Anita Farhi

Author PubWeight™ 53.07^‹?›

Top papers

Rank	Title	Journal	Year	PubWeight™‹?›
1	Genetic diagnosis by whole exome capture and massively parallel DNA sequencing.	Proc Natl Acad Sci U S A	2009	15.09
2	High bone density due to a mutation in LDL-receptor-related protein 5.	N Engl J Med	2002	11.28
3	Sequence variants in SLITRK1 are associated with Tourette's syndrome.	Science	2005	8.20
4	Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.	Nature	2012	4.26
5	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10.	Proc Natl Acad Sci U S A	2009	2.41
6	Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10.	Science	2010	2.21
7	A cluster of metabolic defects caused by mutation in a mitochondrial tRNA.	Science	2004	1.95
8	Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome.	Am J Hum Genet	2004	1.87
9	Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5.	Proc Natl Acad Sci U S A	2012	1.74
10	Disruption of Contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome.	Am J Hum Genet	2008	1.31
11	Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder.	Proc Natl Acad Sci U S A	2005	1.17
12	A novel SGLT2 mutation in a patient with autosomal recessive renal glucosuria.	Nephrol Dial Transplant	2004	1.03
13	Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti.	J Clin Invest	2015	0.78
14	An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred.	Pediatr Dermatol	2012	0.75