Lifton, Richard

Publication with MATCHING institution:

Sun Q, Burgren NM, Cheraghlou S, ..., Choate KA (2022) The Genomic and Phenotypic Landscape of Ichthyosis: An Analysis
of 1000 Kindreds. JAMA Dermatology. [IF=3.244, Cited=5, 34851365].
Khoshkhoo S, Wang Y, Chahine Y, ..., Kahle KT (2023) Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase
Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy. JAMA Neurology. [IF=5.982, Cited=11, 37126322].
Kolvenbach CM, van der Ven AT, Kause F, ..., Hildebrandt F (2021) Exome survey of individuals affected by VATER/VACTERL
with renal phenotypes identifies phenocopies and novel candidate genes. American Journal of Medical Genetics, Part A.
[IF=1.165, Cited=5, 34338422].
Wang C, Seltzsam S, Zheng B, ..., Hildebrandt F (2022) Whole exome sequencing identifies potential candidate genes for
spina bifida derived from mouse models. American Journal of Medical Genetics, Part A. [IF=1.165, Cited=2, 35040250].
Lee JS, Choi M, Yan X, ..., Zhao H (2011) On optimal pooling designs to identify rare variants through massive
resequencing. Genetic Epidemiology. [IF=0.668, Cited=13, 21254222].
Vilarinho S, Sari S, Yilmaz G, ..., Lifton R (2016) Recurrent recessive mutation in deoxyguanosine kinase causes
idiopathic noncirrhotic portal hypertension. Hepatology. [IF=2.917, Cited=25, 26874653].
Gao E, Cheema H, Waheed N, ..., Vilarinho S (2020) Organic Solute Transporter Alpha Deficiency: A Disorder With
Cholestasis, Liver Fibrosis, and Congenital Diarrhea. Hepatology. [IF=2.917, Cited=15, 31863603].
Ünlüsoy Aksu A, Das SK, Nelson-Williams C, ..., Vilarinho S (2019) Recessive Mutations in KIF12 Cause High Gamma-
Glutamyltransferase Cholestasis. Hepatology Communications. [IF=1.247, Cited=12, 30976738].
Spier I, Holzapfel S, Altmüller J, ..., Aretz S (2015) Frequency and phenotypic spectrum of germline mutations in POLE
and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas. International Journal of
Cancer. [IF=1.931, Cited=78, 25529843].
Manheimer KB, Richter F, Edelmann LJ, ..., Gelb BD (2018) Robust identification of mosaic variants in congenital heart
disease. Human Genetics. [IF=1.653, Cited=30, 29417219].
Kitzler TM, Schneider R, Kohl S, ..., Hildebrandt F (2019) COL4A1 mutations as a potential novel cause of autosomal
dominant CAKUT in humans. Human Genetics. [IF=1.653, Cited=10, 31230195].
Timberlake AT, Kiziltug E, Jin SC, ..., Lifton R (2022) De novo mutations in the BMP signaling pathway in lambdoid
craniosynostosis. Human Genetics. [IF=1.653, Cited=9, 35997807].
Scholl UI, Dave HB, Lu M, ..., Lifton R (2012) SeSAME/EAST syndrome--phenotypic variability and delayed activity of the
distal convoluted tubule. Pediatric Nephrology. [IF=1.316, Cited=30, 22907601].
Vivante A, Ityel H, Pode-Shakked B, ..., Hildebrandt F (2017) Exome sequencing in Jewish and Arab patients with
rhabdomyolysis reveals single-gene etiology in 43% of cases. Pediatric Nephrology. [IF=1.316, Cited=16, 28779239].
Spier I, Kerick M, Drichel D, ..., Aretz S (2016) Exome sequencing identifies potential novel candidate genes in
patients with unexplained colorectal adenomatous polyposis. Familial Cancer. [IF=1.011, Cited=27, 26780541].
Schueler M, Braun DA, Chandrasekar G, ..., Hildebrandt F (2014) DCDC2 mutations cause a renal-hepatic ciliopathy by
disrupting Wnt signaling. American Journal of Human Genetics. [IF=2.607, Cited=66, 25557784].
Chong JX, Buckingham KJ, Jhangiani SN, ..., Bamshad MJ (2015) The Genetic Basis of Mendelian Phenotypes: Discoveries,
Challenges, and Opportunities. American Journal of Human Genetics. [IF=2.607, Cited=358, 26166479].
Vivante A, Kleppa MJ, Schulz J, ..., Hildebrandt F (2015) Mutations in TBX18 Cause Dominant Urinary Tract Malformations
via Transcriptional Dysregulation of Ureter Development. American Journal of Human Genetics. [IF=2.607, Cited=45, 26235987].
Li N, Subrahmanyan L, Smith E, ..., Mani A (2016) Mutations in the Histone Modifier PRDM6 Are Associated with Isolated
Nonsyndromic Patent Ductus Arteriosus. American Journal of Human Genetics. [IF=2.607, Cited=19, 27181681].
Adam R, Spier I, Zhao B, ..., Aretz S (2016) Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a
Recessive Subtype of Colorectal Adenomatous Polyposis. American Journal of Human Genetics. [IF=2.607, Cited=118, 27476653].
Boyden LM, Vincent NG, Zhou J, ..., Choate KA (2017) Mutations in KDSR Cause Recessive Progressive Symmetric
Erythrokeratoderma. American Journal of Human Genetics. [IF=2.607, Cited=40, 28575652].
Sanna-Cherchi S, Khan K, Westland R, ..., Gharavi AG (2017) Exome-wide Association Study Identifies GREB1L Mutations in
Congenital Kidney Malformations. American Journal of Human Genetics. [IF=2.607, Cited=39, 29100090].
Choi YJ, Halbritter J, Braun DA, ..., Hildebrandt F (2019) Mutations of ADAMTS9 Cause Nephronophthisis-Related
Ciliopathy. American Journal of Human Genetics. [IF=2.607, Cited=18, 30609407].
Boyden LM, Atzmony L, Hamilton C, ..., Choate KA (2019) Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and
Photophobia. American Journal of Human Genetics. [IF=2.607, Cited=11, 31630788].
Mann N, Kause F, Henze EK, ..., Hildebrandt F (2019) CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor
Mutations. American Journal of Human Genetics. [IF=2.607, Cited=9, 31708116].
Boyden LM, Zhou J, Hu R, ..., Choate KA (2020) Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis. American
Journal of Human Genetics. [IF=2.607, Cited=7, 32516568].
Weng PL, Majmundar AJ, Khan K, ..., Sanna-Cherchi S (2021) De novo TRIM8 variants impair its protein localization to
nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. American Journal of
Human Genetics. [IF=2.607, Cited=12, 33508234].
Ishizawa K, Xu N, Loffing J, ..., Shibata S (2016) Potassium depletion stimulates Na-Cl cotransporter via
phosphorylation and inactivation of the ubiquitin ligase Kelch-like 3. Biochemical and Biophysical Research
Communications. [IF=0.643, Cited=26, 27942049].
Lifton R (2007) Lasker Award to heart valve pioneers. Cell. [IF=8.479, Cited=4, 17889638].
Vilarinho S, Lifton R (2016) Pioneering a Global Cure for Chronic Hepatitis C Virus Infection. Cell. [IF=8.479,
Cited=6, 27634325].
Shibata S, Ishizawa K, Wang Q, ..., Lifton R (2018) ULK1 Phosphorylates and Regulates Mineralocorticoid Receptor. Cell
Reports. [IF=1.738, Cited=16, 30021155].
Mao Y, Schneider R, van der Ven PFM, ..., Hildebrandt F (2020) Recessive Mutations in SYNPO2 as a Candidate of
Monogenic Nephrotic Syndrome. Kidney International Reports. [IF=1.267, Cited=5, 33615072].
Klämbt V, Mao Y, Schneider R, ..., Hildebrandt F (2020) Generation of Monogenic Candidate Genes for Human Nephrotic
Syndrome Using 3 Independent Approaches. Kidney International Reports. [IF=1.267, Cited=1, 33615071].
Craiglow BG, Boyden LM, Hu R, ..., Choate KA (2018) CARD14-associated papulosquamous eruption: A spectrum including
features of psoriasis and pityriasis rubra pilaris. Journal of the American Academy of Dermatology. [IF=1.982,
Cited=34, 29477734].
Edwards JJ, Rouillard AD, Fernandez NF, ..., Gelb BD (2020) Systems Analysis Implicates WAVE2 Complex in the
Pathogenesis of Developmental Left-Sided Obstructive Heart Defects. JACC: Basic to Translational Science. [IF=1.768,
Cited=11, 32368696].
Vilarinho S, Choi M, Jain D, ..., Mistry PK (2014) Individual exome analysis in diagnosis and management of paediatric
liver failure of indeterminate aetiology. Journal of Hepatology. [IF=5.444, Cited=32, 25016221].
Duchatelet S, Boyden LM, Ishida-Yamamoto A, ..., Hovnanian A (2018) Mutations in PERP Cause Dominant and Recessive
Keratoderma. None. [IF=None, Cited=7, 30321533].
Dong W, Wong KHY, Liu Y, ..., Pullinger CR (2022) Whole-exome sequencing reveals damaging gene variants associated with
hypoalphalipoproteinemia. Journal of Lipid Research. [IF=1.461, Cited=1, 35460704].
Shankaran S, Lin A, Maller-Kesselman J, ..., Ment LR (2014) Maternal race, demography, and health care disparities
impact risk for intraventricular hemorrhage in preterm neonates. Journal of Pediatrics. [IF=1.32, Cited=30, 24589078].
Daga A, Majmundar AJ, Braun DA, ..., Hildebrandt F (2017) Whole exome sequencing frequently detects a monogenic cause in
early onset nephrolithiasis and nephrocalcinosis. Kidney International. [IF=3.516, Cited=84, 28893421].
Connaughton DM, Kennedy C, Shril S, ..., Hildebrandt F (2019) Monogenic causes of chronic kidney disease in adults.
Kidney International. [IF=3.516, Cited=105, 30773290].
Jobst-Schwan T, Klämbt V, Tarsio M, ..., Hildebrandt F (2019) Whole exome sequencing identified ATP6V1C2 as a novel
candidate gene for recessive distal renal tubular acidosis. Kidney International. [IF=3.516, Cited=22, 31959358].
Furey CG, Choi J, Jin SC, ..., Kahle KT (2018) De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human
Congenital Hydrocephalus. Neuron. [IF=3.346, Cited=67, 29983323].
Furey CG, Zeng X, Dong W, ..., Kahle KT (2018) Human Genetics and Molecular Mechanisms of Congenital Hydrocephalus.
World Neurosurgery. [IF=1.032, Cited=6, 30205212].
Lifton R, Gharavi AG, Geller DS (2001) Molecular mechanisms of human hypertension. Cell. [IF=8.479, Cited=1000, 11239411].
Levinsohn JL, Tian LC, Boyden LM, ..., Choate KA (2012) Whole-exome sequencing reveals somatic mutations in HRAS and
KRAS, which cause nevus sebaceus. None. [IF=None, Cited=44, 23096712].
Levinsohn JL, Teng J, Craiglow BG, ..., Choate KA (2013) Somatic HRAS p.G12S mutation causes woolly hair and epidermal
nevi. None. [IF=None, Cited=19, 24129065].
Boyden LM, Craiglow BG, Zhou J, ..., Choate KA (2014) Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia
Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia. None. [IF=None, Cited=34, 25398053].
Braun DA, Schueler M, Halbritter J, ..., Hildebrandt F (2016) Whole exome sequencing identifies causative mutations in
the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. Kidney
International. [IF=3.516, Cited=54, 26489029].
Zhao S, Choi M, Heuck C, ..., Dhodapkar MV (2014) Serial exome analysis of disease progression in premalignant
gammopathies. Leukemia. [IF=2.198, Cited=41, 24496302].
Griesi-Oliveira K, Acab A, Gupta AR, ..., Muotri AR (2014) Modeling non-syndromic autism and the impact of TRPC6
disruption in human neurons. Molecular Psychiatry. [IF=2.603, Cited=124, 25385366].
Shungin D, Winkler TW, Croteau-Chonka DC, ..., Mohlke KL (2015) New genetic loci link adipose and insulin biology to
body fat distribution. Nature. [IF=11.591, Cited=898, 25673412].
Locke AE, Kahali B, Berndt SI, ..., Speliotes EK (2015) Genetic studies of body mass index yield new insights for
obesity biology. Nature. [IF=11.591, Cited=1000, 25673413].
Gee HY, Sadowski CE, Aggarwal PK, ..., Hildebrandt F (2016) FAT1 mutations cause a glomerulotubular nephropathy. Nature
Communications. [IF=3.268, Cited=68, 26905694].
McKean DM, Homsy J, Wakimoto H, ..., Seidman JG (2016) Loss of RNA expression and allele-specific expression associated
with congenital heart disease. Nature Communications. [IF=3.268, Cited=32, 27670201].
Ji W, Foo JN, O'Roak BJ, ..., Lifton R (2008) Rare independent mutations in renal salt handling genes contribute to
blood pressure variation. Nature Genetics. [IF=6.89, Cited=527, 18391953].
Goh G, Scholl UI, Healy JM, ..., Lifton R (2014) Recurrent activating mutation in PRKACA in cortisol-producing adrenal
tumors. Nature Genetics. [IF=6.89, Cited=127, 24747643].
Romberg N, Al Moussawi K, Nelson-Williams C, ..., Lifton R (2014) Mutation of NLRC4 causes a syndrome of enterocolitis
and autoinflammation. Nature Genetics. [IF=6.89, Cited=259, 25217960].
Kiryluk K, Li Y, Scolari F, ..., Gharavi AG (2014) Discovery of new risk loci for IgA nephropathy implicates genes
involved in immunity against intestinal pathogens. Nature Genetics. [IF=6.89, Cited=334, 25305756].
Krauthammer M, Kong Y, Bacchiocchi A, ..., Halaban R (2015) Exome sequencing identifies recurrent mutations in NF1 and
RASopathy genes in sun-exposed melanomas. Nature Genetics. [IF=6.89, Cited=213, 26214590].
Braun DA, Sadowski CE, Kohl S, ..., Hildebrandt F (2016) Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause
steroid-resistant nephrotic syndrome. Nature Genetics. [IF=6.89, Cited=104, 26878725].
Braun DA, Rao J, Mollet G, ..., Hildebrandt F (2017) Mutations in KEOPS-complex genes cause nephrotic syndrome with
primary microcephaly. Nature Genetics. [IF=6.89, Cited=107, 28805828].
Jin SC, Homsy J, Zaidi S, ..., Brueckner M (2017) Contribution of rare inherited and de novo variants in 2,871
congenital heart disease probands. Nature Genetics. [IF=6.89, Cited=412, 28991257].
Ment LR, Adén U, Lin A, ..., Bauer CR (2013) Gene-environment interactions in severe intraventricular hemorrhage of
preterm neonates. Pediatric Research. [IF=1.273, Cited=23, 24192699].
Posey JE, O'Donnell-Luria AH, Chong JX, ..., Lupski JR (2019) Insights into genetics, human biology and disease gleaned
from family based genomic studies. Genetics in Medicine. [IF=2.761, Cited=103, 30655598].
Timberlake AT, Wu R, Nelson-Williams C, ..., Lifton R (2018) Co-occurrence of frameshift mutations in SMAD6 and
TCF12 in a child with complex craniosynostosis. Human Genome Variation. [IF=0.713, Cited=11, 30038786].
Ashraf S, Kudo H, Rao J, ..., Hildebrandt F (2018) Mutations in six nephrosis genes delineate a pathogenic pathway
amenable to treatment. Nature Communications. [IF=3.268, Cited=57, 29773874].
Scholl UI, Stölting G, Schewe J, ..., Lifton R (2018) CLCN2 chloride channel mutations in familial hyperaldosteronism
type II. Nature Genetics. [IF=6.89, Cited=105, 29403011].
Jin SC, Lewis SA, Bakhtiari S, ..., Kruer MC (2020) Mutations disrupting neuritogenesis genes confer risk for cerebral
palsy. Nature Genetics. [IF=6.89, Cited=60, 32989326].
Jin SC, Lewis SA, Bakhtiari S, ..., Kruer MC (2021) Author Correction: Mutations disrupting neuritogenesis genes confer
risk for cerebral palsy. Nature Genetics. [IF=6.89, Cited=0, 33432185].
Park AY, Leney-Greene M, Lynberg M, ..., Lenardo MJ (2024) GIMAP5 deficiency reveals a mammalian ceramide-driven
longevity assurance pathway. Nature Immunology. [IF=4.23, Cited=1, 38172257].
Park AY, Leney-Greene M, Lynberg M, ..., Lenardo MJ (2024) Author Correction: GIMAP5 deficiency reveals a mammalian
ceramide-driven longevity assurance pathway. Nature Immunology. [IF=4.23, Cited=0, 38347083].
Jin SC, Dong W, Kundishora AJ, ..., Kahle KT (2020) Exome sequencing implicates genetic disruption of prenatal neuro-
gliogenesis in sporadic congenital hydrocephalus. Nature Medicine. [IF=11.877, Cited=61, 33077954].
Ogishi M, Yang R, Aytekin C, ..., Casanova JL (2021) Inherited PD-1 deficiency underlies tuberculosis and autoimmunity
in a child. Nature Medicine. [IF=11.877, Cited=51, 34183838].
Meyers N, Nelson-Williams C, Malaga-Dieguez L, ..., Trachtman H (2018) Hypokalemia Associated With a Claudin 10
Mutation: A Case Report. American Journal of Kidney Diseases. [IF=3.526, Cited=19, 30482581].
Ment LR, Ådén U, Bauer CR, ..., Zhang H (2015) Genes and environment in neonatal intraventricular hemorrhage. Seminars
in Perinatology. [IF=1.411, Cited=23, 26516117].
Sanna-Cherchi S, Sampogna RV, Papeta N, ..., Gharavi AG (2013) Mutations in DSTYK and dominant urinary tract
malformations. New England Journal of Medicine. [IF=17.194, Cited=75, 23862974].
Keramati AR, Fathzadeh M, Go GW, ..., Mani A (2014) A form of the metabolic syndrome associated with mutations in
DYRK1B. New England Journal of Medicine. [IF=17.194, Cited=78, 24827035].
Lopez-Rivera E, Liu YP, Verbitsky M, ..., Sanna-Cherchi S (2017) Genetic Drivers of Kidney Defects in the DiGeorge
Syndrome. New England Journal of Medicine. [IF=17.194, Cited=83, 28121514].
Kahle KT, Gimenez I, Hassan H, ..., Lifton R (2004) WNK4 regulates apical and basolateral Cl- flux in extrarenal
epithelia. Proceedings of the National Academy of Sciences of the United States of America. [IF=2.765, Cited=116, 14769928].
Gharavi AG, Ahmad T, Wong RD, ..., Lifton R (2004) Mapping a locus for susceptibility to HIV-1-associated nephropathy to
mouse chromosome 3. Proceedings of the National Academy of Sciences of the United States of America. [IF=2.765,
Cited=70, 14983036].
Kahle KT, Macgregor GG, Wilson FH, ..., Lifton R (2004) Paracellular Cl- permeability is regulated by WNK4 kinase:
insight into normal physiology and hypertension. Proceedings of the National Academy of Sciences of the United States of
America. [IF=2.765, Cited=115, 15465913].
Mani A, Radhakrishnan J, Farhi A, ..., Lifton R (2005) Syndromic patent ductus arteriosus: evidence for
haploinsufficient TFAP2B mutations and identification of a linked sleep disorder. Proceedings of the National Academy of
Sciences of the United States of America. [IF=2.765, Cited=49, 15684060].
Finberg KE, Wagner CA, Bailey MA, ..., Lifton R (2005) The B1-subunit of the H(+) ATPase is required for maximal urinary
acidification. Proceedings of the National Academy of Sciences of the United States of America. [IF=2.765, Cited=98, 16174750].
Rinehart J, Kahle KT, de Los Heros P, ..., Lifton R (2005) WNK3 kinase is a positive regulator of NKCC2 and NCC, renal
cation-Cl- cotransporters required for normal blood pressure homeostasis. Proceedings of the National Academy of
Sciences of the United States of America. [IF=2.765, Cited=131, 16275913].
Kahle KT, Rinehart J, de Los Heros P, ..., Lifton R (2005) WNK3 modulates transport of Cl- in and out of cells:
implications for control of cell volume and neuronal excitability. Proceedings of the National Academy of Sciences of
the United States of America. [IF=2.765, Cited=143, 16275911].
Ring AM, Cheng SX, Leng Q, ..., Lifton R (2007) WNK4 regulates activity of the epithelial Na+ channel in vitro and in
vivo. Proceedings of the National Academy of Sciences of the United States of America. [IF=2.765, Cited=95, 17360470].
Ring AM, Leng Q, Rinehart J, ..., Lifton R (2007) An SGK1 site in WNK4 regulates Na+ channel and K+ channel activity and
has implications for aldosterone signaling and K+ homeostasis. Proceedings of the National Academy of Sciences of the
United States of America. [IF=2.765, Cited=103, 17360471].
Brownstein CA, Adler F, Nelson-Williams C, ..., Lifton R (2008) A translocation causing increased alpha-klotho level
results in hypophosphatemic rickets and hyperparathyroidism. Proceedings of the National Academy of Sciences of the
United States of America. [IF=2.765, Cited=129, 18308935].
State MW, Greally JM, Cuker A, ..., Ward DC (2003) Epigenetic abnormalities associated with a chromosome 18(q21-q22)
inversion and a Gilles de la Tourette syndrome phenotype. Proceedings of the National Academy of Sciences of the United
States of America. [IF=2.765, Cited=39, 12682296].
Scholl UI, Choi M, Liu T, ..., Lifton R (2009) Seizures, sensorineural deafness, ataxia, mental retardation, and
electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. Proceedings of the National Academy of Sciences
of the United States of America. [IF=2.765, Cited=284, 19289823].
Yue P, Lin DH, Pan CY, ..., Wang WH (2009) Src family protein tyrosine kinase (PTK) modulates the effect of SGK1 and
WNK4 on ROMK channels. Proceedings of the National Academy of Sciences of the United States of America. [IF=2.765,
Cited=25, 19706464].
Hadchouel J, Soukaseum C, Büsst C, ..., Jeunemaitre X (2010) Decreased ENaC expression compensates the increased NCC
activity following inactivation of the kidney-specific isoform of WNK1 and prevents hypertension. Proceedings of the
National Academy of Sciences of the United States of America. [IF=2.765, Cited=72, 20921400].
Barbee SD, Woodward MJ, Turchinovich G, ..., Hayday AC (2011) Skint-1 is a highly specific, unique selecting component
for epidermal T cells. Proceedings of the National Academy of Sciences of the United States of America. [IF=2.765,
Cited=102, 21300860].
Keramati AR, Singh R, Lin A, ..., Mani A (2011) Wild-type LRP6 inhibits, whereas atherosclerosis-linked LRP6R611C
increases PDGF-dependent vascular smooth muscle cell proliferation. Proceedings of the National Academy of Sciences of
the United States of America. [IF=2.765, Cited=48, 21245321].
Yasuno K, Bakırcıoğlu M, Low SK, ..., Günel M (2011) Common variant near the endothelin receptor type A (EDNRA) gene is
associated with intracranial aneurysm risk. Proceedings of the National Academy of Sciences of the United States of
America. [IF=2.765, Cited=71, 22106312].
Scholl UI, Nelson-Williams C, Yue P, ..., Lifton R (2012) Hypertension with or without adrenal hyperplasia due to
different inherited mutations in the potassium channel KCNJ5. Proceedings of the National Academy of Sciences of the
United States of America. [IF=2.765, Cited=141, 22308486].
Zhao S, Choi M, Overton JD, ..., Santin AD (2013) Landscape of somatic single-nucleotide and copy-number mutations in
uterine serous carcinoma. Proceedings of the National Academy of Sciences of the United States of America. [IF=2.765,
Cited=202, 23359684].
Gunel M, Laurans MSH, Shin D, ..., Lifton R (2002) KRIT1, a gene mutated in cerebral cavernous malformation, encodes a
microtubule-associated protein. Proceedings of the National Academy of Sciences of the United States of America.
[IF=2.765, Cited=72, 12140362].
Shibata S, Arroyo JP, Castañeda-Bueno M, ..., Lifton R (2014) Angiotensin II signaling via protein kinase C
phosphorylates Kelch-like 3, preventing WNK4 degradation. Proceedings of the National Academy of Sciences of the United
States of America. [IF=2.765, Cited=60, 25313067].
Cromer MK, Choi M, Nelson-Williams C, ..., Lifton R (2015) Neomorphic effects of recurrent somatic mutations in Yin Yang
1 in insulin-producing adenomas. Proceedings of the National Academy of Sciences of the United States of America.
[IF=2.765, Cited=31, 25787250].
Vilarinho S, Sari S, Mazzacuva F, ..., Lifton R (2016) ACOX2 deficiency: A disorder of bile acid synthesis with
transaminase elevation, liver fibrosis, ataxia, and cognitive impairment. Proceedings of the National Academy of
Sciences of the United States of America. [IF=2.765, Cited=41, 27647924].
Zhao S, Bellone S, Lopez S, ..., Santin AD (2016) Mutational landscape of uterine and ovarian carcinosarcomas implicates
histone genes in epithelial-mesenchymal transition. Proceedings of the National Academy of Sciences of the United States
of America. [IF=2.765, Cited=126, 27791010].
Castañeda-Bueno M, Arroyo JP, Zhang J, ..., Lifton R (2017) Phosphorylation by PKC and PKA regulate the kinase activity
and downstream signaling of WNK4. Proceedings of the National Academy of Sciences of the United States of America.
[IF=2.765, Cited=31, 28096417].
Timberlake AT, Furey CG, Choi J, ..., Lifton R (2017) De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling
pathways in non-syndromic midline craniosynostosis. Proceedings of the National Academy of Sciences of the United States
of America. [IF=2.765, Cited=51, 28808027].
Robson A, Makova SZ, Barish S, ..., Brueckner M (2019) Histone H2B monoubiquitination regulates heart development via
epigenetic control of cilia motility. Proceedings of the National Academy of Sciences of the United States of America.
[IF=2.765, Cited=21, 31235600].
Timberlake AT, Jin SC, Nelson-Williams C, ..., Lifton R (2019) Mutations in TFAP2B and previously unimplicated
genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis. Proceedings of the National Academy of
Sciences of the United States of America. [IF=2.765, Cited=14, 31292255].
Kerner G, Bouaziz M, Cobat A, ..., Abel L (2020) A genome-wide case-only test for the detection of digenic inheritance
in human exomes. Proceedings of the National Academy of Sciences of the United States of America. [IF=2.765, Cited=8, 32719112].
Mani A, Meraji SM, Houshyar R, ..., Lifton R (2002) Finding genetic contributions to sporadic disease: a recessive locus
at 12q24 commonly contributes to patent ductus arteriosus. Proceedings of the National Academy of Sciences of the United
States of America. [IF=2.765, Cited=51, 12409608].
Seidel E, Schewe J, Zhang J, ..., Scholl UI (2021) Enhanced Ca²⁺ signaling, mild primary aldosteronism, and
hypertension in a familial hyperaldosteronism mouse model (Cacna1h^M1560V/+ ). Proceedings of
the National Academy of Sciences of the United States of America. [IF=2.765, Cited=5, 33879608].
Manry J, Bastard P, Gervais A, ..., Cobat A (2022) The risk of COVID-19 death is much greater and age dependent with
type I IFN autoantibodies. Proceedings of the National Academy of Sciences of the United States of America. [IF=2.765,
Cited=92, 35576468].
Choate KA, Kahle KT, Wilson FH, ..., Lifton R (2003) WNK1, a kinase mutated in inherited hypertension with hyperkalemia,
localizes to diverse Cl- -transporting epithelia. Proceedings of the National Academy of Sciences of the United States
of America. [IF=2.765, Cited=82, 12522152].
Wilson FH, Kahle KT, Sabath E, ..., Lifton R (2003) Molecular pathogenesis of inherited hypertension with hyperkalemia:
the Na-Cl cotransporter is inhibited by wild-type but not mutant WNK4. Proceedings of the National Academy of Sciences
of the United States of America. [IF=2.765, Cited=273, 12515852].
Günel M, Awad IA, Anson J, Lifton R (1995) Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21.
Proceedings of the National Academy of Sciences of the United States of America. [IF=2.765, Cited=82, 7604043].
Lifton R (1995) Genetic determinants of human hypertension. Proceedings of the National Academy of Sciences of the
United States of America. [IF=2.765, Cited=84, 7567973].
Hansson JH, Schild L, Lu Y, ..., Lifton R (1995) 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. Proceedings of the National Academy of Sciences of the United States of America. [IF=2.765,
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Karet FE, Gainza FJ, Györy AZ, ..., Lifton R (1998) Mutations in the chloride-bicarbonate exchanger gene AE1 cause
autosomal dominant but not autosomal recessive distal renal tubular acidosis. Proceedings of the National Academy of
Sciences of the United States of America. [IF=2.765, Cited=138, 9600966].
Shimkets RA, Lifton R, Canessa CM (1998) In vivo phosphorylation of the epithelial sodium channel. Proceedings of the
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syndrome. Nephrology Dialysis Transplantation. [IF=1.566, Cited=18, 29534211].
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Spring Harbor Symposia on Quantitative Biology. [IF=0.889, Cited=24, 12858570].
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and cause glomerulopathy in humans and mice. Science advances. [IF=2.861, Cited=11, 33523862].
Wilson FH, Disse-Nicodème S, Choate KA, ..., Lifton R (2001) Human hypertension caused by mutations in WNK kinases.
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Wilson FH, Hariri A, Farhi A, ..., Lifton R (2004) A cluster of metabolic defects caused by mutation in a mitochondrial
tRNA. Science. [IF=7.729, Cited=200, 15498972].
Abelson JF, Kwan KY, O'Roak BJ, ..., State MW (2005) Sequence variants in SLITRK1 are associated with Tourette's
syndrome. Science. [IF=7.729, Cited=572, 16224024].
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metabolic risk factors. Science. [IF=7.729, Cited=394, 17332414].
Choate KA, Lu Y, Zhou J, ..., Lifton R (2010) Mitotic recombination in patients with ichthyosis causes reversion of
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Mg2+ resorption. Science. [IF=7.729, Cited=586, 10390358].
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exacerbated by pregnancy. Science. [IF=7.729, Cited=286, 10884226].
Homsy J, Zaidi S, Shen Y, ..., Chung WK (2015) De novo mutations in congenital heart disease with neurodevelopmental and
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Zhang Q, Bastard P, Liu Z, ..., Casanova JL (2020) Inborn errors of type I IFN immunity in patients with life-
threatening COVID-19. Science. [IF=7.729, Cited=1000, 32972995].
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~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths. Science
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cause of a ciliopathy phenotype. Journal of Medical Genetics. [IF=1.598, Cited=24, 26275418].
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caused by a novel SIGMAR1 c.500A>T missense mutation. Journal of Medical Genetics. [IF=1.598, Cited=9, 31511340].
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Mutated and MSH6 Hyper-Mutated Endometrial Tumors with Nivolumab. Clinical Cancer Research. [IF=2.156, Cited=82, 27486176].
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Zhao B, Lu Q, Cheng Y, ..., Parikh CR (2017) A Genome-Wide Association Study to Identify Single-Nucleotide Polymorphisms
for Acute Kidney Injury. American Journal of Respiratory and Critical Care Medicine. [IF=4.582, Cited=22, 27576016].
Scholl UI, Abriola L, Zhang C, ..., Lifton R (2017) Macrolides selectively inhibit mutant KCNJ5 potassium channels that
cause aldosterone-producing adenoma. Journal of Clinical Investigation. [IF=2.423, Cited=39, 28604387].
Rao J, Ashraf S, Tan W, ..., Hildebrandt F (2017) Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant
nephrotic syndrome. Journal of Clinical Investigation. [IF=2.423, Cited=29, 29058690].
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Stölting G, Dinh HA, Volkert M, ..., Scholl UI (2023) Isradipine therapy in Cacna1dIle772Met/+ mice ameliorates primary
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diagnosis of glucocorticoid-remediable aldosteronism. Journal of Clinical Endocrinology and Metabolism. [IF=1.766,
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Elfert KA, Geller DS, Nelson-Williams C, ..., Nauman A (2020) Late-Onset Bartter Syndrome Type II Due to a Homozygous
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Publication with MISMATCHING institution:

Morton SU, Shimamura A, Newburger PE, ..., Seidman CE (2021) Association of Damaging Variants in Genes With Increased
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Connaughton DM, Dai R, Owen DJ, ..., Hildebrandt F (2020) Mutations of the Transcriptional Corepressor ZMYM2 Cause
Syndromic Urinary Tract Malformations. American Journal of Human Genetics. [IF=2.607, Cited=17, 32891193].
Schneider R, Deutsch K, Hoeprich GJ, ..., Hildebrandt F (2020) DAAM2 Variants Cause Nephrotic Syndrome via Actin
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Timberlake AT, McGee S, Allington G, ..., Kruszka P (2023) De novo variants implicate chromatin modification,
transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis. American Journal of Human
Genetics. [IF=2.607, Cited=4, 37086723].
Willsey AJ, Morris MT, Wang S, ..., Krogan NJ (2018) The Psychiatric Cell Map Initiative: A Convergent Systems
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by disrupting asymmetrically dividing neural progenitors. Neuron. [IF=3.346, Cited=64, 25521378].
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pulmonary fibrosis and telomere shortening. Nature Genetics. [IF=6.89, Cited=274, 25848748].
Choi J, Goh G, Walradt T, ..., Lifton R (2015) Genomic landscape of cutaneous T cell lymphoma. Nature Genetics.
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Choi M, Scholl UI, Ji W, ..., Lifton R (2009) Genetic diagnosis by whole exome capture and massively parallel DNA
sequencing. Proceedings of the National Academy of Sciences of the United States of America. [IF=2.765, Cited=776, 19861545].
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identify unique genes in left-right patterning. Proceedings of the National Academy of Sciences of the United States of
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leads to early-onset progressive neurodegeneration. Proceedings of the National Academy of Sciences of the United States
of America. [IF=2.765, Cited=106, 23359680].
Shibata S, Zhang J, Puthumana J, ..., Lifton R (2013) Kelch-like 3 and Cullin 3 regulate electrolyte homeostasis via
ubiquitination and degradation of WNK4. Proceedings of the National Academy of Sciences of the United States of America.
[IF=2.765, Cited=155, 23576762].
Zhang C, Wang L, Zhang J, ..., Wang WH (2014) KCNJ10 determines the expression of the apical Na-Cl cotransporter (NCC)
in the early distal convoluted tubule (DCT1). Proceedings of the National Academy of Sciences of the United States of
America. [IF=2.765, Cited=95, 25071208].
Lin DH, Yue P, Yarborough O, ..., Wang WH (2015) Src-family protein tyrosine kinase phosphorylates WNK4 and modulates
its inhibitory effect on KCNJ1 (ROMK). Proceedings of the National Academy of Sciences of the United States of America.
[IF=2.765, Cited=12, 25805816].
Zhao ZM, Zhao B, Bai Y, ..., Townsend JP (2016) Early and multiple origins of metastatic lineages within primary tumors.
Proceedings of the National Academy of Sciences of the United States of America. [IF=2.765, Cited=92, 26858460].
Bi M, Zhao S, Said JW, ..., Shuch B (2016) Genomic characterization of sarcomatoid transformation in clear cell renal
cell carcinoma. Proceedings of the National Academy of Sciences of the United States of America. [IF=2.765, Cited=69, 26864202].
Li C, Bonazzoli E, Bellone S, ..., Santin AD (2018) Mutational landscape of primary, metastatic, and recurrent ovarian
cancer reveals c-MYC gains as potential target for BET inhibitors. Proceedings of the National Academy of Sciences of
the United States of America. [IF=2.765, Cited=38, 30584090].
Ishizawa K, Wang Q, Li J, ..., Shibata S (2019) Calcineurin dephosphorylates Kelch-like 3, reversing phosphorylation by
angiotensin II and regulating renal electrolyte handling. Proceedings of the National Academy of Sciences of the United
States of America. [IF=2.765, Cited=29, 30718414].
Zammataro L, Lopez S, Bellone S, ..., Santin AD (2019) Whole-exome sequencing of cervical carcinomas identifies
activating ERBB2 and PIK3CA mutations as targets for combination therapy. Proceedings of the National Academy of
Sciences of the United States of America. [IF=2.765, Cited=35, 31624127].
Choi J, Manzano A, Dong W, ..., Santin AD (2021) Integrated mutational landscape analysis of uterine leiomyosarcomas.
Proceedings of the National Academy of Sciences of the United States of America. [IF=2.765, Cited=37, 33876771].
Mishra-Gorur K, Barak T, Kaulen LD, ..., Gunel M (2023) Pleiotropic role of TRAF7 in skull-base meningiomas and
congenital heart disease. Proceedings of the National Academy of Sciences of the United States of America. [IF=2.765,
Cited=7, 37043537].
DeSpenza T, Singh A, Allington G, ..., Luikart BW (2024) Pathogenic variants in autism gene KATNAL2 cause
hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics. Proceedings of the National
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Mishra-Gorur K, Barak T, Kaulen LD, ..., Gunel M (2024) Reply to Pisan et al.: Pathogenicity of inherited TRAF7
mutations in congenital heart disease. Proceedings of the National Academy of Sciences of the United States of America.
[IF=2.765, Cited=0, 38466853].
Schild L, Canessa CM, Shimkets RA, ..., Rossier BC (1995) A mutation in the epithelial sodium channel causing Liddle
disease increases channel activity in the Xenopus laevis oocyte expression system. Proceedings of the National Academy
of Sciences of the United States of America. [IF=2.765, Cited=158, 7777572].
Drzewiecki K, Choi J, Brancale J, ..., Vilarinho S (2021) GIMAP5 maintains liver endothelial cell homeostasis and
prevents portal hypertension. Journal of Experimental Medicine. [IF=2.235, Cited=12, 33956074].
Ridker PM, Enders GH, Lifton R (1990) False positive mononucleosis screening test results associated with Klebsiella
hepatic abscess. American Journal of Clinical Pathology. [IF=1.099, Cited=3, 2371976].
Singh AK, Allington G, Viviano S, ..., Kahle KT (2024) A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic
dysregulation in human hydrocephalus. Brain. [IF=3.147, Cited=1, 38128548].
Duy PQ, Jux B, Zhao S, ..., Kahle KT (2024) TRIM71 mutations cause a neurodevelopmental syndrome featuring
ventriculomegaly and hydrocephalus. Brain. [IF=3.147, Cited=0, 38833623].
Duy PQ, Timberlake AT, Lifton R, Kahle KT (2023) Molecular genetics of human developmental neurocranial anomalies:
towards "precision surgery". Cerebral Cortex. [IF=1.159, Cited=2, 35739418].
Kunstman JW, Juhlin CC, Goh G, ..., Carling T (2015) Characterization of the mutational landscape of anaplastic thyroid
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Boyden LM, Kam CY, Hernández-Martín A, ..., Choate KA (2015) Dominant de novo DSP mutations cause erythrokeratodermia-
cardiomyopathy syndrome. Human Molecular Genetics. [IF=1.158, Cited=21, 26604139].
Lifton R, Jeunemaitre X (1993) Finding genes that cause human hypertension. Journal of Hypertension. [IF=1.506,
Cited=12, 8387080].
Günel M, Awad IA, Finberg K, ..., Lifton R (1996) Genetic heterogeneity of inherited cerebral cavernous malformation.
Neurosurgery. [IF=2.325, Cited=65, 8727164].
Lifton R (1993) Genetic factors in hypertension. Current Opinion in Nephrology and Hypertension. [IF=0.917, Cited=6, 7922185].
Timberlake AT, Junn A, Flores R, ..., Persing JA (2022) Genetic Influence on Neurodevelopment in Nonsyndromic
Craniosynostosis. Plastic and Reconstructive Surgery. [IF=1.935, Cited=9, 35286293].
Hwang JY, Chai P, Nawaz S, ..., Chung JJ (2023) LRRC23 truncation impairs radial spoke 3 head assembly and sperm
motility underlying male infertility. None. [IF=None, Cited=0, 36865175].
Stenman A, Juhlin CC, Haglund F, ..., Carling T (2015) Absence of KMT2D/MLL2 mutations in abdominal paraganglioma.
Clinical Endocrinology. [IF=1.216, Cited=2, 26303934].
Dong W, Baldwin C, Choi J, ..., Milunsky A (2019) Identification of a dominant MYH11 causal variant in chronic
intestinal pseudo-obstruction: Results of whole-exome sequencing. Clinical Genetics. [IF=1.39, Cited=17, 31389005].
Clark VE, Erson-Omay EZ, Serin A, ..., Günel M (2013) Genomic analysis of non-NF2 meningiomas reveals mutations in
TRAF7, KLF4, AKT1, and SMO. Science. [IF=7.729, Cited=479, 23348505].
Asano T, Boisson B, Onodi F, ..., Casanova JL (2021) X-linked recessive TLR7 deficiency in ~1% of men under 60 years old
with life-threatening COVID-19. Science immunology. [IF=3.246, Cited=213, 34413140].
Calpena E, Wurmser M, McGowan SJ, ..., Wilkie AOM (2021) Unexpected role of SIX1 variants in craniosynostosis:
expanding the phenotype of SIX1-related disorders. Journal of Medical Genetics. [IF=1.598, Cited=4, 33436522].
Kahle KT, Ring AM, Lifton R (2008) Molecular physiology of the WNK kinases. Annual Review of Physiology. [IF=4.535,
Cited=145, 17961084].
Bubien JK, Ismailov II, Berdiev BK, ..., Warnock DG (1996) Liddle's disease: abnormal regulation of amiloride-sensitive
Na+ channels by beta-subunit mutation. None. [IF=None, Cited=27, 8772446].
Ismailov II, Berdiev BK, Fuller CM, ..., Benos DJ (1996) Peptide block of constitutively activated Na+ channels in
Liddle's disease. None. [IF=None, Cited=7, 8772447].
Kahle KT, Rinehart J, Ring A, ..., Lifton R (2006) WNK protein kinases modulate cellular Cl- flux by altering the
phosphorylation state of the Na-K-Cl and K-Cl cotransporters. Physiology. [IF=2.212, Cited=76, 16990453].
Epstein ND, Fananapazir L, Lin HJ, ..., Leppert M (1992) Evidence of genetic heterogeneity in five kindreds with
familial hypertrophic cardiomyopathy. Circulation. [IF=6.144, Cited=36, 1735158].
Lifton R, Hopkins PN, Williams RR, ..., Dluhy RG (1989) Evidence for heritability of non-modulating essential
hypertension. Hypertension. [IF=2.252, Cited=31, 2737726].
Lifton R, Hunt SC, Williams RR, ..., Lalouel JM (1991) Exclusion of the Na(+)-H+ antiporter as a candidate gene in human
essential hypertension. Hypertension. [IF=2.252, Cited=76, 1846121].
Williams RR, Hunt SC, Hasstedt SJ, ..., Lifton R (1991) Are there interactions and relations between genetic and
environmental factors predisposing to high blood pressure? Hypertension. [IF=2.252, Cited=57, 1889856].
Williams GH, Dluhy RG, Lifton R, ..., Hollenberg NK (1992) Non-modulation as an intermediate phenotype in essential
hypertension. Hypertension. [IF=2.252, Cited=63, 1452294].
Levy D, DeStefano AL, Larson MG, ..., Myers RH (2000) 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.
Hypertension. [IF=2.252, Cited=325, 11040222].
Cruz DN, Simon DB, Nelson-Williams C, ..., Lifton R (2001) Mutations in the Na-Cl cotransporter reduce blood pressure in
humans. Hypertension. [IF=2.252, Cited=105, 11408395].
Morton SU, Pereira AC, Quiat D, ..., Seidman CE (2022) Genome-Wide De Novo Variants in Congenital Heart Disease Are Not
Associated With Maternal Diabetes or Obesity. Circulation. Genomic and precision medicine. [IF=1.275, Cited=6, 35130025].
Seidelmann SB, Smith E, Subrahmanyan L, ..., Mani A (2017) Application of Whole Exome Sequencing in the Clinical
Diagnosis and Management of Inherited Cardiovascular Diseases in Adults. None. [IF=None, Cited=25, 28087566].
Warejko JK, Schueler M, Vivante A, ..., Hildebrandt F (2018) Whole Exome Sequencing Reveals a Monogenic Cause of Disease
in ≈43% of 35 Families With Midaortic Syndrome. Hypertension. [IF=2.252, Cited=10, 29483232].
Lo SM, Choi M, Liu J, ..., Mistry PK (2012) Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis
of Gaucher disease/hematologic malignancy phenotype by individual genome analysis. Blood. [IF=2.983, Cited=19, 22493294].
Walker S, Wang C, Walradt T, ..., Choi J (2015) Identification of a gain-of-function STAT3 mutation (p.Y640F) in
lymphocytic variant hypereosinophilic syndrome. Blood. [IF=2.983, Cited=29, 26702067].
Gupta AR, Pirruccello M, Cheng F, ..., State MW (2014) Rare deleterious mutations of the gene EFR3A in autism spectrum
disorders. Molecular Autism. [IF=1.69, Cited=21, 24860643].
Hsieh A, Morton SU, Willcox JAL, ..., Shen Y (2020) EM-mosaic detects mosaic point mutations that contribute to
congenital heart disease. Genome Medicine. [IF=2.422, Cited=13, 32349777].
Cromer MK, Starker LF, Choi M, ..., Carling T (2012) Identification of somatic mutations in parathyroid tumors using
whole-exome sequencing. Journal of Clinical Endocrinology and Metabolism. [IF=1.766, Cited=92, 22740705].
Nicolson NG, Murtha TD, Dong W, ..., Carling T (2018) Comprehensive Genetic Analysis of Follicular Thyroid Carcinoma
Predicts Prognosis Independent of Histology. Journal of Clinical Endocrinology and Metabolism. [IF=1.766, Cited=36, 29726952].
Lifton R (1976) From analysis to formation: towards a shift in psychological paradigm. None. [IF=None, Cited=3, 65347].
Ahram DF, Lim TY, Ke J, ..., Sanna-Cherchi S (2023) Rare Single Nucleotide and Copy Number Variants and the Etiology of
Congenital Obstructive Uropathy: Implications for Genetic Diagnosis. Journal of the American Society of Nephrology :
JASN. [IF=2.771, Cited=3, 36995132].
Wang M, Chun J, Genovese G, ..., Pollak MR (2019) Contributions of Rare Gene Variants to Familial and Sporadic FSGS.
Journal of the American Society of Nephrology : JASN. [IF=2.771, Cited=28, 31308072].
Goh G, Walradt T, Markarov V, ..., Choi J (2016) Mutational landscape of MCPyV-positive and MCPyV-negative Merkel cell
carcinomas with implications for immunotherapy. Oncotarget. [IF=0.666, Cited=180, 26655088].
Manry J, Bastard P, Gervais A, ..., Cobat A (2022) The risk of COVID-19 death is much greater and age-dependent with
type I IFN autoantibodies. None. [IF=None, Cited=0, 35043109].
Mele C, Lemaire M, Iatropoulos P, ..., Noris M (2015) Characterization of a New DGKE Intronic Mutation in Genetically
Unsolved Cases of Familial Atypical Hemolytic Uremic Syndrome. Clinical journal of the American Society of Nephrology :
CJASN. [IF=2.216, Cited=32, 25854283].
Timberlake AT, Hemal K, Gustafson JA, ..., Persing JA (2024) AXIN1 mutations in nonsyndromic craniosynostosis. Journal
of Neurosurgery: Pediatrics. [IF=1.209, Cited=0, 38905707].
Hwang JY, Nawaz S, Choi J, ..., Chung JJ (2021) Genetic Defects in DNAH2 Underlie Male Infertility With Multiple
Morphological Abnormalities of the Sperm Flagella in Humans and Mice. Frontiers in Cell and Developmental Biology.
[IF=0.995, Cited=13, 33968937].
Gauhar Z, Tejwani L, Abdullah U, ..., Raja GK (2022) A Novel Missense Mutation in ERCC8 Co-Segregates with
Cerebellar Ataxia in a Consanguineous Pakistani Family. Cells. [IF=1.213, Cited=1, 36231052].
Hwang JY, Chai P, Nawaz S, ..., Chung JJ (2023) LRRC23 truncation impairs radial spoke 3 head assembly and sperm
motility underlying male infertility. eLife. [IF=1.743, Cited=1, 38091523].
Lifton R, Dluhy RG, Powers M, ..., Lalouel JM (1992) The molecular basis of glucocorticoid-remediable aldosteronism, a
Mendelian cause of human hypertension. None. [IF=None, Cited=0, 1309006].
Lifton R (1990) Genetic linkage with candidate genes in human essential hypertension. None. [IF=None, Cited=0, 1966742].
Lifton R (1996) The psychology of violence. None. [IF=None, Cited=0, 8775137].

Publication with MISSING institution:

Lifton R (1971) Protean man. None. [IF=None, Cited=5, 5551562].
Morgan TM, Krumholz HM, Lifton R, Spertus JA (2007) Nonvalidation of reported genetic risk factors for acute coronary
syndrome in a large-scale replication study. None. [IF=None, Cited=166, 17426274].
Broder K, Reinhardt E, Ahern J, ..., Pober B (1999) Elevated ambulatory blood pressure in 20 subjects with Williams
syndrome. None. [IF=None, Cited=35, 10232742].
Woodlock TJ, Lifton R, DiSalle M (1998) Coincident acute myelogenous leukemia and ischemic heart disease: use of the
cardioprotectant dexrazoxane during induction chemotherapy. American Journal of Hematology. [IF=2.714, Cited=4, 9798665].
Bilguvar K, Ozturk AK, Bayrakli F, ..., Gunel M (2009) The syndrome of pachygyria, mental retardation, and arachnoid
cysts maps to 11p15. American Journal of Medical Genetics, Part A. [IF=1.165, Cited=5, 19876906].
Bamshad MJ, Shendure J, Shendure JA, ..., Nickerson DA (2012) The Centers for Mendelian Genomics: a new large-scale
initiative to identify the genes underlying rare Mendelian conditions. American Journal of Medical Genetics, Part A.
[IF=1.165, Cited=82, 22628075].
Russell JF, Steckley JL, Coppola G, ..., Ptáček LJ (2012) Familial cortical myoclonus with a mutation in NOL3. Annals of
Neurology. [IF=2.769, Cited=17, 22926851].
Starker LF, Svedlund J, Udelsman R, ..., Carling T (2011) The DNA methylome of benign and malignant parathyroid tumors.
Genes Chromosomes and Cancer. [IF=1.173, Cited=38, 21638518].
Fonseca AL, Kugelberg J, Starker LF, ..., Carling T (2012) Comprehensive DNA methylation analysis of benign and
malignant adrenocortical tumors. Genes Chromosomes and Cancer. [IF=1.173, Cited=46, 22733721].
Liu N, Beerman I, Lifton R, Zhao H (2006) Haplotype analysis in the presence of informatively missing genotype data.
Genetic Epidemiology. [IF=0.668, Cited=8, 16528706].
Bayrakli F, Bilguvar K, Mason CE, ..., Gunel M (2007) Rapid identification of disease-causing mutations using copy
number analysis within linkage intervals. Human Mutation. [IF=1.507, Cited=11, 17676595].
Lifton R (1973) Twentieth Annual Karen Horney Lecture. The sense of immortality: on death and the continuity of life.
American Journal of Psychoanalysis. [IF=1.893, Cited=24, 4127197].
Hwang DY, Kohl S, Fan X, ..., Hildebrandt F (2015) Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer
risk for congenital anomalies of the kidney and urinary tract. Human Genetics. [IF=1.653, Cited=44, 26026792].
Sanjad SA, Hariri A, Habbal ZM, Lifton R (2006) A novel PCLN-1 gene mutation in familial hypomagnesemia with
hypercalciuria and atypical phenotype. Pediatric Nephrology. [IF=1.316, Cited=11, 17123117].
Su IH, Frank R, Gauthier BG, ..., Trachtman H (2000) Bartter syndrome and focal segmental glomerulosclerosis: a possible
link between two diseases. Pediatric Nephrology. [IF=1.316, Cited=27, 10975308].
Yiu VW, Dluhy RP, Lifton R, Guay-Woodford LM (1997) Low peripheral plasma renin activity as a critical marker in
pediatric hypertension. Pediatric Nephrology. [IF=1.316, Cited=7, 9203188].
Tüysüz B, Bayrakli F, DiLuna ML, ..., Gunel M (2008) Novel NTRK1 mutations cause hereditary sensory and autonomic
neuropathy type IV: demonstration of a founder mutation in the Turkish population. Neurogenetics. [IF=0.774, Cited=12, 18322713].
Starker LF, Akerström T, Long WD, ..., Carling T (2012) Frequent germ-line mutations of the MEN1, CASR, and HRPT2/CDC73
genes in young patients with clinically non-familial primary hyperparathyroidism. None. [IF=None, Cited=50, 22187299].
Lifton R, Kedes LH (1976) Size and sequence homology of masked maternal and embryonic histone messenger RNAs.
Developmental Biology. [IF=0.815, Cited=31, 1245261].
Dluhy RG, Lifton R (1995) Glucocorticoid-remediable aldosteronism (GRA): diagnosis, variability of phenotype and
regulation of potassium homeostasis. Steroids. [IF=0.82, Cited=36, 7792815].
Goldberg ML, Lifton R, Stark GR, Williams JG (1979) Isolation of specific RNA's using DNA covalently linked to
diazobenzyloxymethyl cellulose or paper. None. [IF=None, Cited=44, 94420].
Jeunemaitre X, Soubrier F, Kotelevtsev YV, ..., Lalouel JM (1992) Molecular basis of human hypertension: role of
angiotensinogen. Cell. [IF=8.479, Cited=1000, 1394429].
Bakkaloglu B, O'Roak BJ, Louvi A, ..., State MW (2008) Molecular cytogenetic analysis and resequencing of contactin
associated protein-like 2 in autism spectrum disorders. American Journal of Human Genetics. [IF=2.607, Cited=354, 18179895].
Fernandez T, Morgan T, Davis N, ..., State MW (2008) Disruption of Contactin 4 (CNTN4) results in developmental delay
and other features of 3p deletion syndrome. American Journal of Human Genetics. [IF=2.607, Cited=34, 18551756].
Sanna-Cherchi S, Kiryluk K, Burgess KE, ..., Gharavi AG (2012) Copy-number disorders are a common cause of congenital
kidney malformations. American Journal of Human Genetics. [IF=2.607, Cited=142, 23159250].
Li N, Subrahmanyan L, Smith E, ..., Mani A (2016) Mutations in the Histone Modifier PRDM6 Are Associated with Isolated
Nonsyndromic Patent Ductus Arteriosus. American Journal of Human Genetics. [IF=2.607, Cited=8, 27716515].
Sanna-Cherchi S, Khan K, Westland R, ..., Gharavi AG (2017) Exome-wide Association Study Identifies GREB1L Mutations in
Congenital Kidney Malformations. American Journal of Human Genetics. [IF=2.607, Cited=14, 29220675].
Kathiresan S, Larson MG, Benjamin EJ, ..., Vasan RS (2005) Clinical and genetic correlates of serum aldosterone in the
community: the Framingham Heart Study. American Journal of Hypertension. [IF=0.926, Cited=54, 15882548].
Kahle KT, Rinehart J, Lifton R (2010) Phosphoregulation of the Na-K-2Cl and K-Cl cotransporters by the WNK kinases.
None. [IF=None, Cited=105, 20637866].
Rinehart J, Maksimova YD, Tanis JE, ..., Lifton R (2009) Sites of regulated phosphorylation that control K-Cl
cotransporter activity. Cell. [IF=8.479, Cited=196, 19665974].
Vilarinho S, Lifton R (2012) Liver transplantation: from inception to clinical practice. Cell. [IF=8.479, Cited=16, 22980971].
Shibata S, Rinehart J, Zhang J, ..., Lifton R (2013) Mineralocorticoid receptor phosphorylation regulates ligand binding
and renal response to volume depletion and hyperkalemia. None. [IF=None, Cited=106, 24206662].
Santin AD, Bellone S, Centritto F, ..., Lifton R (2015) Improved survival of patients with hypermutation in uterine
serous carcinoma. Gynecologic Oncology Reports. [IF=0.533, Cited=10, 26076146].
Bilguvar K, DiLuna ML, Bizzarro MJ, ..., Ment LR (2009) COL4A1 mutation in preterm intraventricular hemorrhage. Journal
of Pediatrics. [IF=1.32, Cited=40, 19840616].
Adén U, Lin A, Carlo W, ..., Ment LR (2013) Candidate gene analysis: severe intraventricular hemorrhage in inborn
preterm neonates. Journal of Pediatrics. [IF=1.32, Cited=7, 23896193].
Sanders SJ, Ercan-Sencicek AG, Hus V, ..., State MW (2011) Multiple recurrent de novo CNVs, including duplications of
the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron. [IF=3.346, Cited=795, 21658581].
Mishra-Gorur K, Çağlayan AO, Schaffer AE, ..., Günel M (2015) Mutations in KATNB1 Cause Complex Cerebral Malformations
by Disrupting Asymmetrically Dividing Neural Progenitors. Neuron. [IF=3.346, Cited=5, 29654772].
Kahle KT, Wilson FH, Lifton R (2005) Regulation of diverse ion transport pathways by WNK4 kinase: a novel molecular
switch. Trends in Endocrinology and Metabolism. [IF=2.064, Cited=45, 15808806].
Kahle KT, Rinehart J, Giebisch G, ..., Lifton R (2008) A novel protein kinase signaling pathway essential for blood
pressure regulation in humans. Trends in Endocrinology and Metabolism. [IF=2.064, Cited=18, 18280177].
Prince LS, Launspach JL, Geller DS, ..., Welsh MJ (1999) Absence of amiloride-sensitive sodium absorption in the airway
of an infant with pseudohypoaldosteronism. Journal of Pediatrics. [IF=1.32, Cited=12, 10586189].
Finberg KE, Wagner CA, Stehberger PA, ..., Lifton R (2003) Molecular cloning and characterization of Atp6v1b1, the
murine vacuolar H+ -ATPase B1-subunit. Gene. [IF=0.932, Cited=24, 14585495].
Dou H, Finberg K, Cardell EL, ..., Choo D (2003) Mice lacking the B1 subunit of H+ -ATPase have normal hearing. Hearing
Research. [IF=1.223, Cited=33, 12782355].
Simon DB, Lifton R (1998) Mutations in Na(K)Cl transporters in Gitelman's and Bartter's syndromes. Current Opinion in
Cell Biology. [IF=1.539, Cited=18, 9719864].
Lifton R, Dluhy RG (1993) The molecular basis of a hereditary form of hypertension, glucocorticoid-remediable
aldosteronism. Trends in Endocrinology and Metabolism. [IF=2.064, Cited=3, 18407135].
Karet FE, Finberg KE, Nelson RD, ..., Lifton R (1999) Mutations in the gene encoding B1 subunit of H+-ATPase cause renal
tubular acidosis with sensorineural deafness. Nature Genetics. [IF=6.89, Cited=393, 9916796].
Smith AN, Skaug J, Choate KA, ..., Karet FE (2000) Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump
116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. Nature Genetics. [IF=6.89,
Cited=213, 10973252].
Gharavi AG, Yan Y, Scolari F, ..., Lifton R (2000) IgA nephropathy, the most common cause of glomerulonephritis, is
linked to 6q22-23. Nature Genetics. [IF=6.89, Cited=172, 11062479].
Geller DS, Rodriguez-Soriano J, Vallo Boado A, ..., Lifton R (1998) Mutations in the mineralocorticoid receptor gene
cause autosomal dominant pseudohypoaldosteronism type I. Nature Genetics. [IF=6.89, Cited=162, 9662404].
Leu M, Humphreys K, Surakka I, ..., Ripatti S (2010) NordicDB: a Nordic pool and portal for genome-wide control data.
European Journal of Human Genetics. [IF=1.676, Cited=10, 20664631].
Zhang W, Hui KY, Gusev A, ..., Cho JH (2013) Extended haplotype association study in Crohn's disease identifies a novel,
Ashkenazi Jewish-specific missense mutation in the NF-κB pathway gene, HEATR3. Genes and Immunity. [IF=0.814, Cited=22, 23615072].
Chan KT, Papeta N, Martino J, ..., Gharavi AG (2008) Accelerated development of collapsing glomerulopathy in mice
congenic for the HIVAN1 locus. Kidney International. [IF=3.516, Cited=22, 19092797].
O'Roak BJ, Morgan TM, Fishman DO, ..., State MW (2010) Additional support for the association of SLITRK1 var321 and
Tourette syndrome. Molecular Psychiatry. [IF=2.603, Cited=32, 20351724].
Bilgüvar K, Oztürk AK, Louvi A, ..., Günel M (2010) Whole-exome sequencing identifies recessive WDR62 mutations in
severe brain malformations. Nature. [IF=11.591, Cited=332, 20729831].
Boyden LM, Choi M, Choate KA, ..., Lifton R (2012) Mutations in kelch-like 3 and cullin 3 cause hypertension and
electrolyte abnormalities. Nature. [IF=11.591, Cited=375, 22266938].
Sanders SJ, Murtha MT, Gupta AR, ..., State MW (2012) De novo mutations revealed by whole-exome sequencing are strongly
associated with autism. Nature. [IF=11.591, Cited=1000, 22495306].
Zaidi S, Choi M, Wakimoto H, ..., Lifton R (2013) De novo mutations in histone-modifying genes in congenital heart
disease. Nature. [IF=11.591, Cited=563, 23665959].
Kahle KT, Staley KJ, Nahed BV, ..., Mount DB (2008) Roles of the cation-chloride cotransporters in neurological disease.
None. [IF=None, Cited=241, 18769373].
Boyden LM, Lewis JM, Barbee SD, ..., Lifton R (2008) Skint1, the prototype of a newly identified immunoglobulin
superfamily gene cluster, positively selects epidermal gammadelta T cells. Nature Genetics. [IF=6.89, Cited=205, 18408721].
Krauthammer M, Kong Y, Ha BH, ..., Halaban R (2012) Exome sequencing identifies recurrent somatic RAC1 mutations in
melanoma. Nature Genetics. [IF=6.89, Cited=768, 22842228].
Bilguvar K, Yasuno K, Niemelä M, ..., Günel M (2008) Susceptibility loci for intracranial aneurysm in European and
Japanese populations. Nature Genetics. [IF=6.89, Cited=174, 18997786].
Lemaire M, Frémeaux-Bacchi V, Schaefer F, ..., Lifton R (2013) Recessive mutations in DGKE cause atypical hemolytic-
uremic syndrome. Nature Genetics. [IF=6.89, Cited=247, 23542698].
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