Monogenic Disorders Publications

Publications in Monogenic Disorders

Explore the most influential research papers and scholarly works that have shaped Monogenic Disorders. Use the concept filter below to focus on a specific sub-area of research.

Monogenic Disorders

Publications

213.1K

Citations

Showing yearly statistics from 2000-2026.

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	Year	Citations
Identification of the Cystic Fibrosis Gene: Genetic Analysis Bat-Sheva Kerem, Johanna M. Rommens, Janet A. Buchanan, Science Cystic Fibrosis GeneMendelian DisorderPhenylalanine ResidueGenetic DisorderMedicine	1989	4.1K
Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations Amit V. Khera, Mark Chaffin, Krishna G. Aragam, Nature Genetics Genome-wide Association StudyMedicineGeneticsPolygenic RiskGenetic Epidemiology	2018	2.9K
A General Model for the Genetic Analysis of Pedigree Data Robert C. Elston, Jason A. Stewart Human Heredity Random MatingGenetic TestingGeneticsLinkage AnalysisPreimplantation Genetic Testing	1971	1.6K
The DNA sequence of human chromosome 21 Masahira Hattori, Asao Fujiyama, Todd D. Taylor, Nature ChromatinDevelopmental BiologyCytogeneticsCauses Down SyndromeGenetics	2000	1.5K
ClinGen — The Clinical Genome Resource Heidi L. Rehm, Jonathan S. Berg, Lisa Brooks, New England Journal of Medicine Clinical Genome ResourceGenetic TestingFamily MembersCardiometabolic RiskGenetics	2015	1.5K
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus Anthony P. Monaco, Corlee J. Bertelson, Sabina Liechti‐Gallati, Genomics Mendelian DisorderGenetic DisorderGeneticsClinical GeneticsPathology	1988	1.2K
Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus David Viskochil, Arthur M. Buchberg, Gangfeng Xu, Cell Genome InstabilityMendelian DisorderGenetic DisorderGeneticsMolecular Genetics	1990	1.1K
Human Genetics. Problems and Approaches. Annals of Internal Medicine GeneticsSpontaneous MutationGenetic SimulationGenetic FoundationGermline Genetics	1980	994
Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes. Annals of Internal Medicine Autosomal DominantHuman Genetic TraitsGeneticsMolecular GeneticsGenetic Foundation	1967	975
Common genetic variants on 5p14.1 associate with autism spectrum disorders Kai Wang, Haitao Zhang, Deqiong Ma, Nature Neurodevelopmental DisordersSyndromic AutismGenetic DisorderGeneticsPsychiatric Genetics	2009	968
From Genotypes to Genes: Doubling the Sample Size Peter Sasieni Biometrics Genetic TestingUnknown AlleleGeneticsGenotype DataGenetic Analysis	1997	902
Genetic and clinical aspects of Charcot‐Marie‐Tooth's disease H. Skre Clinical Genetics Recessive CmtGeneticsGenetic EpidemiologyPathologyDisease Gene Identification	1974	897

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