Last Updated: 09/26/2026
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Found 9 publications
Acute Choreoathetosis and Multisystem Inflammatory Syndrome in Children (MIS-C) Associated With a Novel Homozygous MDH2 Variant.
Journal: Journal of child neurology
Published: May 19, 2026
Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.
Journal: American journal of human genetics
Published: October 21, 2019
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.
Journal: American journal of medical genetics. Part A
Published: October 25, 2017
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 17, 2016
Adolescents' preferences regarding disclosure of incidental findings in genomic sequencing that are not medically actionable in childhood.
Journal: American journal of medical genetics. Part A
Published: October 23, 2015
Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome.
Journal: Human molecular genetics
Published: October 14, 2015
Neurological and cardiac responses after treatment with miglustat and a ketogenic diet in a patient with Sandhoff disease.
Journal: European journal of medical genetics
Published: May 10, 2014
Laboratory policies on reporting secondary findings in clinical whole exome sequencing: initial uptake of the ACMG's recommendations.
Journal: American journal of medical genetics. Part A
Published: September 13, 2013
A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia.
Journal: American journal of medical genetics. Part A
Published: September 11, 2013
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Last Updated: 09/26/2026