Eva Forman

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

A. Reghan Foley, Manoj P. Menezes, Amelie Pandraud et al. · Brain · 2013 · 182 citations · Full text

Life Sciences, Genetics, Neurology +15

<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 et al. · Brain · 2020 · 115 citations · Full text

Medicine, Molecular Genetics, Neurology +13

NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families

Maryam Al Shehhi, Eva Forman, Jacqueline Fitzgerald et al. · European Journal of Medical Genetics · 2018 · 73 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Increased Ca2+ signaling in NRXN1α+/− neurons derived from ASD induced pluripotent stem cells

Sahar Avazzadeh, Katya McDonagh, Jamie Reilly et al. · Molecular Autism · 2019 · 58 citations · Full text

Life Sciences, Neurobiology, Neuroscience +17

NRXN1α+/- is associated with increased excitability in ASD iPSC-derived neurons

Sahar Avazzadeh, Leo R. Quinlan, Jamie Reilly et al. · BMC Neuroscience · 2021 · 37 citations · Full text

Life Sciences, Genetics, Neuroscience +13