| # | Title | Journal | Year | Citations |
|---|
| 1 | Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS) | Nature Genetics | 1997 | 1,081 |
| 2 | The Pendred syndrome gene encodes a chloride-iodide transport protein | Nature Genetics | 1999 | 524 |
| 3 | Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V | American Journal of Human Genetics | 2003 | 505 |
| 4 | Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin | Proceedings of the National Academy of Sciences of the United States of America | 2004 | 345 |
| 5 | Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome | Nature Genetics | 2002 | 327 |
| 6 | Verification of the fetal valproate syndrome phenotype | American Journal of Medical Genetics Part A | 1988 | 277 |
| 7 | Identification of the gene that, when mutated, causes the human obesity syndrome BBS4 | Nature Genetics | 2001 | 254 |
| 8 | Comparative Genomic Analysis Identifies an ADP-Ribosylation Factor–like Gene as the Cause of Bardet-Biedl Syndrome (BBS3) | American Journal of Human Genetics | 2004 | 220 |
| 9 | Phenylketonuria in adulthood: A collaborative study | Journal of Inherited Metabolic Disease | 2002 | 177 |
| 10 | Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification | Nature Genetics | 1996 | 159 |
| 11 | Intrinsic Protein-Protein Interaction-mediated and Chaperonin-assisted Sequential Assembly of Stable Bardet-Biedl Syndrome Protein Complex, the BBSome | Journal of Biological Chemistry | 2012 | 142 |
| 12 | Familial Mediterranean fever in Arabs | Lancet, The | 2006 | 127 |
| 13 | Evaluation of Complex Inheritance Involving the Most Common Bardet-Biedl Syndrome Locus (BBS1) | American Journal of Human Genetics | 2003 | 117 |
| 14 | Primary Ciliary Dyskinesia Caused by Homozygous Mutation in DNAL1, Encoding Dynein Light Chain 1 | American Journal of Human Genetics | 2011 | 116 |
| 15 | A mouse model of osteochondromagenesis from clonal inactivation of Ext1 in chondrocytes | Proceedings of the National Academy of Sciences of the United States of America | 2010 | 109 |
| 16 | Mutation in TDRD9 causes non-obstructive azoospermia in infertile men | Journal of Medical Genetics | 2017 | 107 |
| 17 | Fetal hydantoin effects | Teratology | 1986 | 106 |
| 18 | Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I | Human Molecular Genetics | 1998 | 105 |
| 19 | Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase | European Journal of Human Genetics | 2010 | 100 |
| 20 | Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci | American Journal of Medical Genetics Part A | 1995 | 96 |
| 21 | Establishing a connection between cilia and Bardet–Biedl Syndrome | Trends in Molecular Medicine | 2004 | 89 |
| 22 | A Bedouin Kindred with Infantile Nephronophthisis Demonstrates Linkage to Chromosome 9 by Homozygosity Mapping | American Journal of Human Genetics | 1998 | 83 |
| 23 | The CEPH consortium primary linkage map of human chromosome 10 | Genomics | 1990 | 74 |
| 24 | Homozygosity and Linkage-Disequilibrium Mapping of the Syndrome of Congenital Hypoparathyroidism, Growth and Mental Retardation, and Dysmorphism to a 1-cM Interval on Chromosome 1q42-43 | American Journal of Human Genetics | 1998 | 70 |
| 25 | Clinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in theBBS4Gene | American Journal of Medical Genetics, Part A | 2005 | 66 |
| 26 | Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome | American Journal of Medical Genetics, Part A | 2018 | 57 |
| 27 | An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds | American Journal of Human Genetics | 1996 | 57 |
| 28 | Desmosterolosis—phenotypic and molecular characterization of a third case and review of the literature | American Journal of Medical Genetics, Part A | 2011 | 52 |
| 29 | Impaired Function is a Common Feature of Neuropathy-Associated Glycyl-tRNA Synthetase Mutations | Human Mutation | 2014 | 51 |
| 30 | High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH | Molecular Genetics and Metabolism | 2009 | 48 |
| 31 | Congenital myopathy is caused by mutation of HACD1 | Human Molecular Genetics | 2013 | 48 |
| 32 | WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features | American Journal of Human Genetics | 2017 | 45 |
| 33 | Deficient Muscle Carnitine Transport in Primary Carnitine Deficiency | Pediatric Research | 1997 | 38 |
| 34 | Consanguinity: implications for practice, research, and policy | Lancet, The | 2006 | 35 |
| 35 | Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12 | Human Genetics | 2011 | 35 |
| 36 | Deletion of chromosome arm 17p dna sequences in pediatric high-grade and juvenile pilocytic astrocytomas | Genes Chromosomes and Cancer | 1995 | 34 |
| 37 | Kabuki syndrome – Report of six cases and review of the literature with emphasis on ocular features | Ophthalmic Genetics | 2000 | 31 |
| 38 | Two patients with duplication of 17p11.2: The reciprocal of the Smith-Magenis syndrome deletion? | | 1996 | 28 |
| 39 | Autozygosity mapping of Bardet–Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10 | European Journal of Human Genetics | 2007 | 28 |
| 40 | Genotype–phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing | Pediatric Research | 2020 | 28 |
| 41 | Autism Linked to Increased Oncogene Mutations but Decreased Cancer Rate | PLoS ONE | 2016 | 25 |
| 42 | A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis | Human Genetics | 2020 | 24 |
| 43 | Use of Isolated Populations in the Study of a Human Obesity Syndrome, the Bardet-Biedl Syndrome | Pediatric Research | 2004 | 23 |
| 44 | Behavioral management of a long-term survivor with tetrasomy 18p | American Journal of Medical Genetics, Part A | 2006 | 23 |
| 45 | Inborn errors of fatty acid oxidation in man | Clinical Biochemistry | 1991 | 22 |
| 46 | A HomozygousNme7Mutation Is Associated withSitus Inversus Totalis | Human Mutation | 2016 | 22 |
| 47 | Functional correction of short-chain acyl-CoA dehydrogenase deficiency in transgenic mice: implications for gene therapy of human mitochondrial enzyme deficiencies | Human Molecular Genetics | 1997 | 20 |
| 48 | Dominantly inherited dilated cardiomyopathy | American Journal of Medical Genetics Part A | 1987 | 18 |
| 49 | Clinical Management Issues in Males with Sex Chromosomal Mosaicism and Discordant Phenotype/Sex Chromosomal Patterns | Clinical Pediatrics | 1991 | 16 |
| 50 | Determinants of Bone Mineral Density in Postmenopausal White Iowans | Journals of Gerontology - Series A Biological Sciences and Medical Sciences | 1997 | 15 |
