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Elaine M. Pereira
Elaine M. Pereira
Columbia University
Genetics
Medicine
Exome sequencing
Short stature
Dermatology
7
Papers
19
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3q27.1 Microdeletion Causes a Clinically Recognizable Syndrome Characterized by Severe Prenatal and Postnatal Growth Restriction and Neurodevelopmental Abnormalities
2021
Subit Barua
Elaine M. Pereira
Vaidehi Jobanputra
Kwame Anyane-Yeboa
Brynn Levy
Jun Liao
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A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report
2021
BMC Neurology
Natalie Lippa
Subit Barua
Vimla Aggarwal
Elaine M. Pereira
Jennifer M. Bain
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LATE BREAKING NEWS E-POSTER PRESENTATION
2020
Neuromuscular Disorders
Julius Rönkkö
Svetlana M. Molchanova
Anya Revah-Politi
Elaine M. Pereira
Mari Auranen
Jussi Toppila
Jouni Kvist
Anastasia Ludwig
Julika Neumann
Stéphanie Humblet-Baron
Geert Bultynck
Adrian Liston
Anders Patau
Claudio Rivera
Matthew B. Harms
Henna Tyynismaa
Emil Ylikallio
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CARMIL2-related immunodeficiency manifesting with photosensitivity.
2020
Pediatric Dermatology
Leila H. Shayegan
Maria C. Garzon
Kimberly D. Morel
Rachel Borlack
Patricia M Vuguin
Kara Gross Margolis
Yesim Yilmaz-Demirdag
Elaine M. Pereira
Christine T. Lauren
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Dominant mutations in ITPR3 cause Charcot-Marie-Tooth disease.
2020
Annals of clinical and translational neurology
Julius Rönkkö
Svetlana M. Molchanova
Anya Revah-Politi
Elaine M. Pereira
Mari Auranen
Jussi Toppila
Jouni Kvist
Anastasia Ludwig
Julika Neumann
Geert Bultynck
Stéphanie Humblet-Baron
Adrian Liston
Anders Paetau
Claudio Rivera
Matthew B. Harms
Henna Tyynismaa
Emil Ylikallio
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