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
Identification of a Primary Target of Thalidomide Teratogenicity
2010 StandoutScience
Normal gut microbiota modulates brain development and behavior
2011 Standout
2014 AHA/ACC Guideline for the Management of Patients With Valvular Heart Disease
2014 Standout
2014 AHA/ACC Guideline for the Management of Patients With Valvular Heart Disease
2014 Standout
2014 AHA/ACC Guideline for the Management of Patients With Valvular Heart Disease: Executive Summary
2014 Standout
Platelet factor 4–induced T H 1-T reg polarization suppresses antitumor immunity
2024 StandoutScienceNobel
The promise and challenge of therapeutic genome editing
2020 StandoutNatureNobel
Understanding adolescence as a period of social–affective engagement and goal flexibility
2012 Standout
Hoxb2 and Hoxb4 Act Together to Specify Ventral Body Wall Formation
2001 StandoutNobel
Hedgehog: functions and mechanisms
2008 Standout
Cognition and the Sex Chromosomes: Studies in Turner Syndrome
2006
Elevated expression of CXC chemokines in pediatric osteosarcoma patients
2010
Elements of cancer immunity and the cancer–immune set point
2017 StandoutNature
Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development
2005
Socioeconomic Inequality in the Prevalence of Autism Spectrum Disorder: Evidence from a U.S. Cross-Sectional Study
2010
DNA methylation patterns and epigenetic memory
2002 Standout
Epigenetics in human disease and prospects for epigenetic therapy
2004 StandoutNature
Tumor suppressor p53 represses transcription of RECQ4 helicase
2005
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
1994 StandoutNature
Microcephaly: An epidemiologic analysis
2003
Hallmarks of aging: An expanding universe
2023 Standout
Telomeres and mechanisms of Robertsonian fusion
1998
Cohort effects explain the increase in autism diagnosis among children born from 1992 to 2003 in California
2011
The ICF syndrome, a DNA methyltransferase 3B deficiency and immunodeficiency disease
2003
Elements of morphology: Introduction
2009
Complete and partial XY sex reversal associated with terminal deletion of 10q: Report of 2 cases and literature review
1993
Identification and Evaluation of Children With Autism Spectrum Disorders
2007
Sinistral Snails and Gentlemen Scientists
2005 StandoutNobel
Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study
2011 Standout
Predicting the Functional Effect of Amino Acid Substitutions and Indels
2012 Standout
Advancing paternal age and risk of autism: new evidence from a population-based study and a meta-analysis of epidemiological studies
2010
An atlas of genetic correlations across human diseases and traits
2015 Standout
Disruption of an Evolutionarily Novel Synaptic Expression Pattern in Autism
2016 StandoutNobel
Pathophysiology of premature aging characteristics in Mendelian progeroid disorders
2020
A general framework for estimating the relative pathogenicity of human genetic variants
2014 Standout
Left–right asymmetry in embryonic development: a comprehensive review
2004
OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders
2014 Standout
Care of Girls and Women with Turner Syndrome: A Guideline of the Turner Syndrome Study Group
2006
Identification and high-resolution mapping of a constitutional 11q deletion in an infant with multifocal neuroblastoma
2003
Blinded by the Light: The Growing Complexity of p53
2009 Standout
Turner syndrome: the case of the missing sex chromosome
1993
The cornified envelope: a model of cell death in the skin
2005 Standout
Biochemical characterization of the RECQ4 protein, mutated in Rothmund-Thomson syndrome
2005
Interstitial deletion of 10q: Clinical features and literature review
1992
Social and demographic factors that influence the diagnosis of autistic spectrum disorders
2010
Cause and Consequences of Genetic and Epigenetic Alterations in Human Cancer
2008
The Human Phenotype Ontology
2010
Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: Does abnormal cholesterol metabolism affect the function ofsonic hedgehog?
1996
The 6‐minute walk test in Duchenne/Becker muscular dystrophy: Longitudinal observations
2010
DNA demethylation and pericentromeric rearrangements of chromosome 1
1997
The international society for developmental psychobiology annual meeting symposium: Impact of early life experiences on brain and behavioral development
2006
The NHGRI GWAS Catalog, a curated resource of SNP-trait associations
2013 Standout
Parental Age and Risk of Autism Spectrum Disorders in a Finnish National Birth Cohort
2013
Autism
2013 Standout
Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly
1996 Standout
Physiology of Local Renin-Angiotensin Systems
2006 Standout
Maternal Overweight and Obesity and the Risk of Congenital Anomalies
2009 Standout
Neuroblastoma
2007 Standout
Male predominance in autism: neuroendocrine influences on arousal and social anxiety
2011
Reversal of Hox1 Gene Subfunctionalization in the Mouse
2006 StandoutNobel
DNA Methyltransferases Dnmt3a and Dnmt3b Are Essential for De Novo Methylation and Mammalian Development
1999 Standout
The genetics of autistic disorders and its clinical relevance: a review of the literature
2006
Molecular Characterization of Breakpoints in Patients with Holoprosencephaly and Definition of the HPE2 Critical Region 2p21
1996
The Shortest Telomere, Not Average Telomere Length, Is Critical for Cell Viability and Chromosome Stability
2001 StandoutNobel
Risks of angiotensin-converting enzyme inhibition during pregnancy: Experimental and clinical evidence, potential mechanisms, and recommendations for use
1994
Familial holoprosencephaly associated with a translocation breakpoint at chromosomal position 7q36
1991
Advancing Maternal Age Is Associated With Increasing Risk for Autism: A Review and Meta-Analysis
2012
Randomization of Left–Right Asymmetry due to Loss of Nodal Cilia Generating Leftward Flow of Extraembryonic Fluid in Mice Lacking KIF3B Motor Protein
1998 Standout
Gap Junctions Are Involved in the Early Generation of Left–Right Asymmetry
1998
Controlling Cell Behavior Electrically: Current Views and Future Potential
2005 Standout
Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome
2000
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly
1996 Standout
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
2011
Intracardiac fluid forces are an essential epigenetic factor for embryonic cardiogenesis
2003 StandoutNature
Critical period of rat development when sidedness of asymmetric body structures is determined
1991
Mutations in SUFU predispose to medulloblastoma
2002 Standout
Congenital anomalies associated with autism spectrum disorders
2006
The 11q terminal deletion disorder: A prospective study of 110 cases
2004
Whole-genome methylation scan in ICF syndrome: hypomethylation of non-satellite DNA repeats D4Z4 and NBL2
2000
A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation
2004
An overview of the influence of ACE inhibitors on fetal-placental circulation and perinatal development
1997
Aberrant Renal Vascular Morphology and Renin Expression in Mutant Mice Lacking Angiotensin-Converting Enzyme
1997 StandoutNobel
EUKARYOTIC CYTOSINE METHYLTRANSFERASES
2005 Standout
Clinical Practice Pathways for Evaluation and Medication Choice for Attention-Deficit/Hyperactivity Disorder Symptoms in Autism Spectrum Disorders
2012
Angiotensin-converting enzyme inhibitor fetopathy.
1993
Functional Coherence of the Human Y Chromosome
1997 StandoutScience
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
Identification of a Chromosome 11q23.2-q24 Locus for Familial Aortic Aneurysm Disease, a Genetically Heterogeneous Disorder
2001
Thoracic and Abdominal Aortic Aneurysms
2005 Standout
Prevalence and Characteristics of Autism Spectrum Disorder Among Children Aged 8 Years — Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2012
2016
A γGT-AT1Areceptor transgene protects renal cortical structure in AT1receptor-deficient mice
2004 StandoutNobel
2020 ACC/AHA Guideline for the Management of Patients With Valvular Heart Disease: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines
2020 Standout
Conditional Deletion of Focal Adhesion Kinase Leads to Defects in Ventricular Septation and Outflow Tract Alignment
2007 StandoutNobel
Developmental biology of the vertebrate heart
1996
Recurrence of diaphragmatic agenesis associated with multiple midline defects: Evidence for an autosomal gene regulating the midline
1994
Hoxc10 and Hoxd10 regulate mouse columnar, divisional and motor pool identity of lumbar motoneurons
2007 StandoutNobel
Human exonuclease 1 and BLM helicase interact to resect DNA and initiate DNA repair
2008 StandoutNobel
Genetic aspects of atrioventricular septal defects
2000
Single-cut genome editing restores dystrophin expression in a new mouse model of muscular dystrophy
2017
Six Developmental Trajectories Characterize Children With Autism
2012
An overview of the influence of ACE inhibitors on fetal-placental circulation and perinatal development
1997
Neurodevelopmental Outcomes in Children With Congenital Heart Disease: Evaluation and Management
2012 Standout
Works of Christopher Cunniff being referenced
Prevalence of Duchenne/Becker muscular dystrophy among males aged 5-24 years–Four states, 2007
2009
Pentalogy of Cantrell and ectopia cordis, a familial developmental field complex
1992
Oligohydramnios sequence and renal tubular malformation associated with maternal enalapril use
1990
Elements of morphology: Standard terminology for the head and face
2009
Association Between Osteosarcoma and Deleterious Mutations in the RECQL4 Gene in Rothmund-Thomson Syndrome
2003
Evaluation of mental retardation: Recommendations of a consensus conference
1997
Laterality defects in conjoined twins: Implications for normal asymmetry in human embryogenesis
1988
Autism Spectrum Disorder and Co-occurring Developmental, Psychiatric, and Medical Conditions Among Children in Multiple Populations of the United States
2010
Terminal deletions of the long arm of chromosome 7: Five new cases
1990
Advanced Parental Age and the Risk of Autism Spectrum Disorder
2008
Patterns of malformation in children with congenital diaphragmatic defects
1990
Delayed Diagnosis in Duchenne Muscular Dystrophy: Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet)
2009
Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition
2016
Public health monitoring of developmental disabilities with a focus on the autism spectrum disorders
2004
Duplication and deletion of chromosome band 2(p21p22) resulting from a familial interstitial insertion (2;11)(p21;p15)
1994
Phenotype and X inactivation in 45,X/46,X,r(X) cases
2004
Chromosome instability in ICF syndrome: Formation of micronuclei from multibranched chromosomes 1 demonstrated by fluorescence in situ hybridization
1995
Athabascan brainstem dysgenesis syndrome
2003
Chromosome 10qter deletion syndrome: A review and report of three new cases
1989
Potential Impact ofDSM-5Criteria on Autism Spectrum Disorder Prevalence Estimates
2014
Second-trimester markers of fetal size in schizophrenia: a study of monozygotic twins
1992
Ovarian dysgenesis in individuals with chromosomal abnormalities
1991
Fryns Syndrome: An Autosomal Recessive Disorder Associated With Craniofacial Anomalies, Diaphragmatic Hernia, and Distal Digital Hypoplasia
1990
Clinical and molecular characterization of patients with distal 11q deletions.
1995
Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism
1997
Prevalence of Duchenne and Becker Muscular Dystrophies in the United States
2015
Cardiovascular malformations in Smith-Lemli-Opitz syndrome
1997