Citation Impact
Citing Papers
Identification of Novel Genes Coding for Small Expressed RNAs
2001 StandoutScience
Gene Dose of Apolipoprotein E Type 4 Allele and the Risk of Alzheimer's Disease in Late Onset Families
1993 StandoutScience
Neurofibromatosis type 2 appears to be a genetically homogeneous disease.
1992
Familial alzheimer's disease in american descendants of the volga germans: Probable genetic founder effect
1988
Human red cell Aquaporin CHIP. II. Expression during normal fetal development and in a novel form of congenital dyserythropoietic anemia.
1994 StandoutNobel
Modular regulatory principles of large non-coding RNAs
2012 StandoutNature
Monoallelic expression of the human H19 gene
1992
Prions and Neurodegenerative Diseases
1987 StandoutNobel
Cellular senescence in aging and age-related disease: from mechanisms to therapy
2015 Standout
Chromatin signature reveals over a thousand highly conserved large non-coding RNAs in mammals
2009 StandoutNature
Alzheimer's disease
2011 Standout
A genetic model for colorectal tumorigenesis
1990 Standout
Hearing preservation surgery for neurofibromatosis Type 2–related vestibular schwannoma in pediatric patients
2007
A radiation hybrid map of the region on human chromosome 22 containing the neurofibromatosis type 2 locus
1992
CPC: assess the protein-coding potential of transcripts using sequence features and support vector machine
2007 Standout
Assessment of chromosome 22 anomalies in neurinomas by combined karyotype and RFLP analyses
1990
Hippo Pathway in Organ Size Control, Tissue Homeostasis, and Cancer
2015 Standout
Genetics of Alzheimer disease in the pre- and post-GWAS era
2010
Neurofibromatosis 1 (Recklinghausen Disease) and Neurofibromatosis 2 (Bilateral Acoustic Neurofibromatosis)
1990
Neuropathological stageing of Alzheimer-related changes
1991 Standout
Multiple sclerosis
2008 Standout
Three novel types of splicing aberrations in the tuberous sclerosis TSC2 gene caused by mutations apart from splice consensus sequences11Accession numbers and URLs for data in this article are as follows: Online Mendelian Inheritance in Man: http://www.ncbi.nlm.nih.gov/omim. For TSC1 (MIM 191100) and TSC2 (MIM 191092). The Human Gene Mutation Data Base, Cardiff (HGMD): http://www.uwcm.acuk/uwcm/mg. For TSC1 120735 and for TSC2 120466. TSC Variation Database: http://www.expmed.bwh.harvard.edu/projects/tsc_database. GenBank: http://www.ncbi.nlm.nih.gov/Genbank. For TSC2 cDNA X75621 and TSC2 complete genomic sequence AC005600.
2000
Loss of chromosome 22 alleles in human sporadic spinal schwannomas
1991
Ocular Abnormalities in Neurofibromatosis 2
1995
Constitutional p53 mutations associated with brain tumors in young adults
1995
Neurofibromatosis 2 (NF2): Clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity
1994
Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population
1995
The Association of Posterior Capsular Lens Opacities With Bilateral Acoustic Neuromas in Patients With Neurofibromatosis Type 2
1989
Screening for germ‐line mutations in the NF2 Gene
1995
The NF2 tumor suppressor gene product, merlin, mediates contact inhibition of growth through interactions with CD44
2001
Human Splicing Finder: an online bioinformatics tool to predict splicing signals
2009 Standout
New markers for the neurofibromatosis-2 region generated by microdissection of chromosome 22
1991
Neurofibromatosis 2: Clinical and DNA Linkage Studies of a Large Kindred
1988
Epidemiology of Brain Tumors
2007
The Merlin/NF2 Tumor Suppressor Functions through the YAP Oncoprotein to Regulate Tissue Homeostasis in Mammals
2010
Inactivation of YAP oncoprotein by the Hippo pathway is involved in cell contact inhibition and tissue growth control
2007 Standout
Malignant Gliomas in Adults
2008 Standout
Non–coding RNA genes and the modern RNA world
2001
Parental origin of chromosome 22 loss in sporadic and NF2 neuromas
1991
A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor
1993 Standout
Noncoding RNA genes
1999
Neurobehavioral profiles of children with neurofibromatosis 1 referred for learning disabilities are sex-specific
1996
A case‐control study of Alzheimer's disease
1990
DNA-PKcs has KU-dependent function in rRNA processing and haematopoiesis
2020 StandoutNatureNobel
Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours
1992 StandoutNature
Neurofibromatosis type 1: The cognitive phenotype
1994
Genetic Alterations during Colorectal-Tumor Development
1988 Standout
Molecular Genetics of Alzheimer's Disease
1993
Effect of oestrogen during menopause on risk and age at onset of Alzheimer's disease
1996 Standout
PREDISPOSING LOCUS FOR ALZHEIMER'S DISEASE ON CHROMOSOME 21
1989
microRNAs
2001 StandoutNobel
Genetic susceptibility and head injury as risk factors for Alzheimer's disease among community‐dwelling elderly persons and their first‐degree relatives
1993
A presenilin-1-dependent γ-secretase-like protease mediates release of Notch intracellular domain
1999 StandoutNature
Plasma Levels of Norepinephrine
1978
Guidelines for the Early Management of Patients With Acute Ischemic Stroke
2013 Standout
Beyond aerobic glycolysis: Transformed cells can engage in glutamine metabolism that exceeds the requirement for protein and nucleotide synthesis
2007 Standout
Software for Constructing and Verifying Pedigrees within Large Genealogies and an Application to the Old Order Amish of Lancaster County
1998
Common Pathogenetic Mechanism for Three Tumor Types in Bilateral Acoustic Neurofibromatosis
1987 Science
The neuropathology of Alzheimer's disease: A review with pathogenetic, aetiological and therapeutic considerations
1985
Molecular genetic approach to human meningioma: loss of genes on chromosome 22.
1987
Unraveling prion diseases through molecular genetics
1989 StandoutNobel
Developmental Neurobiology and the Natural History of Nerve Growth Factor
1982 StandoutNobel
Telomere length is paternally inherited and is associated with parental lifespan
2007 StandoutNobel
An Increased Percentage of Long Amyloid β Protein Secreted by Familial Amyloid β Protein Precursor (βApp 717 ) Mutants
1994 StandoutScience
Down syndrome phenotypes: the consequences of chromosomal imbalance.
1994 Standout
Increased Serum Levels of Nerve Growth Factor in von Recklinghausen's Disease
1981
A Century of Alzheimer's Disease
2006 StandoutScience
DNA Markers for Nervous System Diseases
1984 Science
The Diagnostic Evaluation and Multidisciplinary Management of Neurofibromatosis 1 and Neurofibromatosis 2
1997 Standout
Diagnostic issues in a family with late onset type 2 neurofibromatosis.
1995
Isolation of human nerve growth factor from placental tissue
1978
Physical mapping around the Alzheimer disease locus on the proximal long arm of chromosome 21.
1990
A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity.
1992
Plasma Norepinephrine as a Guide to Prognosis in Patients with Chronic Congestive Heart Failure
1984 Standout
Exploring the Etiology of Alzheimer Disease Using Molecular Genetics
1997
INCREASED LEVELS OF A NERVE-GROWTH-FACTOR CROSS-REACTING PROTEIN IN "CENTRAL" NEUROFIBROMATOSIS
1979
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
1993 Standout
Alzheimer's Disease: Genes, Proteins, and Therapy
2001 Standout
Cognitive function and social attainment in adult survivors of retinoblastoma: A report from the St. Jude Lifetime Cohort Study
2014
Evidence for Differential Roles for NKG2D Receptor Signaling in Innate Host Defense against Coronavirus-Induced Neurological and Liver Disease
2007 StandoutNobel
Candidate Gene for the Chromosome 1 Familial Alzheimer's Disease Locus
1995 StandoutScience
Global Patterns of Linkage Disequilibrium at the CD4 Locus and Modern Human Origins
1996 StandoutScienceNobel
Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease.
1996
Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma
1986 Nature
Genetic Dissection of Complex Traits
1994 StandoutScience
Type 1 Neurofibromatosis Gene: Identification of a Large Transcript Disrupted in Three NF1 Patients
1990 StandoutScience
Flanking markers bracket the neurofibromatosis type 2 (NF2) gene on chromosome 22.
1990
The Molecular Genetics of Cancer
1987 StandoutScienceNobel
Transmissible and non-transmissible neurodegenerative disease: similarities in age of onset and genetics in relation to aetiology
1986
Ribosomopathies: human disorders of ribosome dysfunction
2010
Twin concordance and sibling recurrence rates in multiple sclerosis
2003
A Population-Based Study of Multiple Sclerosis in Twins
1986 Standout
Epidemiology of clinically diagnosed Alzheimer's disease
1986
Oncogene v-src transforms and establishes embryonic rodent fibroblasts but not diploid human fibroblasts.
1988 StandoutNobel
The Emergence of Modern Neuroscience: Some Implications for Neurology and Psychiatry
2000 StandoutNobel
Linkage analysis of familial Alzheimer disease, using chromosome 21 markers.
1991
Analysis of chromosome 22 deletions in neurofibromatosis type 2-related tumors.
1992
Von Recklinghausen Neurofibromatosis
1981 Standout
Bone Marrow Failure Syndromes
1999
Genetic Linkage Evidence for a Familial Alzheimer's Disease Locus on Chromosome 14
1992 Science
Prion liposomes
1990 StandoutNobel
Epigenetic mechanisms underlying the imprinting of the mouse H19 gene.
1993 StandoutNobel
A Clinical Study of Type 2 Neurofibromatosis
1992
Genetic dissection of Alzheimer disease, a heterogeneous disorder.
1995
Works of R Eldridge being referenced
DWARFISM IN THE AMISH.
1964
DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA.
1965
Early-onset neuroma: genetic, clinical and nosologic aspects.
1974
Neurofibromatosis 2
1988
Neurofibromatosis 2 (Bilateral Acoustic or Central Neurofibromatosis), a Treatable Cause of Deafness
1991
Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities.
1996
Presymptomatic diagnosis for neurofibromatosis 2 with chromosome 22 markers
1993
A Family With Histologically Confirmed Alzheimer's Disease
1983
Nerve-Growth Factor in Disseminated Neurofibromatosis
1975
Possible Risk Factors in Multiple Sclerosis as Found in a National Twin Study
1982
Lens opacities in neurofibromatosis 2: further significant correlations.
1993
Neurofibromatosis Type 1 (Recklinghausen's Disease)
1989
Central neurofibromatosis with bilateral acoustic neuroma.
1981
Plasma norepinephrine and dopamine-beta-hydroxylase in dystonia.
1976
Dementia of the Alzheimer type
1987
The primary hereditary dystonias: genetic classification of 768 families and revised estimate of gene frequency, autosomal recessive form, and selected bibliography.
1976
Mutational analysis of patients with neurofibromatosis 2.
1994
Hereditary bilateral acoustic neuroma (central neurofibromatosis).
1971
Superior intelligence in sighted retinoblastoma patients and their families.
1972