Standout Papers
Citation Impact
Citing Papers
Histone demethylase KDM6A directly senses oxygen to control chromatin and cell fate
2019 StandoutScienceNobel
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
Persistent epigenetic differences associated with prenatal exposure to famine in humans
2008 Standout
The EGLN-HIF O 2 -Sensing System: Multiple Inputs and Feedbacks
2017 StandoutNobel
HIF Hydroxylase Pathways in Cardiovascular Physiology and Medicine
2015 StandoutNobel
Microcephaly Syndromes
2007
Association of In Vitro Fertilization with Beckwith-Wiedemann Syndrome and Epigenetic Alterations of LIT1 and H19
2003
Poland's syndrome and recessive X-linked ichthyosis in two brothers
2000
CDK inhibitors: positive and negative regulators of G1-phase progression
1999 Standout
Disruption of insulin–like growth factor 2 imprinting in Beckwith–Wiedemann syndrome
1993
DNA Sequencing versus Standard Prenatal Aneuploidy Screening
2014 Standout
Supravalvular aortic stenosis cosegregates with a familial 6;7 translocation which disrupts the elastin gene
1993
Insulin-IGF2 region on chromosome 11p encodes a gene implicated in HLA-DR4-dependent diabetes susceptibility
1991 Nature
DNA methylation patterns and epigenetic memory
2002 Standout
Melanin Pigmentation in Mammalian Skin and Its Hormonal Regulation
2004 Standout
Histone lysine demethylases as targets for anticancer therapy
2013
Huntington's disease
2007 Standout
Autistic spectrum disorders in Möbius sequence: a comprehensive study of 25 individuals
2001
Congenital abnormalities in Brazilian children associated with misoprostol misuse in first trimester of pregnancy
1998
Is There a Zone of Vascular Vulnerability in the Fetal Brain Stem?
1997
Poland anomaly with a limb body wall disruption defect: Case report and review
1992
Möbius sequence: Further in vivo support for the subclavian artery supply disruption sequence
1993
Relaxation of imprinted genes in human cancer
1993 Nature
Poland‐Moebius syndrome in a boy and Poland syndrome in his mother
1991
Association of Atrial Septal Defect with Poland-Moebius Syndrome: Vascular Disruption Can Be a Common Etiologic Factor
1997
Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith–Wiedemann and Simpson–Golabi–Behmel syndromes
1997
A Rare Branch-Point Mutation Is Associated with Missplicing of Fibrillin-2 in a Large Family with Congenital Contractural Arachnodactyly
1997
Neural-Tube Defects
1999 Standout
A fine-structure deletion map of human chromosome 11p: Analysis of J1 series hybrids
1989
Cell-free DNA Analysis for Noninvasive Examination of Trisomy
2015 Standout
Teratogen update: Gestational effects of maternal hyperthermia due to febrile illnesses and resultant patterns of defects in humans
1998
The effect of hypoxia in development
2007
Tumor suppressor genes
1991 Standout
Genomic imprinting in mammalian development: a parental tug-of-war
1991
Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping
1990 StandoutNature
Ocular and Clinical Manifestations of Möbius' Syndrome
2001
WNT signaling in bone homeostasis and disease: from human mutations to treatments
2013 Standout
Methylation of a CTCF-dependent boundary controls imprinted expression of the Igf2 gene
2000 StandoutNature
Neural tube defects and the 13q deletion syndrome: Evidence for a critical region in 13q33-34
2000
Cleft lip and palate
2009 Standout
Predictive testing for Huntington disease in Canada: Adverse effects and unexpected results in those receiving a decreased risk
1992
Wnt/β-Catenin Signaling and Disease
2012 Standout
Wnt/β-Catenin Signaling: Components, Mechanisms, and Diseases
2009 Standout
Disruption of a Novel Imprinted Zinc-Finger Gene, ZNF215, in Beckwith-Wiedemann Syndrome
2000
Novel exon skipping mutation in the fibrillin‐1 gene: Two ‘hot spots’ for the neonatal Marfan syndrome
1999
Moebius syndrome: Animal model—human correlations and evidence for a brainstem vascular etiology
1989
High Bone Density Due to a Mutation in LDL-Receptor–Related Protein 5
2002
Zika Virus
2016
CHARGE syndrome: an update
2007
Möbius and Möbius-Like Syndromes (TTV-OFM, OMLH)
1989
X-inactivation profile reveals extensive variability in X-linked gene expression in females
2005 StandoutNature
Human Splicing Finder: an online bioinformatics tool to predict splicing signals
2009 Standout
Arthrogryposis: A Review and Update
2009
Ten novelFBN2mutations in congenital contractural arachnodactyly: Delineation of the molecular pathogenesis and clinical phenotype
2001
Potent Prostaglandin A1 Analogs That Suppress Tumor Cell Growth through Induction of p21 and Reduction of Cyclin E
1998 StandoutNobel
Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology
1989
Noonan syndrome with café‐au‐lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus
1995
Imprinting Capacity of Gamete Lineages in Caenorhabditis elegans
2005 StandoutNobel
Beckwith–Wiedemann syndrome
2009
Distal arthrogryposis type 1: Clinical analysis of a large kindred
1996
Cell cycle, CDKs and cancer: a changing paradigm
2009 Standout
Zika Virus and Birth Defects — Reviewing the Evidence for Causality
2016 Standout
Evidence of Heterogeneity and Quantitative Differences of the Type 1 5α-Reductase Expression in Cultured Human Skin Cells – Evidence of its Presence in Melanocytes
1998
Inhibitors of mammalian G1 cyclin-dependent kinases.
1995 Standout
Poland sequence with dextrocardia: Which comes first?
1997
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly
1996 Standout
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
1991 StandoutNature
Classification of hand anomalies in Poland's syndrome
2001
Mice Lacking p21CIP1/WAF1 undergo normal development, but are defective in G1 checkpoint control
1995 Standout
Lower extremity counterpart of the Poland syndrome
1999
Poland’s syndrome revisited
2002 Standout
Gene regulation by steroid hormones
1989 Standout
Wnt/β-Catenin Signaling, Disease, and Emerging Therapeutic Modalities
2017 Standout
Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome
1993 Standout
CHD7 cooperates with PBAF to control multipotent neural crest formation
2010 StandoutNature
Möbius Syndrome: Classification and Grading System
1998
Familial Wiedemann-Beckwith syndrome and a second Wilms tumor locus both map to 11p15.5.
1989
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
1991 Standout
Smoking during pregnancy and Poland sequence: Results of a population-based registry and a case-control registry
1999
Autistic spectrum disorders in Möbius sequence: a comprehensive study of 25 individuals
2001
Sequence of centromere separation: orderly separation of multicentric chromosomes in mouse L cells
1984
Congenital anomalies in twins.
1986
Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus
1990 Standout
Betti reaction enables efficient synthesis of 8-hydroxyquinoline inhibitors of 2-oxoglutarate oxygenases
2015 StandoutNobel
Breast cancer in two patients with Poland’s syndrome
1999
Cancer Cell Cycles
1996 StandoutScience
Chromatin and oxygen sensing in the context of JmjC histone demethylases
2014
Reconstructing the DNA Methylation Maps of the Neandertal and the Denisovan
2014 StandoutScienceNobel
The Diagnostic Evaluation and Multidisciplinary Management of Neurofibromatosis 1 and Neurofibromatosis 2
1997 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
Circulating Fetal Cell-Free DNA Fractions Differ in Autosomal Aneuploidies and Monosomy X
2013
Chromosomal basis of X chromosome inactivation: Identification of a multigene domain in Xp11.21-p11.22 that escapes X inactivation
1998
Poland anomaly with contralateral ulnar ray defect.
1993
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis
2013 StandoutNobel
A genetic analysis of dicentric minichromosomes in saccharomyces cerevisiae
1987 StandoutNobel
Mobius syndrome redefined
2003 Standout
Cloning of Human Androgen Receptor Complementary DNA and Localization to the X Chromosome
1988 Science
Möbius' Syndrome: Features and Etiology
1998
Arthrogryposis, ophthalmoplegia, and retinopathy: confirmation of a new type of arthrogryposis.
1993
Genetic Dissection of Complex Traits
1994 StandoutScience
Controls of Hair Follicle Cycling
2001 Standout
Developmental regulation of a cyclin-dependent kinase inhibitor controls postembryonic cell cycle progression in Caenorhabditis elegans
1998 StandoutNobel
Genomic analysis of orthologous mouse and human olfactory receptor loci
2001 StandoutNobel
p57KIP2, a structurally distinct member of the p21CIP1 Cdk inhibitor family, is a candidate tumor suppressor gene.
1995
Inherited 5α-reductase deficiency in man
1986
Effects of DNA methylation on topoisomerase I and II cleavage activities.
1994 StandoutNobel
Characterization and expression of a cDNA encoding the human androgen receptor.
1989
Epigenetic mechanisms underlying the imprinting of the mouse H19 gene.
1993 StandoutNobel
Breast and Pectoralis Muscle Hypoplasia
1996
Breast and Pectoralis Muscle Hypoplasia
1996
Works of David D. Weaver being referenced
Vascular-type disruptive defects in fetuses with homozygous α-thalassemia: report of two cases and review of the literature
2005
Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicism
2013
Familial distal arthrogryposis with craniofacial abnormalities: A new subtype of type II?
1989
Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia
2008
Holoprosencephaly, ear abnormalities, congenital heart defect, and microphallus in a patient with 11q–mosaicism
1989
Hypogonadism and CHARGE association
2000
Bone mineral density and laboratory evaluation of a type II autosomal dominant osteopetrosis carrier
1999
Fetal brain disruption sequence
1990
Oculo-auriculo-vertebral spectrum and the CHARGE association
1996
The neurofibromatosis‐Noonan syndrome
1985
Dicentric chromosome 13 and centromere inactivation
1983
Study of two cases of ring 13 chromosome using high-resolution banding.
1981
Presymptomatic testing for Huntington chorea: Guidelines for moral and social accountability
1987
Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature
1986
Failure of X inactivation in the autosomal segment of an X/A translocation.
1980
Terminal and interstitial deletions of the long arm of chromosome 7: A review with five new cases
1984
Congenital contractural arachnodactyly Report of four additional families and review of literature
1985
GENITOURINARY ANOMALIES IN THE CHARGE ASSOCIATION
1999
Subclavian artery supply disruption sequence: Hypothesis of a vascular etiology for Poland, Klippel‐Feil, and Möbius anomalies
1986 Standout
A mutation that causes lability of the androgen receptor under conditions that normally promote transformation to the DNA-binding state.
1984
Part II. Amyoplasia: Twinning in amyoplasia—a specific type of arthrogryposis with an apparent excess of discordantly affected identical twins
1983
De novo 10q22 interstitial deletion
1999