David A. Stevenson
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View article: Guiding Parenteral Nutrition Therapy After Hematopoietic Stem Cell Transplantation
Guiding Parenteral Nutrition Therapy After Hematopoietic Stem Cell Transplantation Open
Adults undergoing hematopoietic cell transplantation often develop serious complications that cause rapid nutritional decline. We developed and evaluated an AI approach to standardize intravenous nutrition (total parenteral nutrition, TPN)…
View article: The American Federation for Medical Research maintains commitment to decades of support of vaccine and vaccination research to improve public health
The American Federation for Medical Research maintains commitment to decades of support of vaccine and vaccination research to improve public health Open
View article: <i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. Open
Heterozygous mutations in KMT2B are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at disease presentation, evolving through a caud…
View article: 7519 Withdrawal of DCCR (Diazoxide Choline) Extended-Release Tablets Worsens Hyperphagia and Increases Weight and BMI in a 16-week Double-blind, Placebo-controlled, Randomized Withdrawal Period in Patients with Prader Willi Syndrome
7519 Withdrawal of DCCR (Diazoxide Choline) Extended-Release Tablets Worsens Hyperphagia and Increases Weight and BMI in a 16-week Double-blind, Placebo-controlled, Randomized Withdrawal Period in Patients with Prader Willi Syndrome Open
Disclosure: E.F. Gevers: Advisory Board Member; Self; Pfizer, Inc., Soleno. Research Investigator; Self; Soleno Therapeutics, Inc.. Speaker; Self; Pfizer, Inc., Novo Nordisk, Soleno Therapeutics, Inc. J.L. Miller: Research Investigator; Se…
View article: Risk of meningomyelocele mediated by the common 22q11.2 deletion
Risk of meningomyelocele mediated by the common 22q11.2 deletion Open
Meningomyelocele is one of the most severe forms of neural tube defects (NTDs) and the most frequent structural birth defect of the central nervous system. We assembled the Spina Bifida Sequencing Consortium to identify causes. Exome and g…
View article: Immunological and hematological findings as major features in a patient with a new germline pathogenic <scp><i>CBL</i></scp> variant
Immunological and hematological findings as major features in a patient with a new germline pathogenic <span><i>CBL</i></span> variant Open
Casitas B‐lineage lymphoma ( CBL ) encodes an adaptor protein with E3‐ligase activity negatively controlling intracellular signaling downstream of receptor tyrosine kinases. Somatic CBL mutations play a driver role in a variety of cancers,…
View article: Osteogenesis imperfecta type XVII: expansion of the phenotype
Osteogenesis imperfecta type XVII: expansion of the phenotype Open
Background Biallelic variants in SPARC are extremely rare, and have been reported in only a few cases of autosomal recessive osteogenesis imperfecta (OI) type XVII. Here, we describe an individual with a SPARC homozygous missense variant (…
View article: P857: Medical genetics and genomics residents’ perceptions of their gaps in knowledge regarding the clinical intersections of race and racism*
P857: Medical genetics and genomics residents’ perceptions of their gaps in knowledge regarding the clinical intersections of race and racism* Open
The field of genetics and genomics, like many areas of medicine, has a history of racial injustice and racism. One factor that has reinforced this injustice is the continued role of racism and racialized structures in shaping how providers…
View article: Diazoxide choline extended‐release tablet in people with <scp>Prader‐Willi</scp> syndrome: results from long‐term open‐label study
Diazoxide choline extended‐release tablet in people with <span>Prader‐Willi</span> syndrome: results from long‐term open‐label study Open
Objective This study assessed the effect of 1‐year administration of diazoxide choline extended‐release tablet (DCCR) on hyperphagia and other complications of Prader‐Willi syndrome (PWS). Methods The authors studied 125 participants with …
View article: Two epilepsy‐associated variants in <i>KCNA2</i> (K<sub>V</sub>1.2) at position H310 oppositely affect channel functional expression
Two epilepsy‐associated variants in <i>KCNA2</i> (K<sub>V</sub>1.2) at position H310 oppositely affect channel functional expression Open
Two KCNA2 variants (p.H310Y and p.H310R) were discovered in paediatric patients with epilepsy and developmental delay. KCNA2 encodes K V 1.2‐channel subunits, which regulate neuronal excitability. Both gain and loss of K V 1.2 function cau…
View article: Potential endpoints for assessment of bone health in persons with neurofibromatosis type 1
Potential endpoints for assessment of bone health in persons with neurofibromatosis type 1 Open
Neurofibromatosis type 1 is a genetic syndrome characterized by a wide variety of tumor and non-tumor manifestations. Bone-related issues, such as scoliosis, tibial dysplasia, and low bone mineral density, are a significant source of morbi…
View article: <scp>Jansen‐de Vries</scp> syndrome: Expansion of the <scp><i>PPM1D</i></scp> clinical and phenotypic spectrum in 34 families
<span>Jansen‐de Vries</span> syndrome: Expansion of the <span><i>PPM1D</i></span> clinical and phenotypic spectrum in 34 families Open
Jansen‐de Vries syndrome (JdVS) is a neurodevelopmental condition attributed to pathogenic variants in Exons 5 and 6 of PPM1D . As the full phenotypic spectrum and natural history remain to be defined, we describe a large cohort of childre…
View article: Diazoxide Choline Extended-Release Tablet in People With Prader-Willi Syndrome: A Double-Blind, Placebo-Controlled Trial
Diazoxide Choline Extended-Release Tablet in People With Prader-Willi Syndrome: A Double-Blind, Placebo-Controlled Trial Open
Context Prader-Willi syndrome (PWS) is a rare neurobehavioral-metabolic disease caused by the lack of paternally expressed genes in the chromosome 15q11-q13 region, characterized by hypotonia, neurocognitive problems, behavioral difficulti…
View article: 50 Years Ago in T J P
50 Years Ago in T J P Open
View article: MEK inhibitors for neurofibromatosis type 1 manifestations: Clinical evidence and consensus
MEK inhibitors for neurofibromatosis type 1 manifestations: Clinical evidence and consensus Open
The wide variety of clinical manifestations of the genetic syndrome neurofibromatosis type 1 (NF1) are driven by overactivation of the RAS pathway. Mitogen-activated protein kinase kinase inhibitors (MEKi) block downstream targets of RAS. …
View article: Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation Open
View article: The seventh international <scp>RASopathies</scp> symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery
The seventh international <span>RASopathies</span> symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery Open
RASopathies are a group of genetic disorders that are caused by genes that affect the canonical Ras/mitogen‐activated protein kinase (MAPK) signaling pathway. Despite tremendous progress in understanding the molecular consequences of these…
View article: Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study
Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study Open
View article: Response to Hamosh et al.
Response to Hamosh et al. Open
View article: Arteriovenous Malformations—Current Understanding of the Pathogenesis with Implications for Treatment
Arteriovenous Malformations—Current Understanding of the Pathogenesis with Implications for Treatment Open
Arteriovenous malformations are a vascular anomaly typically present at birth, characterized by an abnormal connection between an artery and a vein (bypassing the capillaries). These high flow lesions can vary in size and location. Therape…
View article: Reliability of Handheld Dynamometry to Measure Focal Muscle Weakness in Neurofibromatosis Types 1 and 2
Reliability of Handheld Dynamometry to Measure Focal Muscle Weakness in Neurofibromatosis Types 1 and 2 Open
HHD performed by a trained examiner with a well-defined protocol is a reliable technique to measure muscle strength in NF1 and NF2. Recommendations for strength testing in NF1 and NF2 trials are provided.
View article: Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation Open
View article: Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma
Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma Open
View article: Congenital polyvalvular disease expands the cardiac phenotype of the <scp>RASopathies</scp>
Congenital polyvalvular disease expands the cardiac phenotype of the <span>RASopathies</span> Open
The RASopathies are a group of similar genetic syndromes with cardiovascular abnormalities, characteristic facial features, short stature, abnormalities of the skin and musculoskeletal system, and variable neurodevelopmental challenges. Th…
View article: A dyadic approach to the delineation of diagnostic entities in clinical genomics
A dyadic approach to the delineation of diagnostic entities in clinical genomics Open
View article: Missense variants in <i>CTNNB1</i> can be associated with vitreoretinopathy—Seven new cases of <i>CTNNB1</i>‐associated neurodevelopmental disorder including a previously unreported retinal phenotype
Missense variants in <i>CTNNB1</i> can be associated with vitreoretinopathy—Seven new cases of <i>CTNNB1</i>‐associated neurodevelopmental disorder including a previously unreported retinal phenotype Open
Background CTNNB1 (MIM 116806) encodes beta‐catenin, an adherens junction protein that supports the integrity between layers of epithelial tissue and mediates intercellular signaling. Recently, various heterozygous germline variants in CTN…
View article: Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome
Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome Open
View article: <i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation Open
Heterozygous mutations in KMT2B are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at disease presentation, evolving through a caudocrania…
View article: Programmed death-ligand 1 expression influenced by tissue sample size. Scoring based on tissue microarrays' and cross-validation with resections, in patients with, stage I–III, non-small cell lung carcinoma of the European Thoracic Oncology Platform Lungscape cohort
Programmed death-ligand 1 expression influenced by tissue sample size. Scoring based on tissue microarrays' and cross-validation with resections, in patients with, stage I–III, non-small cell lung carcinoma of the European Thoracic Oncology Platform Lungscape cohort Open
View article: Costello syndrome: Clinical phenotype, genotype, and management guidelines
Costello syndrome: Clinical phenotype, genotype, and management guidelines Open
Costello syndrome (CS) is a RASopathy caused by activating germline mutations in HRAS . Due to ubiquitous HRAS gene expression, CS affects multiple organ systems and individuals are predisposed to cancer. Individuals with CS may have disti…