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Laura Cif

5PUBLICATIONS

22CO-AUTHORS

Testing, assessment and psychometricsMedical infection agents (incl. prions)Digital processor architecturesNeurogeneticsEpigenetics (incl. genome methylation and epigenomics)

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Publications (5)

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|May 20, 2025

Clinical and Neurodevelopmental Characteristics of Paralogous Gain-of-Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803.

Emilie Sjøstrøm, Dorota Studniarczyk, Xinyao Dou

|Feb 24, 2025

<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Laura Cif, Diane Demailly, Jean-Pierre Lin

|Dec 01, 2023

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.

Berardo Rinaldi, Allan Bayat, Linda G Zachariassen

|Jun 23, 2022

Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.

Matthew N Bainbridge, Aloran Mazumder, Daisuke Ogasawara

|Jun 02, 2021

Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome.

Jennifer Friedman, Lynne M Bird, Richard Haas

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Frequent Collaborators

1 joint publications

Enrico Bertini

1 joint publications

Siddharth Srivastava

1 joint publications

Isabella Thiffault

1 joint publications

Svasti Haricharan

1 joint publications

Ali Torkamani

1 joint publications

Berardo Rinaldi

1 joint publications

Allan Bayat

1 joint publications

Mélanie Fradin

1 joint publications

Vincent Cruz

1 joint publications

John Christodoulou

Frequent Collaborators

1 joint publications

Enrico Bertini

1 joint publications

Siddharth Srivastava

1 joint publications

Isabella Thiffault

1 joint publications

Svasti Haricharan

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