Publications by authors named "C Gooch"

Metabolic bone diseases are a heterogenous group of conditions that all result in aberrant bone mineral homeostasis with resulting skeletal disease. The underlying causes are variable, ranging from nutritional deficiencies to pathogenic variants in skeletal genes. To properly diagnose and treat these conditions, a clinician needs to understand bone metabolism as well as recognize the signs of disease in a patient.

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Service lines are increasingly common for organizing multidisciplinary patient care. Concerns regarding impacts of neuroscience service lines were voiced at several national neurology department chair summits, prompting the American Academy of Neurology to convene a Service Lines Workgroup. Neurology department leaders nationally at institutions that had created or considered a neuroscience service line were interviewed to elicit their experiences and lessons learned.

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Unlabelled: A search for full energy depositions from bosonic keV-scale dark matter candidates of masses between 65 and 1021 keV has been performed with data collected during Phase II of the GERmanium Detector Array (Gerda) experiment. Our analysis includes direct dark matter absorption as well as dark Compton scattering. With a total exposure of 105.

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Article Synopsis
  • KMT2C and KMT2D are important enzymes that modify genes, with KMT2C haploinsufficiency recently linked to Kleefstra syndrome 2, a neurodevelopmental disorder (NDD) with unknown clinical details.
  • A study involving 98 individuals found that most pathogenic variants in KMT2C span nearly all its exons, making variant interpretation difficult; the study also established a KMT2C DNA methylation signature for better classification of the disorder.
  • Key features of KMT2C-related NDD include developmental delays, intellectual disabilities, and distinct facial characteristics, setting it apart from similar conditions like Kleefstra and Kabuki syndromes, indicating the need for its renaming and
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