Standout Papers
Citation Impact
Citing Papers
Diagnosis and management of acute myeloid leukemia in adults: recommendations from an international expert panel, on behalf of the European LeukemiaNet
2009 Standout
Comparing Two Diagnostic Laboratory Tests for Williams Syndrome: Fluorescent In Situ Hybridization versus Multiplex Ligation-Dependent Probe Amplification
2007
Functional Aspects of Satellite DNA and Heterochromatin
1979
Isolation and characterization
2006 Standout
The genomic basis of the Williams – Beuren syndrome
2008
A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome
2001
Chimerism of the Transplanted Heart
2002 Standout
Neural Basis of Genetically Determined Visuospatial Construction Deficit in Williams Syndrome
2004
Successful Allogeneic Transplantation of T-Cell–Depleted Bone Marrow from Closely HLA-Matched Unrelated Donors
1990
Williams Syndrome: Use of Chromosomal Microdeletions as a Tool to Dissect Cognitive and Physical Phenotypes
1999
Observation of a parental inversion variant in a rare Williams–Beuren syndrome family with two affected children
2005
IV. Neuroanatomy of Williams Syndrome: A High-Resolution MRI Study
2000
Neurodevelopmental and behavioral issues in Williams syndrome
2007
Adults with Williams syndrome
1998
Williams-Beuren Syndrome: An Update and Review for the Primary Physician
1999
Elastin: molecular description and function
1999
Synthesis and surface engineering of iron oxide nanoparticles for biomedical applications
2004 Standout
Hemizygosity at the NCF1 Gene in Patients with Williams-Beuren Syndrome Decreases Their Risk of Hypertension
2006
Melanin Pigmentation in Mammalian Skin and Its Hormonal Regulation
2004 Standout
Molecular mechanisms of epithelial–mesenchymal transition
2014 Standout
Evaluation, Treatment, and Prevention of Vitamin D Deficiency: an Endocrine Society Clinical Practice Guideline
2011 Standout
Corneal Reconstruction with Tissue-Engineered Cell Sheets Composed of Autologous Oral Mucosal Epithelium
2004 Standout
(A)musicality in Williams syndrome: examining relationships among auditory perception, musical skill, and emotional responsiveness to music
2013
Elevated ambulatory blood pressure in 20 subjects with Williams syndrome
1999
Multisystem study of 20 older adults with Williams syndrome
2004
Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome
2008
Diagnosis and management of medical problems in adults with Williams–Beuren syndrome
2007
Allogeneic peripheral-blood progenitor-cell transplantation for poor-risk patients with metastatic breast cancer.
1998
Detection of large-scale variation in the human genome
2004 Standout
The REDCap consortium: Building an international community of software platform partners
2019 Standout
Regression of Metastatic Renal-Cell Carcinoma after Nonmyeloablative Allogeneic Peripheral-Blood Stem-Cell Transplantation
2000 Standout
Transplant-lite: induction of graft-versus-malignancy using fludarabine-based nonablative chemotherapy and allogeneic blood progenitor-cell transplantation as treatment for lymphoid malignancies.
1998
Developmental adaptation of the mouse cardiovascular system to elastin haploinsufficiency
2003
A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11.23
1997
Neural mechanisms in Williams syndrome: a unique window to genetic influences on cognition and behaviour
2006
The NOX Family of ROS-Generating NADPH Oxidases: Physiology and Pathophysiology
2007 Standout
Relapse of acute leukemia after marrow transplantation: natural history and results of subsequent therapy.
1989 StandoutNobel
Wnt signaling: a common theme in animal development
1997 Standout
Microdissection of Histologic Sections: Past, Present, and Future
2002
Incidence and spectrum of renal abnormalities in Williams-Beuren syndrome
1996
Chronic Renal Failure after Transplantation of a Nonrenal Organ
2003 Standout
Longitudinal evaluation of growth, puberty, and bone maturation in children with Williams syndrome
1999
New height, weight and head circumference charts for British children with Williams syndrome
2007
Williams–Beuren Syndrome
2010 Standout
Wnt/β-Catenin Signaling and Disease
2012 Standout
TGFβ and BMP signaling in cardiac cushion formation: Lessons from mice and chicken
2012
Graft-versus-host disease
2009 Standout
Combined immunophenotyping and FISH with sex chromosome-specific DNA probes for the detection of chimerism in epidermal Langerhans cells after sex-mismatched bone marrow transplantation
1996
Outcome of pulmonary and aortic stenosis in Williams‐Beuren syndrome in an Asian cohort
2007
Presenting phenotype and clinical evaluation in a cohort of 22 Williams–Beuren syndrome patients
2007
Remodelling the extracellular matrix in development and disease
2014 Standout
Evolution of chromosome bands: Molecular ecology of noncoding DNA
1989
All-Optical Histology Using Ultrashort Laser Pulses
2003 StandoutNobel
Mutation rates differ among regions of the mammalian genome
1989 StandoutNature
Genetic Basis for Congenital Heart Defects: Current Knowledge
2007
Evolution of Neurologic Features in Williams Syndrome
2007
Echocardiographic findings in patients with Williams-Beuren syndrome
2006
The Williams Syndrome Cognitive Profile
2000
Severe Expressive-Language Delay Related to Duplication of the Williams–Beuren Locus
2005
Fibulin-5/DANCE is essential for elastogenesis in vivo
2002 StandoutNatureNobel
Perceptions of epigenetics
2007 StandoutNature
Extracellular Matrix Molecules: Potential Targets in Pharmacotherapy
2009
Congenital supravalvar aortic stenosis: a simple lesion?
2001
Bone Marrow Transplantation
1994
Clinical Manifestations and Molecular Investigation of 50 Patients with Williams Syndrome in the Greek Population
2005
Human brain evolution: insights from microarrays
2004
Genomic Rearrangements and Gene Copy-Number Alterations as a Cause of Nervous System Disorders
2006
Comparison of Protein and mRNA Expression Evolution in Humans and Chimpanzees
2007 StandoutNobel
Genetic disorders of the elastic fiber system
2000
Chromosomal microdeletions: dissecting del22q11 syndrome
2001
Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice
1994 Standout
Mechanisms of angiogenesis and arteriogenesis
2000 Standout
Characterization and Expression Pattern of thefrizzledGeneFzd9,the Mouse Homolog ofFZD9Which Is Deleted in Williams–Beuren Syndrome
1999
A LONGITUDINAL STUDY OF COGNITIVE ABILITIES AND EDUCATIONAL ATTAINMENT IN WILLIAMS SYNDROME
1996
Autophagy: process and function
2007 Standout
Acute and chronic graft-versus-host disease after ablative and nonmyeloablative conditioning for allogeneic hematopoietic transplantation
2004
Carotid ultrasound examination in Williams syndrome
1998
Elastin is an essential determinant of arterial morphogenesis
1998 StandoutNature
Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams Syndrome
2006
Wnt signalling in stem cells and cancer
2005 StandoutNature
Allelic inactivation regulates olfactory receptor gene expression
1994 StandoutNobel
Submicroscopic Deletion in Patients with Williams-Beuren Syndrome Influences Expression Levels of the Nonhemizygous Flanking Genes
2006
Evolution of primate gene expression
2006 StandoutNobel
Transcriptional control of cognitive development
2005
Cyclosporine-Induced Hypertension After Transplantation
1994
Segmental duplications: an 'expanding' role in genomic instability and disease
2001
Symptoms and Suffering at the End of Life in Children with Cancer
2000 Standout
Williams-Beuren Syndrome: A Model of Recurrent Genomic Mutation
2003
Induced chromosome deletions cause hypersociability and other features of Williams–Beuren syndrome in mice
2009
Anxiety, Fears, and Phobias in Persons With Williams Syndrome
2003
Parallel Patterns of Evolution in the Genomes and Transcriptomes of Humans and Chimpanzees
2005 StandoutScienceNobel
The Protein Kinase Complement of the Human Genome
2002 StandoutScience
Molecular and genetic characterization of a radiation-induced structural rearrangement in mouse chromosome 2 causing mutations at the limb deformity and agouti loci.
1990
Current Perspectives on Arterial Stiffness and Pulse Pressure in Hypertension and Cardiovascular Diseases
2003 Standout
Neurologic Findings in Children and Adults With Williams Syndrome
1996
Cardiovascular findings, and clinical course, in patients with Williams syndrome
2003
Evidence of long-term survival of donor-derived cells after limbal allograft transplantation.
1999
Hyperacusis in Williams syndrome
2006
Frizzled 9 knock-out mice have abnormal B-cell development
2004
Lectins: Carbohydrate-Specific Proteins That Mediate Cellular Recognition
1998 Standout
Functional Arteries Grown in Vitro
1999 StandoutScience
Melphalan and purine analog–containing preparative regimens: reduced-intensity conditioning for patients with hematologic malignancies undergoing allogeneic progenitor cell transplantation
2001
Reduced-intensity conditioning for unrelated donor hematopoietic stem cell transplantation as treatment for myeloid malignancies in patients older than 55 years
2003
ACC/AHA 2008 Guidelines for the Management of Adults With Congenital Heart Disease: Executive Summary
2008 Standout
Recent Stem Cell Advances: Induced Pluripotent Stem Cells for Disease Modeling and Stem Cell–Based Regeneration
2010 StandoutNobel
A General Mechanism for Network-Dosage Compensation in Gene Circuits
2010 StandoutScienceNobel
AnFgf8mouse mutant phenocopies human 22q11 deletion syndrome
2002 StandoutNobel
Balloon Dilation Angioplasty of Peripheral Pulmonary Stenosis Associated With Williams Syndrome
2001
Melphalan and purine analog–containing preparative regimens: reduced-intensity conditioning for patients with hematologic malignancies undergoing allogeneic progenitor cell transplantation
2001
Heart Valve Development
2009
Successful engraftment of T-cell-depleted haploidentical "three-loci" incompatible transplants in leukemia patients by addition of recombinant human granulocyte colony-stimulating factor-mobilized peripheral blood progenitor cells to bone marrow inoculum
1994
Regenerating tissues from the cockroach Leucophaea maderae: Effects of endocrine glands in vitro
1965
Bone marrow transplantation for hematologic malignancies in patients aged 30 years or older.
1986
Regenerating tissues of the cockroach leucophaea maderae: Effects of humoral stimulation in vitro
1968
Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome
1999
Severe Infantile Hypercalcemia Associated With Williams Syndrome Successfully Treated With Intravenously Administered Pamidronate
2004
Human haploinsufficiency — one for sorrow, two for joy
1994
THE GENETICS AND EPIGENETICS OF NEOPLASMS IN DROSOPHILA
1978
Myeloid and lymphoid chimerism after T-cell-depleted bone marrow transplantation: evaluation of conditioning regimens using the polymerase chain reaction to amplify human minisatellite regions of genomic DNA
1992
Engraftment of Allogeneic Hematopoietic Progenitor Cells With Purine Analog-Containing Chemotherapy: Harnessing Graft-Versus-Leukemia Without Myeloablative Therapy
1997
Isolation of a Saccharomyces cerevisiae centromere DNA-binding protein, its human homolog, and its possible role as a transcription factor.
1987 StandoutNobel
Effectiveness of Donor Natural Killer Cell Alloreactivity in Mismatched Hematopoietic Transplants
2002 StandoutScience
Malignant Neoplasms of Genetic Origin in Drosophila melanogaster
1978 StandoutScience
World Health Organization Classification of Neoplastic Diseases of the Hematopoietic and Lymphoid Tissues: Report of the Clinical Advisory Committee Meeting—Airlie House, Virginia, November 1997
1999 Standout
Targeted Disruption of the Mouse Topoisomerase I Gene by Camptothecin Selection
1996 StandoutNobel
Prevalence Estimation of Williams Syndrome
2002 Standout
The Complete Nucleotide Sequence of the Human Immunoglobulin Heavy Chain Variable Region Locus
1998 StandoutNobel
Axonal Outgrowth and Cell Migration in vitro from Nervous System of Cockroach Embryos
1969 StandoutScienceNobel
Treatment of Therapy-Related Leukemia and Myelodysplastic Syndrome
1993
Role of replication time in the control of tissue-specific gene expression.
1987
Neurodevelopmental Outcomes in Children With Congenital Heart Disease: Evaluation and Management
2012 Standout
Isolation of a Saccharomyces cerevisiae Centromere DNA-Binding Protein, Its Human Homolog, and its Possible Role as a Transcription Factor
1987 StandoutNobel
Aging, Carotid Artery Distensibility, and the Ser422Gly Elastin Gene Polymorphism in Humans
2001
Works of A.D. Stock being referenced
GTF2I hemizygosity implicated in mental retardation in Williams syndrome: Genotype–phenotype analysis of five families with deletions in the Williams syndrome region
2003
Bone marrow transplantation for myelodysplastic and myeloproliferative syndromes.
1987
Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome
1993 Standout
Proximal 5p trisomy resulting from a marker chromosome implicates band 5p13 in 5p trisomy syndrome
1999
ALLOGENEIC BONE MARROW TRANSPLANTATION FOR ACUTE LYMPHOBLASTIC LEUKEMIA DURING FIRST COMPLETE REMISSION
1987
Some effects of farnesyl methyl ether on regeneration and metamorphosis in the cockroach blattella germanica (L.)
1964
Development of a single probe for documentation of chimerism following bone marrow transplantation.
1987
Regeneration and the Moulting Cycle in. Blattella Germanica L. III. Successive Regeneration of Both Metathoracic Legs
1954
USE OF DNA RESTRICTION FRAGMENT LENGTH POLYMORPHISMS TO DOCUMENT MARROW ENGRAFTMENT AND MIXED HEMATOPOIETIC CHIMERISM FOLLOWING BONE MARROW TRANSPLANTATION
1987
Regeneration and the Moulting Cycle in Blattella Germanica L. I. Single Regeneration Initiated During the First Instar
1953
A combination of sister chromatid differential staining and giemsa banding
1975
Chromosome banding pattern conservatism in birds and nonhomology of chromosome banding patterns between birds, turtles, snakes and amphibians
1975
Evolutionary conservatism in arrangement of genetic material
1973
Conservatism in the Arrangement of Genetic Material in Rodents
1974