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Top Articles

#TitleJournalYearCitations
1Candidate-gene approaches for studying complex genetic traits: practical considerationsNature Reviews Genetics2002886
2Deficiency of the Cytoskeletal Protein SPECC1L Leads to Oblique Facial CleftingAmerican Journal of Human Genetics201170
3Expanding the Phenotype Associated with NAA10‐Related N‐Terminal Acetylation DeficiencyHuman Mutation201670
4Novel mutations of theP gene in type II oculocutaneous albinism (OCA2)Human Mutation199737
5Human Muscle Acetylcholine Receptor Alpha-subunit Gene (CHRNA1) Association with Autoimmune Myasthenia Gravis in Black, Mixed-Ancestry and Caucasian SubjectsJournal of Autoimmunity199626
6Factors influencing women's acceptance of prenatal screening testsPrenatal Diagnosis200814
7Genotype–phenotype characterization in 13 individuals with chromosome Xp11.22 duplicationsAmerican Journal of Medical Genetics, Part A201611
8Genetic Counselor or Patient-Who Am I Today?Journal of Genetic Counseling20029
9When Grief RoarsJournal of Genetic Counseling20025
10The SNP Endgame: A Multidisciplinary Approach*American Journal of Human Genetics20054
11Novel mutations of the P gene in type II oculocutaneous albinism (OCA2)Human Mutation19973
12The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorderAmerican Journal of Human Genetics20233
13Recurrent 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 A20051
14Imaging the Whole Genome in Diagnosing Neurologic DisordersJAMA Neurology20191
15Book 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 Counseling19990
16LETTERTwin Research and Human Genetics20000