Wendy K Chung Selected Research

Muscle Hypotonia (Hypotonia)

1/2018	Pulmonary hypertension in patients with 9q34.3 microdeletion-associated Kleefstra syndrome.
11/2017	De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism.
11/2016	De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features.
1/2016	A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects.
1/2016	De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.
1/2016	Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females.
9/2015	Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.

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Wendy K Chung Research Topics

Disease

23	Breast Neoplasms (Breast Cancer) 01/2022 - 04/2012
22	Neoplasms (Cancer) 01/2022 - 01/2007
14	Neurodevelopmental Disorders 06/2022 - 10/2015
14	Intellectual Disability (Idiocy) 01/2022 - 09/2015
10	Congenital Heart Defects (Congenital Heart Defect) 01/2022 - 06/2009
10	Obesity 01/2021 - 11/2002
8	Microcephaly 01/2021 - 06/2010
7	Autistic Disorder (Autism) 01/2022 - 12/2011
7	Muscle Hypotonia (Hypotonia) 01/2018 - 09/2015
7	Pulmonary Arterial Hypertension 12/2016 - 04/2009
6	Epilepsy (Aura) 01/2021 - 11/2014
5	Hereditary Hemorrhagic Telangiectasia 11/2014 - 06/2009
4	Heart Failure 08/2022 - 07/2010
4	Cardiomyopathies (Cardiomyopathy) 01/2022 - 06/2011
4	Cardiac Sudden Death (Sudden Cardiac Arrest) 12/2021 - 06/2011
4	Ovarian Neoplasms (Ovarian Cancer) 01/2019 - 10/2010
4	Parkinson Disease (Parkinson's Disease) 01/2019 - 06/2014
4	Gaucher Disease (Gaucher's Disease) 01/2018 - 02/2014
4	Seizures (Absence Seizure) 01/2018 - 06/2010
3	Heart Diseases (Heart Disease) 01/2022 - 04/2012
3	Genetic Risk Score 10/2021 - 01/2020
3	Weight Loss (Weight Reduction) 01/2021 - 01/2014
3	Ataxia (Dyssynergia) 11/2017 - 06/2010
3	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 09/2017 - 10/2014
3	Hyperglycemia 09/2009 - 09/2006
2	Congenital Diaphragmatic Hernias 08/2022 - 01/2017
2	Leigh Disease (Leigh's Disease) 01/2022 - 10/2018
2	Sensorineural Hearing Loss 11/2021 - 09/2015
2	Nervous System Diseases (Neurological Disorders) 04/2021 - 10/2020
2	Inborn Genetic Diseases (Disease, Hereditary) 01/2021 - 01/2018
2	Pulmonary Veno-Occlusive Disease (Veno Occlusive Disease, Pulmonary) 01/2021 - 11/2014
2	Aneuploidy (Aneuploid) 01/2020 - 01/2018
2	Retinitis Pigmentosa (Pigmentary Retinopathy) 12/2019 - 01/2011
2	Pulmonary Hypertension 04/2019 - 01/2017
2	Neurodegenerative Diseases (Neurodegenerative Disease) 11/2018 - 03/2015
2	Lung Diseases (Lung Disease) 01/2018 - 01/2018
2	Inborn Errors Metabolism (Inborn Errors of Metabolism) 01/2016 - 01/2014
2	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 01/2013 - 10/2010
2	Long QT Syndrome 01/2013 - 10/2009
2	Type 2 Maturity-Onset Diabetes of the Young 01/2013 - 09/2006
2	Glut1 Deficiency Syndrome 12/2011 - 06/2010
2	Genetic Predisposition to Disease (Genetic Predisposition) 10/2011 - 06/2009
2	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 06/2011 - 05/2010
2	Body Weight (Weight, Body) 01/2011 - 06/2010
2	Type 2 Diabetes Mellitus (MODY) 09/2009 - 09/2006
2	Type 1 Diabetes Mellitus (Autoimmune Diabetes) 09/2009 - 09/2006

Drug/Important Bio-Agent (IBA)

20	Proteins (Proteins, Gene)FDA Link 01/2022 - 04/2008
10	DNA (Deoxyribonucleic Acid)IBA 06/2022 - 01/2007
9	Biological ProductsIBA 10/2021 - 12/2011
8	EnzymesIBA 11/2020 - 12/2011
6	RNA (Ribonucleic Acid)IBA 01/2021 - 06/2013
6	Bone Morphogenetic Proteins (Bone Morphogenetic Protein)IBA 10/2014 - 06/2009
5	Carrier Proteins (Binding Protein)IBA 11/2021 - 05/2010
5	Estrogen ReceptorsIBA 01/2020 - 04/2012
5	Phosphotransferases (Kinase)IBA 01/2020 - 06/2009
5	Glucosylceramidase (Glucocerebrosidase)IBA 01/2018 - 02/2014
5	Glucose (Dextrose)FDA LinkGeneric 11/2014 - 09/2006
4	NucleotidesIBA 01/2022 - 04/2015
4	Transcription Factors (Transcription Factor)IBA 01/2020 - 07/2011
3	7-(N-(3-aminopropyl)amino)heptan-2-oneIBA 10/2021 - 01/2021
3	SteroidsIBA 01/2021 - 01/2008
3	Messenger RNA (mRNA)IBA 01/2021 - 01/2011
3	Biomarkers (Surrogate Marker)IBA 10/2020 - 01/2020
3	Insulin-Like Growth Factor I (IGF-1)IBA 10/2020 - 01/2007
3	Adenosine Triphosphate (ATP)IBA 10/2020 - 10/2015
3	Histones (Histone)IBA 01/2018 - 06/2013
3	GlucokinaseIBA 01/2013 - 09/2006
3	Pharmaceutical PreparationsIBA 01/2013 - 06/2009
3	EndoglinIBA 06/2012 - 06/2009
2	Oral ContraceptivesIBA 01/2021 - 04/2018
2	PhosphoproteinsIBA 01/2021 - 01/2016
2	AndrogensIBA 01/2021 - 01/2019
2	Leptin ReceptorsIBA 12/2020 - 01/2011
2	Adrenocorticotropic Hormone (ACTH)FDA Link 11/2020 - 12/2016
2	Progesterone Receptors (Progesterone Receptor)IBA 01/2020 - 01/2017
2	Protein Serine-Threonine Kinases (Protein-Serine-Threonine Kinase)IBA 01/2020 - 01/2016
2	ChromatinIBA 10/2019 - 10/2015
2	Sodium Channels (Sodium Channel)IBA 10/2019 - 01/2018
2	Hormones (Hormone)IBA 04/2019 - 01/2019
2	AcidsIBA 01/2019 - 01/2014
2	2- amino- 1- methyl- 6- phenylimidazo(4,5- b)pyridineIBA 01/2019 - 11/2016
2	Transaminases (Aminotransferases)IBA 01/2019 - 09/2015
2	Caveolin 1IBA 12/2016 - 11/2014
2	Type II Bone Morphogenetic Protein Receptors (Bone Morphogenetic Protein Receptor Type II)IBA 02/2016 - 11/2014
2	GlycogenIBA 11/2014 - 01/2011
2	activin receptor type II-A (activin A receptor, type II)IBA 10/2014 - 12/2013
2	Transforming Growth Factor beta (TGF-beta)IBA 06/2012 - 06/2009
2	Transforming Growth Factors (Transforming Growth Factor)IBA 06/2012 - 10/2011
2	Activins (Activin)IBA 10/2011 - 06/2009
2	hydralazine 4-anisaldehyde hydrazoneIBA 10/2011 - 06/2009
2	Enalapril FDA LinkGeneric 05/2011 - 07/2010
2	Protein Isoforms (Isoforms)IBA 01/2011 - 05/2010
2	LeptinIBA 01/2011 - 05/2006
2	OligonucleotidesIBA 06/2010 - 05/2009

Therapy/Procedure

9	Therapeutics 10/2021 - 09/2006
4	Precision Medicine 01/2021 - 01/2017
4	Salpingo-oophorectomy 02/2020 - 10/2010
2	Extracorporeal Membrane Oxygenation 08/2022 - 01/2022
2	Prophylactic Mastectomy 01/2022 - 01/2019
2	Transplantation 09/2017 - 02/2017