Category: Genetic

December 31, 2023

Genetics Corner: A New Case of Rubinstein-Taybi Syndrome with a Novel Variant in the CREBBP Gene Detected through Whole Exome Sequencing
November 30, 2023

Genetics Corner: An infant with a CHARGE-like syndrome and dual diagnoses: Xq28 duplication and Exon 38/39 KMT2D Missense Variant syndrome
October 31, 2023

A Newborn with Difficult Intubation Diagnosed with Treacher Collins Syndrome and Detection of a Novel Pathogenic Variant in TCOF1
February 28, 2023

Genetics Corner: HACD1-Associated Congenital Myopathy in an Infant of Chaldean Ethnicity.
January 31, 2023

Genetics Corner: Familial Duodenal Atresia Due to Feingold Syndrome
December 31, 2022

Genetics Corner: Mild Expression of COL7A1-Associated Epidermolysis Bullosa in a Mother and Child
October 31, 2022

Genetics Corner: Clinical Implementation and Improved Access of Whole-Genome Sequencing in the NICU: Learnings from a Virtual Educational Event
May 31, 2022

Clinical Pearl: A New Potential Biomarker for Sudden Infant Death Syndrome (SIDS): Butyrylcholinesterase
February 28, 2022

Abstracts from the California Association of Neonatologists Cool Topics in Neonatology 27th Annual Conference
January 31, 2022

Clinical Pearl: Evaluation of Stillbirth Among Pregnant People with Sickle Cell Trait
January 31, 2022

Infant Health Matters: Raising the Profile of Rare Diseases
January 31, 2022

Genetics Corner: “Coat-hanger” ribs and Bell-Shaped Thorax in an Infant with Paternal Uniparental Disomy for Chromosome 14
December 31, 2020

Genetics Corner: Risk of Epilepsy in an Asymptomatic Infant with Prenatally Diagnosed Tuberous Sclerosis
December 31, 2020

Ethics in Whole Genome Sequencing
December 31, 2020

Fellow Column: Identification of a Solitary Posterior Cervical Cystic Hygroma: A Case-report