked Conradi-Hünermann-Happle syndrome. Am J Med Genet A. 2015 ;167(6):1309-14.
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