Ada Hamosh Selected Research

MME

1/2022	Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking.
1/2020	Genomic Data Sharing for Novel Mendelian Disease Gene Discovery: The Matchmaker Exchange.
10/2017	Matchmaker Exchange.
10/2017	"Matching" consent to purpose: The example of the Matchmaker Exchange.
10/2015	The Matchmaker Exchange: a platform for rare disease gene discovery.

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Ada Hamosh Research Topics

Disease

6	Rare Diseases (Rare Disease) 01/2020 - 10/2015
2	Inborn Errors Metabolism (Inborn Errors of Metabolism) 07/2021 - 01/2021
2	Intellectual Disability (Idiocy) 01/2021 - 09/2015
2	Muscle Hypotonia (Hypotonia) 01/2016 - 09/2015
2	Seizures (Absence Seizure) 01/2016 - 09/2015
1	Undiagnosed Diseases 01/2022
1	Brain Diseases (Brain Disorder) 07/2021
1	Attention Deficit Disorder with Hyperactivity (Attention Deficit Hyperactivity Disorder) 01/2021
1	Autistic Disorder (Autism) 01/2021
1	Parkinsonian Disorders (Parkinsonism) 12/2020
1	Dystonia (Limb Dystonia) 12/2020
1	Dysphonia (Spastic Dysphonia) 12/2020
1	Acute Febrile Encephalopathy 01/2019
1	Critical Illness (Critically Ill) 10/2016
1	Mitochondrial Diseases (Mitochondrial Disease) 10/2016
1	Paraplegia (Spastic Paraplegia) 10/2016
1	Neurodevelopmental Disorders 03/2016
1	Absent corpus callosum cataract immunodeficiency 03/2016
1	Hypoglycemia (Reactive Hypoglycemia) 01/2016
1	Acidosis 01/2016
1	Sensorineural Hearing Loss 09/2015
1	Vision Disorders (Hemeralopia) 09/2015
1	Microcephaly 09/2015
1	Adult-onset citrullinemia type 2 01/2009
1	Hyperammonemia 05/2007
1	Inborn Urea Cycle Disorders 05/2007
1	Congenital Disorders of Glycosylation 08/2006
1	Intracranial Hemorrhages (Intracranial Hemorrhage) 08/2006
1	Hemorrhage 08/2006
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 08/2006
1	Autosomal Dominant Dyskeratosis Congenita 11/2005
1	Body Weight (Weight, Body) 03/2004
1	Cystic Fibrosis (Mucoviscidosis) 03/2004

Drug/Important Bio-Agent (IBA)

5	MMEIBA 01/2022 - 10/2015
4	Proteins (Proteins, Gene)FDA Link 01/2022 - 09/2015
2	AcidsIBA 07/2021 - 01/2021
1	Amino Acids FDA Link 01/2021
1	purineIBA 01/2021
1	pyrimidineIBA 01/2021
1	MetalsIBA 01/2021
1	CarbohydratesIBA 01/2021
1	Transcription Factors (Transcription Factor)IBA 01/2021
1	Fatty Acids (Saturated Fatty Acids)IBA 01/2021
1	Nuclear Pore Complex Proteins (Nucleoporins)IBA 01/2019
1	KinesinsIBA 10/2016
1	GlycogenIBA 03/2016
1	3-Hydroxy-3-Methylglutaryl-CoA Lyase DeficiencyIBA 01/2016
1	Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA 01/2016
1	citrinIBA 01/2009
1	ammonul FDA Link 05/2007
1	Sodium Benzoate FDA Link 05/2007
1	Benzoates (Benzoate)IBA 05/2007
1	Arginine (L-Arginine)FDA Link 05/2007
1	phenylacetic acid (phenylacetate)FDA Link 05/2007
1	Ammonium CompoundsIBA 05/2007
1	Glycoproteins (Glycoprotein)IBA 08/2006
1	Transferrin (beta 2 Transferrin)IBA 08/2006
1	Blood Coagulation Factors (Coagulation Factor)IBA 08/2006
1	telomerase RNA (bTR)IBA 11/2005
1	Telomerase (Telomerase Reverse Transcriptase)IBA 11/2005
1	Dietary Fats (Dietary Fat)IBA 03/2004
1	Pepsin A (Pepsin)IBA 03/2004
1	Lipase (Acid Lipase)FDA Link 03/2004

Therapy/Procedure

2	Precision Medicine 01/2019 - 05/2017
1	Deep Brain Stimulation 12/2020
1	Renal Dialysis (Hemodialysis) 05/2007
1	Therapeutics 05/2007
1	Aftercare (After-Treatment) 05/2007