Jaclyn Kotlarek
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View article: P145: Paradigm shift in Occam’s Razor and the need for genotype driven reverse phenotyping in rare diseases with complex phenotypes*
P145: Paradigm shift in Occam’s Razor and the need for genotype driven reverse phenotyping in rare diseases with complex phenotypes* Open
The American College of Medical Genetics and Genomics (ACMG) guideline recommends the use of exome sequencing (ES) or genome sequencing (GS) as a first or second-tier test in patients with multiple congenital anomalies (MCA), developmental…
View article: P041: False positive VLCAD deficiency screening: Proposed effect of testosterone
P041: False positive VLCAD deficiency screening: Proposed effect of testosterone Open
Very long chain acyl CoA dehydrogenase (VLCAD) deficiency is one of the most common inborn disorders of long-chain fatty acid oxidation. It is a primary target on most newborn screening panels in the United States and is included on the Re…
View article: TBX3 and EFNA4 Variant in a Family with Ulnar-Mammary Syndrome and Sagittal Craniosynostosis
TBX3 and EFNA4 Variant in a Family with Ulnar-Mammary Syndrome and Sagittal Craniosynostosis Open
Ulnar-mammary syndrome (UMS) is a rare, autosomal dominant disorder characterized by anomalies affecting the limbs, apocrine glands, dentition, and genital development. This syndrome is caused by haploinsufficiency in the T-Box3 gene (TBX3…
View article: eP262: De novo heterozygous variant in the RAB11B gene presenting with combined cardiac defect and neurodevelopmental disorder: A case report
eP262: De novo heterozygous variant in the RAB11B gene presenting with combined cardiac defect and neurodevelopmental disorder: A case report Open
View article: eP095: A family-based study of hereditary spastic paraplegia type 46 in two siblings due to a novel GBA2 variant
eP095: A family-based study of hereditary spastic paraplegia type 46 in two siblings due to a novel GBA2 variant Open