Last Updated: 09/26/2026
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Found 29 publications
Case of CLPB deficiency solved by HiFi long read genome sequencing and RNAseq.
Journal: American journal of medical genetics. Part A
Published: March 31, 2023
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Journal: American journal of medical genetics. Part A
Published: March 23, 2023
Learning by doing and creation of the shared discovery curriculum.
Journal: Medical education online
Published: February 25, 2023
A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro-Caribbean individual.
Journal: Molecular genetics & genomic medicine
Published: July 21, 2022
Teaching perspectives on the communication of difficult news of genetic conditions to medical students.
Journal: American journal of medical genetics. Part A
Published: March 25, 2022
Correction to: Focused Revision: Policy statement on folic acid and neural tube defects.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 20, 2021
Focused Revision: Policy statement on folic acid and neural tube defects.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 12, 2021
Literature review: Genetic conditions or anomalies in artworks.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: December 14, 2020
Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: October 13, 2020
Correction: Addendum: ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 27, 2020
Addendum: ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 13, 2020
Emotional intelligence in undergraduate medical students: a scoping review.
Journal: Advances in health sciences education : theory and practice
Published: March 06, 2020
Last Updated: 09/26/2026