Citation Impact
Citing Papers
Incidence of congenital heart disease: I. Postnatal incidence
1995
Neurofibromatosis in childhood
1970
Ultrastructural Characterization of the Lower Motor System in a Mouse Model of Krabbe Disease
2016 Standout
Birth Prevalence of Congenital Heart Disease Worldwide
2011 Standout
A tension-based theory of morphogenesis and compact wiring in the central nervous system
1997 StandoutNature
NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21
2006 StandoutNature
Natural history of Williams syndrome: Physical characteristics
1988 Standout
Receptor Specificity of the Fibroblast Growth Factor Family
1996 Standout
Down syndrome
1990
Diffuse progressive pulmonary interstitial and intra-alveolar cholesterol granulomas in childhood
1996 StandoutNobel
Ageing as a risk factor for neurodegenerative disease
2019 Standout
Dendritic and synaptic pathology in mental retardation
1991
Specific reading disability (dyslexia): what have we learned in the past four decades?
2004 Standout
Executive Functions and Developmental Psychopathology
1996 Standout
Incidence of congenital heart disease: II. Prenatal incidence
1995
Dendritic Anomalies in Disorders Associated with Mental Retardation
2000 Standout
The central nervous system in the Apert syndrome
1990
Autism: Towards an Integration of Clinical, Genetic, Neuropsychological, and Neurobiological Perspectives
1996 Standout
Twenty-One Years of Experience With Minimally Invasive Repair of Pectus Excavatum by the Nuss Procedure in 1215 Patients
2010 Standout
Identification of cellular proteins binding to the scrapie prion protein
1990 StandoutNobel
Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome
1995 Standout
N-Acetylaspartate in the CNS: From neurodiagnostics to neurobiology
2007 Standout
Neurofibromatosis 2: Clinical and DNA Linkage Studies of a Large Kindred
1988
Cockayne syndrome: Review of 140 cases
1992
Lipoid pneumonia in infants: a radiological-pathological study
1991
Type 1 diabetes
2013 Standout
The incidence of congenital heart disease
2002 Standout
A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor
1993 Standout
Anti-Aβ Drug Screening Platform Using Human iPS Cell-Derived Neurons for the Treatment of Alzheimer's Disease
2011 StandoutNobel
Schizophrenia genes, gene expression, and neuropathology: on the matter of their convergence
2004 Standout
Neurogenesis impairment: An early developmental defect in Down syndrome
2017
Schizophrenia and the brain: a prospective clinico-neuropathological study
1990
Neglected Tropical Diseases in Sub-Saharan Africa: Review of Their Prevalence, Distribution, and Disease Burden
2009 Standout
GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5
2003 StandoutNature
Insulitis in human type 1 diabetes
2011
Down's syndrome
2003 Standout
Congenital chest wall deformities
1996
Impact of repeated mass treatment on human Oesophagostomum and hookworm infections in northern Ghana
2006
Health Supervision for Children With Down Syndrome
2011 Standout
Molecular genetics of Krabbe disease (globoid cell leukodystrophy): Diagnostic and clinical implications
1997
Cockayne syndrome: Clinical features, model systems and pathways
2016
Down syndrome
2020 Standout
Characteristics of medial temporal lobe epilepsy: I. Results of history and physical examination
1993 Standout
Neocortical Layer Formation of Human Developing Brains and Lissencephalies: Consideration of Layer-Specific Marker Expression
2010
A Controlled Trial of High-Dose Intravenous Immune Globulin Infusions as Treatment for Dermatomyositis
1993 Standout
Natural History of Congenital Heart Disease
1968
Changes in brain weights during the span of human life: Relation of brain weights to body heights and body weights
1978 Standout
THE INTERACTION OF PARTICULATE HORSERADISH PEROXIDASE (HRP)-ANTI HRP IMMUNE COMPLEXES WITH MOUSE PERITONEAL MACROPHAGES IN VITRO
1972 StandoutNobel
Thromboembolism and Cor Pulmonale Complicating Ventriculovenous Shunt
1967
Lissencephaly and pachygyria
1975
Experimentally induced focal microgyria and status verrucosus deformis in rats — Pathogenesis and interrelation histological and autoradiographical study
1978
Localized Cerebral Gliosis with Giant Neurons Histologically Resembling Tuberous Sclerosis*
1960
Polymyositis and Dermatomyositis
1975 Standout
Morphologic and histoanatomic observations of the brain in untreated human phenylketonuria
1982
Macrocranium and Neurofibromatosis
1973
The Natural Course of Infantile Pompe’s Disease: 20 Original Cases Compared With 133 Cases From the Literature
2003
BRAIN WEIGHT IN MENTAL DEFICIENCY
1961
Plasminogen Activators, Tissue Degradation, and Cancer
1985 Standout
INFLUENZAL ENCEPHALOPATHY AND POSTINFLUENZAL ENCEPHALITIS
1958
The elfin facies syndrome
1975
2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy
2011 Standout
Spongy degeneration of the central nervous system (Van Bogaert-Bertrand type?) in a newborn infant
1977
Anomalies in Down syndrome individuals in a large population-based registry
1998
Magnetic resonance imaging evidence for a defect of cerebral cortical development in autism
1990
Juvenile neuroaxonal dystrophy: Clinical, electrophysiological, and neuropathological features
1978
Yeast Nucleotide Excision Repair Proteins Rad2 and Rad4 Interact with RNA Polymerase II Basal Transcription Factor b (TFIIH)
1994 StandoutNobel
Disorders of Neuronal Migration
1987
THE INCIDENCE OF ATRIAL SEPTAL DEFECT IN ADULTS
1962
Inborn Lysosomal Diseases
1965
A role for gene therapy in mental retardation
1995
Yeast nucleotide excision repair proteins Rad2 and Rad4 interact with RNA polymerase II basal transcription factor b (TFIIH).
1994 StandoutNobel
Task Force 1: the changing profile of congenital heart disease in adult life
2001 Standout
Valvular heart disease (Aortic regurgitation and mitral valve prolapse) among institutionalized adults with down's syndrome
1986
Increased Prevalence of Renal and Urinary Tract Anomalies in Children With Down Syndrome
2009
Chronic Thromboembolic Pulmonary Hypertension
2006 Standout
Polymyositis and Dermatomyositis
1975 Standout
Conditional Deletion of Focal Adhesion Kinase Leads to Defects in Ventricular Septation and Outflow Tract Alignment
2007 StandoutNobel
A faulty negative feedback control underlies the schizophrenic syndrome?
1991 StandoutNobel
Vascular Deposits of Immunoglobulin and Complement in Idiopathic Inflammatory Myopathy
1972
Plasminogen activator in the developing rat cerebellum: Biosynthesis and localization in granular neurons
1983
Cor pulmonale as a complication of ventriculoatrial shunts
1970
Evoked Potentials in Clinical Medicine
1982 Standout
Intellectual development in Apert's syndrome: a long term follow up of 29 patients.
1988
Developmental dyslexia: Four consecutive patients with cortical anomalies
1985 Standout
Etiology and Pathogenesis of Temporal Lobe Epilepsy
1964
Porencephaly with microgyria: A pathologic study
1974
Pathological reaction of astrocytes in perinatal brain injury
1986
Focal dysplasia of the cerebral cortex in epilepsy
1971 Standout
High Frequency of Mitral Valve Prolapse and Aortic Regurgitation Among Asymptomatic Adults With Down's Syndrome
1987
Congenital heart disease in a cohort of 19,502 births with long-term follow-up
1978
Von Recklinghausen Neurofibromatosis
1981 Standout
Syndromes with lissencephaly. I: Millerdieker and Norman‐Roberts syndromes and isolated lissencephaly
1984
Migration of neuroblasts through partial necrosis of the cerebral cortex in newborn rats-contribution to the problems of morphological development and developmental period of cerebral microgyria
1977
Structures and chromosomal localizations of two human genes encoding synaptobrevins 1 and 2.
1990 StandoutNobel
Critical periods of vulnerability for the developing nervous system: evidence from humans and animal models.
2000 Standout
Down syndrome—a disruption of homeostasis
1983
EEG, pattern-evoked potentials and nerve conduction velocity in a family with adrenoleucodystrophy
1979
Cockayne syndrome group B protein enhances elongation by RNA polymerase II
1997 StandoutNobel
Prevention and Control of Influenza: Recommendations of the Advisory Committee on Immunization Practices (ACIP)
2001 Standout
Works of L. Crome being referenced
Cockayne's syndrome: case report
1971
A POSSIBLE CASE OF ATYPICAL TUBEROUS SCLEROSIS
1960
A Case of Central Neurofibromatosis
1962
Brain mechanisms in mental retardation
1977
Fulminating diabetes with lymphocytic thyroiditis.
1967
Galactocerebrosidase Deficiency in Globoid Cell Leucodystrophy of Late Onset
1972
Phenylketonuria
1960
SCLEROSIS OF THE CENTRUM SEMIOVALE IN A CASE OF INFANTILE CEREBRAL PALSY
1959
Schilder's disease (sudanophilic leucodystrophy) in five male members of one family
1963
Oil Aspiration Pneumonia in Infancy
1951
Maple syrup urine disease
1961
SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY ASSOCIATED WITH RENAL AND ARTERIAL LESIONS
1970
Infantile neuroaxonal dystrophy.
1965
CONGENITAL CARDIAC MALFORMATIONS IN MONGOLISM
1960
A Critique of Current Views on Acrocephaly and Related Conditions
1961
THE ASSOCIATION OF PHENYLKETONURIA WITH LEUCODYSTROPHY
1962
Encephalitis During an Epidemic of Influenza
1954
PATHOLOGICAL FEATURES IN THE DE LANGE SYNDROME
1969
A MORPHOLOGICAL CRITIQUE OF TEMPORAL LOBECTOMY
1955
The Brain and Mental Retardation
1960
INFANTILE CEREBRAL GLIOSIS WITH GIANT NERVE CELLS
1957
Oesophagostomiasis in man.
1979
LATE ONSET GLOBOID CELL LEUCODYSTROPHY
1973
Neuropathological and neurochemical aspects of generalized glycogen storage disease
1963
A Case of Severe Hypercalcaemia of Infancy with an Account of the Neuropathological Findings
1960
Pachygyria
1956
Cerebro-costo-mandibular Syndrome: A New Familial Developmental Disorder
1970
Main pathological findings in hydrocephalic children treated by ventriculo-atrial shunt.
1966
Microgyria
1952
A case of central neurofibromatosis
1954