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exaly
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Department of Genetics
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top-articles
Department of Genetics
16
(top 5%)
papers
1.1K
(top 2%)
citations
8
(top 5%)
h
-index
14
(top 5%)
g
-index
17
all documents
1.1K
doc citations
601
citing journals
Top Articles
#
Title
Journal
Year
Citations
1
Candidate-gene approaches for studying complex genetic traits: practical considerations
Nature Reviews Genetics
2002
886
2
Deficiency of the Cytoskeletal Protein SPECC1L Leads to Oblique Facial Clefting
American Journal of Human Genetics
2011
70
3
Expanding the Phenotype Associated with NAA10‐Related N‐Terminal Acetylation Deficiency
Human Mutation
2016
70
4
Novel mutations of theP gene in type II oculocutaneous albinism (OCA2)
Human Mutation
1997
37
5
Human Muscle Acetylcholine Receptor Alpha-subunit Gene (CHRNA1) Association with Autoimmune Myasthenia Gravis in Black, Mixed-Ancestry and Caucasian Subjects
Journal of Autoimmunity
1996
26
6
Factors influencing women's acceptance of prenatal screening tests
Prenatal Diagnosis
2008
14
7
Genotype–phenotype characterization in 13 individuals with chromosome Xp11.22 duplications
American Journal of Medical Genetics, Part A
2016
11
8
Genetic Counselor or Patient-Who Am I Today?
Journal of Genetic Counseling
2002
9
9
When Grief Roars
Journal of Genetic Counseling
2002
5
10
The SNP Endgame: A Multidisciplinary Approach*
American Journal of Human Genetics
2005
4
11
Novel mutations of the P gene in type II oculocutaneous albinism (OCA2)
Human Mutation
1997
3
12
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
American Journal of Human Genetics
2023
3
13
Recurrent adjacent-2 segregation of a familial t(14;21)(q11.2;q11.2): Phenotypic comparison of two brothers and a paternal aunt inheriting the der(14)
American Journal of Medical Genetics, Part A
2005
1
14
Imaging the Whole Genome in Diagnosing Neurologic Disorders
JAMA Neurology
2019
1
15
Book Review : A Clinical Guide to Inherited Metabolic Diseases (1st ed.). By J. T. R. Clarke. Cambridge University Press, 1996, 280 pp., $29.95 (paperback)
Journal of Genetic Counseling
1999
0
16
LETTER
Twin Research and Human Genetics
2000
0
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