Citation Impact
Citing Papers
SPDI: data model for variants and applications at NCBI
2019
Ubiquitinated TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis
2006 StandoutScience
Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP
1995 StandoutNature
Mutations in PAX3 associated with waardenburg syndrome type I
1994
SIFT web server: predicting effects of amino acid substitutions on proteins
2012 Standout
Pre-mRNA splicing and human disease
2003
Frequent Occurrence of the CFTRIntron 8 (TG)n 5T Allele in Men withCongenital Bilateral Absence of the Vas Deferens
1995
The Tuberous Sclerosis Complex
2006 Standout
Cystic fibrosis mutations for p.F508del compound heterozygotes predict sweat chloride levels and pancreatic sufficiency
2011
Correction of the cystic fibrosis defect in vitro by retrovirus-mediated gene transfer
1990 Standout
Cystic fibrosis
2016 Standout
The diagnosis of cystic fibrosis: A consensus statement
1998
Melanin Pigmentation in Mammalian Skin and Its Hormonal Regulation
2004 Standout
Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2
1993
Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease
1992
Genotype and Phenotype in Cystic Fibrosis
2000
The Cystic Fibrosis mutation “arms race”: when less is more
2007
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes
1995
Rheb GTPase is a direct target of TSC2 GAP activity and regulates mTOR signaling
2003 Standout
Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study
2003
Pancreatic cancer
2016 Standout
Revisions of the international criteria for neuroblastoma diagnosis, staging, and response to treatment.
1993 Standout
Relation between Mutations of the Cystic Fibrosis Gene and Idiopathic Pancreatitis
1998
Neural-Tube Defects
1999 Standout
Familial and Personal Medical History of Cancer and Nervous System Conditions among Adults with Glioma and Controls
1997
A frame-shift mutation in the cystic fibrosis gene
1990 Nature
Electrochemical DNA sensors
2003 Standout
Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein
1993 Standout
Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and risk for pancreatic adenocarcinoma
2009
Systemic delivery of morpholino oligonucleotide restores dystrophin expression bodywide and improves dystrophic pathology
2006 StandoutNobel
Database resources of the National Center for Biotechnology Information: update
2003 Standout
Crouzon-like craniofacial dysmorphology in the mouse is caused by an insertional mutation at theFgf3/Fgf4 locus
1998 StandoutNobel
FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease
2002 Standout
Telomeres
1991 StandoutNobel
Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping
2001
A CFTR Potentiator in Patients with Cystic Fibrosis and the G551D Mutation
2011 Standout
Alveolar rhabdomyosarcomas in conditional Pax3:Fkhr mice: cooperativity of Ink4a/ARF and Trp53 loss of function
2004 StandoutNobel
Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma
1993
TSC2 Mediates Cellular Energy Response to Control Cell Growth and Survival
2003 Standout
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
1997 Standout
Guidelines for Diagnosis of Cystic Fibrosis in Newborns through Older Adults: Cystic Fibrosis Foundation Consensus Report
2008
Fibroblast Growth Factor Receptor‐2 Mutations in Craniosynostosisa
1996
The Human Hypoxia-Inducible Factor 1α Gene:HIF1AStructure and Evolutionary Conservation
1998 StandoutNobel
Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome
1995 Standout
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening
2001
Intestinal mucosal barrier function in health and disease
2009 Standout
Epidemiology of Brain Tumors
2007
Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene
1994 Standout
TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling
2002 Standout
Tuberous sclerosis
2008 Standout
Malignant Gliomas in Adults
2008 Standout
Circular RNAs are abundant, conserved, and associated with ALU repeats
2012 Standout
Listening to silence and understanding nonsense: exonic mutations that affect splicing
2002 Standout
Cystic fibrosis genetics: from molecular understanding to clinical application
2014 Standout
Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations
1995
Two loci for Tuberous Sclerosis: one on 9q34 and one on 16p13
1994
CFTR Genotype as a Predictor of Prognosis in Cystic Fibrosis
2006
Efficacy and safety of ivacaftor in patients with cystic fibrosis who have an Arg117His-CFTR mutation: a double-blind, randomised controlled trial
2015
Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens
2000
Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships
2008
Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders
2008
Cochlear disorder associated with melanocyte anomaly in mice with a transgenic insertional mutation
1992
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
1997 StandoutNature
Transcriptional regulation of gene expression: Mechanisms and pathophysiology
1994 StandoutNobel
Developmentally programmed healing of chromosomes by telomerase in tetrahymena
1991 StandoutNobel
Molecular genetics and genetic counselling for Duchenne/Becker muscular dystrophy
1993
Identification of VAV2 on 9q34 and its exclusion as the tuberous sclerosis gene TSC1
1995
Mutations in the Cystic Fibrosis Gene in Patients with Congenital Absence of the Vas Deferens
1995 Standout
Isolation and characterization of a human telomere
1989
Germ-Line Mutational Analysis of the TSC2 Gene in 90 Tuberous-Sclerosis Patients
1998
High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening*
2006 Standout
Pulmonary Function and Clinical Observations in Men With Congenital Bilateral Absence of the Vas Deferens
1996
A mouse model of Greig cephalo–polysyndactyly syndrome: the extra–toesJ mutation contains an intragenic deletion of the Gli3 gene
1993 Standout
Airway Inflammation and Infection in Congenital Bilateral Absence of the Vas Deferens
2003
Pathophysiology and Management of Pulmonary Infections in Cystic Fibrosis
2003 Standout
Management of glioblastoma: State of the art and future directions
2020 Standout
Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.
1995
Small GTP-Binding Proteins
2001 Standout
A map of the human immunoglobulin VH locus completed by analysis of the telomeric region of chromosome 14q
1994 StandoutNobel
FOCAL ADHESIONS, CONTRACTILITY, AND SIGNALING
1996 Standout
CBTRUS Statistical Report: Primary Brain and Central Nervous System Tumors Diagnosed in the United States in 2006-2010
2013 Standout
A Missense Cystic Fibrosis Transmembrane Conductance Regulator Mutation With Variable Phenotype
1997
Role of CFTR in Airway Disease
1999
Inflammatory Bowel Disease
2010 Standout
Telomeres and Their Synthesis
1990 StandoutScienceNobel
The TSC1–TSC2 complex: a molecular switchboard controlling cell growth
2008 Standout
Nuclear Receptor Coregulators: Cellular and Molecular Biology*
1999 Standout
Correlation between Genotype and Phenotype in Patients with Cystic Fibrosis
1993
Genetic Variation and Clinical Heterogeneity in Cystic Fibrosis
2011
Construction and characterization of a YAC library with a lowfrequency of chimeric clones from flow-sorted human chromosome 9
1993
Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).
1993
Lung Infections Associated with Cystic Fibrosis
2002 Standout
Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes.
1994
Works of J. Amos being referenced
Genotype-phenotype correlation and frequency of the 3199del6 cystic fibrosis mutation among I148T carriers: Results from a collaborative study
2004
Immunology: Congenital unilateral absence of the vas deferens: a heterogeneous disorder with two distinct subpopulations based upon aetiology and mutational status of the cystic fibrosis gene
1995
A Comparative Study on Genetic Heterogeneity in Tuberous Sclerosis: Evidence for One Gene on 9q34 and a Second Gene on 11q22–23a
1991
Dystrophin analysis in duchenne muscular dystrophy: use in fetal diagnosis and in genetic counseling.
1989
Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium.
1992
A mutation in CFTR produces different phenotypes depending on chromosomal background
1993
DNA analysis of cystic fibrosis genotypes in relatives with equivocal sweat test results.
1990
Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity.
1991
Molecular and cytogenetic characterization of a de novo t(5p;21q) in a patient previously diagnosed as monosomy 21.
1988