Background-As clinical exome sequencing (CES) becomes more common, understanding which patients are most likely to benefit and in what manner is critical for the general pediatrics community to appreciate. Methods-523 patients referred to the Pediatric Genetics clinic at Michigan Medicine were systematically phenotyped by presence or absence of abnormalities for 13 body/organ systems by a Clinical Genetics team. All patients then underwent CES. Results-Overall, 30% of patients who underwent CES had an identified pathogenic mutation. The most common phenotypes were developmental delay (83%), neuromuscular system abnormalities (81%), and multiple congenital anomalies (42%). 67% of patients had a variant of uncertain significance (VUS) or gene of uncertain significance (GUS); 23% had no variants reported. There was a significant difference in the average number of body systems affected Users may view, print, copy, and download text and data-mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use:

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Neonectria ditissima, the causal agent of European canker in apples, conidia are available year-round in the Tasman region of New Zealand. Spore production and release in apple trees were quantified during natural and artificial rain events. Rain traps captured spores over 18 rain events (July—August 2017) from European canker lesions (excised and in planta) derived from ‘Royal Gala’ picking wound and rasp wound infections. Rain traps were monitored regularly to determine spore release over time. Differences in the number of conidia produced from lesions on the tree and excised lesions re-mounted in the tree were not significant. Lesions arising from picking wounds produced 7.2 times more spores on average than lesions arising from rasp wounds. Most spores were released within the first hour of rain and total spore release followed a logarithmic curve. Rain duration × volume of water determined the rate of conidia release. Excised lesions are suitable to study the effect of biotic and abiotic drivers on spore production.

This study examined incubation period, lesion length and conidial release in Neonectria ditissima (European canker) in four New Zealand regions in relation to climatic factors. Incubation period was studied on potted ‘Royal Gala’ trees inoculated with N. ditissima. One week after inoculation, symptomless trees were dispatched to Waikato, Hawke’s Bay, Tasman, Otago and positive controls remained in a glasshouse. Conidial release was studied in trees with lesions that were dispatched to the same regions. Rain traps were placed under each lesion and conidia quantified after each rain event. Disease progress and conidial production were examined in relation to weather. Lesions developed significantly slower in Otago and faster in Waikato and the glasshouse, compared with Tasman and Hawke’s Bay. Symptom development accelerated with increasing daily hours of 11–16°C and humidity (74.6–87.2% RH). The highest conidium counts occurred in Waikato and the lowest in Otago, while conidial production started earlier in Tasman than elsewhere. Temperature is the main driver for symptom development during the incubation period and rainfall is not required. Rainfall frequency drives conidial production.

Neonectria ditissima is the causal agent of European canker in apple, and conidia infect wounds in apple trees. Several commercially available chemical fungicides and biological products (BPs) were tested for wound protection activity in three field experiments (2014—17). Freshly made wounds (rasp, picking, leaf and/or bud scar) were sprayed with the products at label rates. Wounds were challenge-inoculated with N. ditissima conidia after 24 hours and monitored monthly for lesion development. Only captan and copper oxide consistently protected wounds from infection and disease development in each experiment. The BPs tested in this study did not provide adequate wound protection when challenge-inoculated with N. ditissima at high concentration (>1000 spores/wound) so are not recommended for wound protection during harvest and leaf fall when disease pressure is high.