Richard P. Lifton

Richard P. Lifton's AcademicInfluence.com Rankings

Richard P. Lifton

Biology

#5730

World Rank

#8278

Historical Rank

Genetics

#526

World Rank

#602

Historical Rank

biology Degrees

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Biology

Richard P. Lifton's Degrees

Doctorate Medicine Stanford University
PhD Biochemistry Stanford University

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Richard P. Lifton's Published Works

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Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Genetic studies of body mass index yield new insights for obesity biology (2015) (3549)
De novo mutations revealed by whole-exome sequencing are strongly associated with autism (2012) (1893)
Molecular basis of human hypertension: Role of angiotensinogen (1992) (1883)
Autoantibodies against type I IFNs in patients with life-threatening COVID-19 (2020) (1744)
Molecular Mechanisms of Human Hypertension (2001) (1665)
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 (2020) (1524)
High bone density due to a mutation in LDL-receptor-related protein 5. (2002) (1468)
Human Hypertension Caused by Mutations in WNK Kinases (2001) (1370)
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing (2009) (1324)
New genetic loci link adipose and insulin biology to body fat distribution (2014) (1227)
Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism (2011) (1218)
Gitelman's variant of Barter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na–Cl cotransporter (1996) (1162)
Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption. (1999) (1097)
Liddle's syndrome: heritable human hypertension caused by mutations in the β subunit of the epithelial sodium channel (1994) (1096)
A chimaeric llβ-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension (1992) (1076)
Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma (2012) (1047)
Sequence Variants in SLITRK1 Are Associated with Tourette's Syndrome (2005) (959)
K+ Channel Mutations in Adrenal Aldosterone-Producing Adenomas and Hereditary Hypertension (2011) (844)
Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III (1997) (832)
Rare independent mutations in renal salt handling genes contribute to blood pressure variation (2008) (811)
Genetic heterogeneity of Barter's syndrome revealed by mutations in the K+ channel, ROMK (1996) (797)
Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1 (1996) (788)
Hypertension caused by a truncated epithelial sodium channel γ subunit: genetic heterogeneity of Liddle syndrome (1995) (745)
De novo mutations in histone modifying genes in congenital heart disease (2013) (740)
Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness (1999) (672)
Molecular Genetics of Human Blood Pressure Variation (1996) (654)
Genomic Analysis of Non-NF2 Meningiomas Reveals Mutations in TRAF7, KLF4, AKT1, and SMO (2013) (649)
Evidence for a Gene Influencing Blood Pressure on Chromosome 17: Genome Scan Linkage Results for Longitudinal Blood Pressure Phenotypes in Subjects From the Framingham Heart Study (2000) (620)
Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy. (2000) (584)
LRP6 Mutation in a Family with Early Coronary Disease and Metabolic Risk Factors (2007) (564)
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. (2015) (552)
Mutations in Kelch-like 3 and Cullin 3 cause hypertension and electrolyte abnormalities (2012) (548)
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies (2015) (544)
Genome-wide association study identifies susceptibility loci for IgA nephropathy (2011) (524)
Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na–K–2CI cotransporter NKCC2 (1996) (523)
Vaccine Breakthrough Infections with SARS-CoV-2 Variants (2021) (520)
A molecular variant of angiotensinogen associated with preeclampsia (1993) (518)
Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. (2008) (516)
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands (2017) (505)
Whole exome sequencing identifies recessive WDR62 mutations in severe brain malformations (2010) (492)
Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism (2013) (479)
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. (2015) (453)
Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. (1996) (439)
Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens (2014) (430)
Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10 (2009) (426)
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome (2013) (415)
Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing (2000) (413)
Molecular pathogenesis of inherited hypertension with hyperkalemia: The Na–Cl cotransporter is inhibited by wild-type but not mutant WNK4 (2003) (401)
Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation (2014) (399)
Absence of linkage between the angiotensin converting enzyme locus and human essential hypertension (1992) (399)
Impaired HLA Class I Antigen Processing and Presentation as a Mechanism of Acquired Resistance to Immune Checkpoint Inhibitors in Lung Cancer. (2017) (397)
Roles of the cation–chloride cotransporters in neurological disease (2008) (390)
WNK4 regulates the balance between renal NaCl reabsorption and K+ secretion (2003) (377)
A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity. (1995) (365)
Cloning of the NCX2 isoform of the plasma membrane Na(+)-Ca2+ exchanger. (1994) (360)
Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I (1998) (358)
Exome Sequencing Links Mutations in PARN and RTEL1 with Familial Pulmonary Fibrosis and Telomere Shortening (2015) (354)
Wnk4 controls blood pressure and potassium homeostasis via regulation of mass and activity of the distal convoluted tubule (2006) (351)
A Cluster of Metabolic Defects Caused by Mutation in a Mitochondrial tRNA (2004) (350)
Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27. (1998) (347)
Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase (1992) (327)
IgA nephropathy, the most common cause of glomerulonephritis, is linked to 6q22–23 (2000) (318)
Genomic landscape of cutaneous T cell lymphoma (2015) (315)
Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas (2015) (309)
A mutation in the epithelial sodium channel causing Liddle disease increases channel activity in the Xenopus laevis oocyte expression system. (1995) (305)
Geographic Differences in Genetic Susceptibility to IgA Nephropathy: GWAS Replication Study and Geospatial Risk Analysis (2012) (302)
Genome-wide association study of intracranial aneurysm identifies three new risk loci (2010) (298)
Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life. (2001) (293)
Mutational landscape of MCPyV-positive and MCPyV-negative Merkel cell carcinomas with implications for immunotherapy (2015) (289)
The Activity of the Epithelial Sodium Channel Is Regulated by Clathrin-mediated Endocytosis* (1997) (285)
Nonvalidation of reported genetic risk factors for acute coronary syndrome in a large-scale replication study. (2007) (285)
Susceptibility loci for intracranial aneurysm in European and Japanese populations (2008) (283)
Sites of Regulated Phosphorylation that Control K-Cl Cotransporter Activity (2009) (280)
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. (2013) (273)
Characterization of the mutational landscape of anaplastic thyroid cancer via whole-exome sequencing. (2015) (264)
Landscape of somatic single-nucleotide and copy-number mutations in uterine serous carcinoma (2013) (260)
Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths (2021) (257)
Mutations in SEC63 cause autosomal dominant polycystic liver disease (2004) (254)
Skint1, the prototype of a newly identified immunoglobulin superfamily gene cluster, positively selects epidermal γδ T cells (2008) (254)
L-histidine decarboxylase and Tourette's syndrome. (2010) (253)
Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis. (1998) (253)
Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning (2011) (244)
A novel form of human mendelian hypertension featuring nonglucocorticoid-remediable aldosteronism. (2008) (241)
Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism (2015) (240)
A founder mutation as a cause of cerebral cavernous malformation in Hispanic Americans. (1996) (238)
Angiotensin II signaling increases activity of the renal Na-Cl cotransporter through a WNK4-SPAK-dependent pathway (2009) (238)
Aberrant IgA1 glycosylation is inherited in familial and sporadic IgA nephropathy. (2008) (236)
Molecular physiology of the WNK kinases. (2008) (223)
Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5 (2012) (222)
Regulation of NKCC2 by a chloride-sensing mechanism involving the WNK3 and SPAK kinases (2008) (220)
WNK3 modulates transport of Cl- in and out of cells: implications for control of cell volume and neuronal excitability. (2005) (218)
Multilocus linkage of familial hyperkalaemia and hypertension, pseudohypoaldosteronism type II, to chromosomes 1q31-42 and 17p11-q21 (1997) (216)
Kelch-like 3 and Cullin 3 regulate electrolyte homeostasis via ubiquitination and degradation of WNK4 (2013) (209)
A mutation causing pseudohypoaldosteronism type 1 identifies a conserved glycine that is involved in the gating of the epithelial sodium channel (1997) (207)
Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors (2014) (200)
Increased Frequency of De Novo Copy Number Variants in Congenital Heart Disease by Integrative Analysis of Single Nucleotide Polymorphism Array and Exome Sequence Data (2014) (197)
WNK3 kinase is a positive regulator of NKCC2 and NCC, renal cation-Cl- cotransporters required for normal blood pressure homeostasis. (2005) (193)
Disruption of Contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome. (2004) (189)
A translocation causing increased α-Klotho level results in hypophosphatemic rickets and hyperparathyroidism (2008) (188)
Phosphoregulation of the Na-K-2Cl and K-Cl cotransporters by the WNK kinases. (2010) (183)
Copy-number disorders are a common cause of congenital kidney malformations. (2012) (182)
Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. (2016) (182)
Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21. (1995) (179)
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19 (2021) (178)
WNK4 regulates apical and basolateral Cl– flux in extrarenal epithelia (2004) (178)
Genetic determinants of human hypertension. (1995) (177)
Mitotic Recombination in Patients with Ichthyosis Causes Reversion of Dominant Mutations in KRT10 (2010) (176)
Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons (2014) (173)
Mutations in the Na-Cl Cotransporter Reduce Blood Pressure in Humans (2001) (173)
In vivo phosphorylation of the epithelial sodium channel. (1998) (172)
Paracellular Cl- permeability is regulated by WNK4 kinase: insight into normal physiology and hypertension. (2004) (170)
Intracranial aneurysm and hemorrhagic stroke in glucocorticoid-remediable aldosteronism. (1998) (166)
Regulation of the expression of the Cl-/anion exchanger pendrin in mouse kidney by acid-base status. (2002) (164)
Molecular and cellular reorganization of neural circuits in the human lineage (2017) (162)
Apolipoprotein C3 gene variants in nonalcoholic fatty liver disease. (2010) (160)
Comprehensive Re-Sequencing of Adrenal Aldosterone Producing Lesions Reveal Three Somatic Mutations near the KCNJ5 Potassium Channel Selectivity Filter (2012) (160)
Blunted renal vascular response to angiotensin II is associated with a common variant of the angiotensinogen gene and obesity (1996) (156)
Glucocorticoid-remediable aldosteronism in a large kindred: clinical spectrum and diagnosis using a characteristic biochemical phenotype. (1992) (155)
KANK deficiency leads to podocyte dysfunction and nephrotic syndrome. (2015) (155)
Mutational landscape of uterine and ovarian carcinosarcomas implicates histone genes in epithelial–mesenchymal transition (2016) (151)
An SGK1 site in WNK4 regulates Na+ channel and K+ channel activity and has implications for aldosterone signaling and K+ homeostasis (2007) (151)
Exclusion of the Na(+)-H+ antiporter as a candidate gene in human essential hypertension. (1991) (148)
Skint-1 is a highly specific, unique selecting component for epidermal T cells (2011) (147)
Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles (2016) (145)
The B1-subunit of the H(+) ATPase is required for maximal urinary acidification. (2005) (144)
Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration (2013) (142)
Mineralocorticoid receptor phosphorylation regulates ligand binding and renal response to volume depletion and hyperkalemia. (2013) (142)
Regression of Chemotherapy-Resistant Polymerase ϵ (POLE) Ultra-Mutated and MSH6 Hyper-Mutated Endometrial Tumors with Nivolumab (2016) (138)
Are There Interactions and Relations Between Genetic and Environmental Factors Predisposing to High Blood Pressure? (1991) (137)
CLCN2 Chloride Channel Mutations in Familial Hyperaldosteronism Type II (2017) (137)
WNK1, a kinase mutated in inherited hypertension with hyperkalemia, localizes to diverse Cl−-transporting epithelia (2003) (137)
Insights into genetics, human biology and disease gleaned from family based genomic studies (2019) (135)
Mutations in nuclear pore genes NUP93, NUP205, and XPO5 cause steroid resistant nephrotic syndrome (2016) (134)
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly (2017) (133)
Identification of somatic mutations in parathyroid tumors using whole-exome sequencing. (2012) (132)
Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome. (2018) (132)
Whole-exome sequencing characterizes the landscape of somatic mutations and copy number alterations in adrenocortical carcinoma. (2015) (131)
Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas (2015) (131)
Monogenic causes of chronic kidney disease in adults. (2019) (130)
WNK protein kinases modulate cellular Cl- flux by altering the phosphorylation state of the Na-K-Cl and K-Cl cotransporters. (2006) (128)
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency (2017) (126)
Early and multiple origins of metastatic lineages within primary tumors (2016) (126)
KCNJ10 determines the expression of the apical Na-Cl cotransporter (NCC) in the early distal convoluted tubule (DCT1) (2014) (126)
Catalytically‐inactive WNK3 bypasses the tonicity requirement for K‐Cl cotransporter activation via a phosphatase‐dependent pathway (2006) (125)
Genetic landscape of metastatic and recurrent head and neck squamous cell carcinoma. (2016) (124)
KRIT1, a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein (2002) (122)
WNK4 regulates activity of the epithelial Na+ channel in vitro and in vivo (2007) (120)
Hyperplasia of thejuxtaglomerular Complex with Hyperaldosteronism and Hypokalemic Alkalosis (1962) (120)
Common variant near the endothelin receptor type A (EDNRA) gene is associated with intracranial aneurysm risk (2011) (120)
Genome-Wide Association Studies in an Isolated Founder Population from the Pacific Island of Kosrae (2009) (117)
A dormant TIL phenotype defines non-small cell lung carcinomas sensitive to immune checkpoint blockers (2018) (116)
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. (2018) (115)
Genetic heterogeneity of inherited cerebral cavernous malformation. (1996) (115)
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract. (2018) (112)
Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adults. (2006) (111)
Novel somatic mutations in primary hyperaldosteronism are related to the clinical, radiological and pathological phenotype (2015) (111)
The molecular basis of inherited hypokalemic alkalosis: Bartter's and Gitelman's syndromes. (1996) (110)
The Centers for Mendelian Genomics: A new large‐scale initiative to identify the genes underlying rare Mendelian conditions (2012) (110)
Recessive LAMC3 mutations cause malformations of occipital cortical development (2011) (108)
A form of the metabolic syndrome associated with mutations in DYRK1B. (2014) (105)
Exome sequencing identifies recurrent somatic RAC 1 mutations in melanoma (2016) (103)
Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia. (2014) (103)
Non-modulation as an intermediate phenotype in essential hypertension. (1992) (103)
Molecular cloning and characterization of Atp6n1b: a novel fourth murine vacuolar H+-ATPase a-subunit gene. (2001) (102)
Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34. (1999) (101)
CANOES: detecting rare copy number variants from whole exome sequencing data (2014) (100)
Genomic characterization of sarcomatoid transformation in clear cell renal cell carcinoma (2016) (99)
Mutations in DSTYK and dominant urinary tract malformations. (2013) (97)
FAT1 mutations cause a glomerulotubular nephropathy (2016) (97)
Decreased ENaC expression compensates the increased NCC activity following inactivation of the kidney-specific isoform of WNK1 and prevents hypertension (2010) (95)
Localization and regulation of the ATP6V0A4 (a4) vacuolar H+-ATPase subunit defective in an inherited form of distal renal tubular acidosis. (2003) (91)
Mapping a locus for susceptibility to HIV-1-associated nephropathy to mouse chromosome 3. (2004) (91)
Frequent Germ-Line Mutations of the MEN1, CASR, and HRPT2/CDC73 Genes in Young Patients with Clinically Non-familial Primary Hyperparathyroidism (2012) (91)
Genetic Drivers of Kidney Defects in the DiGeorge Syndrome (2017) (91)
De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects (2016) (90)
Genetic dissection of human blood pressure variation: common pathways from rare phenotypes. (2004) (89)
Mapping a Mendelian form of intracranial aneurysm to 1p34.3-p36.13. (2005) (87)
DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling. (2015) (86)
Evaluation of the dexamethasone suppression test for the diagnosis of glucocorticoid-remediable aldosteronism. (1997) (86)
Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors (2014) (85)
De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus (2018) (82)
Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients. (2019) (82)
Epigenetic abnormalities associated with a chromosome 18(q21-q22) inversion and a Gilles de la Tourette syndrome phenotype (2003) (81)
Finding genetic contributions to sporadic disease: A recessive locus at 12q24 commonly contributes to patent ductus arteriosus (2002) (81)
WNK2 Kinase Is a Novel Regulator of Essential Neuronal Cation-Chloride Cotransporters* (2011) (80)
Comprehensive DNA methylation analysis of benign and malignant adrenocortical tumors (2012) (79)
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment (2018) (78)
Whole exome sequencing reveals somatic mutations in HRAS and KRAS which cause nevus sebaceus (2012) (77)
WNK kinases: molecular regulators of integrated epithelial ion transport. (2004) (76)
Elevated ambulatory blood pressure in 20 subjects with Williams syndrome. (1999) (76)
Mutation profiles in early-stage lung squamous cell carcinoma with clinical follow-up and correlation with markers of immune function (2016) (75)
Angiotensin II signaling via protein kinase C phosphorylates Kelch-like 3, preventing WNK4 degradation (2014) (75)
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy (2020) (75)
Clinical and genetic correlates of serum aldosterone in the community: the Framingham Heart Study. (2005) (74)
Evaluating potential for whole-genome studies in Kosrae, an isolated population in Micronesia (2006) (74)
Susceptibility loci for murine HIV-associated nephropathy encode trans-regulators of podocyte gene expression. (2009) (74)
Glucocorticoid-remediable aldosteronism (GRA): Diagnosis, variability of phenotype and regulation of potassium homeostasis (1995) (73)
Whole-exome sequencing and immune profiling of early-stage lung adenocarcinoma with fully annotated clinical follow-up (2017) (73)
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity (2015) (72)
Adenosine metabolism and murine strain-specific IL-4-induced inflammation, emphysema, and fibrosis. (2006) (71)
Isolated polycystic liver disease genes define effectors of polycystin-1 function (2017) (71)
Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder. (2005) (71)
Low Density Lipoprotein (LDL) Receptor-related Protein 6 (LRP6) Regulates Body Fat and Glucose Homeostasis by Modulating Nutrient Sensing Pathways and Mitochondrial Energy Expenditure* (2012) (70)
Liddle's syndrome: prospective genetic screening and suppressed aldosterone secretion in an extended kindred. (1997) (70)
Glucocorticoid-remediable aldosteronism is associated with severe hypertension in early childhood. (2001) (70)
The Congenital Heart Disease Genetic Network Study: Cohort description (2018) (69)
Evidence for Heritability of Non‐modulating Essential Hypertension (1989) (69)
WNK3, a kinase related to genes mutated in hereditary hypertension with hyperkalaemia, regulates the K+ channel ROMK1 (Kir1.1) (2006) (68)
Regulation of diverse ion transport pathways by WNK4 kinase: a novel molecular switch (2005) (68)
Wild-type LRP6 inhibits, whereas atherosclerosis-linked LRP6R611C increases PDGF-dependent vascular smooth muscle cell proliferation (2011) (67)
Mutational analysis of 206 families with cavernous malformations. (2003) (67)
Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development. (2015) (67)
De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis (2017) (65)
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome (2018) (65)
KRIT1/Cerebral Cavernous Malformation 1 Protein Localizes to Vascular Endothelium, Astrocytes, and Pyramidal Cells of the Adult Human Cerebral Cortex (2004) (64)
Molecular Genetic Analysis of Two Large Kindreds With Intracranial Aneurysms Demonstrates Linkage to 11q24-25 and 14q23-31 (2006) (64)
CARD14‐associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris (2018) (64)
Whole‐exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2D as a recurrently mutated gene (2015) (63)
The DNA methylome of benign and malignant parathyroid tumors (2011) (61)
COL4A1 mutation in preterm intraventricular hemorrhage. (2009) (60)
Predictors of Chemosensitivity in Triple Negative Breast Cancer: An Integrated Genomic Analysis (2016) (58)
Evidence of Genetic Heterogeneity in Five Kindreds With Familial Hypertrophic Cardiomyopathy (1992) (58)
Isolated polycystic liver disease genes define effectors of polycystin-1 function. (2017) (57)
ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment (2016) (57)
Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti. (2015) (57)
Neomorphic effects of recurrent somatic mutations in Yin Yang 1 in insulin-producing adenomas (2015) (56)
Liddle's disease: abnormal regulation of amiloride-sensitive Na+ channels by beta-subunit mutation. (1996) (56)
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. (2017) (56)
LRP 6 Mutation in a Family with Early Coronary Disease and Metabolic Risk Factors (2008) (56)
Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma. (2017) (56)
Mutations of the SLIT2–ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract (2015) (55)
Rare mutations in the human Na-K-Cl cotransporter (NKCC2) associated with lower blood pressure exhibit impaired processing and transport function. (2011) (55)
The connecting tubule is the main site of the furosemide-induced urinary acidification by the vacuolar H+-ATPase. (2006) (55)
Additional support for the association of SLITRK1 var321 and Tourette syndrome (2010) (55)
Phenotypic expansion of DGKE-associated diseases. (2014) (54)
Macrolides selectively inhibit mutant KCNJ5 potassium channels that cause aldosterone-producing adenoma (2017) (53)
Comprehensive Genetic Analysis of Follicular Thyroid Carcinoma Predicts Prognosis Independent of Histology (2018) (53)
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*♦ (2011) (51)
Mice lacking the B1 subunit of H+-ATPase have normal hearing (2003) (51)
Gene-environment interactions in severe intraventricular hemorrhage of preterm neonates (2013) (50)
Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus (2020) (50)
Glucocorticoid-remediable aldosteronism and pregnancy. (2000) (50)
Dominant de novo mutations in GJA1 cause erythrokeratodermia variabilis et progressiva, without features of oculodentodigital dysplasia (2014) (49)
Salt and blood pressure: new insight from human genetic studies. (2002) (49)
Serial exome analysis of disease progression in premalignant gammopathies (2014) (49)
Whole-exome sequencing and immune profiling of early-stage lung adenocarcinoma with fully annotated clinical follow-up. (2017) (49)
Apolipoprotein C 3 Gene Variants in Nonalcoholic Fatty Liver Disease (2010) (49)
Loss of RNA expression and allele-specific expression associated with congenital heart disease (2016) (49)
Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases (2015) (48)
Ion transporter mutations in Gitelman's and Bartter's syndromes (1998) (47)
Application of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in Adults (2017) (47)
Characterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic Syndrome. (2015) (47)
Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis (2016) (47)
SeSAME/EAST syndrome—phenotypic variability and delayed activity of the distal convoluted tubule (2012) (47)
Identification of a gain-of-function STAT3 mutation (p.Y640F) in lymphocytic variant hypereosinophilic syndrome. (2016) (47)
Developmentally regulated KCC2 phosphorylation is essential for dynamic GABA-mediated inhibition and survival (2019) (46)
Impaired potassium-stimulated aldosterone production: a possible explanation for normokalemic glucocorticoid-remediable aldosteronism. (1997) (44)
Individual genomes on the horizon. (2010) (44)
Mutational landscape of primary, metastatic, and recurrent ovarian cancer reveals c-MYC gains as potential target for BET inhibitors (2018) (44)
Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome. (2004) (44)
Genetic landscape of metastatic and recurrent head and neck squamous cell carcinoma. (2016) (43)
Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation (2019) (43)
Whole-exome sequencing of cervical carcinomas identifies activating ERBB2 and PIK3CA mutations as targets for combination therapy (2019) (43)
Characterization of a large Lebanese family segregating IgA nephropathy. (2007) (43)
Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology. (2014) (43)
Maternal race, demography, and health care disparities impact risk for intraventricular hemorrhage in preterm neonates. (2014) (41)
Mutations in Na(K)Cl transporters in Gitelman's and Bartter's syndromes. (1998) (41)
Phosphorylation by PKC and PKA regulate the kinase activity and downstream signaling of WNK4 (2017) (41)
Src family protein tyrosine kinase (PTK) modulates the effect of SGK1 and WNK4 on ROMK channels (2009) (41)
Familial aggregation of primary glomerulonephritis in an Italian population isolate: Valtrompia study. (2006) (41)
Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis. (2012) (40)
A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling. (2017) (39)
New insights into aldosterone-producing adenomas and hereditary aldosteronism: mutations in the K+ channel KCNJ5 (2013) (39)
A novel protein kinase signaling pathway essential for blood pressure regulation in humans (2008) (38)
Calcineurin dephosphorylates Kelch-like 3, reversing phosphorylation by angiotensin II and regulating renal electrolyte handling (2019) (37)
The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies (2022) (37)
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. (2016) (37)
Protein phosphatase 1 modulates the inhibitory effect of With-no-Lysine kinase 4 on ROMK channels. (2012) (36)
Contributions of Rare Gene Variants to Familial and Sporadic FSGS. (2019) (35)
Bartter syndrome and focal segmental glomerulosclerosis: a possible link between two diseases (2000) (35)
Molecular cloning and characterization of Atp6v1b1, the murine vacuolar H+ -ATPase B1-subunit. (2003) (35)
GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome. (2018) (35)
Robust identification of mosaic variants in congenital heart disease (2018) (34)
Genes and environment in neonatal intraventricular hemorrhage. (2015) (34)
Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome. (2016) (34)
Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension (2016) (34)
Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child (2021) (34)
Integrated mutational landscape analysis of uterine leiomyosarcomas (2021) (33)
Somatic HRAS p.G12S Mutation Causes Woolly Hair and Epidermal Nevi (2013) (33)
Advillin acts upstream of phospholipase C ε1 in steroid-resistant nephrotic syndrome (2017) (33)
Extended haplotype association study in Crohn’s disease identifies a novel, Ashkenazi Jewish-specific missense mutation in the NF-κB pathway gene, HEATR3 (2013) (32)
Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis. (2019) (32)
Increased bone volume and correction of HYP mouse hypophosphatemia in the Klotho/HYP mouse. (2010) (31)
Mutations contributing to human blood pressure variation. (1997) (31)
Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia (2022) (29)
Finding genes that cause human hypertension. (1993) (29)
ADCK 4 mutations promote steroid-resistant nephrotic syndrome through CoQ 10 biosynthesis disruption (2018) (29)
Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus. (2016) (29)
Accelerated development of collapsing glomerulopathy in mice congenic for the HIVAN1 locus. (2009) (29)
Increased Levels of Macrophage Inflammatory Proteins Result in Resistance to R5-Tropic HIV-1 in a Subset of Elite Controllers (2015) (29)
Variation of phenotype in patients with glucocorticoid remediable aldosteronism. (1996) (29)
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype (2015) (29)
Peptide block of constitutively activated Na+ channels in Liddle's disease. (1996) (27)
A Genome‐Wide Association Study to Identify Single‐Nucleotide Polymorphisms for Acute Kidney Injury (2017) (26)
Thin basement membrane disease in patients with familial IgA nephropathy. (2004) (26)
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. (2011) (26)
Absence of amiloride-sensitive sodium absorption in the airway of an infant with pseudohypoaldosteronism. (1999) (26)
Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases (2017) (25)
Multigenic human hypertension: evidence for subtypes and hope for haplotypes. (1990) (25)
Determinants of erythrocyte hydration (2010) (24)
Liver Transplantation: From Inception to Clinical Practice (2012) (24)
Epithelial morphogenesis of MDCK cells in three-dimensional collagen culture is modulated by interleukin-8. (2013) (24)
Clonal evolution analysis of paired anaplastic and well‐differentiated thyroid carcinomas reveals shared common ancestor (2018) (24)
NordicDB: a Nordic pool and portal for genome-wide control data (2010) (24)
Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus (2022) (23)
Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease (2020) (23)
Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy. (2019) (23)
On optimal pooling designs to identify rare variants through massive resequencing (2011) (23)
Low peripheral plasma renin activity as a critical marker in pediatric hypertension (1997) (23)
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. (2017) (23)
Potassium depletion stimulates Na-Cl cotransporter via phosphorylation and inactivation of the ubiquitin ligase Kelch-like 3. (2016) (22)
Histone H2B monoubiquitination regulates heart development via epigenetic control of cilia motility (2019) (22)
Rare deleterious mutations of the gene EFR3A in autism spectrum disorders (2014) (21)
DIAPH1 Variants in Non-East Asian Patients With Sporadic Moyamoya Disease. (2021) (21)
Familial cortical myoclonus with a mutation in NOL3 (2012) (21)
De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease (2020) (19)
CELA2A mutations predispose to early-onset atherosclerosis and metabolic syndrome and affect plasma insulin and platelet activation (2019) (19)
Genetic Diseases of the Kidney (2009) (19)
ULK1 Phosphorylates and Regulates Mineralocorticoid Receptor. (2018) (19)
Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome (2019) (19)
Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation (2017) (19)
Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia (2020) (18)
Src-family protein tyrosine kinase phosphorylates WNK4 and modulates its inhibitory effect on KCNJ1 (ROMK) (2015) (18)
Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia. (2019) (18)
Erratum: Isolated polycystic liver disease genes define effectors of polycystin-1 function (The Journal of clinical investigation (2017) 127 5 (1772-1785) PII: 96729) (2017) (18)
Centers for Mendelian Genomics: A decade of facilitating gene discovery (2021) (18)
Hypokalemia Associated With a Claudin 10 Mutation: A Case Report. (2019) (17)
The risk of COVID-19 death is much greater and age-dependent with type I IFN autoantibodies (2022) (17)
Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis (2019) (17)
Rapid identification of disease‐causing mutations using copy number analysis within linkage intervals (2007) (17)
TBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome. (2019) (17)
Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population (2008) (16)
Genetic linkage analysis in familial benign hypercalcemia using a candidate gene strategy. I. Studies in four families. (1992) (16)
Finding genes that cause human hypertension (1993) (16)
An Incompletely Penetrant Novel Mutation in COL7A1 Causes Epidermolysis Bullosa Pruriginosa and Dominant Dystrophic Epidermolysis Bullosa Phenotypes in an Extended Kindred (2012) (16)
Recent advances in the molecular genetics of hypertension. (1996) (16)
Mutation profiles in early-stage lung squamous cell carcinoma with clinical follow-up and correlation with markers of immune function. (2016) (15)
The molecular basis of glucocorticoid-remediable aldosteronism, a Mendelian cause of human hypertension. (1992) (15)
Identification of a dominant MYH11 causal variant in chronic intestinal pseudo‐obstruction: Results of whole‐exome sequencing (2019) (15)
Haplotype analysis in the presence of informatively missing genotype data (2006) (15)
Mutations in PERP Cause Dominant and Recessive Keratoderma. (2019) (15)
Lipoprotein glomerulopathy: a new role for apolipoprotein E? (1997) (15)
Liddle’s syndrome: Heritable human hypertension caused by mutations in the ß subnit of the epithelial sodium channel (1995) (15)
Improved survival of patients with hypermutation in uterine serous carcinoma (2015) (14)
Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency (2021) (14)
Molecular Genetic Analysis of Two Large Kindreds With Intracranial Aneurysms Demonstrates Linkage to 11 q 24-25 and 14 q 23-31 (2006) (14)
Co-occurrence of frameshift mutations in SMAD6 and TCF12 in a child with complex craniosynostosis (2018) (14)
Candidate gene analysis: severe intraventricular hemorrhage in inborn preterm neonates. (2013) (13)
Organic Solute Transporter Alpha Deficiency: A Disorder With Cholestasis, Liver Fibrosis, and Congenital Diarrhea (2019) (13)
EM-mosaic detects mosaic point mutations that contribute to congenital heart disease (2020) (13)
Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation (2019) (13)
Genetic Defects in DNAH2 Underlie Male Infertility With Multiple Morphological Abnormalities of the Sperm Flagella in Humans and Mice (2021) (13)
A novel PCLN-1 gene mutation in familial hypomagnesemia with hypercalciuria and atypical phenotype (2007) (13)
A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly. Laboratory investigation. (2007) (13)
Whole-exome sequencing and immune profiling of early-stage lung adenocarcinoma with fully annotated clinical follow-up. (2018) (13)
Potassium depletion stimulates Na-Cl cotransporter via phosphorylation and inactivation of the ubiquitin ligase Kelch-like 3. (2016) (13)
Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children (2022) (12)
Inherited Disorders of Renal Salt Homeostasis: Insights from Molecular Genetics Studies (2013) (12)
Recessive Mutations in KIF12 Cause High Gamma‐Glutamyltransferase Cholestasis (2019) (12)
Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice (2021) (11)
Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome (2018) (11)
The Genomic and Phenotypic Landscape of Ichthyosis: An Analysis of 1000 Kindreds. (2021) (11)
PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans (2021) (11)
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. (2020) (11)
DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation. (2020) (11)
Erratum: Whole-exome sequencing and immune profiling of early-stage lung adenocarcinoma with fully annotated clinical follow-up [Ann Oncol, 28, 1, (2017) (75-82)] DOI: 10.1093/annonc/mdw436 (2017) (10)
Human Genetics and Molecular Mechanisms of Congenital Hydrocephalus. (2018) (10)
Glucocorticoid-remediable aldosteronism. (1996) (10)
A genome-wide case-only test for the detection of digenic inheritance in human exomes (2020) (10)
Recessive Inheritance of Congenital Hydrocephalus With Other Structural Brain Abnormalities Caused by Compound Heterozygous Mutations in ATP1A3 (2019) (10)
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans (2019) (10)
Pioneering a Global Cure for Chronic Hepatitis C Virus Infection (2016) (10)
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. (2021) (9)
Lasker Award to Heart Valve Pioneers (2007) (9)
CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations. (2019) (9)
WNK 2 is a novel regulator of essential neuronal cation-chloride cotransporters (2011) (9)
The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15 (2009) (9)
The molecular basis of a hereditary form of hypertension, glucocorticoid-remediable aldosteronism (1993) (8)
Molecular Genetics of Gitelman's and Bartter's Syndromes and their Implications for Blood Pressure Variation (2009) (8)
Digenic mutations of human OCRL paralogs in Dent’s disease type 2 associated with Chiari I malformation (2016) (8)
C-terminally truncated, kidney-specific variants of the WNK4 kinase lack several sites that regulate its activity (2018) (8)
False positive mononucleosis screening test results associated with Klebsiella hepatic abscess. (1990) (8)
GIMAP5 maintains liver endothelial cell homeostasis and prevents portal hypertension (2021) (8)
Genetic factors in hypertension. (1993) (8)
De novo mutations in Congenital Heart Disease with Neurodevelopmental and Other Birth Defects (2016) (8)
Erratum : Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations (The American Journal of Human Genetics (2017) 101(5) (789–802) (S0002929717303877) (10.1016/j.ajhg.2017.09.018)) (2017) (7)
Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors (2015) (7)
Loss of plasma membrane V-H+-ATPase activity from cortical collecting duct intercalated cells of H+-ATPase B1-subunit deficient mice: A mouse model of distal renal tubular acidosis. (2002) (7)
Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome. (2021) (7)
Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis. (2020) (7)
Counting strokes (1996) (6)
Absence of KMT2D/MLL2 mutations in abdominal paraganglioma (2016) (6)
Late-Onset Bartter Syndrome Type II Due to a Homozygous Mutation in KCNJ1 Gene: A Case Report and Literature Review (2020) (6)
Shifting patterns of genomic variation in the somatic evolution of papillary thyroid carcinoma (2016) (6)
Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects (2020) (5)
Genetic Influence on Neurodevelopment in Nonsyndromic Craniosynostosis (2022) (5)
Metabolic Syndrome—What We Know and What We Don't Know LPR6 Mutation in a Family with Early Coronary Disease and Metabolic Risk Factors. Science 315: 1278–1282, 2007 (2007) (5)
Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders (2021) (5)
Erratum: Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus (American Journal of Human Genetics (2016) 98(6) (1082–1091) (S000292971630057X) (10.1016/j.ajhg.2016.03.022)) (2016) (4)
Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome (2020) (4)
Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus. (2016) (4)
PHA-1 A novel thermosensitive mutation in the ectodomain of alpha ENaC (1998) (4)
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes (2021) (4)
MA15.06 Predictive Value of Measuring Somatic Mutations and Tumor Infiltrating Lymphocytes for PD-1 Axis Therapy in Non-Small Cell Lung Cancer (NSCLC) (2017) (4)
ACOX 2 deficiency : a new disorder of bile acid synthesis with transaminase elevation , liver fibrosis , ataxia and cognitive impairment (2016) (4)
A Population Perspective for Genetics Research and Applications to Control Cardiovascular Disease in Utah (1991) (4)
De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis (2022) (3)
Cell Metabolism: Why, and why now? (2005) (3)
Multiple Recurrent De Novo Copy Number Variations , Including Duplications of the 7 q 11 . 23 Williams-Beuren Syndrome Region , Are Associated with Autism (2011) (3)
Integrative modeling of transmitted and de novo variants identifies novel risk genes for congenital heart disease. (2021) (3)
Letters to the Editor will be published, if suitable, as space permits. They should not exceed 1000 words (typed, double-spaced) in length and may be subject to editing or abridgment. (2007) (3)
Mutations in renal ion transporters cause Gitelman's and Bartter's syndromes of inherited hypokalemic alkalosis. (1997) (3)
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 (2023) (3)
Mutations in WNK kinases reveal a novel mechanism of human hypertension (2001) (3)
Early post-zygotic mutations contribute to congenital heart disease (2019) (3)
A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux (2018) (3)
Finding Genetic Mechanisms in Syndromes of Sleep Disordered Breathing: Report to the RNS Assembly and the ATS Board from the ad hoc Committee on Inheritance and Ventilatory Control; Approved by the ATS Board of Directors July 11, 1999 (1999) (3)
Mutational landscape of uterine and ovarian carcinosarcomas. (2016) (3)
Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy (2021) (3)
Corrigendum: Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors (2014) (2)
Genetic linkage with candidate genes in human essential hypertension. (1990) (2)
Urinary acidification defect in response to furosemide in H+-ATPase B1 subunit-deficient mice. (2002) (2)
ETV4 Mutation in a Patient with Congenital Anomalies of the Kidney and Urinary Tract (2016) (2)
Author response: Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles (2016) (2)
The Syndrome of Hypertension and Hyperkalemia (Pseudohypoaldosteronism Type II) (2009) (2)
The choroid plexus links innate immunity to CSF dysregulation in hydrocephalus (2023) (2)
Author response: Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism (2015) (2)
Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or Obesity (2022) (2)
GWAS defines pathogenic signaling pathways and prioritizes drug targets for IgA nephropathy (2021) (2)
Human immunodeficiency reveals GIMAP5 as lymphocyte-specific regulator of senescence (2021) (2)
Molecular Cloning and Characterization ofAtp6n1b (2001) (2)
DYRK1B modifies insulin action in liver and skeletal muscle and predispose to atherosclerosis (2015) (1)
Quantifying concordant genetic effects of de novo mutations on multiple disorders (2021) (1)
Molecular Genetics of Magnesium Homeostasis (2009) (1)
027 Identification of a gain-of-function STAT3 mutation (p.Y640F) in lymphocytic variant hypereosinophilic syndrome (2016) (1)
Abstract 15938: Identification of a Novel Disease Gene for Early Onset Atherosclerosis, Diabetes and Metabolic Syndrome by Whole Exome Sequencing and Linkage Analysis (2013) (1)
Somatic Ras/Raf/MAPK Variants Enriched in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy (2022) (1)
Genetic Approaches to Human Disease (2009) (1)
Mutations disrupting neuritogenesis genes represent a major independent risk factor for cerebral palsy (2020) (1)
Enhanced Ca2+ signaling, mild primary aldosteronism, and hypertension in a familial hyperaldosteronism mouse model (Cacna1hM1560V/+) (2021) (1)
351 Epidermal fragility in Keratin 10 ichthyosis with confetti mutation results from loss of keratin 1-desmoplakin interaction (2016) (1)
Su1894 Exome Sequencing of Formalin Fixed Paraffin Embedded Pancreatic Ductal Adenocarcinoma Samples Expands Mutational Landscape and Identifies Hypermutator Phenotype (2014) (1)
Mutation spectrum of congenital heart disease in a consanguineous Turkish population (2022) (1)
Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches (2020) (1)
CLCN2 chloride channel mutations in familial hyperaldosteronism type II (2018) (1)
Abstract 142: Mutation and immune profiles in early-stage lung squamous cell carcinoma (2016) (1)
Molecular genetics of human developmental neurocranial anomalies: towards "precision surgery". (2022) (1)
Next-Generation Exome Sequencing of Primary Congenital Glaucoma (PCG) Families (2014) (1)
Molecular Cloning and Characterization of Atp6n1b (2001) (0)
Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis. (2023) (0)
TRIM71 Mutations Cause Human and Murine Congenital Hydrocephalus by Impairing Prenatal Neural Stem Cell Regulation (2020) (0)
State-of-the-Art Lecture: Finding Genes That Cause Human Hypertension (2005) (0)
ABSTRACTS | Genetic Disease & Gene Regulation (2015) (0)
Abstract 20140: Minibrain Relate Kinase / Dyrk1B Links Skeletal Muscle Glycolytic Metabolism with Insulin Resistance and Causes Metabolic Syndrome (2014) (0)
Whole-exome sequencing and immune profiling of early-stage lung adenocarcinoma with fully annotated clinical follow-up. (2017) (0)
EM-mosaic detects mosaic point mutations that contribute to congenital heart disease (2020) (0)
Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs (2022) (0)
080 Mutational landscape of MCPyV-positive and MCPyV-negative Merkel cell carcinomas with implications for immunotherapy (2016) (0)
A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family (2022) (0)
Variations in severity of hypertension in a large pedigree with glucocorticoid-remediable aldosteronism (1993) (0)
1201 Whole Exon Deletion in the Claudin 16 Gene, a Novel Mutation in Familial Hypomagnesemia/Hypercalciuria/Nephrocalcinosis (FHHNC) and Sensorineural Deafness (SND) (2012) (0)
Abstract A09: Impaired HLA Class I antigen processing and presentation as a mechanism of acquired Rrsistance to immune checkpoint inhibitors in lung cancer (2018) (0)
Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts (2023) (0)
Genome-Wide Association Studies in an Isolated Founder Population from the Pacific Island of Kosrae Citation Lowe (2009) (0)
116 Exome Sequencing Uncovers Molecular Determinants of Trigeminal Neuralgia (2018) (0)
Abstract 10000: Mutation in CELA2A Derives Early-onset Cardiovascular Diseases (2019) (0)
Hereditary Hypertension Channel Mutations in Adrenal Aldosterone-Producing Adenomas + K (2011) (0)
Angiotensinogen genotype affects HDL levels in afro-caribbeans (1999) (0)
Thesis Abstracts 1997 (1997) (0)
CELA2A mutations predispose to early-onset atherosclerosis and metabolic syndrome and affect plasma insulin and platelet activation (2019) (0)
Exome Sequencing Implicates SWI/SNF Chromatin Remodeling Genes in Human Congenital Hydrocephalus (2019) (0)
Deletion of KCNJ10 eliminates potassium conductance in the basolateral membrane of the early distal convoluted tubule (DCT1). (893.17) (2014) (0)
A mutation in WNK4 that causes human hypertension activates the epithelial Na+ channel in vivo (2007) (0)
2006 Donald Seldin Lecture Molecular Genetics of Cardiovascular Risks: The Kidney as the Cause of Hypertension (2006) (0)
169 Exome Sequencing Implicates Endothelial Ras Signaling Network in Vein of Galen Aneurysmal Malformation (2023) (0)
Symptomatic Arachnoid Cysts are Associated With Mutations in Chromatin Remodeling Genes (2020) (0)
Regulated phosphorylation of KCC2 during CNS development is essential for dynamic GABA-mediated inhibition and survival (2019) (0)
Abstract 24: Two Locus Inheritance of Non-Syndromic Midline Craniosynostosis Via Rare SMAD6 and Common BMP2 Alleles (2017) (0)
Insights into genetics, human biology and disease gleaned from family based genomic studies (2019) (0)
Comprar Genetic Diseases Of The Kidney | Richard P Lifton | 9780124498518 | Academic Press (2009) (0)
PL-4: INSIGHTS INTO MOLECULAR MECHANISMS OF HYPERTENSION FROM HUMAN GENETICS (2023) (0)
Abstract QS43: Blepharophimosis Ptosis Epicanthus Inversus Syndrome Caused by a ZC3H13 Gene Mutation (2018) (0)
MA16.02 Mutational Landscape of TKI Naïve and Resistant EGFR Mutant Lung Adenocarcinomas (2017) (0)
Familial primary hypomagnesemia and temporal lobe epilepsy (2004) (0)
Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis (2016) (0)
Abstract 89: Whole-exome sequencing and immune profiling of early-stage lung adenocarcinoma (2016) (0)
Faculty Opinions recommendation of LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. (2001) (0)
MP71-12 GENOMIC CHARACTERIZATION OF SARCOMATOID TRANSFORMATION IN CLEAR CELL RENAL CELL CARCINOMA (2016) (0)
Molecular Biology of Cerebrovascular Diseases (1998) (0)
Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy. (2023) (0)
799 Exome, genome, and cDNA sequencing reveal KDSR mutations cause two forms of ichthyosis and identify retinoids as pathogenesis-directed therapy (2018) (0)
180 ASPRV1 mutations cause dominantly inherited ichthyosis (2021) (0)
Abstract PD3-2: Broad exonic DNA diversity is associated with resistance to taxane-FAC chemotherapy in triple negative breast cancer (2015) (0)
Annual review of genomics and human genetics (2000) (0)
Abstract 82: De novo Mutation Burden Reveals Novel Molecular Subtypes of Non-syndromic Craniosynostosis (2018) (0)
Early Onset Hypertension with Primary Hyperaldosteronism through Mutation in the Calcium Channel CACNA1H - Case Report (2016) (0)
294 Recessive mutations in AP1B1 cause ichthyosis, deafness, and blindness (2020) (0)
Abstract 985: The mutational landscape of LN metastasis and recurrence in HNSCC (2014) (0)
The electroneutral NaCl transport in the intercalated cells of the collecting duct is upregulated in PHAII-mutant WNK4 mice (2013) (0)
Integrative Genomics Implicates Genetic Disruption of Prenatal Neurogenesis in Congenital Hydrocephalus (2020) (0)
Shifting patterns of genomic variation in the somatic evolution of papillary thyroid carcinoma (2016) (0)
Co-occurrence of frameshift mutations in SMAD6 and TCF12 in a child with complex craniosynostosis (2018) (0)
102 Exome Sequencing Identifies Novel Molecular Determinants of Human Congenital Hydrocephalus (2017) (0)
Abstract 140: LRP6 Influences Body Fat and Glucose Homeostasis in Mouse by Activating mTOR Pathway and Inhibiting Mitochondrial Energy Expenditure (2012) (0)
Genes of the Renin-Angiotensin System and the Genetics of Human Hypertension (2018) (0)
Genetic dysregulation of an endothelial Ras signaling network in vein of Galen malformations (2023) (0)
Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy (2021) (0)
130. De Novo Mutations in 555 Trios Implicate Chromatin Modification, Transcriptional Regulation, and Retinoic Acid Signaling in Syndromic Craniosynostosis (2022) (0)
A novel SMARCC1-mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus (2023) (0)
Surface Expression by Protein Kinases WNK4 and Spleen Tyrosine Kinase Antagonistic Regulation of Cystic Fibrosis Transmembrane Conductance Regulator Cell (2011) (0)
Title Genetic landscape of metastatic and recurrent head and neck squamous cell carcinoma (2015) (0)
Contribution of rare transmitted and de novo variants among 2 , 871 1 congenital heart disease probands (2017) (0)
Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease (2023) (0)
Leading Edge BenchMarks Pioneering a Global Cure for Chronic Hepatitis C Virus Infection (2016) (0)
Mutations in NRIP 1 cause dominant urinary tract malformations via dysregulation of retinoic acid signaling (2017) (0)
Rare but Relevant Kidney Disorders (2009) (0)
Exome Sequencing Defines the Molecular Pathogenesis of Vein of Galen Malformation (2019) (0)
Claudins Mediate Specific Paracellular Fluxes in Vivo: Paracellin-1 Is Required for Paracellular Mg 2+ Flux (2001) (0)
Genes Controlling TGF-β-Induced Pulmonary Phenotypes Defined by Genetic Mapping and mRNA Expression Array Analysis. (2009) (0)
Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia (2022) (0)
Mutations in chromatin modifiers and Ephrin signaling components in Vein of Galen malformation (2019) (0)
Immunohistochemical Evaluation of HER-2 / Neu Oncoprotein and P-glycoprotein Expression as Prognostic Indicators in Breast Cancer (2008) (0)
Dual impact of PTEN mutation on CSF dynamics and cortical networks via the dysregulation of neural precursors and their interneuron descendants (2023) (0)
Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models (2022) (0)
5 MUTATIONS IN K+ CHANNEL KCNJ5 (KIR3.4) COMMONLY CAUSE ALDOSTERONE-PRODUCING ADENOMAS (2012) (0)
Richard Lifton, 2005 (2019) (0)
Richard Lifton, 2005 (2019) (0)
Src‐family tyrosine kinase (SFK) phosphorylates With‐No‐ Lysine Kinase4 (WNK4) and modulates the inhibitory effect of WNK4 on ROMK channels. (2013) (0)
Mutations of the SLIT2–ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract (2015) (0)
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment (2018) (0)
Mutations in the Type IV Collagens, COL4A1 and COL4A2 are Associated with Intraventricular Hemorrhage in Preterm Infants: 956 (2009) (0)
Ion transporter and channel mutations in Bartter's and Gitelman's syndromes of inherited hypokalemic alkalosis (1998) (0)
Abstract 135: Mutational landscape of uterine and ovarian carcinosarcomas reveals new recurrently-mutated histone core genes as drivers of epithelial-mesenchymal transition (2016) (0)
P3.02c-088 Acquired Resistance to Programmed Death-1 Axis Inhibitors in Non-Small Cell Lung Cancer (NSCLC): Topic: IT Biomarkers (2017) (0)
Yale School of Medicine thesis abstracts 2002. (2002) (0)
Author response for "Identification of a Dominant MYH11 Causal Variant in Chronic Intestinal Pseudo‐Obstruction: Results of Whole‐Exome Sequencing" (2019) (0)
LRRC23 loss-of-function impairs radial spoke 3 head assembly and causes defective sperm motility underlying male infertility (2023) (0)
Mutations of IFT81, encoding an IFT-B core protein, as a rare cause of a ciliopathy (2015) (0)
Haplotype analysis of rs9275224, rs2856717, rs9275424, and rs9275596 at the HLA-DQB1/DRB1 locus. (2012) (0)
Exome Sequencing of Familial and Sporadic Cases with Pseudoexfoliation Syndrome (XFS) (2014) (0)
Robust identification of mosaic variants in congenital heart disease (2018) (0)
De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis. (2023) (0)
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans (2019) (0)

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What Schools Are Affiliated With Richard P. Lifton?

Richard P. Lifton is affiliated with the following schools:

Yale University
University of Zaragoza
Rockefeller University
University of Alabama at Birmingham