James F. Gusella

Q: What Schools Are Affiliated With James F. Gusella

James F. Gusella is affiliated with the following schools: Yale University, Weizmann Institute of Science, University of Michigan, Massachusetts Institute of Technology, University of Toronto, Massachusetts General Hospital

James F. Gusella's AcademicInfluence.com Rankings

James F. Gusella

Biology

#4625

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#6876

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Molecular Biology

#368

World Rank

#375

Historical Rank

Genetics

#392

World Rank

#455

Historical Rank

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Biology

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James F. Gusella's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes (1993) (7826)
Association of apolipoprotein E allele ϵ4 with late‐onset familial and sporadic Alzheimer's disease (1993) (2765)
A polymorphic DNA marker genetically linked to Huntington's disease (1983) (2260)
The GPR54 Gene as a Regulator of Puberty (2003) (1527)
Amyloid beta protein gene: cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus. (1987) (1493)
Rapid induction of Alzheimer A beta amyloid formation by zinc. (1994) (1389)
Association between microdeletion and microduplication at 16p11.2 and autism. (2008) (1338)
The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene (1993) (1270)
A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor (1993) (1146)
Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease. (1993) (1107)
The GPR54 gene as a regulator of puberty. (2004) (1094)
Trinucleotide repeat length instability and age of onset in Huntington's disease (1993) (1083)
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein (1997) (994)
Protease inhibitor domain encoded by an amyloid protein precursor mRNA associated with Alzheimer's disease (1988) (956)
Molecular characterization of a second melatonin receptor expressed in human retina and brain: the Mel1b melatonin receptor. (1995) (868)
Inactivation of the mouse Huntington's disease gene homolog Hdh. (1995) (746)
Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease (1993) (732)
Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. (2004) (713)
A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex (1996) (681)
Von HippelLindau disease maps to the region of chromosome 3 associated with renal cell carcinoma (1988) (636)
CAG repeat number governs the development rate of pathology in Huntington's disease (1997) (623)
Huntington disease (2015) (580)
Isolation of a novel gene underlying batten disease, CLN3 (1995) (579)
Disruption of neurexin 1 associated with autism spectrum disorder. (2008) (573)
A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter creates an Ets binding site and augments transcription. (1998) (564)
Huntington's disease. Pathogenesis and management. (1986) (563)
Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. (2001) (557)
Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries (2012) (543)
Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion (1997) (543)
Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma (1986) (511)
Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice. (2000) (484)
Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14 (1992) (472)
Genomewide association study for susceptibility genes contributing to familial Parkinson disease (2009) (446)
Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22 (1987) (443)
Induced pluripotent stem cells from patients with Huntington's disease show CAG-repeat-expansion-associated phenotypes. (2012) (431)
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus (2011) (428)
Identification of a mouse brain cDNA that encodes a protein related to the Alzheimer disease-associated amyloid beta protein precursor. (1992) (428)
Identification of Genetic Factors that Modify Clinical Onset of Huntington’s Disease (2015) (420)
Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder (1990) (413)
Molecular genetics: Unmasking polyglutamine triggers in neurodegenerative disease (2000) (408)
Huntingtin interacts with a family of WW domain proteins. (1998) (398)
Mice heterozygous for a mutation at the Nf2 tumor suppressor locus develop a range of highly metastatic tumors. (1998) (392)
Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse. (1999) (391)
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment (2008) (386)
Homozygotes for Huntington's disease (1987) (372)
Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene (1987) (370)
Clinical Genetic Testing for Patients With Autism Spectrum Disorders (2010) (337)
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders (2008) (333)
Commitment to erythroid differentiation by friend erythroleukemia cells: a stochastic analysis (1976) (332)
KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant (2012) (327)
Oligogenic basis of isolated gonadotropin-releasing hormone deficiency (2010) (308)
Molecular genetic approach to human meningioma: loss of genes on chromosome 22. (1987) (306)
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. (2008) (301)
HD CAG repeat implicates a dominant property of huntingtin in mitochondrial energy metabolism. (2005) (296)
Specific progressive cAMP reduction implicates energy deficit in presymptomatic Huntington's disease knock-in mice. (2003) (285)
Deletions of NRXN1 (Neurexin-1) Predispose to a Wide Spectrum of Developmental Disorders (2010) (282)
Amyloid Formation by Mutant Huntingtin: Threshold, Progressivity and Recruitment of Normal Polyglutamine Proteins (1998) (281)
Structure and expression of the Huntington's disease gene: Evidence against simple inactivation due to an expanded CAG repeat (1994) (269)
Analysis of the neurofibromatosis 2 gene reveals molecular variants of meningioma. (1995) (266)
CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors (2014) (266)
The genetic defect in familial Alzheimer's disease is not tightly linked to the amyloid β-protein gene (1987) (264)
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion (2012) (263)
Rescue of a Drosophila NF1 mutant phenotype by protein kinase A. (1997) (262)
Immunohistochemical localization of the D1 dopamine receptor in rat brain reveals its axonal transport, pre- and postsynaptic localization, and prevalence in the basal ganglia, limbic system, and thalamic reticular nucleus. (1992) (262)
De novo expansion of a (CAG)n repeat in sporadic Huntington's disease (1993) (261)
Genetic modifiers of Huntington's disease (2014) (260)
NF2/Merlin Is a Novel Negative Regulator of mTOR Complex 1, and Activation of mTORC1 Is Associated with Meningioma and Schwannoma Growth (2009) (260)
Amyloid β protein gene: cDNA, mRNA distribution and genetic linkage near the Alzheimer locus (1988) (255)
Human gene for torsion dystonia located on chromosome 9q32-q34 (1989) (249)
Transglutaminase aggregates huntingtin into nonamyloidogenic polymers, and its enzymatic activity increases in Huntington's disease brain nuclei. (1999) (245)
Amyloid protein precursor messenger RNAs: differential expression in Alzheimer's disease. (1988) (245)
Common pathogenetic mechanism for three tumor types in bilateral acoustic neurofibromatosis. (1987) (243)
CAG Repeat Not Polyglutamine Length Determines Timing of Huntington’s Disease Onset (2019) (236)
Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration (2012) (230)
Downregulated MicroRNA-200a in Meningiomas Promotes Tumor Growth by Reducing E-Cadherin and Activating the Wnt/β-Catenin Signaling Pathway (2009) (229)
Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types (1994) (228)
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies (2016) (225)
Huntington's disease gene: Regional and cellular expression in brain of normal and affected individuals (1995) (222)
Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities. (1996) (220)
Temperature-sensitive mutations in the III–IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita (1992) (213)
Human Chromosome 7: DNA Sequence and Biology (2003) (208)
The Nf2 tumor suppressor gene product is essential for extraembryonic development immediately prior to gastrulation. (1997) (205)
Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9. (2016) (204)
A tiger behind many doors: multiple genetic pathways to malignant glioma. (1995) (198)
Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum. (1995) (191)
Early phenotypes that presage late-onset neurodegenerative disease allow testing of modifiers in Hdh CAG knock-in mice. (2002) (190)
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. (2011) (190)
Apolipoprotein E, survival in Alzheimer's disease patients, and the competing risks of death and Alzheimer's disease (1995) (188)
Isolation and localization of DNA segments from specific human chromosomes. (1980) (187)
An ovine transgenic Huntington's disease model. (2010) (186)
The predominantly HEAT-like motif structure of huntingtin and its association and coincident nuclear entry with dorsal, an NF-kB/Rel/dorsal family transcription factor (2002) (182)
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. (2010) (176)
Clinical diagnosis by whole-genome sequencing of a prenatal sample. (2012) (173)
Construction of a GT polymorphism map of human 9q. (1992) (173)
Developmental alterations in Huntington's disease neural cells and pharmacological rescue in cells and mice (2017) (172)
Induction of erythroid differentiation in vitro by purines and purine analogues (1976) (172)
Reduced penetrance of the Huntington's disease mutation. (1997) (170)
Heterogeneous Topographic and Cellular Distribution of Huntingtin Expression in the Normal Human Neostriatum (1997) (169)
Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis. (1997) (168)
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. (2005) (167)
The Huntington's disease candidate region exhibits many different haplotypes (1992) (165)
Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease (2003) (161)
Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research. (2011) (161)
Huntingtin facilitates polycomb repressive complex 2 (2009) (160)
Quantitative neuropathological changes in presymptomatic Huntington's disease (2001) (159)
A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study. (2003) (155)
Neurofibromatosis type 1 gene mutations in neuroblastoma (1993) (154)
Analysis of the neurofibromatosis 2 gene in human ependymomas and astrocytomas. (1994) (153)
Neuropathology and Molecular Genetics of Neurofibromatosis 2 and Related Tumors (1995) (153)
Reversal of a full-length mutant huntingtin neuronal cell phenotype by chemical inhibitors of polyglutamine-mediated aggregation (2005) (147)
Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel (1992) (146)
An anti-Ras function of neurofibromatosis type 2 gene product (NF2/Merlin). (1994) (146)
Rescue of a human mRNA splicing defect by the plant cytokinin kinetin. (2003) (143)
Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis (1993) (143)
Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32–34 (1990) (138)
RNA Sequence Analysis of Human Huntington Disease Brain Reveals an Extensive Increase in Inflammatory and Developmental Gene Expression (2015) (137)
Accumulation of wild type p53 protein in human astrocytomas. (1993) (137)
Precise localization of human beta-globin gene complex on chromosome 11. (1979) (136)
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. (2013) (136)
Huntington's disease: seeing the pathogenic process through a genetic lens. (2006) (134)
The merlin tumor suppressor localizes preferentially in membrane ruffles. (1996) (134)
Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study. (2006) (133)
Molecular and prospective phenotypic characterization of a pedigree with familial Alzheimer's disease and a missense mutation in codon 717 of the β‐amyloid precursor protein gene (1992) (133)
Frequency and distribution of NF2 mutations in schwannomas (1996) (132)
Factors associated with HD CAG repeat instability in Huntington disease (2007) (132)
Protease inhibitor domain encoded by an amyloid protein precursor mRNA associated with Alzheimerʼs disease (1988) (130)
Physical mapping of a translocation breakpoint in neurofibromatosis. (1989) (129)
Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia. (2003) (127)
Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews. (1992) (126)
Disruption of ROBO2 Is Associated with Urinary Tract Anomalies and Confers Risk of Vesicoureteral Reflux (2007) (125)
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome (2017) (123)
Localization of the huntington's disease gene to a small segment of chromosome 4 flanked by D4S10 and the telomere (1987) (122)
Prediction of cognition in Parkinson's disease with a clinical–genetic score: a longitudinal analysis of nine cohorts (2017) (122)
Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf–Hirschhorn syndrome (1985) (121)
Universal absence of merlin, but not other ERM family members, in schwannomas. (1997) (120)
Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway. (2014) (120)
The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease. (2016) (119)
DNA polymorphism and human disease. (1986) (118)
DNA markers for nervous system diseases. (1984) (118)
Huntington's disease: the case for genetic modifiers (2009) (117)
DNA sequence and regional assignment of the human follicle-stimulating hormone beta-subunit gene to the short arm of human chromosome 11. (1987) (116)
Genomewide association study for onset age in Parkinson disease (2009) (116)
miR-10b-5p expression in Huntington’s disease brain relates to age of onset and the extent of striatal involvement (2015) (114)
Frequent loss of chromosome 14 in atypical and malignant meningioma: identification of a putative `tumor progression' locus (1997) (114)
The Relationship Between CAG Repeat Length and Age of Onset Differs for Huntington's Disease Patients with Juvenile Onset or Adult Onset (2007) (113)
Genetic linkage map of human chromosome 21. (1988) (113)
The gene for achondroplasia maps to the telomeric region of chromosome 4p (1994) (112)
Monoamine oxidase deficiency in males with an X chromosome deletion (1989) (111)
Merlin: the neurofibromatosis 2 tumor suppressor. (1999) (109)
Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism. (1999) (108)
Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families. (2014) (108)
Characterization and Expression of the Human A2a Adenosine Receptor Gene (1996) (108)
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders. (2013) (107)
Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. (2008) (107)
Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4. (1991) (106)
Molecular Genetics of Pediatric Brain Stem Gliomas. Application of PCR Techniques to Small and Archival Brain Tumor Specimens (1993) (106)
A gene encoding a fibroblast growth factor receptor isolated from the Huntington disease gene region of human chromosome 4. (1991) (105)
Inhibition of p25/Cdk5 Attenuates Tauopathy in Mouse and iPSC Models of Frontotemporal Dementia (2017) (104)
Huntingtin's WW domain partners in Huntington's disease post-mortem brain fulfill genetic criteria for direct involvement in Huntington's disease pathogenesis. (2000) (103)
Normal and Expanded Huntington’s Disease Gene Alleles Produce Distinguishable Proteins Due to Translation Across the CAG Repeat (1995) (102)
Huntington's disease: translating a CAG repeat into a pathogenic mechanism (1996) (102)
The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study (2008) (102)
Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a South Tyrolean population isolate. (2006) (101)
MTS1/CDKN2 gene mutations are rare in primary human astrocytomas with allelic loss of chromosome 9p. (1994) (100)
A novel approach to investigate tissue-specific trinucleotide repeat instability (2010) (99)
Expanding the phenotype and genotype of female GnRH deficiency. (2011) (99)
A locus for cerebral cavernous malformations maps to chromosome 7q in two families. (1995) (99)
NFIA Haploinsufficiency Is Associated with a CNS Malformation Syndrome and Urinary Tract Defects (2007) (98)
An evolutionary recent neuroepithelial cell adhesion function of huntingtin implicates ADAM10-Ncadherin (2012) (97)
A region of deletion on chromosome 22q13 is common to human breast and colorectal cancers. (2000) (95)
A cosmid contig and high resolution restriction map of the 2 megabase region containing the Huntington's disease gene (1993) (95)
Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux. (2007) (94)
MicroRNAs Located in the Hox Gene Clusters Are Implicated in Huntington's Disease Pathogenesis (2014) (94)
DNA methylation affecting the expression of murine leukemia proviruses (1982) (92)
PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD study. (2002) (91)
Regulation of mTOR Complex 2 Signaling in Neurofibromatosis 2–Deficient Target Cell Types (2012) (90)
Use of cyclosporin a in establishing epstein-barr virus-transformed human lymphoblastoid cell lines (1984) (90)
Mapping of the gene for the Mel1a-melatonin receptor to human chromosome 4 (MTNR1A) and mouse chromosome 8 (Mtnr1a). (1995) (89)
Flanking markers bracket the neurofibromatosis type 2 (NF2) gene on chromosome 22. (1990) (89)
Recombination events suggest potential sites for the Huntington's disease gene (1989) (88)
No Genetic Effect of α1-Antichymotrypsin in Alzheimer Disease (1996) (88)
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion (2012) (87)
Differential Expression of Normal and Mutant Huntington's Disease Gene Alleles (1996) (86)
Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes. (1999) (86)
MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus (2015) (86)
Refined localization of the cerebral cavernous malformation gene (CCM1) to a 4-cM interval of chromosome 7q contained in a well-defined YAC contig. (1995) (86)
Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy. (1996) (85)
Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus. (1985) (85)
Genetic linkage studies in autosomal dominant parkinsonism: Evaluation of seven candidate genes (1994) (84)
Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16 (2004) (84)
High resolution localization of recombination hot spots using sperm typing (1994) (84)
Huntington's disease CAG trinucleotide repeats in pathologically confirmed post-mortem brains (1994) (84)
Genome-wide significance for a modifier of age at neurological onset in Huntington's Disease at 6q23-24: the HD MAPS study (2006) (83)
Isolation of polymorphic DNA segments from human chromosome 21. (1985) (83)
A genetic linkage map of the long arm of human chromosome 22. (1989) (82)
The putative glioma tumor suppressor gene on chromosome 19q maps between APOC2 and HRC. (1994) (82)
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features (2012) (81)
Huntingtin: a single bait hooks many species (1998) (79)
Unbiased Gene Expression Analysis Implicates the huntingtin Polyglutamine Tract in Extra-mitochondrial Energy Metabolism (2007) (78)
Copy Number Variation in Familial Parkinson Disease (2011) (78)
Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity. (1991) (78)
Regional localization of DNA sequences on chromosome 21 using somatic cell hybrids. (1986) (76)
Mouse Huntington's disease gene homolog (Hdh) (1994) (76)
Complex patterns of linkage disequilibrium in the Huntington disease region. (1991) (75)
Linkage of eye movement dysfunction to chromosome 6p in schizophrenia: Additional evidence (2004) (75)
Trinucleotide instability: a repeating theme in human inherited disorders. (1996) (73)
Role of common and rare APP DNA sequence variants in Alzheimer disease (2012) (73)
Huntington's disease. (1995) (73)
Mapping of the gene encoding the beta-amyloid precursor protein and its relationship to the Down syndrome region of chromosome 21. (1988) (72)
Mouse neurofibromatosis type 1 cDNA sequence reveals high degree of conservation of both coding and non-coding mRNA segments. (1993) (72)
A modifier of Huntington's disease onset at the MLH1 locus (2017) (71)
Comparative mapping of DNA markers from the familial Alzheimer disease and Down syndrome regions of human chromosome 21 to mouse chromosomes 16 and 17. (1988) (71)
Defined physical limits of the Huntington disease gene candidate region. (1991) (71)
Longitudinal neuropsychological and genetic linkage analysis of persons at risk for Huntington's disease. (1995) (71)
The cloning and expression of a sodium channel β1-subunit cDNA from human brain (1993) (70)
Familial Alzheimer's disease: Progress and problems (1989) (70)
Genetic linkage analysis of familial amyotrophic lateral sclerosis using human chromosome 21 microsatellite DNA markers. (1994) (70)
Molecular genetic approaches to Alzheimer's disease (1989) (69)
Magicin, a novel cytoskeletal protein associates with the NF2 tumor suppressor merlin and Grb2 (2004) (69)
Autism Spectrum Disorder Genetics: Diverse Genes with Diverse Clinical Outcomes (2014) (69)
Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibrium. (1997) (69)
Huntingtin Immunoreactivity in the Rat Neostriatum: Differential Accumulation in Projection and Interneurons (1997) (68)
Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance. (2007) (68)
HD CAG-correlated gene expression changes support a simple dominant gain of function. (2011) (68)
Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease. (1994) (67)
Identification of the first non‐Jewish mutation in familial Dysautonomia (2003) (66)
Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31. (1999) (65)
KCTD13 is a major driver of mirrored neuroanatomical phenotypes associated with the 16p11.2 CNV (2012) (64)
Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities (2014) (64)
Neurofibromatosis 2: loss of merlin's protective spell. (1996) (64)
Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1 (2005) (64)
Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities. (2012) (64)
Mutant Huntingtin Forms in Vivo Complexes with Distinct Context-Dependent Conformations of the Polyglutamine Segment (1999) (63)
A cross-disorder dosage sensitivity map of the human genome (2021) (63)
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes (2016) (63)
Deficiency of Huntingtin Has Pleiotropic Effects in the Social Amoeba Dictyostelium discoideum (2011) (63)
Inactivation patterns of NF2 and DAL-1/4.1B (EPB41L3) in sporadic meningioma. (2005) (63)
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes (2016) (63)
Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency (2014) (63)
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region. (2012) (62)
Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy. (1988) (61)
A yeast artificial chromosome telomere clone spanning a possible location of the Huntington disease gene. (1990) (61)
Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR (2016) (61)
Genetic analysis of the dominant white-spotting (W) region on mouse chromosome 5: identification of cloned DNA markers near W. (1988) (59)
Brain urea increase is an early Huntington’s disease pathogenic event observed in a prodromal transgenic sheep model and HD cases (2017) (59)
Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia (2007) (59)
Huntington's disease: CAG genetics expands neurobiology (1995) (59)
Identification of a presymptomatic molecular phenotype in Hdh CAG knock-in mice. (2002) (58)
The Genetic Defect Causing Huntington’s Disease: Repeated in Other Contexts? (1997) (58)
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. (2012) (57)
The organization of a nuclear DNA sequence from a higher plant: molecular cloning and characterization of soybean ribosomal DNA. (1979) (57)
DNA diagnosis of neurofibromatosis 2. Altered coding sequence of the merlin tumor suppressor in an extended pedigree. (1993) (57)
The NF2 Tumor Suppressor Merlin and the ERM Proteins Interact with N-WASP and Regulate Its Actin Polymerization Function* (2005) (56)
Regional assignment of the erythropoietin gene to human chromosome region 7pter----q22. (1986) (56)
A somatic cell hybrid panel for localizing DNA segments near the Huntington's disease gene. (1987) (56)
Characterization of a yeast artificial chromosome contig spanning the Huntington's disease gene candidate region (1992) (56)
Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate (2013) (55)
Molecular genetics of Alzheimer disease amyloid. (1991) (55)
Huntington's disease. (1995) (54)
Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis. (2016) (54)
Clinical-Genetic Associations in the Prospective Huntington at Risk Observational Study (PHAROS): Implications for Clinical Trials. (2016) (54)
BMC Medicine (2006) (53)
Exon scanning for mutations of the nf2 gene in pediatric ependymomas, rhabdoid tumors and meningiomas (1995) (53)
The cell adhesion gene PVRL3 is associated with congenital ocular defects (2012) (53)
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology. (2015) (52)
The genomic structure of the human skeletal muscle sodium channel gene. (1992) (51)
The gene (DYT1) for early-onset torsion dystonia encodes a novel protein related to the Clp protease/heat shock family. (1998) (51)
A DNA polymorphism for Huntington's disease marks the future. (1985) (51)
Mapping of a target region of allelic loss to a 0.5-cM interval on chromosome 22q13 in human colorectal cancer. (1999) (51)
Prevalence of incompletely penetrant Huntington's disease alleles among individuals with major depressive disorder. (2010) (50)
Chromosome 19q Deletions in Human Gliomas Overlap Telomeric to D19S219 and May Target a 425 kb Region Centromeric to D19S112 (1995) (50)
Expression of SMARCB1 (INI1) mutations in familial schwannomatosis. (2012) (50)
Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs. (2013) (50)
Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27–35 CAG) (2009) (50)
Assessment of cortical and striatal involvement in 523 Huntington disease brains (2012) (49)
Htt CAG repeat expansion confers pleiotropic gains of mutant huntingtin function in chromatin regulation. (2015) (48)
Expressed genes, Alu repeats and polymorphisms in cosmids sequenced from chromosome 4p16.3 (1992) (48)
NF2 gene analysis distinguishes hemangiopericytoma from meningioma. (1995) (48)
CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids. (2016) (48)
The murine NF2 homologue encodes a highly conserved merlin protein with alternative forms. (1994) (48)
The importance of genetic mosaicism in human disease. (1994) (48)
A genetic linkage map of chromosome 17. (1990) (47)
Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders. (2014) (47)
Modeling NF2 with human arachnoidal and meningioma cell culture systems: NF2 silencing reflects the benign character of tumor growth (2008) (47)
Hemin does not cause commitment of murine erythroleukemia (MEL) cells to terminal differentiation (1980) (47)
Investigation of gyrate atrophy using a cDNA clone for human ornithine aminotransferase. (1986) (46)
Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation. (2015) (46)
Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature. (2014) (45)
Genetic fine-structure mapping in human chromosome 11 by use of repetitive DNA sequences. (1982) (45)
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder (2013) (45)
A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect. (2007) (45)
Monozygotic twins discordant for neurofibromatosis 1 (2010) (44)
Further molecular characterisation of the OVT73 transgenic sheep model of Huntington's disease identifies cortical aggregates. (2013) (44)
A high-throughput kinome screen reveals serum/glucocorticoid-regulated kinase 1 as a therapeutic target for NF2-deficient meningiomas (2015) (43)
Metabolic disruption identified in the Huntington’s disease transgenic sheep model (2016) (43)
Hypokalemic periodic paralysis mutations: Confirmation of mutation and analysis of founder effect (1996) (42)
Complete human NF1 cDNA sequence: two alternatively spliced mRNAs and absence of expression in a neuroblastoma line. (1992) (42)
Mapping of cosmid clones in Huntington's disease region of chromosome 4 (1991) (42)
Replication of association between ELAVL4 and Parkinson disease: the GenePD study (2008) (41)
Inhibition by dexamethasone of commitment to erythroid differentiation in murine erythroleukemia cells. (1979) (41)
Intra‐family phenotypic heterogeneity of 16p11.2 deletion carriers in a three‐generation Chinese family (2011) (41)
Hemin does not cause commitment of murine erythroleukemia (MEL) cells to terminal differentiation. (1980) (41)
Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice. (2007) (40)
Large-scale phenome analysis defines a behavioral signature for Huntington's disease genotype in mice (2016) (40)
Genomic profiling distinguishes familial multiple and sporadic multiple meningiomas (2009) (40)
Association of a polymorphism near CREB1 with differential aversion processing in the insula of healthy participants. (2008) (40)
Meclizine is neuroprotective in models of Huntington's disease. (2011) (40)
Clonal analysis of a case of multiple meningiomas using multiple molecular genetic approaches: pathology case report. (1999) (40)
Mapping of a human A2a adenosine receptor (ADORA2) to chromosome 22. (1994) (40)
The CEPH consortium linkage map of human chromosome 16. (1994) (38)
The parental origin of new mutations in neurofibromatosis 2 (2000) (38)
Cloning of the α–adducin gene from the Huntington's disease candidate region of chromosome 4 by exon amplification (1992) (37)
Population-specific genetic modification of Huntington's disease in Venezuela (2018) (37)
Huntington disease-linked restriction fragment length polymorphism localized within band p16.1 of chromosome 4 by in situ hybridization. (1986) (36)
Candidate DNA replication initiation regions at human trinucleotide repeat disease loci. (2003) (36)
Neurofibromatosis 2 gene in human colorectal cancer. (1995) (36)
Molecular Genetics of Neurofibromatosis 2 and Related Tumors (Acoustic Neuroma and Meningioma) a (1991) (36)
The telomeric 60 kb of chromosome arm 4p is homologous to telomeric regions on 13p, 15p, 21p, and 22p. (1992) (35)
Identification and characterization of two novel tetratricopeptide repeat-containing genes. (1996) (34)
The direct screening of cosmid libraries with YAC clones. (1991) (34)
Cloning, mapping, and expression of two novel actin genes, actin-like-7A (ACTL7A) and actin-like-7B (ACTL7B), from the familial dysautonomia candidate region on 9q31. (1999) (33)
Huntington’s Disease (2007) (33)
Implication of LRRC4C and DPP6 in neurodevelopmental disorders (2017) (33)
The molecular biology of human glial tumors (1988) (32)
Loss of the NF2 gene and merlin occur by the tumorlet stage of schwannoma development in neurofibromatosis 2. (1998) (32)
Chromosome jumping from D4S10 (G8) toward the Huntington disease gene. (1988) (32)
Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset (2012) (32)
The cloning and expression of a sodium channel beta 1-subunit cDNA from human brain. (1993) (32)
Linkage disequilibrium between the juvenile neuronal ceroid lipofuscinosis gene and marker loci on chromosome 16p12.1 (1994) (32)
Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects. (2020) (31)
Brain-derived neurotrophic factor does not influence age at neurologic onset of Huntington’s disease (2006) (30)
Huntington disease: Estimation of heterozygote status using linked genetic markers (1984) (30)
Cloning of a highly conserved human protein serine-threonine phosphatase gene from the glioma candidate region on chromosome 19q13.3. (1995) (30)
dtorsin, the Drosophila Ortholog of the Early-Onset Dystonia TOR1A (DYT1), Plays a Novel Role in Dopamine Metabolism (2011) (30)
Molecular genetics of Huntington's disease. (1993) (30)
Identification of human chromosome 9 specific genes using exon amplification. (1993) (30)
The ETS genes on chromosome 21 are distal to the breakpoint of the acute myelogenous leukemia translocation (8;21). (1988) (29)
High resolution time‐course mapping of early transcriptomic, molecular and cellular phenotypes in Huntington's disease CAG knock‐in mice across multiple genetic backgrounds (2017) (29)
Evidence for Subarachnoid Spread in the Development of Multiple Meningiomas (1995) (29)
Differential effects of the Huntington's disease CAG mutation in striatum and cerebellum are quantitative not qualitative. (2011) (29)
An ancient founder mutation in PROKR2 impairs human reproduction. (2012) (29)
No post-genetics era in human disease research (2002) (29)
Bioenergetic deficits in Huntington’s disease iPSC-derived neural cells and rescue with glycolytic metabolites (2019) (29)
Detection of Copy Number Variants Reveals Association of Cilia Genes with Neural Tube Defects (2013) (28)
A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene (2016) (28)
CEPH consortium Map of chromosome 9. (1994) (28)
Genetic Modification of Huntington Disease Acts Early in the Prediagnosis Phase. (2018) (28)
Recombinant DNA techniques in the diagnosis of inherited disorders. (1986) (28)
Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington’s disease knock-in mice is blocked by Mlh1 knock-out (2020) (27)
The Genetic Modifiers of Motor OnsetAge (GeM MOA) Website: Genome-wide Association Analysis for Genetic Modifiers of Huntington's Disease. (2015) (27)
A genetic linkage map of human chromosome 9q. (1992) (27)
Molecular and cytogenetic characterization of a de novo t(5p;21q) in a patient previously diagnosed as monosomy 21. (1988) (27)
A dinucleotide repeat polymorphism at the D4S127 locus. (1992) (26)
An expression-independent catalog of genes from human chromosome 22. (1995) (26)
Different gene loci for hyperkalemic and hypokalemic periodic paralysis (1991) (26)
Huntington’s Disease Pathogenesis: Two Sequential Components (2021) (26)
Location cloning strategy for characterizing genetic defects in Huntington's disease and Alzheimer's disease (1989) (26)
Cloning, characterization, and genomic structure of the mouse Ikbkap gene. (2001) (26)
Actin capping protein CAPZB regulates cell morphology, differentiation, and neural crest migration in craniofacial morphogenesis†. (2016) (26)
New DNA markers in the Huntington's disease gene candidate region (1991) (26)
Torsion dystonia genes in two populations confined to a small region on chromosome 9q32-34. (1991) (26)
Timing and Impact of Psychiatric, Cognitive, and Motor Abnormalities in Huntington Disease (2021) (25)
Mediator Subunit MED28 (Magicin) Is a Repressor of Smooth Muscle Cell Differentiation* (2007) (25)
Allelic expression of the NF2 gene in neurofibromatosis 2 and schwannomatosis (1999) (25)
Modification of the Na+ current conducted by the rat skeletal muscle α subunit by coexpression with a human brain β subunit (1993) (25)
Huntington's disease and repeating trinucleotides. (1994) (24)
Genetic analysis of the GRIK2 modifier effect in Huntington's disease (2006) (24)
De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth (2020) (24)
16p11.2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro (2021) (24)
Rare Deleterious PARD3 Variants in the aPKC‐Binding Region are Implicated in the Pathogenesis of Human Cranial Neural Tube Defects Via Disrupting Apical Tight Junction Formation (2017) (24)
Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity. (2012) (24)
Molecular pathology of gyrate atrophy of the choroid and retina due to ornithine aminotransferase deficiency. (1991) (23)
Mutated Huntingtin Causes Testicular Pathology in Transgenic Minipig Boars (2016) (23)
IT15 gene expression in fetal human brain (1994) (23)
Expression of PTPH1, a rat protein tyrosine phosphatase, is restricted to the derivatives of a specific diencephalic segment. (1995) (23)
Hunting for Huntington's disease. (1993) (23)
Dominant effects of the Huntington's disease HTT CAG repeat length are captured in gene-expression data sets by a continuous analysis mathematical modeling strategy. (2013) (23)
Abstracts of workshop presentations (Part 13 of 13) (1985) (23)
Sequence-Level Analysis of the Major European Huntington Disease Haplotype. (2015) (22)
Molecular genetics of human chromosome 21. (1986) (22)
The ornithine aminotransferase (OAT) locus: analysis of RFLPs in gyrate atrophy. (1988) (22)
Huntington disease-linked locusD4S111 exposed as the α-l-iduronidase gene (1991) (22)
The NF2 gene and merlin protein in human osteosarcomas (1998) (22)
Dissociation of hemoglobin accumulation and commitment during murine erythroleukemia cell differentiation by treatment with imidazole (1982) (22)
A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal (2016) (22)
Inflammatory bowel disease: is it in the genes? (1998) (21)
Analysis of the c‐FOS gene on chromosome 14 and the promoter of the amyloid precursor protein gene in familial Alzheimer's disease (1993) (20)
A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene (2016) (20)
A balanced translocation in Kallmann Syndrome implicates a long noncoding RNA, RMST, as a GnRH neuronal regulator. (2020) (20)
Localization of juvenile, but not late-infantile, neuronal ceroid lipofuscinosis on chromosome 16. (1993) (20)
Modification of the Na+ current conducted by the rat skeletal muscle alpha subunit by coexpression with a human brain beta subunit. (1993) (20)
Genetic Risk Underlying Psychiatric and Cognitive Symptoms in Huntington’s Disease (2019) (20)
Abstracts of workshop presentations (Part 2 of 16) (1987) (20)
Pain correlates with germline mutation in schwannomatosis (2018) (20)
TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease. (2012) (20)
Loss of chromosome 22 alleles in human sporadic spinal schwannomas (1991) (20)
Control of proliferation and differentiation in cells transformed by Friend virus. (1980) (20)
Huntington disease in Finland: linkage disequilibrium of chromosome 4 RFLP haplotypes and exclusion of a tight linkage between the disease and D4S43 locus. (1990) (20)
A recombination event that redefines the Huntington disease region. (1992) (20)
Magicin associates with the Src-family kinases and is phosphorylated upon CD3 stimulation. (2006) (19)
Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients (2012) (19)
Candidate loci for Zimmermann–Laband syndrome at 3p14.3 (2007) (19)
Opposing Tumor-Promoting and -Suppressive Functions of Rictor/mTORC2 Signaling in Adult Glioma and Pediatric SHH Medulloblastoma (2018) (19)
Isolation, characterization, and mapping of gene encoding dihydrolipoyl succinyltransferase (E2k) of humanα-ketoglutarate dehydrogenase complex (1994) (19)
Abstracts of workshop presentations (Part 6 of 16) (1987) (19)
WNT/β-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene TCF4 (2017) (18)
Haplotype-based stratification of Huntington's disease (2017) (18)
No genetic effect of alpha1-antichymotrypsin in Alzheimer disease. (1996) (18)
A rare exonic NRXN3 deletion segregating with neurodevelopmental and neuropsychiatric conditions in a three‐generation Chinese family (2018) (18)
Generation and characterization of irradiation hybrids of human chromosome 4 (1991) (18)
EPH receptor signaling as a novel therapeutic target in NF2-deficient meningioma (2018) (18)
EPH receptor signaling as a novel therapeutic target in NF2-deficient meningioma (2018) (18)
Characterization of a duplication in the terminal band of 4p by molecular cytogenetics. (1993) (18)
Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder (2013) (17)
Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency. (2015) (17)
Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental abnormalities (2007) (17)
Radiation hybrid map spanning the Huntington disease gene region of chromosome 4. (1992) (17)
Familial dysautonomia. (2002) (17)
Age- and gender-dependent obesity in individuals with 16p11.2 deletion. (2011) (17)
Genetic Variation in the 3′ Untranslated Region of the Neurofibromatosis 1 Gene: Application to Unequal Allelic Expression (1998) (17)
The isolation of cDNAs within the Huntington disease region by hybridisation of yeast artificial chromosomes to a cDNA library. (1993) (17)
MATR 3 disruption in human and mouse associated with bicuspid aortic valve , aortic coarctation and patent ductus arteriosus (2015) (17)
Molecular genetics of Huntington's disease. (1986) (17)
Traditional and systems biology based drug discovery for the rare tumor syndrome neurofibromatosis type 2 (2018) (17)
Absence of previously reported variants in the SCNA (G88C and G209A), NR4A2 (T291D and T245G) and the DJ‐1 (T497C) genes in familial Parkinson's disease from the GenePD study (2005) (16)
Dinucleotide repeat polymorphism for the hexabrachion gene (HXB) on chromosome 9q32-34. (1992) (16)
The Drosophila Huntington's disease gene ortholog dhtt influences chromatin regulation during development. (2015) (16)
Genetic Linkage of the Huntington’s Disease Gene to a DNA Marker (1984) (16)
A functional assay for heterozygous mutations in the GTPase activating protein related domain of the neurofibromatosis type 1 gene. (1995) (16)
Phenotypic variation in 2 Huntington's disease families with linkage to chromosome 4 (1989) (15)
Progress toward the Isolation and Characterization of the Genes Causing Neurofibromatosis (1990) (15)
Recombinant DNA approach to neurogenetic disorders (1982) (15)
Mapping of the DNA locus D4S10 and the linked Huntington's disease gene to 4p16----p15. (1986) (15)
Mosaic copy number variation in schizophrenia (2013) (15)
Lack of evidence for association of meiotic nondisjunction with particular DNA haplotypes on chromosome 21. (1988) (15)
Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann–Laband syndrome (2007) (14)
Screening for Familial APP Mutations in Sporadic Cerebral Amyloid Angiopathy (2010) (14)
Modified single-stranded oligonucleotides inhibit aggregate formation and toxicity induced by expanded polyglutamine (2007) (14)
A point mutation associated with a severe phenotype of neurofibromatosis 2 (1996) (13)
Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy. (1990) (13)
Physical and genetic localization of quinonoid dihydropteridine reductase gene (QDPR) on short arm of chromosome 4 (1987) (13)
Genetic criteria for Huntington's disease pathogenesis (2007) (13)
Exome sequencing of individuals with Huntington’s disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset (2022) (13)
Sequence-tagged sites (STSs) spanning 4p16.3 and the Huntington disease candidate region. (1992) (13)
CNV profiles of Chinese pediatric patients with developmental disorders (2021) (13)
Changing Models of Biomedical Research (2009) (13)
Targeted inactivation of the mouse Huntington's disease gene homolog Hdh. (1996) (13)
Huntington's disease. (1982) (13)
Abstracts of workshop presentations (Part 1 of 13) (1985) (13)
Exclusion mapping of the hereditary dentatorubropallidoluysian atrophy gene from the Huntington's disease locus. (1990) (12)
Commitment of murine erythroleukemia (MEL) cells to terminal differentiation is associated with coordinated expression of globin and ribosomal genes. (1982) (12)
Novel allele-specific quantification methods reveal no effects of adult onset CAG repeats on HTT mRNA and protein levels (2017) (12)
Prenatal diagnosis of familial dysautonomia by analysis of linked CA-repeat polymorphisms on chromosome 9q31-q33. (1995) (12)
Neurofibromatosis type 2 (2006) (12)
Genetic Linkage Analysis of Neurofibromatosis with DNA Markers a (1986) (12)
Mutations causing Lopes-Maciel-Rodan Syndrome are huntingtin hypomorphs. (2021) (12)
Localization of the ornithine aminotransferase gene and related sequences on two human chromosomes (1987) (12)
Molecular detection of a 4p deletion using PCR-based polymorphisms: a technique for the rapid detection of the Wolf-Hirschhorn syndrome. (1992) (12)
Ring Chromosome 21: Characterization of DNA Sequences at Sites of Breakage and Reunion (1985) (12)
Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay (2016) (12)
Molecular hybridization under conditions of high stringency permits cloned DNA segments containing reiterated DNA sequences to be assigned to specific chromosomal locations. (1984) (12)
Fine-Mapping of Restless Legs Locus 4 (RLS4) Identifies a Haplotype over the SPATS2L and KCTD18 Genes (2013) (11)
Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington’s disease motor onset (2013) (11)
Progress towards the isolation and characterization of the genes causing neurofibromatosis. (1990) (11)
Regional assignment of six polymorphic DNA sequences on chromosome 21 by in situ hybridization to normal and rearranged chromosomes. (1988) (11)
Molecular genetics of an autosomal dominant form of torsion dystonia. (1988) (11)
Relative argininosuccinate synthetase mRNA levels and gene copy number in canavanine-resistant lymphoblasts. (1984) (11)
Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons (2020) (11)
Chromosomal localization of the mouse homolog of the Huntington's disease linked G8 (D4S10) marker. (1987) (11)
No Association between α1‐Antichymotrypsin and Familial Alzheimer's Diseases a (1996) (11)
The beta amyloid protein precursor: mRNAs, membrane-associated forms, and soluble derivatives. (1989) (11)
Sequence of the voltage-gated sodium channel beta1-subunit in wild-type and in quivering mice. (1996) (10)
Abstracts of workshop presentations (Part 9 of 13) (1985) (10)
Mediator Subunit Med28 Is Essential for Mouse Peri-Implantation Development and Pluripotency (2015) (10)
Brigatinib causes tumor shrinkage in both NF2-deficient meningioma and schwannoma through inhibition of multiple tyrosine kinases but not ALK (2021) (10)
Abstracts of workshop presentations (Part 12 of 16) (1987) (10)
A genetic linkage map of the chromosome 4 short arm (1993) (10)
Hypomorphic mutation of the mouse Huntington’s disease gene orthologue (2018) (10)
A linkage map of three anonymous human DNA fragments and SOD‐1 on chromosome 21. (1985) (9)
A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome (2017) (9)
Huntington’s Disease (HD) (1989) (9)
Huntington’s disease onset is determined by length of uninterrupted CAG, not encoded polyglutamine, and is modified by DNA maintenance mechanisms (2019) (9)
Dinucleotide repeat polymorphisms (D21S223 and D21S224) at 21q22.1. (1992) (9)
Abstracts of workshop presentations (Part 12 of 13) (1985) (9)
Heritability of Risk for Sudden Cardiac Arrest in ESRD. (2015) (9)
Potential molecular consequences of transgene integration: The R6/2 mouse example (2017) (9)
Equal parental origin of chromosome 22 losses in human sporadic meningioma: no evidence for genomic imprinting. (1990) (9)
Genomewide linkage study of modifiers of LRRK2‐related Parkinson's disease (2011) (8)
RFLPS at the D21S19 locus of human chromosome 21. (1985) (8)
Molecular genetic approaches to neural degenerative disorders (1982) (8)
Partial linkage map of chromosome 13q in the region of the Wilson disease and retinoblastoma genes (1988) (8)
Linkage analysis in juvenile neuronal ceroid lipofuscinosis. (1992) (8)
Studies of a DNA marker (G8) genetically linked to Huntington disease in British families (1986) (8)
Genetic modifiers of Huntington's disease differentially influence motor and cognitive domains (2022) (8)
Genetic Linkage Map for Chromosome 21 a (1985) (8)
Abstracts of workshop presentations (Part 15 of 16) (1987) (8)
Sequence-tagged sites (STSs) for a set of mapped markers on chromosome 21. (1992) (8)
Disruption of ROBO2 is associated with congenital anomalies of kidney and urinary tract and confers risk of vesicoureteric reflux. (2007) (7)
Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin (2021) (7)
A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings (2017) (7)
Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder (2022) (7)
Characterization of an unusual and complex chromosome 21 rearrangement using somatic cell genetics and cloned DNA probes. (1989) (7)
Linkage, but not gene order, of homologous loci, including α-L-iduronidase (Idua), is conserved in the Huntington disease region of the mouse and human genomes (2004) (7)
Models for inherited susceptibility to cancer in the nervous system: a molecular-genetic approach to neurofibromatosis. (1987) (7)
Abstracts of workshop presentations (Part 10 of 16) (1987) (7)
Elastic DNA elements--boon or blight? (1993) (7)
Peripherin gene is linked to keratin 18 gene on human chromosome 12 (1995) (7)
Cloning, mapping, and expression of a novel brain-specific transcript in the Familial Dysautonomia candidate region on Chromosome 9q31 (2000) (7)
Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: The GenePD study (2008) (7)
Signaling and Regulation Regulation of mTOR Complex 2 Signaling in Neuro fi bromatosis 2 – De fi cient Target Cell Types (2012) (6)
Full sequence of mutant huntingtin 3′-untranslated region and modulation of its gene regulatory activity by endogenous microRNA (2019) (6)
Huntington's disease: Nearly four decades of human molecular genetics. (2021) (6)
Patient and Physician Attitudes Regarding Clinical Trials in Neurofibromatosis 1 (2008) (6)
Precise localization of human / 3-globin gene complex on chromosome 11 * ( DNA hybridization / hemoglobin ft chain / hemoglobin 6 chain / regional gene mapping ) (6)
Dinucleotide repeat polymorphism in the Huntington's disease region at the D4S182 locus. (1992) (6)
Tissue and cell-type specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models (2022) (6)
An 86-bp VNTR within IDUA is the basis of the D4S111 polymorphic locus. (1992) (6)
A set of STS assays targeting the chromosome 22 physical framework markers. (1993) (6)
Distribution of trinucleotide repeat sequences across a 2 Mbp region containing the Huntington's disease gene. (1994) (6)
Huntingtin Supplies a csaA-Independent Function Essential for EDTA-Resistant Homotypic Cell Adhesion in Dictyostelium discoideum. (2014) (6)
Isolation of polymorphic DNA fragments from human chromosome 4. (1987) (6)
Analysis of the beta-amyloid protein precursor of Alzheimer's disease: mRNAs and protein products. (1990) (6)
Linkage Map on Chromosome 21q and the Association of a DNA Haplotype with a Propensity to Nondisjunction and Trisomy 21 a (1985) (6)
Correction: RNA Sequence Analysis of Human Huntington Disease Brain Reveals an Extensive Increase in Inflammatory and Developmental Gene Expression (2016) (5)
Assay by polymerase chain reaction (PCR) of multi-allele polymorphisms in the Huntington's disease region of chromosome 4. (1992) (5)
Linkage analysis in familial Alzheimer disease: Description of the Duke and Boston data sets (1993) (5)
Exon trapping and sequence-based methods of gene finding in transcript mapping of human 4p 16.3 (1997) (5)
Identification of a Novel Kindred with Familial Pancreatitis and Pancreatic Cancer (2009) (5)
Prevalence of Huntington's disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder (2015) (5)
mTOR kinase inhibition disrupts neuregulin 1-ERBB3 autocrine signaling and sensitizes NF2-deficient meningioma cellular models to IGF1R inhibition (2020) (5)
Application of recombinant DNA techniques to neurogenetic disorders. (1983) (5)
Dinucleotide repeat polymorphism at the topoisomerase (DNA) I pseudogene 2 (TOPIP2). (1992) (4)
Abstracts of workshop presentations (Part 7 of 16) (1987) (4)
Synteny conservation of the Huntington's disease gene and surrounding loci on mouse Chromosome 5 (1994) (4)
Molecular Genetic Strategies in Familial Alzheimer’s Disease: Theoretical and Practical Considerations (1988) (4)
- Catenin Signaling Pathway β Wnt / Reducing E-Cadherin and Activating the Meningiomas Promotes Tumor Growth by Downregulated MicroRNA-200 a in (2009) (4)
Self-injurious behaviours in people with and without intellectual delay: implications for the genetics of suicide. (2010) (4)
Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease (2015) (4)
The α-subunit of the skeletal muscle sodium channel is encoded proximal to Tk-1 on mouse Chromosome 11 (2004) (4)
Abstracts of workshop presentations (Part 3 of 16) (1987) (4)
Molecular genetics of familial Alzheimer's disease. (1989) (4)
Abstracts of workshop presentations (Part 1 of 16) (1987) (4)
Large-scale medical resequencing for X-linked mental retardation. (2010) (4)
MOLECULAR GENETIC ALTERATIONS IN PEDIATRIC BRAIN STEM GLIOMAS (1993) (4)
The role of mitochondrial DNA in Huntington’s disease (2008) (4)
Expanding the Notion of Disease in Huntington’s Disease (2007) (4)
Mapping of ornithine aminotransferase gene sequences to mouse Chromosomes 7, X, and 3 (2004) (4)
Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models (2022) (4)
DNA Markers in Huntington’s Disease (1985) (3)
DNA Markers in Familial Alzheimer’s Disease (1986) (3)
No association between alpha 1-antichymotrypsin and familial Alzheimer's disease. (1996) (3)
Abstracts of workshop presentations (Part 4 of 16) (1987) (3)
Identifying cell type specific driver genes in autism-associated copy number loci from cerebral organoids (2020) (3)
Studies on DNA markers (D4S10 and D4S43/S127) genetically linked to Huntington's disease in Japanese families (1990) (3)
Abstracts of workshop presentations (Part 11 of 13) (1985) (3)
Huntington Disease-Linked Locus D4Slll Exposed as the C~-L-Iduronidase Gene (1991) (3)
Chromosome-mediated transfer of the malignant phenotype by human acute myelogenous leukemic cells (1984) (3)
A 15‐bp deletion in exon 5 of the ornithine aminotransferase (OAT) locus associated with gyrate atrophy (1992) (3)
Discrepancy resolved (1993) (3)
Molecular genetic strategies to investigate Huntington's disease. (1988) (3)
Abstracts of workshop presentations (Part 8 of 16) (1987) (3)
Accuracy of testing for Huntington's disease (1986) (3)
704 ISOLATION OF DNA SEGMENTS FROM THE HUMAN X CHROMOSOME (1981) (3)
Gene linkage in familial amyotrophic lateral sclerosis: a progress report. (1991) (3)
FAN1 nuclease activity affects CAG expansion and age at onset of Huntington’s disease (2021) (3)
Huntingtons disease: linkage with G8 on chromosome 4 and its consequences. (1985) (2)
Parallelized engineering of mutational models using piggyBac transposon delivery of CRISPR libraries (2020) (2)
Two independent dinucleotide repeat polymorphisms at the D21S235 locus (21q22.1). (1992) (2)
Abstracts of workshop presentations (Part 11 of 16) (1987) (2)
Abstracts of workshop presentations (Part 14 of 16) (1987) (2)
The molecular genetic approach to familial alzheimer's disease (1986) (2)
Genetic linkage analysis of familial Alzheimer's disease (1987) (2)
Correction (2020) (2)
Assessing Population Level Genetic Instability via Moving Average (2010) (2)
Is the disruption of an N‐myristoyltransferase (NMT2) associated with hypoplastic testes? (2007) (2)
HD CAGnome: A Search Tool for Huntingtin CAG Repeat Length-Correlated Genes (2014) (2)
Abstracts of workshop presentations (Part 4 of 13) (1985) (2)
Association of the long QT syndrome With goiter and deafness. (2010) (2)
Association Analysis of Chromosome X to Identify Genetic Modifiers of Huntington's Disease. (2021) (2)
EFFECT OF MUTANT HUNTINGTIN ON STRIATAL NEURONS DIFFERENTIATED FROM HUNTINGTON’S DISEASE INDUCED PLURIPOTENT STEM CELLS (2011) (2)
Correction: dtorsin, the Drosophila Ortholog of the Early-Onset Dystonia TOR1A (DYT1), Plays a Novel Role in Dopamine Metabolism (2011) (2)
CHD8 suppression impacts on histone H3 lysine 36 trimethylation and alters RNA alternative splicing (2020) (2)
Abstracts of workshop presentations (Part 5 of 16) (1987) (2)
Inherited HTT CAG repeat length does not have a major impact on Huntington disease duration. (2022) (2)
The cell adhesion gene PVRL3 is associated with congenital ocular defects (2011) (2)
Genetic overlap between psychiatric disorders and neuropsychiatric symptoms in HD (2019) (2)
Exclusion of autosomal dominant dystonia gene from large regions of chromosomes 11p, 13q, and 21q by multi‐point linkage analysis (1987) (2)
Correction: Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome (2017) (2)
Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders (2022) (1)
Huntington’s disease age at motor onset is modified by the tandem hexamer repeat in TCERG1 (2021) (1)
Abstracts of workshop presentations (Part 9 of 16) (1987) (1)
Molecular cloning of a full length complementary dna for ornithine aminotransferase (1986) (1)
NONAGENARIANS WITH HUNTINGTON DISEASE (HD) HAVE LOW CAG REPEATS (1999) (1)
The onset and prevalence of motor and psychiatric symptoms in Huntington’s disease (2020) (1)
Abstracts of workshop presentations (Part 16 of 16) (1987) (1)
Abstracts of workshop presentations (Part 5 of 13) (1985) (1)
Abstracts of workshop presentations (Part 7 of 13) (1985) (1)
Chromosome 21 genetic linkage data set based on the Venezuelan reference pedigree. (1992) (1)
Genetic and Functional Heterogeneity of Tumors in Neurofibromatosis 2 (2014) (1)
ALZHEIMER DISEASE DOES NOT PROTECT THE NEOSTRIATUM IN COMBINED CASES OF HUNTINGTON (HD) AND ALZHEIMER DISEASE (AD) (1997) (1)
Chromosome-mediated transfer of the malignant phenotype by human acute myelogenous leukemic cells. (1984) (1)
Genetic analysis workshop IV: Huntington disease linkage analysis, data description (1986) (1)
Characterisation of a transgenic ovine model of Huntington’s disease (2011) (1)
1 – Molecular Genetic Analysis of the Phakomatoses (1991) (1)
A molecular genetic approach to Huntington's disease. (1987) (1)
Abstracts of workshop presentations (Part 6 of 13) (1985) (1)
Genetic linkage studies in autosomal dominantly inherited L-DOPA responsive parkinsonism. Evaluation of candidate genes. (1996) (1)
Detailed genetic linkage map of human chromosome 21: patterns of recombination according to age and sex. (1990) (1)
Abstracts of workshop presentations (Part 2 of 13) (1985) (1)
The search for the genetic defects in Huntington's disease and familial Alzheimer's disease. (1991) (1)
A linkage study with DNA markers (D4S95, D4S115, and D4S111) in Japanese Huntington disease families (1993) (1)
Comparison of Clinical Subgroup aCGH Profiles through Pseudolikelihood Ratio Tests (2011) (1)
Genomic screening for dissection of a complex disease: The multiple sclerosis phenotype (1994) (1)
Localization of DNA Sequences in Region Xp2 1 of the Human X Chromosome: Search for Molecular Markers (2006) (1)
A rare case of acquired immunodeficiency associated with myelodysplastic syndrome (2019) (1)
A Multi-Omic Huntington’s Disease Transgenic Sheep-Model Database for Investigating Disease Pathogenesis (2021) (1)
The Search for Additional Alzheimer’s Disease Genes (1996) (1)
miR-10b-5p expression in Huntington’s disease brain relates to age of onset and the extent of striatal involvement (2015) (1)
Data integration of bulk and single-cell transcriptomics from cerebral organoids and post-mortem brains to identify cell types and cell type specific driver genes in autism (2020) (0)
HD Repeat Determines the Rate of Neuropathological Change (2008) (0)
Human iPSC-derived neuron of 16p11.2 deletion reveals haplotype-specific expression of MAPK3 and its contribution to variable NDD phenotypes (2022) (0)
Genomic landscape of balanced cytogenetic abnormalities in subjects with multiple congenital anomalies (2016) (0)
Subject Index Vol. 42, 1986 (1986) (0)
Subject index Vol. 46, 1987 (1987) (0)
Supplementary Material for: Mutated Huntingtin Causes Testicular Pathology in Transgenic Minipig Boars (2016) (0)
Faculty Opinions recommendation of Rare variants create synthetic genome-wide associations. (2010) (0)
Faculty Opinions recommendation of Repetitive transcranial magnetic stimulation enhances BDNF-TrkB signaling in both brain and lymphocyte. (2011) (0)
Faculty Opinions recommendation of Do the print media "hype" genetic research? A comparison of newspaper stories and peer-reviewed research papers. (2004) (0)
Linkage Studies in a Large Kindred with Hereditary Sensory-Motor Neuropathy: Exclusion of the Duffy Locus on Chromosome 1 (1987) (0)
DNA HARKERS IN HUNTINGTON'S DISEASE (1985) (0)
Contents, Vol. 46, 1987/ Title Page / Table of Contents (1987) (0)
RING 21 CHROMOSOME: LOCALIZATION OF THE BREAKPOINTS WITHIN A 2 KB DNA FRAGMENT (1984) (0)
Dna markers in neurological disorders (1987) (0)
Assignment1 of persephin (PSPN), a human neurotrophic factor, to chromosome 19p13.3 by radiation hybrid mapping and somatic cell hybrid PCR (1999) (0)
Abstracts of workshop presentations (Part 10 of 13) (1985) (0)
Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington’s disease motor onset (2013) (0)
Variance in age of onset of Huntington's disease that is independent of CAG repeat length remains highly heritable. (2001) (0)
to terminal differentiation Hemin does not cause commitment of murine erythroleukemia (MEL) cells (2011) (0)
Contributors and Participants (1982) (0)
Faculty Opinions recommendation of The diploid genome sequence of an Asian individual. (2009) (0)
33rd Annual Meeting of the Pancreatic Society of Great Britain and Ireland. October 30–31, 2008, Derby, UK (2009) (0)
Huntington Disease and Alzheimer Disease (Chromosome 4 and 21) (1989) (0)
A RsaI polymorphism in the ERCC2 locus. (1992) (0)
Association of apolipoprotein E allele ε4 with late-onset familial and sporadic Alzheimer's disease (2011) (0)
Faculty Opinions recommendation of Neurotransmitter receptor homologues of Dictyostelium discoideum. (2009) (0)
Cover Image, Volume 173A, Number 2, February 2017. (2017) (0)
Mutational analysis of NF2 by in vitro expression assay (1994) (0)
Merlin tumor suppressor gene and uses thereof (1994) (0)
and in qui˝ering mice (1996) (0)
Faculty Opinions recommendation of High-resolution identification of balanced and complex chromosomal rearrangements by 4C technology. (2009) (0)
E.P.C. Society News (2009) (0)
Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9. (2016) (0)
Subject index Vol. 40, 1985 (1985) (0)
De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth (2020) (0)
Huntington’s disease age at motor onset is modified by the tandem hexamer repeat in TCERG1 (2022) (0)
Abstracts of workshop presentations (Part 13 of 16) (1987) (0)
Mutation Analysis in the NF2 Gene. (1996) (0)
Fine-Mapping of Restless Legs Locus 4 (RLS4) Identifies a Haplotype over the SPATS2L and KCTD18 Genes (2012) (0)
mTOR kinase inhibition disrupts neuregulin 1-ERBB3 autocrine signaling and sensitizes NF2-deficient meningioma cellular models to IGF1R inhibition. (2020) (0)
Award Number: W81XWH-13-1-0093 TITLE: Genetic and Functional Heterogeneity of Tumors in Neurofibromatosis 2 PRINCIPAL INVESTIGATOR: (2015) (0)
Tumor suppressor gene merlin and its use (1994) (0)
Linkage Disequilibrium between the Juvenile Neuronal Ceroid Lipofuscinosis Gene and Marker Loci on Chromosome 16p 1 2.1 (2007) (0)
Reply (1998) (0)
发育基因组解剖工程：寻找人类发育障碍基因的细胞遗传学方法 (2009) (0)
GENETIC ANALYSIS OF THE ALZHEIMER'S ASSOCIATED AMYLOID BETA PEPTIDE GENE (1988) (0)
The timing and impact of psychiatric, cognitive and motor abnormalities in Huntington’s disease (2020) (0)
Full sequence of mutant huntingtin 3′-untranslated region and modulation of its gene regulatory activity by endogenous microRNA (2019) (0)
Abstracts of workshop presentations (Part 8 of 13) (1985) (0)
Gametic butnotsomatic instability ofCAG repeat length inHuntington's disease (1993) (0)
Huntington's Disease Homozygotes (1987) (0)
A Cdk5-derived peptide inhibits Cdk5/p25 activity and improves neurodegenerative phenotypes. (2023) (0)
Principles of molecular genetics/Dystonia (1992) (0)
Splicing Defect attheOrnithine Aminotransferase (OAT)Locus inGyrateAtrophy (1990) (0)
Abstract 74: Palate and Mandibular Form are Regulated by Actin Capping Protein CAPZB Function (2015) (0)
CNV profiles of Chinese pediatric patients with developmental disorders (2021) (0)
12 – Huntington's disease (1988) (0)
CAG)n trinucleotide repeat is expanded in a novel gene in Huntingtonʼs disease (1995) (0)
Developmental Genome Anatomy Project Breakpoint localization updates (2001) (0)
Genotype Does Not Correlate with Internal Whole Body Tumor Burden in Neurofibromatosis I (NF1) (P3.149) (2017) (0)
Physical mapping of human chromosome 22 using yeast artificial chromosomes (1991) (0)
LZTR1 mutations associated with greater pain among patients with schwannomatosis (P6.142) (2018) (0)
NIMG-64. NOVEL METHODS FOR GENOTYPE-PHENOTYPE CORRELATION IN SCHWANNOMATOSIS (2016) (0)
Award : Human Disease Research : Genetic Cycling and Recycling 1 (0)
A Prospective Randomized Clinical Trial of Celecoxib for the Control of Symptomatic Plexiform Neurofibroma in Neurofibromatosis 1 (2005) (0)
Assessment of a CGH-based Genetic Instability (2007) (0)
Molecular andCytogenetic Characterization ofa DeNovot(Sp;21q) ina Patient Previously Diagnosed as Monosomy21 (1988) (0)
Valuable libraries (1987) (0)
The Role of Neurofilament Genes in Familial Alzheimer's Disease (1987) (0)
Abstract 91: Autophagy Mediates Environment-Gene Interactions in Orofacial Cleft Pathogenesis (2015) (0)
Genetic Studies of the Alzheimer’s Disease-Associated Amyloid β-Protein Precursor Gene and Familial Alzheimer’s Disease (1989) (0)
E01 CAG Repeat Length Predicts Rate of Striatal Atrophy, but Relationship is Nonlinear (2014) (0)
Title Sequence-Level Analysis of the Major European Huntington Disease Haplotype Permalink (0)
Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate (2013) (0)
O34: Application of long-read sequencing and telomere-to-telomere genome assembly unveils complex rearrangements and cryptic breakpoints of Robertsonian translocation and ring chromosomes* (2023) (0)
The role of mitochondrial DNA in Huntington's disease (2008) (0)
and Schwannoma Growth mTORC1 Is Associated with Meningioma mTOR Complex 1, and Activation of NF2/Merlin Is a Novel Negative Regulator of (2013) (0)
Alzheimer disease DNA sequence variants in APP Role of common and rare (2012) (0)
Dopamine beta-hydroxylase gene excluded in four subtypes of hereditary dystonia (1991) (0)
Huntingtin DNA, protein, and using (1994) (0)
SA21EXPLORING THE NEURODEVELOPMENTAL TRAJECTORY AND MODIFIER GENE OF 16P11.2 MICRODELETION USING INTRA AND INTER-FAMILY CARRIERS (2019) (0)
C10 Shared genetic liability between neuropsychiatric disorders and psychiatric symptoms in hd (2018) (0)
The Genetic Research Cycle in Human Disease: The Huntington's Disease Paradigm (2009) (0)
Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset (2012) (0)
Localization ofDNA Sequences inRegionXp21ofthe HumanX Chromosome: SearchforMolecular Markers ClosetotheDuchenneMuscular Dystrophy Locus (1985) (0)
Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project (DOI:10.1016/j.ajhg.2008.01.011) (2008) (0)
Poster 16: Genetic Approach to Huntington's Disease Therapeutics (2010) (0)
Neurofibromatosis type 2 (NF2) (2011) (0)
C04 Protein coding tandem repeat in TCERG1 modifies huntington’s disease onset (2021) (0)
AMYLOID PROTEIN PRECURSOR mRNA LACKING THE KUNITZ PROTEASE INHIBITOR SEQUENCE INCREASES IN AD NUCLEUS BASALIS AND LOCUS CERULEUS NEURONS (1988) (0)
Sequence of the voltage-gated sodium channel b-subunit in wild-type 1 and in qui Õ ering mice (1996) (0)
Haplotype-specific MAPK3 expression in 16p11.2 deletion contributes to variable neurodevelopment. (2023) (0)
2016 William Allan Award: Human Disease Research: Genetic Cycling and Re-cycling. (2017) (0)
Kinome Screen Reveals SGK1 as a Therapeutic Target for NF2: Inhibition of mTORC1/2 is More Effective than Rapamycin (2015) (0)
NF at the Millennium (2001) (0)

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