Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 36 publications
Novel KDM6A Kabuki Syndrome Mutation With Hyperinsulinemic Hypoglycemia and Pulmonary Hypertension Requiring ECMO.
Journal: Journal of the Endocrine Society
Published: July 27, 2021
The relationship between performance on the medical genetics and genomics in-training and certifying examinations.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 29, 2021
Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.
Journal: Brain : a journal of neurology
Published: May 25, 2020
Training the next generation of genomic medicine providers: trends in medical education and national assessment.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 27, 2020
A Phenotypic Female Adolescent with Primary Amenorrhea and Dysmorphic Features.
Journal: Pediatric annals
Published: December 13, 2019
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Journal: Brain : a journal of neurology
Published: July 05, 2019
A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity.
Journal: Neurogenetics
Published: October 23, 2018
Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals".
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 12, 2018
Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 28, 2018
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 20, 2017
The natural history of phytosterolemia: Observations on its homeostasis.
Journal: Atherosclerosis
Published: November 10, 2017
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 11, 2017
Last Updated: 09/26/2026