Last Updated: 09/26/2026
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Found 60 publications
Medical genetics education for pediatrics residents: A brief report.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 09, 2022
Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 21, 2020
Addendum: Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 14, 2020
Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A).
Journal: Journal of neuropathology and experimental neurology
Published: March 08, 2020
RASopathies: A significant cause of polyhydramnios?
Journal: Prenatal diagnosis
Published: February 06, 2020
Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 21, 2019
Annemarie Sommer memorial.
Journal: American journal of medical genetics. Part A
Published: June 21, 2019
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Journal: Human mutation
Published: May 31, 2019
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy.
Journal: American journal of medical genetics. Part A
Published: February 21, 2019
Prenatally diagnosed omphalocele: characteristics associated with adverse neonatal outcomes.
Journal: Journal of perinatology : official journal of the California Perinatal Association
Published: January 25, 2019
DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 10, 2019
Cornelia de Lange syndrome in diverse populations.
Journal: American journal of medical genetics. Part A
Published: June 05, 2018
Last Updated: 09/26/2026