| 1 | A research agenda to support the development and implementation of genomics-based clinical informatics tools and resources | 3.5 | 9 | Citations (PDF) |
| 2 | Opportunities, resources, and techniques for implementing genomics in clinical care | 62.3 | 71 | Citations (PDF) |
| 3 | Prioritizing diversity in human genomics research | 47.0 | 366 | Citations (PDF) |
| 4 | Characterizing genetic variants for clinical action | 3.5 | 56 | Citations (PDF) |
| 5 | Implementing genomic medicine in the clinic: the future is here | 4.2 | 517 | Citations (PDF) |
| 6 | Effort required to finish shotgun-generated genome sequences differs significantly among vertebrates | 3.3 | 10 | Citations (PDF) |
| 7 | A Rare Myelin Protein Zero (MPZ) Variant Alters Enhancer Activity In Vitro and In Vivo | 2.3 | 18 | Citations (PDF) |
| 8 | Evolutionary History Reconstruction for Mammalian Complex Gene Clusters | 1.5 | 7 | Citations (PDF) |
| 9 | The Role of Aminoacyl-tRNA Synthetases in Genetic Diseases | 6.7 | 278 | Citations (PDF) |
| 10 | Lack of pendrin HCO3− transport elevates vestibular endolymphatic [Ca2+] by inhibition of acid-sensitive TRPV5 and TRPV6 channels | 3.3 | 124 | Citations (PDF) |
| 11 | Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome | 4.6 | 187 | Citations (PDF) |
| 12 | Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project | 37.9 | 4,877 | Citations (PDF) |
| 13 | Sequencing and Analyzing the t(1;7) Reciprocal Translocation Breakpoints Associated with a Case of Childhood-onset Schizophrenia/Autistic Disorder | 2.1 | 6 | Citations (PDF) |
| 14 | Macrophage invasion contributes to degeneration of stria vascularis in Pendred syndrome mouse model | 7.1 | 63 | Citations (PDF) |
| 15 | Functional Analyses of Glycyl-tRNA Synthetase Mutations Suggest a Key Role for tRNA-Charging Enzymes in Peripheral Axons | 3.7 | 116 | Citations (PDF) |
| 16 | An initial strategy for the systematic identification of functional elements in the human genome by low-redundancy comparative sequencing | 7.5 | 108 | Citations (PDF) |
| 17 | Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutationsBrain, 2005, 128, 2304-2314 | 8.4 | 128 | Citations (PDF) |
| 18 | An intermediate grade of finished genomic sequence suitable for comparative analyses | 4.6 | 72 | Citations (PDF) |
| 19 | Large-scale sequencing of the CD33-related Siglec gene cluster in five mammalian species reveals rapid evolution by multiple mechanisms | 7.5 | 162 | Citations (PDF) |
| 20 | Human chromosome 7 circa 2004: a model for structural and functional studies of the human genome | 2.9 | 16 | Citations (PDF) |
| 21 | Localization and Functional Studies of Pendrin in the Mouse Inner Ear Provide Insight About the Etiology of Deafness in Pendred Syndrome | 2.0 | 145 | Citations (PDF) |
| 22 | The DNA sequence of human chromosome 7 | 37.9 | 247 | Citations (PDF) |
| 23 | Pericentromeric Duplications in the Laboratory Mouse | 4.6 | 37 | Citations (PDF) |
| 24 | Identification and Characterization of Multi-Species Conserved Sequences | 4.6 | 318 | Citations (PDF) |
| 25 | Parallel Construction of Orthologous Sequence-Ready Clone Contig Maps in Multiple Species | 4.6 | 63 | Citations (PDF) |
| 26 | Systematic sequencing of cDNA clones using the transposon Tn5 | 15.5 | 56 | Citations (PDF) |
| 27 | Expression ofPDS/Pds, the Pendred Syndrome Gene, in Endometrium | 4.1 | 52 | Citations (PDF) |
| 28 | Generation and Comparative Analysis of ∼3.3 Mb of Mouse Genomic Sequence Orthologous to the Region of Human Chromosome 7q11.23 Implicated in Williams Syndrome | 4.6 | 75 | Citations (PDF) |
| 29 | Initial sequencing and comparative analysis of the mouse genome | 37.9 | 6,666 | Citations (PDF) |
| 30 | Meiotic arrest and aneuploidy in MLH3-deficient mice | 25.2 | 357 | Citations (PDF) |
| 31 | Comparative physical mapping of targeted regions of the rat genome | 2.3 | 13 | Citations (PDF) |
| 32 | Strategies for the systematic sequencing of complex genomes | 47.0 | 161 | Citations (PDF) |
| 33 | Childhood-onset schizophrenia/autistic disorder and t(1;7) reciprocal translocation: Identification of a BAC contig spanning the translocation breakpoint at 7q21 | 0.5 | 67 | Citations (PDF) |
| 34 | Pendrin, the Protein Encoded by the Pendred Syndrome Gene (PDS), Is an Apical Porter of Iodide in the Thyroid and Is Regulated by Thyroglobulin in FRTL-5 Cells | 2.5 | 377 | Citations (PDF) |
| 35 | High Throughput Fingerprint Analysis of Large-Insert Clones | 4.6 | 406 | Citations (PDF) |
| 36 | A Physical Map of Human Chromosome 7: An Integrated YAC Contig Map with Average STS Spacing of 79 kb | 4.6 | 94 | Citations (PDF) |
| 37 | Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS) | 25.2 | 1,135 | Citations (PDF) |
| 38 | Letter to the Editor: The effects of hyperlipidaemia, hyperbilirubinaemia and haemolysis on tests performed by the Olympus AU 5000 multiple analyser | 0.0 | 0 | Citations (PDF) |
| 39 | Examination of isoelectric focusing and electrophoretic methods for resolving acidic proteins | 2.6 | 1 | Citations (PDF) |
