Ganka Douglas
A5055185304- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- RNA modifications and cancer
- RNA Research and Splicing
- Congenital heart defects research
- RNA and protein synthesis mechanisms
- Metabolism and Genetic Disorders
- Ubiquitin and proteasome pathways
- Mitochondrial Function and Pathology
- Cancer Genomics and Diagnostics
- Cancer-related gene regulation
- Renal and related cancers
- RNA regulation and disease
- Sexual Differentiation and Disorders
- Urological Disorders and Treatments
- Extracellular vesicles in disease
- Cardiomyopathy and Myosin Studies
- Cystic Fibrosis Research Advances
- Congenital Ear and Nasal Anomalies
- Biochemical and Molecular Research
- Immunodeficiency and Autoimmune Disorders
- Neurological diseases and metabolism
- Metalloenzymes and iron-sulfur proteins
- Genetic Syndromes and Imprinting
Genex Systems (United States)
2016-2020
Baylor College of Medicine
2010-2012
Texas Children's Hospital
2010-2012
Cancer Genetics (United States)
2012
Chromatin remodeling is of crucial importance during brain development. Pathogenic alterations several chromatin ATPases have been implicated in neurodevelopmental disorders. We describe an index case with a de novo missense mutation CHD3, identified whole genome sequencing cohort children rare speech To gain comprehensive view features associated disruption this gene, we use genotype-driven approach, collecting and characterizing 35 individuals CHD3 mutations overlapping phenotypes. Most...
Neuroligins are post‐synaptic, cellular adhesion molecules implicated in synaptic formation and function. NLGN2 is strongly linked to inhibitory, GABAergic signaling crucial for maintaining the excitation‐inhibition balance brain. Disruption of associated with neuropsychiatric disease. In animal models, altered expression causes anxiety, developmental delay, motor discoordination, social impairment, aggression, sensory processing defects. humans, mutations NLGN3 NLGN4 autism schizophrenia;...
A hallmark of neurodegeneration is defective protein quality control. The E3 ligase Listerin (LTN1/Ltn1) acts in a specialized control pathway-Ribosome-associated Quality Control (RQC)-by mediating proteolytic targeting incomplete polypeptides produced by ribosome stalling, and Ltn1 mutation leads to mice. Whether results from RQC whether contributes human disease have remained unknown. Here we show that three independently-generated mouse models with mutations different component the...
TANGO2-related disorders were first described in 2016 and prior to this publication, only 15 individuals with disorder the literature. Primary features include metabolic crisis rhabdomyolysis, encephalopathy, intellectual disability, seizures, cardiac arrhythmias. We assess whether genotype phenotype of has expanded since initial discovery determine efficacy exome sequencing (ES) as a diagnostic tool for detecting variants.We present series 14 from 11 unrelated families complex medical...
PurposeData on the clinical prevalence and spectrum of uniparental disomy (UPD) remain limited. Trio exome sequencing (ES) presents a comprehensive method for detection UPD alongside sequence copy-number variant analysis.MethodsWe analyzed 32,067 ES trios referred diagnostic testing to create profile events their disease associations. single-nucleotide polymorphism (SNP) data were used identify both whole-chromosome segmental categorize results as isodisomy, heterodisomy, or...
Cytoplasmic and nuclear iron-sulfur (Fe-S) enzymes that are essential for genome maintenance replication depend on the cytoplasmic Fe-S assembly (CIA) machinery cluster acquisition. The core of CIA consists a complex CIAO1, MMS19 FAM96B. physiological consequences loss function in components pathway have thus far remained uncharacterized. Our study revealed patients with biallelic CIAO1 developed proximal axial muscle weakness, fluctuating creatine kinase elevation, respiratory...
Mitochondrial DNA (mtDNA) deletions are a common cause of mitochondrial disorders. Large mtDNA can lead to broad spectrum clinical features with different age onset, ranging from mild myopathies (MM), progressive external ophthalmoplegia (PEO), and Kearns-Sayre syndrome (KSS), severe Pearson syndrome. The aim this study is investigate the molecular signatures surrounding deletion breakpoints their association phenotype at onset. MtDNA in 67 patients were characterized using array comparative...
We identified five unrelated individuals with significant global developmental delay and intellectual disability (ID), dysmorphic facial features frequent microcephaly, de novo predicted loss-of-function variants in chromosome alignment maintaining phosphoprotein 1 (CHAMP1). Our findings are consistent recently reported mutations CHAMP1 other similar features. is a zinc finger protein involved kinetochore-microtubule attachment required for regulating the proper of chromosomes during...
The Gender Medicine Team (GMT), comprised of members with expertise in endocrinology, ethics, genetics, gynecology, pediatric surgery, psychology, and urology, at Texas Children's Hospital Baylor College formed a task force to formulate consensus statement on practice guidelines for managing disorders sexual differentiation (DSD) making sex assignments. GMT reviewed published evidence incorporated findings from clinical experience. Grading Recommendations, Assessment, Development, Evaluation...
Whole-exome sequencing (WES) represents a significant breakthrough in clinical genetics, and identifies genetic etiology up to 30% of cases intellectual disability (ID). Using WES, we identified seven unrelated patients with similar phenotype severe or neurodevelopmental delay who were all heterozygous for de novo truncating variants the AT-hook DNA-binding motif-containing protein 1 (AHDC1). The minimally verbal nonverbal had variable neurological problems including spastic quadriplegia,...
SMAD2 is a downstream effector in the TGF-β signaling pathway, which important for pattern formation and tissue differentiation. Pathogenic variants have been reported association with arterial aneurysms dissections large cohorts of subjects complex congenital heart disease (CHD). We used whole exome sequencing (WES) to investigate molecular cause CHD other anomalies three probands an aneurysm additional patient. Patients 1 2 presented CHD, developmental delay, seizures, dysmorphic features,...
Gross deletions involving the MEIS2 gene have been described in a small number of patients with overlapping phenotypes atrial or ventricular septal defects, cleft palate, and variable developmental delays intellectual disability. Non-specific dysmorphic features were noted some patients, including broad forehead high anterior hairline, arched eyebrows, thin tented upper lip, short philtrum. Recently, patient de novo single amino acid deletion, c.998_1000delGAA (p.Arg333del), nonsense...
Abstract The RNA exosome is an essential ribonuclease complex required for processing and/or degradation of both coding and non-coding RNAs. We identified five patients with biallelic variants in EXOSC5, which encodes a structural subunit the exosome. clinical features these include failure to thrive, short stature, feeding difficulties, developmental delays that affect motor skills, hypotonia esotropia. Brain MRI revealed cerebellar hypoplasia ventriculomegaly. While we ascertained...