Center for Human Genetics Research

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#	Title	Journal	Year	Citations
1	Pleiotropy in complex traits: challenges and strategies	Nature Reviews Genetics	2013	958
2	Proteins Encoded in Genomic Regions Associated with Immune-Mediated Disease Physically Interact and Suggest Underlying Biology	PLoS Genetics	2011	450
3	Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis	Nature Genetics	2009	344
4	Gilles de la Tourette syndrome	Nature Reviews Disease Primers	2017	257
5	Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing	Genetics in Medicine	2015	216
6	Reduced expression of the Kinesin-Associated Protein 3 ( KIFAP3 ) gene increases survival in sporadic amyotrophic lateral sclerosis	Proceedings of the National Academy of Sciences of the United States of America	2009	177
7	Emerging therapies and challenges in spinal muscular atrophy	Annals of Neurology	2017	157
8	White matter hyperintensity volume is increased in small vessel stroke subtypes	Neurology	2010	136
9	Dysregulation of miR-34a links neuronal development to genetic risk factors for bipolar disorder	Molecular Psychiatry	2015	132
10	Fine Mapping in 94 Inbred Mouse Strains Using a High-Density Haplotype Resource	Genetics	2010	95
11	Analysis commons, a team approach to discovery in a big-data environment for genetic epidemiology	Nature Genetics	2017	93
12	LACK OF ASSOCIATION BETWEEN SLITRK1 var321 AND TOURETTE SYNDROME IN A LARGE FAMILY-BASED SAMPLE	Neurology	2008	88
13	When is Pharmacogenetic Testing for Antidepressant Response Ready for the Clinic? A Cost-effectiveness Analysis Based on Data from the STAR*D Study	Neuropsychopharmacology	2009	81
14	Annotation of loci from genome-wide association studies using tissue-specific quantitative interaction proteomics	Nature Methods	2014	70
15	Prosaposin is a regulator of progranulin levels and oligomerization	Nature Communications	2016	68
16	Family‐based genetic association study of DLGAP3 in Tourette Syndrome	American Journal of Medical Genetics Part B: Neuropsychiatric Genetics	2011	58
17	SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR	Molecular Genetics & Genomic Medicine	2015	56
18	Associations between social relationship measures, serum brain‐derived neurotrophic factor, and risk of stroke and dementia	Alzheimer's and Dementia: Translational Research and Clinical Interventions	2017	51
19	Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum	Pediatrics	2017	43
20	Integration of Sequence Data from a Consanguineous Family with Genetic Data from an Outbred Population Identifies PLB1 as a Candidate Rheumatoid Arthritis Risk Gene	PLoS ONE	2014	34
21	A multi-ancestry genome-wide study incorporating gene–smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure	Human Molecular Genetics	2019	31
22	Dissociable Genetic Contributions to Error Processing: A Multimodal Neuroimaging Study	PLoS ONE	2014	25
23	Pharmacogenetic Studies of Antidepressant Response: How Far from the Clinic?	Psychiatric Clinics of North America	2007	24
24	The Role of Anxiety Sensitivity and Lack of Emotional Approach Coping in Depressive Symptom Severity Among a Non‐Clinical Sample of Uncued Panickers	Cognitive Behaviour Therapy	2006	23
25	Two Variants of the C-Reactive Protein Gene Are Associated with Risk of Pre-Eclampsia in an American Indian Population	PLoS ONE	2013	22
26	Application of genome-wide SNP data for uncovering pairwise relationships and quantitative trait loci	Genetica	2009	21
27	COMT and MAO-A Polymorphisms and Obsessive-Compulsive Disorder: A Family-Based Association Study	PLoS ONE	2015	18
28	An Empirical Comparison of Joint and Stratified Frameworks for Studying G × E Interactions: Systolic Blood Pressure and Smoking in the CHARGE Gene‐Lifestyle Interactions Working Group	Genetic Epidemiology	2016	18
29	Parental Psychopathology and Tourette Syndrome/Chronic Tic Disorder in Offspring: A Nationwide Case-Control Study	Journal of the American Academy of Child and Adolescent Psychiatry	2017	15
30	Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR	Neuromuscular Disorders	2017	15
31	Efficient gene–environment interaction tests for large biobank‐scale sequencing studies	Genetic Epidemiology	2020	15
32	Noncoding RNAs connect genetic risk factors to the neurodevelopmental basis of bipolar disorder	Molecular Psychiatry	2015	5
33	Pleiotropy in complex traits: challenges and strategies		0	1
34	IBC CARe Microarray Allelic Population Prevalences in an American Indian Population	PLoS ONE	2013	0
35	PRS Associations With Subcortical Volumes, Cortical Thickness and Surface Area in ENIGMA-OCD	Biological Psychiatry	2023	0

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