Louise Amlie-Wolf, CGC

SOX2 pathogenic variants with normal eyes: Expanding the phenotypic spectrum; American Journal of Medical Genetics Part A; (2023).

Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study; American Journal of Medical Genetics Part A; (2022).

Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates; Cell Reports; (2021).

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome; American Journal of Medical Genetics, Part A; (2021).

Novel genetic testing model: A collaboration between genetic counselors and nephrology; American Journal of Medical Genetics Part A; (2021).

Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.; American journal of medical genetics. Part A; (2021).

De novo missense variants in <i>LMBRD2</i> are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features.; Journal of medical genetics; (2020).

Three new patients with Steel syndrome and a Puerto Rican specific COL27A1 mutation; American Journal of Medical Genetics Part A; (2020).

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.; Brain : a journal of neurology; (2020).