Ruth Sheffer Selected Research

Neurodevelopmental Disorders

1/2022	Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability.
1/2022	Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.

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Ruth Sheffer Research Topics

Disease

2	Neurodevelopmental Disorders 01/2022 - 01/2022
1	Blue cone monochromatism 01/2022
1	Brain Diseases (Brain Disorder) 10/2019
1	Peripheral Nervous System Diseases (PNS Diseases) 01/2019
1	Atrophy 01/2019
1	Cerebellar Ataxia (Dysmetria) 01/2019
1	Epilepsy (Aura) 01/2018
1	Hearing Loss (Hearing Impairment) 01/2018
1	Hereditary Spastic Paraplegia 02/2015
1	Acrocephalosyndactylia (Apert Syndrome) 12/2003

Drug/Important Bio-Agent (IBA)

3	Proteins (Proteins, Gene)FDA Link 01/2022 - 02/2015
2	GTP-Binding Proteins (G-Protein)IBA 01/2022 - 01/2019
1	Cone OpsinsIBA 01/2022
1	Growth Hormone (Somatotropin)IBA 10/2019
1	TubulinIBA 01/2019
1	Adenosine Triphosphate (ATP)IBA 01/2019
1	Histidine (L-Histidine)FDA Link 01/2018
1	Glutamine (L-Glutamine)FDA Link 01/2018
1	Basic Helix-Loop-Helix Transcription FactorsIBA 12/2003