Scott D. McLean
A5105349774- Genetics and Plant Breeding
- Genomics and Rare Diseases
- Plant tissue culture and regeneration
- Genetics and Neurodevelopmental Disorders
- Crop Yield and Soil Fertility
- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- Cellular transport and secretion
- Chromosomal and Genetic Variations
- Genetic Mapping and Diversity in Plants and Animals
- Genetic Syndromes and Imprinting
- Ocular Disorders and Treatments
- Congenital heart defects research
- Turfgrass Adaptation and Management
- Transgenic Plants and Applications
- Craniofacial Disorders and Treatments
- RNA modifications and cancer
- Cleft Lip and Palate Research
- Neurogenetic and Muscular Disorders Research
- Latin American rural development
- Genomics and Chromatin Dynamics
- Congenital Ear and Nasal Anomalies
- Hedgehog Signaling Pathway Studies
- Insect Resistance and Genetics
- Plant and soil sciences
Baylor College of Medicine
2017-2024
Children's Hospital of San Antonio
2016-2023
University of Southern Denmark
2019
Filadelfia
2019
Centro Internacional de Mejoramiento de Maíz Y Trigo
1995-2016
Brooke Army Medical Center
2009-2011
University of Strathclyde
2009
Royal College of Physicians
2009
Association of Anaesthetists of Great Britain and Ireland
2009
United States Department of the Army
2006
The Maternal and Child Health Bureau commissioned the American College of Medical Genetics to outline a process standardization outcomes guidelines for state newborn screening programs define responsibilities collecting evaluating outcome data, including recommended uniform panel conditions include in programs. expert identified 29 which should be mandated. An additional 25 were because they are part differential diagnosis condition core panel, clinically significant revealed with technology...
Yin and yang 1 (YY1) is a well-known zinc-finger transcription factor with crucial roles in normal development malignancy. YY1 acts both as repressor an activator of gene expression. We have identified 23 individuals de novo mutations or deletions phenotypic features that define syndrome cognitive impairment, behavioral alterations, intrauterine growth restriction, feeding problems, various congenital malformations. Our combined clinical molecular data "YY1 syndrome" haploinsufficiency...
To evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations predicted functional consequences based on structural modeling.We reviewed data of 21 patients (7 previously published) with DNM1 mutations. We compared mutation known undertook biomolecular modeling assess effect function.We identified 19 de novo a sibling pair who had an inherited from mosaic parent. Seven (33.3%)...
Abstract Context Prader-Willi syndrome (PWS) is a rare genetic disorder characterized by endocrine and neuropsychiatric problems including hyperphagia, anxiousness, distress. Intranasal carbetocin, an oxytocin analog, was investigated as selective replacement therapy. Objective To evaluate safety efficacy of intranasal carbetocin in PWS. Design Randomized, double-blind, placebo-controlled phase 3 trial with long-term follow-up. Setting Twenty-four ambulatory clinics at academic medical...
<h3>Background:</h3> Holoprosencephaly (HPE) is the most common structural malformation of human forebrain. There are several important HPE mutational target genes, including transcription factor <i>SIX3</i>, which encodes an early regulator Shh, Wnt, Bmp and Nodal signalling expressed in developing forebrain eyes all vertebrates. <h3>Objective:</h3> To characterise genetic clinical findings patients with <i>SIX3</i> mutations. <h3>Methods:</h3> Patients their family members were tested for...
De novo missense variants in CDK13 have been described as the cause of syndromic congenital heart defects seven individuals ascertained from a large cardiovascular malformations cohort. We aimed to further define phenotypic and molecular spectrum this newly disorder. To minimise ascertainment bias, we recruited nine additional with pathogenic clinical research exome laboratory sequencing cohorts. Each individual underwent dysmorphology exam comprehensive medical history review. demonstrate...
Next-generation sequencing is a powerful tool for the discovery of genes related to neurodevelopmental disorders (NDDs). Here, we report identification distinct syndrome due de novo or inherited heterozygous mutations in Tousled-like kinase 2 (TLK2) 38 unrelated individuals and two affected mothers, using whole-exome whole-genome technologies, matchmaker databases, international collaborations. Affected had consistent phenotype, characterized by mild-borderline delay (86%), behavioral (68%),...
Visceral myopathy with abnormal intestinal and bladder peristalsis includes a clinical spectrum megacystis-microcolon hypoperistalsis syndrome chronic pseudo-obstruction. The vast majority of cases are caused by dominant variants in ACTG2; however, the overall genetic architecture visceral has not been well-characterized. We ascertained 53 families, based on megacystis, functional bladder/gastrointestinal obstruction, or microcolon. A combination targeted ACTG2 sequencing exome was used....
Abstract Results of Office Naval Research (ONR)- and National Science Foundation (NSF)-sponsored collaborative coastal science experiments using underwater gliders were reported at the E.U./U.S. Baltic Sea conference in 2006. The Oceanic Atmospheric Administration (NOAA) recognized parallel educational potential issued a trans-Atlantic challenge—modify one fly it across Atlantic, entraining inspiring students along way. Leveraging experience NSF Centers for Ocean Sciences Education...
Objective: To investigate 2- to 5-way patterns of defects co-occurring with orofacial clefts using data from a population-based registry. Design: We used the Texas Birth Defects Registry for deliveries between 1999 and 2014 residents, including 1884 cases cleft palate (CP) 5289 lip or without (CL±P) known syndrome. identified CP CL±P observed more frequently than would be expected if these occurred independently. calculated adjusted observed-to-expected ( O/ E) ratios account tendency birth...
Pseudohypoparathyroidism type la (PHP-1a) is an uncommon disorder that results from inactivating mutation in the GNAS gene. It can present with resistance to several hormones, addition parathyroid hormone (PTH). Patients may have classic Albright's hereditary osteodystrophy (AHO) phenotype and develop thyroid stimulating (TSH), gonadotropins, growth releasing (GHRH), other hormones rely on Gsalpha protein regulate signal transmission at their receptors. We report two siblings PHP-1a...
Abstract The non‐POU domain containing, octamer‐binding gene, NONO , is located on chromosome Xq13.1 and encodes a member of small family RNA DNA binding proteins that perform variety tasks involved in synthesis, transcriptional regulation repair. Hemizygous loss‐of‐function variants have been shown to cause mental retardation, X‐linked, syndromic 34 males. Features this disorder can include range neurodevelopmental phenotypes, left ventricular noncompaction (LVNC), congenital heart defects,...
We report a case of Pallister-Killian syndrome initially diagnosed prenatally as tetrasomy 21. A 33-year-old primiparous woman was noted at 24 weeks' gestation to have moderate polyhydramnios. Ultrasonography showed diminished fetal stomach filling, hydronephrosis, and prominence the cisterna magna. Cytogenetic analysis cultured amniocytes interpreted mosaic 21: 46,XX/47,XX,+i(21q). The patient then referred our centre for genetic counselling. At 34 gestation, dysmorphic infant delivered...
The study is aimed at widening the clinical and genetic spectrum assessing genotype-phenotype associations in QARS encephalopathy.Through diagnostic gene panel screening an epilepsy cohort, recruiting through GeneMatcher our international network, we collected 10 patients with biallelic variants. In addition, data on 12 described literature to further delineate associated phenotype a total cohort of 22 patients. Computer modeling was used assess changes protein folding.Biallelic pathogenic...