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anita farhi

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Ute I Scholl; Haatal B Dave; anita farhi; James A Listman; Ming Lu; Carol Nelson-Williams; Richard P Lifton
SeSAME/EAST syndrome--phenotypic variability and delayed activity of the distal convoluted tubule.
Catherine S Yang; Richard J Antaya; anita farhi; Earl J Glusac; Michael Kashgarian; Richard P Lifton; Yin Lu; Carol Nelson-Williams; Keith Choate
An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred.
Ute I Scholl; Wen-Hui Wang; Robert J Wyatt; Peng Yue; Robert Couch; Michael J Dillon; anita farhi; Roger J Grekin; Lisa K Hammer; Frances L Harley; Carol Nelson-Williams; Richard P Lifton
Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5.

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All Publications

2012: Ute I Scholl; Haatal B Dave; anita farhi; James A Listman; Ming Lu; Carol Nelson-Williams; Richard P Lifton
SeSAME/EAST syndrome--phenotypic variability and delayed activity of the distal convoluted tubule.
Pediatric nephrology (Berlin, Germany) 2012;27(11):2081-90.
2012: Catherine S Yang; Richard J Antaya; anita farhi; Earl J Glusac; Michael Kashgarian; Richard P Lifton; Yin Lu; Carol Nelson-Williams; Keith Choate
An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred.
Pediatric dermatology 2012;29(6):725-31.
2012: Ute I Scholl; Wen-Hui Wang; Robert J Wyatt; Peng Yue; Robert Couch; Michael J Dillon; anita farhi; Roger J Grekin; Lisa K Hammer; Frances L Harley; Carol Nelson-Williams; Richard P Lifton
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 2012;109(7):2533-8.
2010: Keith Choate; Yin Lu; Jing Zhou; Murim Choi; Peter M Elias; anita farhi; Carol Nelson-Williams; Debra Crumrine; Mary L Williams; Amy J Nopper; Alanna Bree; Leonard M Milstone; Richard P Lifton
Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10.
Science (New York, N.Y.) 2010;330(6000):94-7.
2009: Murim Choi; Ute I Scholl; Weizhen Ji; Tiewen Liu; Irina R Tikhonova; Paul Zumbo; AHMET NAYIR; Ayşin Bakkaloğlu; Seza Ozen; Sami A Sanjad; Carol Nelson-Williams; anita farhi; Shrikant M Mane; Richard P Lifton
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing.
Proceedings of the National Academy of Sciences of the United States of America 2009;106(45):19096-101.
2009: Ute I Scholl; Murim Choi; Tiewen Liu; Vincent T Ramaekers; Martin G Häusler; Joanne Grimmer; Sheldon W Tobe; anita farhi; Carol Nelson-Williams; Richard P Lifton
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 2009;106(14):5842-7.
2008: Thomas V Fernandez; Thomas Morgan; Nicole Davis; Ami Klin; Ashley Morris; anita farhi; Richard P Lifton; Sate Matthew
Disruption of Contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome.
American journal of human genetics 2008;82(6):1385.
2005: Jesse F Abelson; Kenneth Y Kwan; Brian J O'Roak; Danielle Y Baek; Althea A Stillman; Thomas M Morgan; Carol A Mathews; David L Pauls; Mladen-Roko Rasin; Murat Gunel; Nicole R Davis; A Gulhan Ercan-Sencicek; Danielle H Guez; John A Spertus; James F Leckman; Leon S Dure; Roger Kurlan; Harvey S Singer; Donald L Gilbert; anita farhi; Angeliki Louvi; Richard P Lifton; Nenad Sestan; Sate Matthew
Sequence variants in SLITRK1 are associated with Tourette's syndrome.
Science (New York, N.Y.) 2005;310(5746):317-20.
2005: Arya Mani; Jayaram Radhakrishnan; anita farhi; Khary S Carew; Carole A Warnes; Carol Nelson-Williams; Ronald W Day; Barbara Pober; Sate Matthew; Richard P Lifton
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 2005;102(8):2975-9.
2004: Frederick H Wilson; Ali Hariri; anita farhi; Hongyu Zhao; Kitt Falk Petersen; Hakan R Toka; Carol Nelson-Williams; Khalid M Raja; Michael Kashgarian; Gerald I Shulman; Steven J Scheinman; Richard P Lifton
A cluster of metabolic defects caused by mutation in a mitochondrial tRNA.
Science (New York, N.Y.) 2004;306(5699):1190-4.
2004: jean francis; Junhui Zhang; anita farhi; Hugh Carey; David S Geller
A novel SGLT2 mutation in a patient with autosomal recessive renal glucosuria.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2004;19(11):2893-5.
2004: Thomas V Fernandez; Thomas Morgan; Nicole Davis; Ami Klin; Ashley Morris; anita farhi; Richard P Lifton; Sate Matthew
Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome.
American journal of human genetics 2004;74(6):1286-93.
2002: Lynn M Boyden; junhao mao; Joseph Belsky; Lyle Mitzner; anita farhi; Mary Ann Mitnick; Dianqing Wu; Karl Insogna; Richard P Lifton
High bone density due to a mutation in LDL-receptor-related protein 5.
The New England journal of medicine 2002;346(20):1513-21.
2001: Dinna Cruz; DB Simon; Carol Nelson-Williams; anita farhi; Karin E Finberg; L Burleson; J R Gill; Richard P Lifton
Mutations in the Na-Cl cotransporter reduce blood pressure in humans.
Hypertension 2001;37(6):1458-64.
2000: Ali G Gharavi; Y Yan; Francesco Scolari; Francesco Paolo Schena; G M Frasca; Gian Marco Ghiggeri; K Cooper; Antonio Amoroso; Battista Fabio Viola; G Battini; Gianluca Caridi; Cristina Canova; anita farhi; V Subramanian; Carol Nelson-Williams; Susan Woodford; B A Julian; Robert Wyatt; Richard P Lifton
IgA nephropathy, the most common cause of glomerulonephritis, is linked to 6q22-23.
Nature genetics 2000;26(3):354-7.
2000: David S Geller; anita farhi; N Pinkerton; M Fradley; M Moritz; A Spitzer; G Meinke; Francis T F Tsai; Paul B Sigler; Richard P Lifton
Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy.
Science (New York, N.Y.) 2000;289(5476):119-23.
1995: Lawrence H Price; Dennis D Spencer; Kenneth Marek; R J Robbins; Csaba Leranth; anita farhi; Frederick Naftolin; Robert H Roth; B S Bunney; PB Hoffer
Psychiatric status after human fetal mesencephalic tissue transplantation in Parkinson's disease.
Biological psychiatry 1995;38(8):498-505.
1995: K J Sass; C P Buchanan; Michael Westerveld; Kenneth Marek; anita farhi; R J Robbins; Frederick Naftolin; T L Vollmer; Csaba Leranth; Robert H Roth
General cognitive ability following unilateral and bilateral fetal ventral mesencephalic tissue transplantation for treatment of Parkinson's disease.
Archives of neurology 1995;52(7):680-6.