PubRank

Richard P Lifton

Author PubWeight™ 288.78‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A 2009 15.09
2 De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 2012 13.61
3 High bone density due to a mutation in LDL-receptor-related protein 5. N Engl J Med 2002 11.28
4 Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron 2011 10.61
5 Sequence variants in SLITRK1 are associated with Tourette's syndrome. Science 2005 8.20
6 Nonvalidation of reported genetic risk factors for acute coronary syndrome in a large-scale replication study. JAMA 2007 7.12
7 Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma. Nat Genet 2012 7.00
8 Apolipoprotein C3 gene variants in nonalcoholic fatty liver disease. N Engl J Med 2010 6.45
9 Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature 2010 6.26
10 Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. Am J Hum Genet 2008 5.44
11 K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension. Science 2011 5.40
12 De novo mutations in histone-modifying genes in congenital heart disease. Nature 2013 5.15
13 LRP6 mutation in a family with early coronary disease and metabolic risk factors. Science 2007 4.27
14 Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. Nature 2012 4.26
15 WNK4 regulates the balance between renal NaCl reabsorption and K+ secretion. Nat Genet 2003 4.08
16 Wnk4 controls blood pressure and potassium homeostasis via regulation of mass and activity of the distal convoluted tubule. Nat Genet 2006 3.57
17 Molecular pathogenesis of inherited hypertension with hyperkalemia: the Na-Cl cotransporter is inhibited by wild-type but not mutant WNK4. Proc Natl Acad Sci U S A 2003 3.48
18 Genomic analysis of non-NF2 meningiomas reveals mutations in TRAF7, KLF4, AKT1, and SMO. Science 2013 3.45
19 Genome-wide association study identifies susceptibility loci for IgA nephropathy. Nat Genet 2011 3.15
20 The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. Am J Med Genet A 2012 3.12
21 L-histidine decarboxylase and Tourette's syndrome. N Engl J Med 2010 2.92
22 Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. Nat Genet 2013 2.91
23 Molecular physiology of the WNK kinases. Annu Rev Physiol 2008 2.58
24 A novel form of human mendelian hypertension featuring nonglucocorticoid-remediable aldosteronism. J Clin Endocrinol Metab 2008 2.48
25 Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. Proc Natl Acad Sci U S A 2009 2.41
26 Skint1, the prototype of a newly identified immunoglobulin superfamily gene cluster, positively selects epidermal gammadelta T cells. Nat Genet 2008 2.31
27 Angiotensin II signaling increases activity of the renal Na-Cl cotransporter through a WNK4-SPAK-dependent pathway. Proc Natl Acad Sci U S A 2009 2.30
28 Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10. Science 2010 2.21
29 Roles of the cation-chloride cotransporters in neurological disease. Nat Clin Pract Neurol 2008 2.19
30 Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism. Nat Genet 2013 2.09
31 Individual genomes on the horizon. N Engl J Med 2010 2.09
32 Evaluating potential for whole-genome studies in Kosrae, an isolated population in Micronesia. Nat Genet 2006 2.07
33 Landscape of somatic single-nucleotide and copy-number mutations in uterine serous carcinoma. Proc Natl Acad Sci U S A 2013 2.02
34 Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. PLoS Genet 2009 2.02
35 Mutations in SEC63 cause autosomal dominant polycystic liver disease. Nat Genet 2004 1.96
36 WNK3 kinase is a positive regulator of NKCC2 and NCC, renal cation-Cl- cotransporters required for normal blood pressure homeostasis. Proc Natl Acad Sci U S A 2005 1.96
37 A cluster of metabolic defects caused by mutation in a mitochondrial tRNA. Science 2004 1.95
38 Sites of regulated phosphorylation that control K-Cl cotransporter activity. Cell 2009 1.93
39 Susceptibility loci for intracranial aneurysm in European and Japanese populations. Nat Genet 2008 1.90
40 Recessive LAMC3 mutations cause malformations of occipital cortical development. Nat Genet 2011 1.89
41 Regulation of NKCC2 by a chloride-sensing mechanism involving the WNK3 and SPAK kinases. Proc Natl Acad Sci U S A 2008 1.88
42 Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome. Am J Hum Genet 2004 1.87
43 Genome-wide association study of intracranial aneurysm identifies three new risk loci. Nat Genet 2010 1.86
44 WNK1, a kinase mutated in inherited hypertension with hyperkalemia, localizes to diverse Cl- -transporting epithelia. Proc Natl Acad Sci U S A 2003 1.82
45 WNK3 modulates transport of Cl- in and out of cells: implications for control of cell volume and neuronal excitability. Proc Natl Acad Sci U S A 2005 1.76
46 Aberrant IgA1 glycosylation is inherited in familial and sporadic IgA nephropathy. J Am Soc Nephrol 2008 1.76
47 Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5. Proc Natl Acad Sci U S A 2012 1.74
48 ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. J Clin Invest 2013 1.74
49 Mineralocorticoid receptor phosphorylation regulates ligand binding and renal response to volume depletion and hyperkalemia. Cell Metab 2013 1.72
50 WNK4 regulates apical and basolateral Cl- flux in extrarenal epithelia. Proc Natl Acad Sci U S A 2004 1.71
51 Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning. Proc Natl Acad Sci U S A 2011 1.71
52 Geographic differences in genetic susceptibility to IgA nephropathy: GWAS replication study and geospatial risk analysis. PLoS Genet 2012 1.69
53 KANK deficiency leads to podocyte dysfunction and nephrotic syndrome. J Clin Invest 2015 1.69
54 Paracellular Cl- permeability is regulated by WNK4 kinase: insight into normal physiology and hypertension. Proc Natl Acad Sci U S A 2004 1.68
55 An SGK1 site in WNK4 regulates Na+ channel and K+ channel activity and has implications for aldosterone signaling and K+ homeostasis. Proc Natl Acad Sci U S A 2007 1.65
56 Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adults. J Am Soc Nephrol 2006 1.63
57 Copy-number disorders are a common cause of congenital kidney malformations. Am J Hum Genet 2012 1.63
58 KRIT1, a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein. Proc Natl Acad Sci U S A 2002 1.57
59 Kelch-like 3 and Cullin 3 regulate electrolyte homeostasis via ubiquitination and degradation of WNK4. Proc Natl Acad Sci U S A 2013 1.56
60 A translocation causing increased alpha-klotho level results in hypophosphatemic rickets and hyperparathyroidism. Proc Natl Acad Sci U S A 2008 1.56
61 The B1-subunit of the H(+) ATPase is required for maximal urinary acidification. Proc Natl Acad Sci U S A 2005 1.51
62 Whole-exome sequencing reveals somatic mutations in HRAS and KRAS, which cause nevus sebaceus. J Invest Dermatol 2012 1.50
63 Susceptibility loci for murine HIV-associated nephropathy encode trans-regulators of podocyte gene expression. J Clin Invest 2009 1.49
64 WNK4 regulates activity of the epithelial Na+ channel in vitro and in vivo. Proc Natl Acad Sci U S A 2007 1.46
65 Finding genetic contributions to sporadic disease: a recessive locus at 12q24 commonly contributes to patent ductus arteriosus. Proc Natl Acad Sci U S A 2002 1.42
66 Mapping a locus for susceptibility to HIV-1-associated nephropathy to mouse chromosome 3. Proc Natl Acad Sci U S A 2004 1.38
67 WNK3 bypasses the tonicity requirement for K-Cl cotransporter activation via a phosphatase-dependent pathway. Proc Natl Acad Sci U S A 2006 1.33
68 Regulation of the expression of the Cl-/anion exchanger pendrin in mouse kidney by acid-base status. Kidney Int 2002 1.32
69 Disruption of Contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome. Am J Hum Genet 2008 1.31
70 Regulation of diverse ion transport pathways by WNK4 kinase: a novel molecular switch. Trends Endocrinol Metab 2005 1.31
71 Comprehensive re-sequencing of adrenal aldosterone producing lesions reveal three somatic mutations near the KCNJ5 potassium channel selectivity filter. PLoS One 2012 1.30
72 Skint-1 is a highly specific, unique selecting component for epidermal T cells. Proc Natl Acad Sci U S A 2011 1.30
73 Identification of somatic mutations in parathyroid tumors using whole-exome sequencing. J Clin Endocrinol Metab 2012 1.26
74 KRIT1/cerebral cavernous malformation 1 protein localizes to vascular endothelium, astrocytes, and pyramidal cells of the adult human cerebral cortex. Neurosurgery 2004 1.24
75 Wild-type LRP6 inhibits, whereas atherosclerosis-linked LRP6R611C increases PDGF-dependent vascular smooth muscle cell proliferation. Proc Natl Acad Sci U S A 2011 1.24
76 WNK protein kinases modulate cellular Cl- flux by altering the phosphorylation state of the Na-K-Cl and K-Cl cotransporters. Physiology (Bethesda) 2006 1.22
77 Adenosine metabolism and murine strain-specific IL-4-induced inflammation, emphysema, and fibrosis. J Clin Invest 2006 1.22
78 Phosphoregulation of the Na-K-2Cl and K-Cl cotransporters by the WNK kinases. Biochim Biophys Acta 2010 1.22
79 Decreased ENaC expression compensates the increased NCC activity following inactivation of the kidney-specific isoform of WNK1 and prevents hypertension. Proc Natl Acad Sci U S A 2010 1.18
80 Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder. Proc Natl Acad Sci U S A 2005 1.17
81 Low density lipoprotein (LDL) receptor-related protein 6 (LRP6) regulates body fat and glucose homeostasis by modulating nutrient sensing pathways and mitochondrial energy expenditure. J Biol Chem 2012 1.13
82 On optimal pooling designs to identify rare variants through massive resequencing. Genet Epidemiol 2011 1.12
83 Molecular genetic analysis of two large kindreds with intracranial aneurysms demonstrates linkage to 11q24-25 and 14q23-31. Stroke 2006 1.12
84 Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration. Proc Natl Acad Sci U S A 2013 1.09
85 Common variant near the endothelin receptor type A (EDNRA) gene is associated with intracranial aneurysm risk. Proc Natl Acad Sci U S A 2011 1.08
86 NordicDB: a Nordic pool and portal for genome-wide control data. Eur J Hum Genet 2010 1.07
87 WNK3, a kinase related to genes mutated in hereditary hypertension with hyperkalaemia, regulates the K+ channel ROMK1 (Kir1.1). J Physiol 2005 1.07
88 Rare mutations in the human Na-K-Cl cotransporter (NKCC2) associated with lower blood pressure exhibit impaired processing and transport function. Am J Physiol Renal Physiol 2011 1.06
89 Mapping a Mendelian form of intracranial aneurysm to 1p34.3-p36.13. Am J Hum Genet 2004 1.05
90 Accelerated development of collapsing glomerulopathy in mice congenic for the HIVAN1 locus. Kidney Int 2008 1.04
91 WNK kinases: molecular regulators of integrated epithelial ion transport. Curr Opin Nephrol Hypertens 2004 1.04
92 WNK2 kinase is a novel regulator of essential neuronal cation-chloride cotransporters. J Biol Chem 2011 1.04
93 AMP-activated protein kinase (AMPK) activation and glycogen synthase kinase-3β (GSK-3β) inhibition induce Ca2+-independent deposition of tight junction components at the plasma membrane. J Biol Chem 2011 1.03
94 COL4A1 mutation in preterm intraventricular hemorrhage. J Pediatr 2009 1.01
95 Epigenetic abnormalities associated with a chromosome 18(q21-q22) inversion and a Gilles de la Tourette syndrome phenotype. Proc Natl Acad Sci U S A 2003 1.01
96 Clinical and genetic correlates of serum aldosterone in the community: the Framingham Heart Study. Am J Hypertens 2005 1.00
97 Src family protein tyrosine kinase (PTK) modulates the effect of SGK1 and WNK4 on ROMK channels. Proc Natl Acad Sci U S A 2009 0.99
98 Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia. Hum Mol Genet 2013 0.96
99 Localization and regulation of the ATP6V0A4 (a4) vacuolar H+-ATPase subunit defective in an inherited form of distal renal tubular acidosis. J Am Soc Nephrol 2003 0.96
100 Increased bone volume and correction of HYP mouse hypophosphatemia in the Klotho/HYP mouse. Endocrinology 2009 0.95
101 Whole-exome sequencing characterizes the landscape of somatic mutations and copy number alterations in adrenocortical carcinoma. J Clin Endocrinol Metab 2014 0.94
102 New insights into aldosterone-producing adenomas and hereditary aldosteronism: mutations in the K+ channel KCNJ5. Curr Opin Nephrol Hypertens 2013 0.94
103 Epithelial morphogenesis of MDCK cells in three-dimensional collagen culture is modulated by interleukin-8. Am J Physiol Cell Physiol 2013 0.93
104 Comprehensive DNA methylation analysis of benign and malignant adrenocortical tumors. Genes Chromosomes Cancer 2012 0.93
105 Molecular cloning and characterization of Atp6v1b1, the murine vacuolar H+ -ATPase B1-subunit. Gene 2003 0.93
106 Frequent germ-line mutations of the MEN1, CASR, and HRPT2/CDC73 genes in young patients with clinically non-familial primary hyperparathyroidism. Horm Cancer 2012 0.91
107 The DNA methylome of benign and malignant parathyroid tumors. Genes Chromosomes Cancer 2011 0.90
108 A novel protein kinase signaling pathway essential for blood pressure regulation in humans. Trends Endocrinol Metab 2008 0.90
109 Genetic landscape of metastatic and recurrent head and neck squamous cell carcinoma. J Clin Invest 2015 0.90
110 Rapid identification of disease-causing mutations using copy number analysis within linkage intervals. Hum Mutat 2007 0.89
111 Mutational analysis of 206 families with cavernous malformations. J Neurosurg 2003 0.89
112 Characterization of a large Lebanese family segregating IgA nephropathy. Nephrol Dial Transplant 2006 0.87
113 Familial cortical myoclonus with a mutation in NOL3. Ann Neurol 2012 0.86
114 Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis. Blood 2012 0.86
115 Thin basement membrane disease in patients with familial IgA nephropathy. J Nephrol 2004 0.85
116 Liver transplantation: from inception to clinical practice. Cell 2012 0.85
117 Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract. Hum Genet 2015 0.84
118 A pilot genome-wide association study shows genomic variants enriched in the non-tumor cells of patients with well-differentiated neuroendocrine tumors of the ileum. Endocr Relat Cancer 2011 0.84
119 Determinants of erythrocyte hydration. Curr Opin Hematol 2010 0.83
120 Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population. Neurogenetics 2008 0.82
121 Isolated polycystic liver disease genes define effectors of polycystin-1 function. J Clin Invest 2017 0.82
122 A novel PCLN-1 gene mutation in familial hypomagnesemia with hypercalciuria and atypical phenotype. Pediatr Nephrol 2006 0.82
123 Genetic landscape of metastatic and recurrent head and neck squamous cell carcinoma. J Clin Invest 2016 0.82
124 Candidate gene analysis: severe intraventricular hemorrhage in inborn preterm neonates. J Pediatr 2013 0.80
125 Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti. J Clin Invest 2015 0.78
126 A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly. Laboratory investigation. J Neurosurg 2007 0.77
127 An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred. Pediatr Dermatol 2012 0.75
128 Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency. J Clin Invest 2017 0.75
129 Isolated polycystic liver disease genes define effectors of polycystin-1 function. J Clin Invest 2017 0.75
130 Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus. Am J Hum Genet 2016 0.75
131 Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. Am J Hum Genet 2017 0.75
132 Mutations in the Type IV Collagens, COL4A1 and COL4A2 are Associated with Intraventricular Hemorrhage in Preterm Infants: 956. Neurosurgery 2009 0.75
133 The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15. Am J Med Genet A 2009 0.75