Louise Amlie-Wolf
6PUBLICATIONS
32CO-AUTHORS
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Publications (6)
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|May 10, 2023
SOX2 pathogenic variants with normal eyes: Expanding the phenotypic spectrum.Onochie Okoye, Jenina Capasso, Sarina M Kopinsky
|Sep 25, 2021
Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study.Louise Amlie-Wolf, Tanya Bardakjian, Sarina M Kopinsky
|Mar 30, 2021
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.Sarah E Sheppard, Ian M Campbell, Margaret H Harr
|Feb 01, 2021
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.Kevin E Glinton, Anna C E Hurst, Kevin M Bowling
|Jan 21, 2021
Novel genetic testing model: A collaboration between genetic counselors and nephrology.Louise Amlie-Wolf, Laura Baker, Olivia Hiddemen
|Jan 07, 2020
Three new patients with Steel syndrome and a Puerto Rican specific COL27A1 mutation.Louise Amlie-Wolf, Sue Moyer-Harasink, Ann-Marie Carr
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Frequent Collaborators
1 joint publications
Philip Giampietro
1 joint publications
Kevin E Glinton
1 joint publications
Anna C E Hurst
1 joint publications
Devon Haynes
1 joint publications
Saskia Koene
1 joint publications
Allan Bayat
1 joint publications
Julian Martinez
1 joint publications
Alina T Midro
1 joint publications
Felix Boschann
1 joint publications
Pawel Stankiewicz
