Citation Impact
Citing Papers
2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the Diagnosis and Management of Patients With Thoracic Aortic Disease
2010 Standout
Human-specific gene ARHGAP11B promotes basal progenitor amplification and neocortex expansion
2015 StandoutScienceNobel
Diagnosis and management of acute myeloid leukemia in adults: recommendations from an international expert panel, on behalf of the European LeukemiaNet
2009 Standout
FMR1 and the fragile X syndrome: Human genome epidemiology review
2001
Morphological Features in Children with Autism Spectrum Disorders: A Matched Case–Control Study
2010
Hippocampal transcriptome analysis following maternal separation implicates altered RNA processing in a mouse model of fetal alcohol spectrum disorder
2020
Vascular Development
2010
Insertional translocations: Report of two new families and review of the literature
1988
Pulmonary atresia with intact ventricular septum
2002
Synapses and Alzheimer's Disease
2012 StandoutNobel
Developmental neurotoxicity of industrial chemicals
2006 Standout
A review on cognitive and brain endophenotypes that may be common in autism spectrum disorder and attention-deficit/hyperactivity disorder and facilitate the search for pleiotropic genes
2011
An essential role for Notch in neural crest during cardiovascular development and smooth muscle differentiation
2007
Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome
1997
Epithelial-Mesenchymal Transitions in Development and Disease
2009 Standout
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
1994 StandoutNature
TGFβ signalling in context
2012 Standout
Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype
2019 Standout
STRING v10: protein–protein interaction networks, integrated over the tree of life
2014 Standout
A Novel Transcription Factor, T-bet, Directs Th1 Lineage Commitment
2000 Standout
DNA duplication associated with Charcot-Marie-Tooth disease type 1A
1991 Standout
Notch signaling in the developing cardiovascular system
2007
Detection of large-scale variation in the human genome
2004 Standout
Breast milk and neonatal necrotising enterocolitis
1990 Standout
Neural-Tube Defects
1999 Standout
Network medicine: a network-based approach to human disease
2010 Standout
Analysis of Missed Cases of Abusive Head Trauma
1999 Standout
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition
2011
Greig syndrome in a large kindred due to reciprocal chromosome translocation t(6;7)(q27;p13)
1989
Anti-Dll4 therapy: can we block tumour growth by increasing angiogenesis?
2007
The Vertebrate Primary Cilium in Development, Homeostasis, and Disease
2009
Greig cephalopolysyndactyly syndrome: A possible mouse homologue (Xt‐extra toes)
1988
Cleft lip and palate
2009 Standout
Reelin, lipoprotein receptors and synaptic plasticity
2006
Williams–Beuren Syndrome
2010 Standout
Wnt/β-Catenin Signaling: Components, Mechanisms, and Diseases
2009 Standout
Child Neurodevelopmental Outcome and Maternal Occupational Exposure to Solvents
2004
A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism
2017 StandoutNobel
Nonaccidental Head Injury in Infants — The “Shaken-Baby Syndrome”
1998 Standout
Mutation of the Mg2+ Transporter SLC41A1 Results in a Nephronophthisis-Like Phenotype
2013
Genetic Basis for Congenital Heart Defects: Current Knowledge
2007
High Affinity Neurexin Binding to Cell Adhesion G-protein-coupled Receptor CIRL1/Latrophilin-1 Produces an Intercellular Adhesion Complex
2012 StandoutNobel
Pregnancy outcome in hematologic malignancies
1991
Walking the Interactome for Prioritization of Candidate Disease Genes
2008
The incidence of congenital heart disease
2002 Standout
Autistic Spectrum Disorders in Velo-cardio Facial Syndrome (22q11.2 Deletion)
2006
Neuroligins and neurexins link synaptic function to cognitive disease
2008 StandoutNatureNobel
Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes
2002
GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5
2003 StandoutNature
Basic and Therapeutic Aspects of Angiogenesis
2011 Standout
Segregation of a paternal insertional translocation results in partial 4q monosomy or 4q trisomy in two siblings
1996
Impaired Wnt–β-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy
2009
Lessons on the pathogenesis of aneurysm from heritable conditions
2011 Nature
Founder population-specific HapMap panel increases power in GWA studies through improved imputation accuracy and CNV tagging
2010
Chromosomal localisation of a developmental gene in man: Direct DNA analysis demonstrates that Greig cephalopolysyndactyly maps to 7p13
1988
Idiopathic pulmonary fibrosis
2011 Standout
The 22q11 deletion syndromes
2000
Contribution of SHANK3 Mutations to Autism Spectrum Disorder
2007
Diagnosis, Treatment, and Long-Term Management of Kawasaki Disease: A Scientific Statement for Health Professionals From the American Heart Association
2017 Standout
Cell regulation: determined to signal discrete cooperation
2009
STRING 8--a global view on proteins and their functional interactions in 630 organisms
2008 Standout
Novel Primate miRNAs Coevolved with Ancient Target Genes in Germinal Zone-Specific Expression Patterns
2014
Tumor Angiogenesis
2008 Standout
Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms
2003
Rare fragile sites
2003
DNA methylation and human disease
2005 Standout
Differential epithelial expression of SHH and FOXF1 in usual and nonspecific interstitial pneumonia
2006
ToppGene Suite for gene list enrichment analysis and candidate gene prioritization
2009 Standout
A mouse model of Greig cephalo–polysyndactyly syndrome: the extra–toesJ mutation contains an intragenic deletion of the Gli3 gene
1993 Standout
Human disorders of cortical development: from past to present
2006
Genetic Basis of Thoracic Aortic Aneurysms and Dissections: Focus on Smooth Muscle Cell Contractile Dysfunction
2008
The marker (X) syndrome: a cytogenetic and genetic analysis
1984
2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the Diagnosis and Management of Patients With Thoracic Aortic Disease
2010 Standout
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
1991 Standout
The Greig cephalopolysyndactyly syndrome: Report of a family and review of the literature
1985
Magnesium in Man: Implications for Health and Disease
2014 Standout
Cystic diseases of the kidney: ciliary dysfunction and cystogenic mechanisms
2010
Separating endogenous ancient DNA from modern day contamination in a Siberian Neandertal
2014 StandoutNobel
Greig cephalopolysyndactyly: report of 13 affected individuals in three families
1983
High alkaline phosphatase activity and growth in preterm neonates.
1989
2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy
2011 Standout
Abnormal dendritic spines in fragile X knockout mice: Maturation and pruning deficits
1997 Standout
ACC/AHA 2008 Guidelines for the Management of Adults With Congenital Heart Disease: Executive Summary
2008 Standout
Segregation of a familial balanced (12;10) insertion resulting in dup(10)(q21.2q22.1) and del(10)(q21.2q22.1) in first cousins
1997 StandoutNobel
New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13
1984
The extracellular matrix geneFrem1is essential for the normal adhesion of the embryonic epidermis
2004 StandoutNobel
AnFgf8mouse mutant phenocopies human 22q11 deletion syndrome
2002 StandoutNobel
Partial deletion of distal 17q
1985
Segregation of an insertional chromosome rearrangement in 3 generations.
1978
Different TBX5 interactions in heart and limb defined by Holt–Oram syndrome mutations
1999
Classification of Intrinsically Disordered Regions and Proteins
2014 Standout
Autism-linked neuroligin-3 R451C mutation differentially alters hippocampal and cortical synaptic function
2011 StandoutNobel
Fmr1 knockout mice: A model to study fragile X mental retardation
1994
Prevention and Treatment of Thrombosis in Pediatric and Congenital Heart Disease
2013
Olfactory Receptor–Gene Clusters, Genomic-Inversion Polymorphisms, and Common Chromosome Rearrangements
2001
Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome
1999
The Genetic Basis of the Pierre Robin Sequence
2006
Cby1 promotes Ahi1 recruitment to a ring-shaped domain at the centriole–cilium interface and facilitates proper cilium formation and function
2014 StandoutNobel
Clinical Approach to Genetic Cardiomyopathy in Children
1996
Interstitial deletion of (17)(p11.2p11.2) in nine patients
1986
Transcriptomes of germinal zones of human and mouse fetal neocortex suggest a role of extracellular matrix in progenitor self-renewal
2012 StandoutNobel
Terminal 22q Deletion Syndrome: A Newly Recognized Cause of Speech and Language Disability in the Autism Spectrum
2004
A familial reciprocal translocation t(3;7) (p21.1;p13) associated with the Greig polysyndactyly‐craniofacial anomalies syndrome
1983
Structures and chromosomal localizations of two human genes encoding synaptobrevins 1 and 2.
1990 StandoutNobel
Neurodevelopmental Outcomes in Children With Congenital Heart Disease: Evaluation and Management
2012 Standout
Works of Albert E. Chudley being referenced
Population-based prevalence of fetal alcohol spectrum disorder in Canada
2019
Ulnar agenesis and endocardial fibroelastosis
1990
Low MSAFP levels and Williams syndrome
1997
Interstitial deletion of the long arm of chromosome 4
1988
Solvent Abuse in Pregnancy: A Perinatal Perspective
2002
Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype
2000
Outcomes of Genetic Evaluation in Children with Pervasive Developmental Disorder
1998
Frequency of FMR1 Premutations in a Consecutive Newborn Population by PCR Screening of Guthrie Blood Spots
1995
Familial transmission of a small supernumerary marker chromosome 8 identified by FISH: An update
1997
Subtelomeric deletions of chromosome 6p: Molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher?Schinzel (3C) syndrome
2005
The DLX1and DLX2 genes and susceptibility to autism spectrum disorders
2008
Functional Evaluation of Hidden Figures Object Analysis in Children with Autistic Disorder
2010
Unique disease heritage of the Dutch‐German Mennonite population
2008
Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis
2007
Phenotypic variability in glutaric aciduria type I: Report of fourteen cases in five Canadian Indian kindreds
1991
New familial syndrome of unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies in Manitoba Indians
1992
Homozygous Deletion of the Very Low Density Lipoprotein Receptor Gene Causes Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification
2005
Face–brain asymmetry in autism spectrum disorders
2008
Ring chromosome 17 in a mentally retarded young man—clinical, cytogenetic, and biochemical investigations
1982
Autism in fragile X females
1986
Familial mental retardation in a family with an inherited chromosome rearrangement
1974
The greig cephalopolysyndactyly syndrome in a canadian family
1982
The Upper Limb-cardiovascular Syndrome
1976
Fragile (X) X‐linked mental retardation I: Relationship between age and intelligence and the frequency of expression of fragil (X)(q28)
1983
Successful pregnancy following continuous treatment with combination chemotherapy before conception and throughout pregnancy
1984
Nutritional rickets in 2 very low birthweight infants with chronic lung disease.
1980
Vascular Anomalies in Alagille Syndrome
2004
Fragile 19p13 in a family with mental illness
1987
Pulmonary Atresia with Intact Ventricular Septum and Major Aortopulmonary Collaterals: Association with Deletion 22q11.2
2003