May 13, 2020

Clinical validation and diagnostic rate/outcomes of a dual molecular diagnostic assay for myotonic dystrophy 1.

Maxime Cadieux-Dion, Children's Mercy Hospital
Isabelle Thiffault, Children's Mercy Hospital
Midhat S. Farooqi, Children's Mercy Hospital
Joseph Alaimo, Children's Mercy Hospital

11:30 AM - 1:30 PM

CORRELATION BETWEEN ZINC AND HEMOGLOBIN F

Oluwaseun Olaiya, Children's Mercy Hospital
Ashley K. Sherman, Children's Mercy Hospital
Nazia Tabassum, Children's Mercy Hospital
Gerald Woods, Children's Mercy Hospital

11:30 AM - 1:30 PM

Dehydrated Hereditary Stomatocytosis Causing Severe Ascites Leading to Pulmonary Hypoplasia and Respiratory Insufficiency in a Neonate

Michael D. McDowell Jr, Children's Mercy Hospital and Clinics

11:30 AM - 1:30 PM

Disparities in Access to Services for Children Undergoing Routine Autism/Developmental Screening in Primary Care

Caroline Pittard, Children's Mercy Hospital
Laura Hansen, Children's Mercy Hospital
Cy Nadler, Children's Mercy Hospital
Sarah Nyp, Children's Mercy Hospital

11:30 AM - 1:30 PM

Familial Hypocalciuric Hypercalcemia (FHH) due to a c.571G>A (p.Glu191Lys) variant in the GNA11 gene

Henry S. Jeng Dr, CMH

11:30 AM - 1:30 PM

Feasibility of Using Cerner Health Facts to Characterize Comorbid Down Syndrome and Autism Spectrum Disorder

Michael Slogic, Children's Mercy Hospital

11:30 AM - 1:30 PM

Identification of Clinically-Relevant Sequence Variants Within the Human Reference Genome

Lisa A. Lansdon, Children's Mercy Kansas City

11:30 AM - 1:30 PM

Performance Analysis of Three Bioinformatic Variant Callers Using a Somatic Reference Standard

Binu Porath
Binu Porath

11:30 AM - 1:30 PM

Specific degradation of misfolded mutant p53 in cancer cells through the use of natural compounds targeting mutant p53 and DNAJA1 proteins

Mohamed A.A. Alalem, Children's Mercy Hospital

11:30 AM - 1:30 PM