| # | Title | Journal | Year | Citations |
|---|
| 1 | The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data | Brain Imaging and Behavior | 2014 | 696 |
| 2 | Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a | Science | 1993 | 384 |
| 3 | A novel complex locus UGT1 encodes human bilirubin, phenol, and other UDP-glucuronosyltransferase isozymes with identical carboxyl termini | Journal of Biological Chemistry | 1992 | 323 |
| 4 | Novel anti-inflammatory peptides from the region of highest similarity between uteroglobin and lipocortin I | Nature | 1988 | 239 |
| 5 | A two-dimensional NMR study of the antimicrobial peptide magainin 2 | FEBS Letters | 1988 | 203 |
| 6 | Phospholipase A2 enzymes: Regulation and physiological role | Biochemical Pharmacology | 1994 | 201 |
| 7 | Antimicrobial properties of peptides fromXenopusgranular gland secretions | FEBS Letters | 1988 | 193 |
| 8 | Group C Niemann‐Pick disease: faulty regulation of low‐density lipoprotein uptake and cholesterol storage in cultured fibroblasts | FASEB Journal | 1987 | 192 |
| 9 | Uteroglobin inhibits phospholipase A2 activity | Life Sciences | 1986 | 186 |
| 10 | Genome-wide association study meta-analysis of European and Asian-ancestry samples identifies three novel loci associated with bipolar disorder | Molecular Psychiatry | 2013 | 180 |
| 11 | Nephropathic cystinosis: late complications of a multisystemic disease | Pediatric Nephrology | 2008 | 170 |
| 12 | Nephropathic cystinosis: an international consensus document | Nephrology Dialysis Transplantation | 2014 | 164 |
| 13 | The genetics of bipolar disorder | Molecular Psychiatry | 2020 | 161 |
| 14 | Rare variants in neuronal excitability genes influence risk for bipolar disorder | Proceedings of the National Academy of Sciences of the United States of America | 2015 | 152 |
| 15 | Rapid stimulation of diacylglycerol production in Xenopus oocytes by microinjection of H-ras p21 | Science | 1987 | 140 |
| 16 | Identification of a genetic alteration in the code for bilirubin UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar type I patient. | Journal of Clinical Investigation | 1992 | 137 |
| 17 | Molecular genetic overlap in bipolar disorder, schizophrenia, and major depressive disorder | World Journal of Biological Psychiatry | 2014 | 120 |
| 18 | Isolation of the gene for murine glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1A | Journal of Biological Chemistry | 1993 | 116 |
| 19 | Tissue-specific expression of the gene coding for human Clara cell 10-kD protein, a phospholipase A2-inhibitory protein. | Journal of Clinical Investigation | 1993 | 114 |
| 20 | Zidovudine-induced mitochondrial myopathy is associated with muscle carnitine deficiency and lipid storage | Annals of Neurology | 1994 | 105 |
| 21 | Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a. | Journal of Clinical Investigation | 1994 | 104 |
| 22 | Menkes disease | Advances in Pediatrics | 1994 | 103 |
| 23 | Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c. | Journal of Clinical Investigation | 1995 | 102 |
| 24 | Plasma and cerebrospinal fluid neurochemical pattern in Menkes disease | Annals of Neurology | 1993 | 101 |
| 25 | RNA-sequencing of the brain transcriptome implicates dysregulation of neuroplasticity, circadian rhythms and GTPase binding in bipolar disorder | Molecular Psychiatry | 2014 | 100 |
| 26 | Is rotavirus a population of reassortants? | Trends in Microbiology | 1995 | 95 |
| 27 | Two human liver cDNAs encode UDP-glucuronosyltransferases with 2 log differences in activity toward parallel substrates including hyodeoxycholic acid and certain estrogen derivatives | Biochemistry | 1992 | 94 |
| 28 | Population studies on Southwestern Indian tribes V. Tooth morphology as an indicator of biological distance | American Journal of Physical Anthropology | 1972 | 92 |
| 29 | Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus | American Journal of Human Genetics | 1995 | 91 |
| 30 | A DEVELOPMENTAL BASIS FOR DIFFERENTIAL TOOTH REDUCTION DURING HOMINID EVOLUTION | Evolution; International Journal of Organic Evolution | 1971 | 89 |
| 31 | Transcription, processing and nuclear transport of a B1 Alu RNA species complementary to an intron of the murine α-fetoprotein gene | Nature | 1985 | 87 |
| 32 | Inhibition of phagocyte chemotaxis by uteroglobin, an inhibitor of blastocyst rejection | Biochemical Pharmacology | 1988 | 84 |
| 33 | The size and morphology of the Nasioi dentition | American Journal of Physical Anthropology | 1968 | 82 |
| 34 | Heredity and morphological variation in early and late developing human teeth of the same morphological class | Archives of Oral Biology | 1972 | 74 |
| 35 | Replication and meta-analysis of TMEM132D gene variants in panic disorder | Translational Psychiatry | 2012 | 74 |
| 36 | Structure-Function Analysis of Human Glucose-6-phosphatase, the Enzyme Deficient in Glycogen Storage Disease Type 1a | Journal of Biological Chemistry | 1995 | 73 |
| 37 | Ascorbic acid accumulation and transport in human fibroblasts | Biochemical Journal | 1993 | 71 |
| 38 | A Network-Based Approach to Prioritize Results from Genome-Wide Association Studies | PLoS ONE | 2011 | 64 |
| 39 | Pharmacogenomics and Personalized Medicine in Neuropsychiatry | Neuron | 2012 | 64 |
| 40 | Molecular mechanisms of an inborn error of methionine pathway. Methionine adenosyltransferase deficiency. | Journal of Clinical Investigation | 1995 | 64 |
| 41 | Electroretinographic Findings in the Mucopolysaccharidoses | Ophthalmology | 1986 | 63 |
| 42 | Indian childhood cirrhosis in an American child | Gastroenterology | 1992 | 62 |
| 43 | Cloning and expression of murine S-adenosylmethionine synthetase | Journal of Biological Chemistry | 1993 | 62 |
| 44 | Genome-Wide Association of Bipolar Disorder Suggests an Enrichment of Replicable Associations in Regions near Genes | PLoS Genetics | 2011 | 59 |
| 45 | Clinical features and molecular characteristics of alpha 1-antitrypsin deficiency | Annals of Allergy | 1994 | 56 |
| 46 | Human pregnancy-specific β1-glycoprotein: A new member of the carcinoembryonic antigen gene family | Biochemical and Biophysical Research Communications | 1988 | 53 |
| 47 | Inhibition of pancreatic phospholipase A2 activity by uteroglobin and antiflammin peptides: Possible mechanism of action | Life Sciences | 1991 | 52 |
| 48 | Cognitive and behavioral profile of the oculocerebrorenal syndrome of Lowe | American Journal of Medical Genetics Part A | 1993 | 52 |
| 49 | Medullary nephrocalcinosis in nephropathic cystinosis | Pediatric Nephrology | 1995 | 52 |
| 50 | Psychiatric aspects of Behcet's syndrome | Journal of Psychosomatic Research | 1970 | 49 |
