Standout Papers
- High fertilization and pregnancy rate after intracytoplasmic sperm injection with spermatozoa obtained from testicle biopsy (1995)
- Are there any predictive factors for successful testicular sperm recovery in azoospermic patients? (1997)
- Mutations in the Cystic Fibrosis Gene in Patients with Congenital Absence of the Vas Deferens (1995)
Citation Impact
Citing Papers
SuFEx-enabled, agnostic discovery of covalent inhibitors of human neutrophil elastase
2019 StandoutNobel
Ubiquitinated TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis
2006 StandoutScience
The MR-Base platform supports systematic causal inference across the human phenome
2018 Standout
The Istanbul consensus workshop on embryo assessment: proceedings of an expert meeting
2011 Standout
The DNA-damage response in human biology and disease
2009 StandoutNature
An Expanded View of Complex Traits: From Polygenic to Omnigenic
2017 Standout
Germline development from human pluripotent stem cells toward disease modeling of infertility
2012 StandoutNobel
Predominance of null mutations in ataxia-telangiectasia
1996
The Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement: guidelines for reporting observational studies
2008 Standout
Natural Compounds as Therapeutic Agents in the Treatment Cystic Fibrosis
2016
Lumacaftor–Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508delCFTR
2015 Standout
To err (meiotically) is human: the genesis of human aneuploidy
2001 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
Detection and interpretation of shared genetic influences on 42 human traits
2016
Predictors of deterioration of lung function in cystic fibrosis*
2002
Cystic fibrosis
2016 Standout
The diagnosis of cystic fibrosis: A consensus statement
1998
Mutation in the Gene Responsible for Cystic Fibrosis and Predisposition to Chronic Rhinosinusitis in the General Population
2000
Rescue of ΔF508-CFTR trafficking and gating in human cystic fibrosis airway primary cultures by small molecules
2006
Infertility in the third millennium: implications for the individual, family and society: Condensed Meeting Report from the Bertarelli Foundation's Second Global Conference
2004
International estimates of infertility prevalence and treatment-seeking: potential need and demand for infertility medical care
2007 Standout
The Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) Statement: Guidelines for reporting observational studies
2014 Standout
Genotype and Phenotype in Cystic Fibrosis
2000
Early cleavage of human embryos to the two-cell stage after intracytoplasmic sperm injection as an indicator of embryo viability
1998
Cystic Fibrosis ΔF508 Heterozygotes, Smoking, and Reproduction: Studies of 9141 Individuals from a General Population Sample
1998
Clinical Epidemiological Quality in Molecular Genetic Research
1999
A series of monozygotic twins discordant for ovarian failure: ovary transplantation (cortical versus microvascular) and cryopreservation
2008
Pancreatic cancer
2016 Standout
Effects of Gender and Age at Diagnosis on Disease Progression in Long-term Survivors of Cystic Fibrosis
2010
12 Nondisjunction in the Human Male
1997
Relation between Mutations of the Cystic Fibrosis Gene and Idiopathic Pancreatitis
1998
Strengthening the reporting of observational studies in epidemiology (STROBE) statement: guidelines for reporting observational studies
2007 Standout
Electrochemical DNA sensors
2003 Standout
Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and risk for pancreatic adenocarcinoma
2009
Testicular sperm extraction (TESE) and ICSI in patients with permanent azoospermia after chemotherapy
2003
Gene Therapy and Intracytoplasmatic Sperm Injection (ICSI) – A Review
2008
Reading Mendelian randomisation studies: a guide, glossary, and checklist for clinicians
2018 Standout
Cystic Fibrosis
2005
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
Chromosomal abnormalities in embryos derived from testicular sperm extraction
2003
The DNA Damage Response: Making It Safe to Play with Knives
2010 Standout
Interpreting findings from Mendelian randomization using the MR-Egger method
2017 Standout
Time to think again: Cystic fibrosis is not an ?all or none? disease
2000
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening
2001
Intestinal mucosal barrier function in health and disease
2009 Standout
A mutation in the cystic fibrosis transmembrane conductance regulator gene associated with elevated sweat chloride concentrations in the absence of cystic fibrosis
1998
Circular RNAs are abundant, conserved, and associated with ALU repeats
2012 Standout
Cystic fibrosis genetics: from molecular understanding to clinical application
2014 Standout
The Diagnosis of Cystic Fibrosis
1997
Detection of widespread horizontal pleiotropy in causal relationships inferred from Mendelian randomization between complex traits and diseases
2018 Standout
Information analysis of human splice site mutations
1998
Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens
2000
Xeroderma Pigmentosum Group C Splice Mutation Associated with Autism and Hypoglycinemia11An abstract of this manuscript was presented at the annual meeting of the Society for Investigative Dermatology in Washington, DC
1998 StandoutNobel
Micromanipulation in assisted reproduction: a review of current technology
1998
Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships
2008
The biology of infertility: research advances and clinical challenges
2008
Airway Mucus Function and Dysfunction
2010 Standout
The Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) Statement: Guidelines for Reporting Observational Studies
2007 Standout
10 Years of GWAS Discovery: Biology, Function, and Translation
2017 Standout
The Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) Statement: Guidelines for reporting observational studies
2007 Standout
Microneedles for drug and vaccine delivery
2012 Standout
Genotype and Phenotype in Cystic Fibrosis
1997
The Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement: guidelines for reporting observational studies
2007 Standout
Characterization of vectorial chloride transport pathways in the human pancreatic duct adenocarcinoma cell line HPAF
2003
Muscle as an Endocrine Organ: Focus on Muscle-Derived Interleukin-6
2008 Standout
Mendelian genetics of male infertility
2010
Preservation of Fertility in Patients with Cancer
2009 Standout
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
Airway Inflammation and Infection in Congenital Bilateral Absence of the Vas Deferens
2003
Pathophysiology and Management of Pulmonary Infections in Cystic Fibrosis
2003 Standout
Cigarette Smoke Induces Systemic Defects in Cystic Fibrosis Transmembrane Conductance Regulator Function
2013
Pulmonary Outcome in Cystic Fibrosis Is Influenced Primarily by Mucoid Pseudomonas aeruginosa Infection and Immune Status and Only Modestly by Genotype
1999
Receptors for Purines and Pyrimidines
1998 Standout
Bacterial Biofilms: An Emerging Link to Disease Pathogenesis
2003 Standout
American Society of Clinical Oncology Recommendations on Fertility Preservation in Cancer Patients
2006 Standout
A revolution in optical manipulation
2003 StandoutNature
Role of CFTR in Airway Disease
1999
Inflammatory Bowel Disease
2010 Standout
Consistent Estimation in Mendelian Randomization with Some Invalid Instruments Using a Weighted Median Estimator
2016 Standout
The Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) Statement: Guidelines for Reporting Observational Studies
2007 Standout
The molecular basis of partial penetrance of splicing mutations in cystic fibrosis.
1997
Enhanced Phosphorylation of p53 by ATM in Response to DNA Damage
1998 StandoutScience
Lung Infections Associated with Cystic Fibrosis
2002 Standout
The Essential Medicinal Chemistry of Curcumin
2017 Standout
A C-terminal motif found in the β 2 -adrenergic receptor, P2Y1 receptor and cystic fibrosis transmembrane conductance regulator determines binding to the Na + /H + exchanger regulatory factor family of PDZ proteins
1998 StandoutNobel
The anti-inflammatory effect of exercise
2005 Standout
Adenovirus-mediated gene delivery and in vitro microinsemination produce offspring from infertile male mice
2002 StandoutNobel
Localization and characterization of adenosine receptor expression in rat testis.
1994
Works of S. Silber being referenced
Distribution of spermatogenesis in the testicles of azoospermic men: the presence or absence of spermatids in the testes of men with germinal failure
1997
High fertilization and pregnancy rate after intracytoplasmic sperm injection with spermatozoa obtained from testicle biopsy
1995 Standout
Prevalence of premature ovarian failure in monozygotic and dizygotic twins
2006
Are spermatid injections of any clinical value? ROSNI and ROSI revisited. Round spermatid nucleus injection and round spermatid injection
1998
Intracytoplasmic sperm injection (ICSI): the Brussels experience
1995
Mutations in the Cystic Fibrosis Gene in Patients with Congenital Absence of the Vas Deferens
1995 Standout
Are there any predictive factors for successful testicular sperm recovery in azoospermic patients?
1997 Standout
Evidence for a novel adenylyl cyclase in human epididymal sperm.
1993