Darius J. Adams - Concepedia

Author

Darius J. Adams

Also Known As

Carl Mann, D. Adams, D. J. Adams, D.J. Adams, DARIUS ADAMS, Darius Adams, Darius J Adams, Darius J. Adams, Divya Ramamoorthy, Ophir Shalem

Publications

2.9K

Citations

H-Index

Concepts

All Affiliations

Albany Medical Center Hospital Atlantic Health System Columbia University Irving Medical Center Goryeb Children's Hospital Children's Hospital of Philadelphia

About

Darius J. Adams is an author at Albany Medical Center Hospital specializing in medicine, pediatrics, and neuropathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	10	10	1.1K
2	Public Health	3	3	270
3	Epidemiology	2	2	296
4	Clinical Nutrition	1	1	36
5	Genetic Medicine	1	1	54

Darius J. Adams

Publications

2.3K

Citations

H-Index

Page 1

	Year	Citations
TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A Anna‐Leigh Brown, Oscar G. Wilkins, Matthew J. Keuss, Nature	2022	471
An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phenotype Correlation Meena Upadhyaya, Susan Huson, D. M. Davies, The American Journal of Human Genetics Mendelian DisorderGenetic DisorderGenetic EpidemiologyNf1 GenePathology	2006	360
<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects Konrad Platzer, Hongjie Yuan, Hannah M. Schutz, Journal of Medical Genetics	2017	249
Newborn Screening for Krabbe Disease: the New York State Model Patricia K. Duffner, Michele Caggana, Joseph J. Orsini, Pediatric Neurology Early DiagnosisNeonatologyNewborn ScreeningDiagnosisPediatrics	2009	187
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation Eric J. R. Jansen, Sharita Timal, Margret Ryan, Nature Communications	2016	146
Newborn screening for X-linked adrenoleukodystrophy in New York State: Diagnostic protocol, surveillance protocol and treatment guidelines Beth Vogel, Sue Bradley, Darius J. Adams, Molecular Genetics and Metabolism Early DiagnosisNew York StateNeonatologyDiagnostic ProtocolPediatrics	2015	120
Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy Lee-Jun Wong, Nicola Brunetti‐Pierri, Qing Zhang, Hepatology	2007	115
Newborn screening for Krabbe disease in New York State: the first eight years’ experience Joseph J. Orsini, Denise M. Kay, Carlos A. Saavedra‐Matiz, Genetics in Medicine Early DiagnosisNew York StateNewborn ScreeningNeonatologyClinical Epidemiology	2016	109
Maternal systemic primary carnitine deficiency uncovered by newborn screening: Clinical, biochemical, and molecular aspects Ayman W. El‐Hattab, Fangyuan Li, Joseph Shen, Genetics in Medicine NutritionNewborn ScreeningPediatricsMaternal HealthMolecular Aspects	2010	107
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis Ramita Dewan, Ruth Chia, Jinhui Ding, Neuron Amyotrophic Lateral SclerosisAlzheimer's DiseasePathologyDegenerative DiseaseFrontotemporal Dementia	2020	79

Page 1