Scott K. Ward

De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders

Kévin Uguen, Tiffany Bergot, Marie-Pier Scott-Boyer, Solène Chapalain et autres

SF3B1 is an essential and ubiquitous splicing factor that plays a pivotal role in the early steps of pre-mRNA splicing. Recurrent somatic missense mutations in SF3B1 are frequent in cancers, but no constitutional variant has been reported so far. We describe here …

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P396: Rare chromosome 18q rearrangements and hypoplastic right heart syndrome: A case report and genetic insights

Phoenix Wang, Scott K. Ward, Xinxiu Xu, Rebecca Smith et autres

The patient underwent pulmonary valvuloplasty at 5 days of life but required PDA stent placement after failed prostaglandin E weaning attempts. She developed atrial tachycardia, managed with procainamide and later amiodarone. She was found to have a nonocclusive inferior vena cava thrombus …

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Timely Diagnosis of Cobalamin C Disease via Rapid Genome Sequencing in a Neonate With Severe Prenatally Detected Biventricular Dysfunction

Yutaka Furuta, Samantha N. Walkin, Scott K. Ward, Rory James Tinker et autres

Cobalamin C (Cbl‐C) disease, the most common inborn error of cobalamin metabolism caused by biallelic pathogenic MMACHC variants, leads to multisystem involvement from methylmalonic acid and homocysteine accumulation. When diagnosed early, it is treatable. Rapid genome sequencing (GS) is becoming increasingly accessible …

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45. Examining potential candidate genes within deletions of 3p14.2 to 3p14.1 in two cases of autism and developmental delay

Rebecca B. Smith, Ashwini K. Yenamandra, Meng-Chang Hsiao, Monica Guardado et autres

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De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities

Scott K. Ward, Alexandrea F. Wadley, Chun-Hui Tsai, Paul J. Benke et autres

The collection of known genetic etiologies of neurodevelopmental disorders continues to increase, including several syndromes associated with defects in zinc finger protein transcription factors (ZNFs) that vary in clinical severity from mild learning disabilities and developmental delay to refractory seizures and severe …

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P348: De novo missense variants in ZBTB47 cause a neurodevelopmental phenotype of developmental delays, seizures, and possible movement abnormalities

Scott K. Ward, Lindsay Catherine Burrage, Jill A. Rosenfeld, Carlos A. Bacino et autres

Donation after cardiac death has a minimal impact on thoracic organ recovery

Leslie Olson, Lynn Cravero, Jim Kisthard, Scott K. Ward et autres

BACKGROUND: Our organ procurement organization recently developed an aggressive donation after cardiac death program. Thoracic organs are rarely recovered from non-heart-beating donors. Therefore, there is concern that donation after cardiac death may affect the recovery of thoracic organs from donors not allowed …

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Donation after Cardiac Death Has a Minimal Impact on Thoracic Organ Recovery

Leslie Olson, Lynn Cravero, Jim Kisthard, Scott K. Ward et autres

Background Our organ procurement organization recently developed an aggressive donation after cardiac death program. Thoracic organs are rarely recovered from Non—Heart-beating donors. Therefore, there is concern that donation after cardiac death may affect the recovery of thoracic organs from donors not allowed …

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Incidence and Prevalence of Lymphedema in Patients Following Burn Injury: A Five-Year Retrospective and Three-Month Prospective Study

Heather Hettrick, Leah Nof, Scott K. Ward, John Ecthernach

BACKGROUND: Burn injuries and the disease process of lymphedema are complex medical conditions involving the integument. The possibility of a relationship between burn injury and the development of lymphedema was studied. METHODS AND RESULTS: The incidence of lymphedema was explored by conducting …

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House rules : domestic smoking restrictions and smoking behaviour among socially-disadvantaged young women

P. Kearey, E. Cerin, Neville G. Owen, Carlos Francisco Gould et autres

Carbon monoxide determination in a smoking cessation program

Scott K. Ward, J. A. Spinnato, Jennifer Powell

The Effects of Tobacco Advertising on Adolescent Smoking Initiation and Smoking Maintenance: Overview of a Group Seminar

Scott K. Ward

Professor Ward reports on a discussion among the authors of the articles in this issue and others about tobacco advertising. He describes areas of consensus that emerged. Research should continue into the ways and stages of development in which children understand advertising. …

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