Standout Papers
Citation Impact
Citing Papers
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy
2014 Standout
Chromosome Abnormalities and Genetic Counseling
2011
Self‐injurious behavior in young boys with fragile X syndrome
2003
DNA Sequencing versus Standard Prenatal Aneuploidy Screening
2014 Standout
Invasive Prenatal Diagnostic Techniques
2005
Molecular Analysis of Rat Pituitary and Hypothalamic Growth Hormone Secretagogue Receptors
1997
Truncated CBP protein leads to classical Rubinstein-Taybi syndrome phenotypes in mice: implications for a dominant-negative mechanism
1999
Population genetic screening programmes: principles, techniques, practices, and policies
2003
NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome
2004
Technical Details of Intraoperative Lymphatic Mapping for Early Stage Melanoma
1992 Standout
22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features
2015 Standout
Cell-free DNA Analysis for Noninvasive Examination of Trisomy
2015 Standout
Update on Procedure-Related Risks for Prenatal Diagnosis Techniques
2009
FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism
2011 Standout
Cleft lip and palate: understanding genetic and environmental influences
2011 Standout
The Sentinel Node in Breast Cancer — A Multicenter Validation Study
1998 Standout
Cell-free nucleic acids as biomarkers in cancer patients
2011 Standout
Ghrelin induces adiposity in rodents
2000 StandoutNature
Circulating Nucleic Acids in Plasma and Serum
2008
A role for ghrelin in the central regulation of feeding
2001 StandoutNature
The Risk of Cancer Associated with Specific Mutations ofBRCA1andBRCA2among Ashkenazi Jews
1997 Standout
An ultrasensitive method for quantitating circulating tumor DNA with broad patient coverage
2014 Standout
Management of malignant pleural effusions
2001 Standout
A duplicated gene in the breakpoint regions of the 7q11.23 Williams- Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK
1998
From prenatal genomic diagnosis to fetal personalized medicine: progress and challenges
2012
CellProfiler: image analysis software for identifying and quantifying cell phenotypes
2006 Standout
Health Supervision for Children With Down Syndrome
2011 Standout
Histopathological Image Analysis: A Review
2009 Standout
Ghrelin: Structure and Function
2005 Standout
Chylous ascites: A collective review
2000 Standout
Down syndrome
2020 Standout
HAT activity is essential for CBP‐1‐dependent transcription and differentiation in Caenorhabditis elegans
2002 StandoutNobel
Pathophysiology of the Neuroregulation of Growth Hormone Secretion in Experimental Animals and the Human*
1998 Standout
Inhibition of DNA synthesis in synchronized Chinese hamster cells treated in G1 with cycloheximide
1971
Chylous Ascites
1970
Selective analysis of cell‐free DNA in maternal blood for evaluation of fetal trisomy
2012
The coregulator exchange in transcriptional functions of nuclear receptors
2000 Standout
Genomic Analysis of Fetal Nucleic Acids in Maternal Blood
2012
Lymphography in melanoma.Correlation of radiology with pathology
1966
Preterm labor: One syndrome, many causes
2014 StandoutScience
Liquid Biopsies: Genotyping Circulating Tumor DNA
2014 Standout
Genetic Discrimination: Perspectives of Consumers
1996 Science
Uptake of amino acids and thymidine during the first cell cycle of synchronized hamster cells
1976 StandoutNobel
Advances in molecular labeling, high throughput imaging and machine intelligence portend powerful functional cellular biochemistry tools
2002
Peptidomimetic Regulation of Growth Hormone Secretion
1997
Ghrelin is a growth-hormone-releasing acylated peptide from stomach
1999 StandoutNature
RADIOLOGICAL ASPECTS OF THE DISEASE
1967
Guidelines for the management of hemophilia
2012 Standout
Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood
2008
Lymphangiography of the Retroperitoneal Lymph Nodes through the Inguinal Route
1966
Works of L. Jackson being referenced
Genetic testing and insurance
1995
Chorionic mosaicism: Association with fetal loss but not with adverse perinatal outcome
1992
de Lange syndrome: A clinical review of 310 individuals
1993 Standout
First‐trimester trisomy screening: nuchal translucency measurement training and quality assurance to correct and unify technique
2002
Late First-Trimester Invasive Prenatal Diagnosis: Results of an International Randomized Trial
2004
Cornelia de Lange Syndrome: Otolaryngologic Manifestations
1990
Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data
2002
Submicroscopic deletions at 16p13.3 in Rubinstein-Taybi syndrome: frequency and clinical manifestations in a North American population.
1997
THE DIAGNOSTIC VALUE OF LYMPHANGIOGRAPHY
1961
Clinical applications of lymphangiography.
1962
Autoradiographic studies of the effects of inhibitors of protein synthesis on RNA synthesis in HeLa cells
1968