Julie Vogt Selected Research

Intellectual Disability (Idiocy)

7/2022	Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology.
1/2022	Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.
10/2019	Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.
1/2019	Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
8/2015	B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.

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Julie Vogt Research Topics

Disease

5	Intellectual Disability (Idiocy) 07/2022 - 08/2015
3	Seizures (Absence Seizure) 11/2022 - 05/2017
2	Thoracic Aortic Aneurysm 01/2021 - 01/2017
2	Multiple pterygium syndrome 12/2014 - 01/2012
1	Febrile Seizures (Febrile Seizure) 11/2022
1	Symptom Flare Up 11/2022
1	Epilepsy (Aura) 11/2022
1	Myoclonic Epilepsies (Myoclonic Encephalopathy) 11/2022
1	Migraine with Aura (Familial Hemiplegic Migraine) 11/2022
1	Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy) 01/2022
1	Movement Disorders (Movement Disorder) 01/2022
1	Cortical Blindness (Anton Syndrome) 01/2019
1	Strabismus (Squint) 01/2019
1	Plagiocephaly 01/2019
1	Brain Diseases (Brain Disorder) 05/2017
1	Osteogenesis Imperfecta (Lobstein Disease) 01/2017
1	Mitochondrial Diseases (Mitochondrial Disease) 11/2016
1	Neurologic Manifestations (Neurological Manifestations) 11/2016
1	hereditary Xerocytosis 09/2015
1	Edema (Dropsy) 09/2015
1	Muscle Hypotonia (Hypotonia) 08/2015
1	Hypertelorism 08/2015
1	type 1 Pena Shokeir syndrome 01/2012
1	Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital) 01/2008

Drug/Important Bio-Agent (IBA)

5	Proteins (Proteins, Gene)FDA Link 07/2022 - 11/2016
1	Lamotrigine (Lamictal)FDA LinkGeneric 11/2022
1	Oxcarbazepine (Trileptal)FDA LinkGeneric 11/2022
1	Lacosamide FDA Link 11/2022
1	Carbamazepine (Tegretol)FDA LinkGeneric 11/2022
1	Phenytoin (Dilantin)FDA LinkGeneric 11/2022
1	Sodium Channel BlockersIBA 11/2022
1	Voltage-Gated Sodium ChannelsIBA 11/2022
1	EnzymesIBA 01/2022
1	Karyopherins (Importin)IBA 01/2021
1	RNA Polymerase II (RNA Polymerase B)IBA 10/2019
1	UbiquitinIBA 05/2017
1	BiglycanIBA 01/2017
1	CalciumIBA 01/2017
1	1,3,4,6- tetra- O- acetyl- 2- azido- 2- deoxyglucopyranose (TAAD)IBA 01/2017
1	Ion Channels (Ion Channel)IBA 09/2015
1	Threonine (L-Threonine)FDA Link 08/2015
1	Phosphoprotein Phosphatases (Phosphatases, Protein)IBA 08/2015
1	Serine (L-Serine)FDA Link 08/2015
1	Protein Phosphatase 2 (Protein Phosphatase 2A)IBA 08/2015
1	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 12/2014
1	Cholinergic ReceptorsIBA 01/2012
1	peripheral membrane protein 43KIBA 01/2008

Therapy/Procedure

1	Therapeutics 11/2022
1	Gastrostomy 01/2019
1	Renal Replacement Therapy (Therapies, Renal Replacement) 11/2016