E. Conboy

发表

Novel Homozygous Variant in TTC19 Causing Mitochondrial Complex III Deficiency with Recurrent Stroke-Like Episodes: Expanding the Phenotype.

M. Brodsky, Mai‐Lan Ho, R. Gavrilova, 2018, Seminars in pediatric neurology.

Prevention of glucocorticoid-induced osteoporosis: experience in a managed care setting.

J. Gurwitz, L. Harrold, L. Fish, 2001, Archives of internal medicine.

The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients

P. Blackburn, D. Babovic‐Vuksanovic, B. Lanpher, 2017, Molecular genetics and metabolism reports.

Otolithic activation on visceral circulation in humans: effect of aging.

C. Ray, Charity L. Sauder, E. Conboy, 2008, American journal of physiology. Renal physiology.

Reanalysis of a novel variant in the IGF1R gene in a family with variable prenatal and postnatal growth retardation and dysmorphic features: benefits and feasibility of IUSM–URDC (Undiagnosed Rare Disease Clinic) program

B. Helm, Francesco Vetrini, C. Burns, 2022, Cold Spring Harbor molecular case studies.

RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.

H. Prokisch, Ryan J Schulze, M. McNiven, 2019, American journal of human genetics.

Diagnostic deserts: Community-level barriers to appropriate genetics services.

T. Doyle, C. Halverson, E. Conboy, 2022, American journal of medical genetics. Part A.

D. Deyle, J. Bennett, E. Conboy, 2018 .

Diagnosis of Attenuated Mucopolysaccharidosis VI: Clinical, Biochemical, and Genetic Pitfalls

B. Lanpher, E. Klee, F. Pinto e Vairo, 2018, Pediatrics.

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

J. Rosenfeld, R. Pfundt, M. Shaw, 2018, American journal of human genetics.

An Adolescent with a Rare De Novo Distal Trisomy 6p and Distal Monosomy 6q Chromosomal Combination

D. Weaver, G. Vance, E. Conboy, 2020, Case reports in genetics.

Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective

M. Patterson, S. Kirmani, B. Wical, 2015, Molecular Syndromology.

Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines

A. Clayton, P. Dyck, Jing Xie, 2015, Journal of Medical Genetics.

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.

David R. Murdock, Michael F. Wangler, J. Rosenfeld, 2020, American journal of human genetics.

Dendrite remodeling and other abnormalities in the retinal ganglion cells of Ins2 Akita diabetic mice.

Allen R Kunselman, Matthew J Gastinger, A. Kunselman, 2008, Investigative ophthalmology & visual science.

Hyperammonemic encephalopathy in a patient with fibrolamellar hepatocellular carcinoma: case report and literature review.

S. Alberts, B. Lanpher, T. Halfdanarson, 2019, Journal of gastrointestinal oncology.

RNA‐Seq detects a SAMD12‐EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas

Gavin R. Oliver, E. Thorland, P. Blackburn, 2019, Molecular genetics & genomic medicine.

Case of IFT140-associated Mainzer Saldino Syndrome

E. Conboy, Saaquib R. Bakhsh, Shivam H Patel, 2022, Ophthalmic genetics.

A Severe Case of Congenital Thrombotic Thrombocytopenia Purpura Resulting From Compound Heterozygosity Involving a Novel ADAMTS13 Pathogenic Variant

Dong Chen, D. Warad, C. Arndt, 2017, Journal of pediatric hematology/oncology.

Characterization of a novel deep-intronic variant in DYNC2H1 identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III

B. Graham, Kristen Suhrie, B. Helm, 2022, Cold Spring Harbor molecular case studies.

Amyloid-beta(1-42) rapidly forms protofibrils and oligomers by distinct pathways in low concentrations of sodium dodecylsulfate.

T. Rosenberry, Vijayaraghavan Rangachari, D. Hartigan, 2007, Biochemistry.

Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation

C. Ober, Soma Das, D. Waggoner, 2017, Case reports in genetics.

Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria.

R. Giugliani, P. Rinaldo, D. Matern, 2019, Molecular genetics and metabolism.

Endurance training reduces renal vasoconstriction to orthostatic stress.

C. Ray, Charity L. Sauder, E. Conboy, 2010, American journal of physiology. Renal physiology.

A familial SAMD9 variant present in pediatric myelodysplastic syndrome

M. Czader, Amanda J. Saraf, E. Conboy, 2023, Cold Spring Harbor molecular case studies.

Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features.

M. Schultz, B. Lanpher, E. Klee, 2018, JIMD reports.

Cryptogenic Cirrhosis and Sitosterolemia: A Treatable Disease If Identified but Fatal If Missed.

P. Kamath, D. Babovic‐Vuksanovic, K. Watt, 2017, Annals of hepatology.

De novo and inherited variants in DDX39B cause a Novel Syndrome Characterized by Neurodevelopmental Delay, Short Stature, and Congenital Hypotonia

Michael F. Wangler, H. Bellen, Sharayu Jangam, 2023, medRxiv.