Last Updated: 09/26/2026
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Found 23 publications
Transient Neonatal Cyanosis Exacerbated by Inhaled Nitric Oxide.
Journal: AJP reports
Published: January 13, 2026
New genotype-phenotype correlations and management recommendations for individuals with RERE variants.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 15, 2025
Complement Factor I Deficiency With Acute Hemorrhagic Leukoencephalitis and Longitudinally Extensive Transverse Myelitis: A Case Report.
Journal: Neurology(R) neuroimmunology & neuroinflammation
Published: September 10, 2025
Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B -Related Marbach-Schaaf Neurodevelopmental Syndrome: A Case Series.
Journal: Clinical genetics
Published: August 27, 2025
The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants.
Journal: Clinical genetics
Published: May 03, 2024
Short Stature and Brachydactyly in an 8-year-old Girl with Congenital Hypothyroidism.
Journal: Pediatrics in review
Published: March 31, 2024
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.
Journal: American journal of human genetics
Published: March 18, 2024
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.
Journal: American journal of human genetics
Published: September 23, 2023
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.
Journal: American journal of medical genetics. Part A
Published: June 13, 2023
CNKSR2-related neurodevelopmental and epilepsy disorder: a cohort of 13 new families and literature review indicating a predominance of loss of function pathogenic variants.
Journal: BMC medical genomics
Published: March 15, 2021
Response to Biesecker et al.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 16, 2020
The role of clinical response to treatment in determining pathogenicity of genomic variants.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 27, 2020
Last Updated: 09/26/2026