Elaine Maria Pereira
5PUBLICATIONS
17CO-AUTHORS
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Publications (5)
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|Dec 16, 2023
Exploring the evolving roles of clinical geneticists and genetic counselors in the era of genomic medicine.Andrew Freiman, Aisha Rekab, Amanda L Bergner
|Apr 09, 2023
Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.Amanda Thomas-Wilson, John P Schacht, David Chitayat
|Oct 08, 2022
Assessment of the beliefs, needs, and expectations for genetic counseling of patients with hypermobile Ehlers-Danlos syndrome.Priyanka Ahimaz, Tamar Kramer, Pooja Swaroop
|Sep 08, 2022
De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission.Konrad Platzer, Heinrich Sticht, Caleb Bupp
|Jun 06, 2020
COVID-19's Impact on Genetics at One Medical Center in New York.Elaine M Pereira, Wendy K Chung
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Frequent Collaborators
2 joint publications
Mythily Ganapathi
2 joint publications
Priyanka Ahimaz
1 joint publications
Konrad Platzer
1 joint publications
Heinrich Sticht
1 joint publications
Caleb Bupp
1 joint publications
Gwenaël Le Guyader
1 joint publications
Frederic Bilan
1 joint publications
Johannes R Lemke
1 joint publications
Holger Taschenberger
1 joint publications
Nils Brose
