Mohammad K. Eldomery
A5073783704- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Genetic factors in colorectal cancer
- Congenital heart defects research
- RNA modifications and cancer
- Clinical practice guidelines implementation
- Acute Myeloid Leukemia Research
- RNA and protein synthesis mechanisms
- Healthcare cost, quality, practices
- Cancer Genomics and Diagnostics
- Mitochondrial Function and Pathology
- Medical Coding and Health Information
- Glioma Diagnosis and Treatment
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- RNA Research and Splicing
- Chromatin Remodeling and Cancer
- Hematological disorders and diagnostics
- Cardiomyopathy and Myosin Studies
- Neuroblastoma Research and Treatments
- Genetic and Kidney Cyst Diseases
- Machine Learning in Bioinformatics
- Renal cell carcinoma treatment
- Renal and related cancers
- BRCA gene mutations in cancer
St. Jude Children's Research Hospital
2024-2025
Baylor College of Medicine
2015-2022
Washington Center
2022
Texas Children's Hospital
2022
Riyadh Armed Forces Hospital
2020
Indiana University – Purdue University Indianapolis
2017-2020
Indiana University School of Medicine
2017-2020
University of Iowa
2020
Yale University
2020
University of Nebraska Medical Center
2020
Given the rarity of most single-gene Mendelian disorders, concerted efforts data exchange between clinical and scientific communities are critical to optimize molecular diagnosis novel disease gene discovery. We designed implemented protocols for study cases which a plausible was not achieved in genomics diagnostic laboratory (i.e. unsolved exomes). Such were recruited research further analyses, order potentially: (1) accelerate discovery; (2) increase yield whole exome sequencing (WES); (3)...
We developed an algorithm, HMZDelFinder, that uses whole exome sequencing (WES) data to identify rare and intragenic homozygous hemizygous (HMZ) deletions may represent complete loss-of-function of the indicated gene. HMZDelFinder was applied 4866 samples in Baylor-Hopkins Center for Mendelian Genomics (BHCMG) cohort detected 773 HMZ deletion calls (567 or 206 hemizygous) with estimated sensitivity 86.5% (82% single-exonic 88% multi-exonic calls) precision 78% (53% 96% calls). Out...
Dominant mutations in CACNA1A, encoding the α-1A subunit of neuronal P/Q type voltage-dependent Ca2+ channel, can cause diverse neurological phenotypes. Rare cases markedly severe early onset developmental delay and congenital ataxia be due to de novo CACNA1A missense alleles, with variants affecting S4 transmembrane segments some which are reported loss-of-function. Exome sequencing five individuals identified one novel variant (p.R1673P), a girl global progressive cerebellar atrophy,...
Abstract De novo variants in DDX 3X account for 1–3% of unexplained intellectual disability ( ID ) cases and are amongst the most common causes especially females. Forty‐seven patients (44 females, 3 males) have been described. We identified 31 additional individuals carrying 29 unique variants, including 30 postnatal with complex clinical presentations developmental delay or , one fetus abnormal ultrasound findings. Rare novel phenotypes observed include respiratory problems, congenital...
Mitochondrial presequence proteases perform fundamental functions as they process about 70 % of all mitochondrial preproteins that are encoded in the nucleus and imported posttranslationally. The intermediate protease MIP/Oct1, which carries out precursor processing, has not yet been established to have a role human disease. Whole exome sequencing was performed on four unrelated probands with left ventricular non-compaction (LVNC), developmental delay (DD), seizures, severe hypotonia....
<title>Abstract</title> Pediatric acute myeloid leukemia (AML) exhibits distinct genetic characteristics, including unique driver alterations and mutations with prognostic therapeutic significance. Emerging rare, recurrent abnormalities their associations outcomes emphasize the need for high-throughput molecular diagnostic tools. Whole genome sequencing (WGS) reliably detects key AML biomarkers such as structural variants, mutations, copy number alterations. transcriptome (WTS) complements...
Abstract Background FOXR2 activation is regarded as pathognomonic for CNS neuroblastoma (NB). However, a comprehensive understanding of the landscape tumors exhibiting lacking. Methods Histopathologic, molecular, imaging, and clinical data 42 with overexpression identified through screening institutional datasets published cases were analyzed. Results Among tumors, 21 (50.0%) high-grade gliomas (HGGs), 18 (42.9%) embryonal tumors. The HGGs included ten H3 K27M-mutant diffuse midline (DMGs)...
The association of childhood cancer with Lynch syndrome is not established compared the significant pediatric risk in recessive constitutional mismatch repair deficiency (CMMRD).We describe clinical features, germline analysis, and tumor genomic profiling patients among enrolled studies.There were six 773 (0.8%) solid tumors identified syndrome, defined as a heterozygous pathogenic variant one (MMR) genes (three MSH6, two MLH1, MSH2). Tumor analysis demonstrated evidence for somatic second...