Stephen Warren | Academic Influence

Stephen Warren 's AcademicInfluence.com Rankings

Stephen Warren

Computer Science

#5281

World Rank

#5578

Historical Rank

#1557

USA Rank

Computational Linguistics

#695

World Rank

#707

Historical Rank

#36

USA Rank

Machine Learning

#1339

World Rank

#1360

Historical Rank

#109

USA Rank

Artificial Intelligence

#1575

World Rank

#1605

Historical Rank

#217

USA Rank

computer-science Degrees

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Computer Science

Stephen Warren 's Degrees

PhD Computer Science Stanford University
Masters Computer Science University of California, Berkeley
Bachelors Computer Science University of California, Berkeley

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Why Is Stephen Warren Influential?

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According to Wikipedia, Stephen T. Warren was an American geneticist and academic. He was the William Patterson Timmie Professor of Human Genetics and the Charles Howard Candler Chair of Human Genetics. He was the former Founding Chairman of the Department of Human Genetics at Emory University School of Medicine. He was an Investigator with the Howard Hughes Medical Institute from 1991 until 2002, when he resigned to found the Human Genetics department. Warren is well known for his work in the field of Human Genetics. His research was focused on the mechanistic understanding of fragile X syndrome, a leading cause of inherited developmental disability and autism. In 2020, Warren stepped down as department chair after 20 years in that position.

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Stephen Warren '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

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome (1991) (3264)
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox (1991) (2046)
The mGluR theory of fragile X mental retardation (2004) (1515)
Absence of expression of the FMR-1 gene in fragile X syndrome (1991) (1398)
Altered synaptic plasticity in a mouse model of fragile X mental retardation (2002) (1265)
Microarray Identification of FMRP-Associated Brain mRNAs and Altered mRNA Translational Profiles in Fragile X Syndrome (2001) (1102)
Fragile X Syndrome: Loss of Local mRNA Regulation Alters Synaptic Development and Function (2008) (998)
Fragile X Mental Retardation Protein Targets G Quartet mRNAs Important for Neuronal Function (2001) (923)
Fragile X genotype characterized by an unstable region of DNA (1991) (802)
FMR1 protein: conserved RNP family domains and selective RNA binding. (1993) (742)
DNA methylation represses FMR-1 transcription in fragile X syndrome. (1992) (694)
Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathway (2004) (643)
Fragile X Mental Retardation Protein: Nucleocytoplasmic Shuttling and Association with Somatodendritic Ribosomes (1997) (530)
FMRP associates with polyribosomes as an mRNP, and the I304N mutation of severe fragile X syndrome abolishes this association. (1997) (529)
A mutation in human CMP-sialic acid hydroxylase occurred after the Homo-Pan divergence. (1998) (526)
A decade of molecular studies of fragile X syndrome. (2002) (490)
Molecular mechanisms of fragile X syndrome: a twenty-year perspective. (2012) (478)
The fragile X mental retardation protein inhibits translation via interacting with mRNA. (2001) (467)
Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers. (2001) (437)
Trinucleotide repeat expansion and human disease. (1995) (420)
The fragile X mental retardation protein is a ribonucleoprotein containing both nuclear localization and nuclear export signals. (1996) (399)
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities (2011) (395)
The pathophysiology of fragile x syndrome. (2007) (378)
Tissue specific expression of FMR–1 provides evidence for a functional role in fragile X syndrome (1993) (370)
RNA-Mediated Neurodegeneration Caused by the Fragile X Premutation rCGG Repeats in Drosophila (2003) (368)
Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles (1994) (368)
Understanding the molecular basis of fragile X syndrome. (2000) (366)
Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. (2009) (365)
RNA and microRNAs in fragile X mental retardation (2004) (362)
Reversible inhibition of PSD-95 mRNA translation by miR-125a, FMRP phosphorylation, and mGluR signaling. (2011) (346)
Phosphorylation influences the translation state of FMRP-associated polyribosomes. (2003) (333)
The fragile X protein controls microtubule-associated protein 1B translation and microtubule stability in brain neuron development. (2004) (329)
Acetylated histones are associated with FMR1 in normal but not fragile X-syndrome cells (1999) (322)
Fragile X mouse: strain effects of knockout phenotype and evidence suggesting deficient amygdala function (1999) (321)
Translational suppression by trinucleotide repeat expansion at FMR1 (1995) (320)
Age-associated DNA methylation in pediatric populations. (2012) (317)
Fragile X syndrome (2008) (306)
Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes (2011) (306)
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. (2010) (301)
Genetic instabilities and hereditary neurological diseases (1998) (290)
Local RNA Translation at the Synapse and in Disease (2011) (288)
Pur α Binds to rCGG Repeats and Modulates Repeat-Mediated Neurodegeneration in a Drosophila Model of Fragile X Tremor/Ataxia Syndrome (2007) (286)
(Over)correction of FMR1 deficiency with YAC transgenics: behavioral and physical features. (2000) (276)
Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG–repeat (1993) (270)
Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways. (2007) (266)
TMS1, a novel proapoptotic caspase recruitment domain protein, is a target of methylation-induced gene silencing in human breast cancers. (2000) (260)
Identification of small molecules rescuing fragile X syndrome phenotypes in Drosophila. (2008) (257)
Fragile X mental retardation protein deficiency leads to excessive mGluR5-dependent internalization of AMPA receptors (2007) (245)
Excess Phosphoinositide 3-Kinase Subunit Synthesis and Activity as a Novel Therapeutic Target in Fragile X Syndrome (2010) (235)
Reversal of Disease-Related Pathologies in the Fragile X Mouse Model by Selective Activation of GABAB Receptors with Arbaclofen (2012) (231)
FMRP Phosphorylation Reveals an Immediate-Early Signaling Pathway Triggered by Group I mGluR and Mediated by PP2A (2007) (231)
S6K1 Phosphorylates and Regulates Fragile X Mental Retardation Protein (FMRP) with the Neuronal Protein Synthesis-dependent Mammalian Target of Rapamycin (mTOR) Signaling Cascade* (2008) (216)
Characterization of the full fragile X syndrome mutation in fetal gametes (1997) (204)
New insights into fragile X syndrome: from molecules to neurobehaviors. (2003) (201)
Microdeletions of 3q29 confer high risk for schizophrenia. (2010) (190)
Isolation of an FMRP-Associated Messenger Ribonucleoprotein Particle and Identification of Nucleolin and the Fragile X-Related Proteins as Components of the Complex (1999) (190)
Purified Recombinant Fmrp Exhibits Selective RNA Binding as an Intrinsic Property of the Fragile X Mental Retardation Protein* (1998) (189)
Advances in molecular analysis of fragile X syndrome. (1994) (188)
Genome‐wide association study of schizophrenia in Ashkenazi Jews (2015) (180)
Histone modifications depict an aberrantly heterochromatinized FMR1 gene in fragile x syndrome. (2002) (179)
The Unstable Repeats—Three Evolving Faces of Neurological Disease (2013) (177)
The Expanding World of Trinucleotide Repeats (1996) (170)
Genome-wide DNA hydroxymethylation changes are associated with neurodevelopmental genes in the developing human cerebellum. (2012) (159)
Polyglutamine domain modulates the TBP-TFIIB interaction: implications for its normal function and neurodegeneration (2007) (157)
Rapid isolation of DNA probes within specific chromosome regions by interspersed repetitive sequence polymerase chain reaction. (1990) (157)
Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats (1997) (155)
Human genes containing polymorphic trinucleotide repeats (1992) (152)
Transcription, translation and fragile X syndrome. (2006) (150)
A Genome-Wide Scan of Ashkenazi Jewish Crohn's Disease Suggests Novel Susceptibility Loci (2012) (148)
Replication stress induces genome-wide copy number changes in human cells that resemble polymorphic and pathogenic variants. (2009) (138)
Elevated spontaneous mutation rate in Bloom syndrome fibroblasts. (1981) (137)
A Chromatin-Dependent Role of the Fragile X Mental Retardation Protein FMRP in the DNA Damage Response (2014) (135)
High resolution methylation analysis of the FMR1 gene trinucleotide repeat region in fragile X syndrome. (1993) (134)
Inhibition of cell-cell communication by tumor promoters. (1982) (128)
Replication stress induces tumor-like microdeletions in FHIT/FRA3B (2008) (123)
Microarray‐based mutation detection in the dystrophin gene (2008) (114)
Aberrant Protein Deposition and Neurological Disease* (1999) (113)
New perspectives on the biology of fragile X syndrome. (2012) (112)
Signatures of founder effects, admixture, and selection in the Ashkenazi Jewish population (2010) (109)
Independent role for presynaptic FMRP revealed by an FMR1 missense mutation associated with intellectual disability and seizures (2015) (108)
Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males (2010) (108)
The fragile X site in somatic cell hybrids: an approach for molecular cloning of fragile sites. (1987) (107)
Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS (2012) (104)
Polyalanine Expansion in Synpolydactyly Might Result from Unequal Crossing-Over of HOXD13 (1997) (104)
Sp1 Binding Is Critical for Promoter Assembly and Activation of the MCP-1 Gene by Tumor Necrosis Factor* (2000) (98)
A sequence variation scan of the coagulation factor VIII (FVIII) structural gene and associations with plasma FVIII activity levels. (2007) (94)
Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: A case report and review of the literature (2008) (92)
Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. (1995) (88)
Subtelomeric hotspots of aberrant 5-hydroxymethylcytosine-mediated epigenetic modifications during reprogramming to pluripotency (2013) (88)
Fragile X protein functions with lgl and the par complex in flies and mice. (2005) (87)
Identification of mouse YB1/p50 as a component of the FMRP-associated mRNP particle. (2000) (86)
Reactivation of FMR1 by CRISPR/Cas9-Mediated Deletion of the Expanded CGG-Repeat of the Fragile X Chromosome (2016) (86)
Human FMRP contains an integral tandem Agenet (Tudor) and KH motif in the amino terminal domain. (2015) (84)
Association of the Mouse Infertility Factor DAZL1 with Actively Translating Polyribosomes1 (2000) (80)
Fragile X syndrome due to a missense mutation (2014) (78)
Re-examination of factors associated with expansion of CGG repeats using a single nucleotide polymorphism in FMR1. (1998) (75)
Analysis of FMRP mRNA target datasets reveals highly associated mRNAs mediated by G-quadruplex structures formed via clustered WGGA sequences. (2014) (74)
Triplet repeat expansion mutations: the example of fragile X syndrome. (1995) (74)
Physical map of human Xq27-qter: localizing the region of the fragile X mutation. (1991) (72)
Reciprocal Duplication of the Williams-Beuren Syndrome Deletion on Chromosome 7q11.23 Is Associated with Schizophrenia (2014) (70)
FMR1 in global populations. (1996) (68)
Four chromosomal breakpoints and four new probes mark out a 10-cM region encompassing the fragile-X locus (FRAXA). (1991) (67)
Assignment of X-linked hydrocephalus to Xq28 by linkage analysis. (1990) (66)
Case-control meta-analysis of blood DNA methylation and autism spectrum disorder (2018) (65)
Isolation and characterization of a UV-sensitive hypermutable aphidicolin-resistant Chinese hamster cell line (1982) (65)
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion (2020) (64)
Fragile X Syndrome: An Update and Review for the Primary Pediatrician (2005) (63)
Physiological identification of human transcripts translationally regulated by a specific microRNA. (2005) (62)
Gene Expression Profiles in a Transgenic Animal Model of Fragile X Syndrome (2002) (57)
Isolation of the human chromosomal band Xq28 within somatic cell hybrids by fragile X site breakage. (1990) (57)
The effect of FMR1 CGG repeat interruptions on mutation frequency as measured by sperm typing. (1997) (57)
Trinucleotide repeat expansions in neurological disease (1993) (57)
Trinucleotide repeat instability: when and where? (1993) (57)
NEW ORLEANS (2009) (57)
Assignment of the creatine transporter gene (SLC6A8) to human chromosome Xq28 telomeric to G6PD. (1995) (56)
The fragile X syndrome: no evidence for any recent mutations. (1993) (56)
Survey of the fragile X syndrome CGG repeat and the short-tandem-repeat and single-nucleotide-polymorphism haplotypes in an African American population. (2000) (56)
Further localization of X-linked hydrocephalus in the chromosomal region Xq28. (1992) (55)
Normal variation at the myotonic dystrophy locus in global human populations. (1995) (52)
Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes. (1994) (52)
The chicken FMR1 gene is highly conserved with a CCT 5'-untranslated repeat and encodes an RNA-binding protein. (1996) (51)
The fragile X mental retardation protein, FMRP, recognizes G-quartets. (2004) (51)
Evolution of the cryptic FMR1 CGG repeat (1995) (51)
Come FLY with us: toward understanding fragile X syndrome (2005) (49)
Identification of consensus binding sites clarifies FMRP binding determinants (2016) (49)
Argonaute2 Is Essential for Mammalian Gastrulation and Proper Mesoderm Formation (2007) (48)
Quantitative comparison of FMR1 gene expression in normal and premutation alleles. (1995) (46)
Fragile X premutations are not a major cause of early menopause. (1997) (46)
Genome-wide analysis validates aberrant methylation in fragile X syndrome is specific to the FMR1 locus (2013) (45)
Modulating huntingtin half‐life alters polyglutamine‐dependent aggregate formation and cell toxicity (2004) (42)
Brief communication: possible X-linked anencephaly and spina bifida--report of a kindred. (1980) (41)
A human forebrain organoid model of fragile X syndrome exhibits altered neurogenesis and highlights new treatment strategies (2021) (41)
Neurogenetics: Advancing the “Next-Generation” of Brain Research (2010) (41)
Fine mapping of the human biglycan (BGN) gene within the Xq28 region employing a hybrid cell panel. (1992) (40)
Fragile X CGG repeat structures among African-Americans: identification of a novel factor responsible for repeat instability. (2000) (40)
X inactivation of the FMR1 fragile X mental retardation gene. (1995) (40)
Actin-binding protein (ABP-280) filamin gene (FLN) maps telomeric to the color vision locus (R/GCP) and centromeric to G6PD in Xq28. (1993) (39)
Familial occurrence of congenital pulmonary lymphangiectasis. Genetic implications. (1981) (39)
Single-Nucleotide Mutations in FMR1 Reveal Novel Functions and Regulatory Mechanisms of the Fragile X Syndrome Protein FMRP (2015) (37)
Potential role of the human Ha‐ras oncogene in the inhibition of gap junctional intercellular communication (1989) (37)
Emerin deletions occurring on both Xq28 inversion backgrounds. (1998) (35)
Array-based assay detects genome-wide 5-mC and 5-hmC in the brains of humans, non-human primates, and mice (2014) (34)
Unraveling the genetic architecture of copy number variants associated with schizophrenia and other neuropsychiatric disorders (2017) (34)
The molecular basis of fragile X syndrome. (1996) (34)
Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study. (1991) (33)
Array-Based FMR1 Sequencing and Deletion Analysis in Patients with a Fragile X Syndrome–Like Phenotype (2010) (31)
PEMapper and PECaller provide a simplified approach to whole-genome sequencing (2017) (30)
Voltage-Independent SK-Channel Dysfunction Causes Neuronal Hyperexcitability in the Hippocampus of Fmr1 Knock-Out Mice (2018) (29)
Behavioral changes and growth deficits in a CRISPR engineered mouse model of the schizophrenia-associated 3q29 deletion (2018) (29)
Prenatal diagnosis of the fragile X syndrome: loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus. (1997) (28)
Colocalization of the gene for nephrogenic diabetes insipidus (DIR) and the vasopressin type 2 receptor gene (AVPR2) in the Xq28 region. (1992) (28)
Nuclease sensitivity of permeabilized cells confirms altered chromatin formation at the fragile X locus (1996) (28)
Empirical Evaluation of Oligonucleotide Probe Selection for DNA Microarrays (2010) (26)
Evaluation of the carcinogenic potential of 2,4-dinitrofluorobenzene and its implications regarding mutagenicity testing. (1982) (25)
A 3′ untranslated region variant in FMR1 eliminates neuronal activity-dependent translation of FMRP by disrupting binding of the RNA-binding protein HuR (2015) (25)
Coordination of Engineered Factors with TET1/2 Promotes Early-Stage Epigenetic Modification during Somatic Cell Reprogramming (2014) (25)
The Conserved, Disease-Associated RNA Binding Protein dNab2 Interacts with the Fragile X Protein Ortholog in Drosophila Neurons. (2017) (24)
Symposium on Three-Dimensional Structure of Macromolecules of Biological Origin. by Invitation of the Committee on Arrangements for the Autumn Meeting. Presented before the Academy on October 19, 1966. Chairman, Walter Kauzmann: THE CRYSTAL STRUCTURE OF LACTIC DEHYDROGENASE (1967) (23)
Genetic determinants of normal variation in coagulation factor (F) IX levels: genome‐wide scan and examination of the FIX structural gene (2006) (23)
Partial FMRP expression is sufficient to normalize neuronal hyperactivity in Fragile X neurons (2019) (21)
Toward pluripotency by reprogramming: mechanisms and application (2013) (21)
The epigenetics of fragile X syndrome. (2007) (21)
A single base alteration in the CGG repeat region of FMR1: possible effects on gene expression and phenotype (2002) (20)
The Biology of Down Syndrome (1985) (20)
Cell-type-specific profiling of human cellular models of fragile X syndrome reveal PI3K-dependent defects in translation and neurogenesis (2021) (20)
Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care (2021) (19)
Emery-Dreifuss muscular dystrophy. (1999) (19)
Isolation and characterization of human factor IX cDNA: Identification of Taq I polymorphism and regional assignment (1984) (19)
Hemizygous mutations in SNAP 29 unmask autosomal recessive conditions and contribute to atypical fi ndings in patients with 22 q 11 . 2 DS (2013) (19)
A fragile X male with a broad smear on Southern blot analysis representing 100-500 CGG repeats and no methylation at the EagI site of the FMR-1 gene. (1996) (18)
The female and the fragile X reviewed. (2001) (18)
Neuroscience: Fragile dopamine (2008) (18)
Molecular diagnosis of Beckwith-Wiedemann Syndrome using quantitative methylation-sensitive polymerase chain reaction (2006) (18)
Expression of fragile X chromosome in human-rodent somatic cell hybrids (1984) (17)
Transcription elongation factor SII (TCEA) maps to human chromosome 3p22 --> p21.3. (1996) (16)
Intragenic probe used for diagnostics in fragile X families. (1992) (16)
Development and characterization of antibodies that immunoprecipitate the FMR1 protein. (2003) (15)
Metabolic cooperation in CHO and V79 cells following treatment with a tumor promoter. (1981) (15)
Lack of imprinting of BCR (1994) (14)
Linkage and recombination between fragile X-linked mental retardation and the factor IX gene (2004) (12)
Strategy for molecular cloning of the fragile X site DNA. (1988) (12)
Isolation and characterization of a highly polymorphic human locus (DXS455) in proximal Xq28. (1992) (12)
Molecular evidence for true isochromosome 21q (1988) (11)
In vitro assay for tumor promoters and anti-promoters. (1978) (11)
Regulation of Glycoconjugate Metabolism in Normal and Transformed Cells (1980) (10)
Microdeletion in the FMR-1 gene: an apparent null allele using routine clinical PCR amplification (2001) (10)
Trinucleotide repetition and fragile X syndrome. (1997) (9)
PCR amplification and analysis of yeast artificial chromosomes. (1992) (9)
Comprehensive phenotyping of neuropsychiatric traits in a multiplex 3q29 deletion family: a case report (2020) (8)
Convergent and distributed effects of the 3q29 deletion on the human neural transcriptome (2021) (7)
A catalog of hemizygous variation in 127 22q11 deletion patients (2016) (7)
An evidence-based approach to establish the functional and clinical significance of CNVs in intellectual and developmental disabilities (7)
Fragile X syndrome: a hypothesis regarding the molecular mechanism of the phenotype. (1988) (7)
Genome rearrangement and stability (1995) (7)
Minimum description length block finder, a method to identify haplotype blocks and to compare the strength of block boundaries. (2003) (6)
Complete sequence of a 38.4-kb human cosmid insert containing the polymorphic marker DXS455 from Xq28. (1995) (6)
Isolation of 353 NotI-linking clones and 62 DNA markers (DXS607-DXS668) from human chromosome Xq24-->qter. (1993) (6)
Analysis of FMRP, the protein deficient in fragile X syndrome (1995) (6)
Erratum: Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia (The American Journal of Human Genetics (2010) 87 (618-630)) (2011) (5)
FMR1 and the Fragile X Syndrome (2016) (5)
Robust Regression Analysis of Copy Number Variation Data based on a Univariate Score (2014) (5)
Analysis of the genomic expression profile in trisomy 18: insight into possible genes involved in the associated phenotypes. (2019) (5)
Genome-wide analysis validates aberrant methylation in fragile X syndrome is specific to the FMR 1 locus (4)
CGG‐repeat polymorphism of the BCR gene rules out predisposing alleles leading to the philadelphia chromosome (1994) (4)
Corrigendum: Tissue specific expression of FMR–1 provides evidence for a functional role in fragile X syndrome (1993) (4)
2006 ASHG Presidential Address. Our society and the scientist-citizen. (2007) (3)
Fragile X Syndrome and X-Linked Intellectual Disability (2013) (3)
THE ASSOCIATION FOR MOLECULAR PATHOLOGY, THE AMERICAN COLLEGE OF MEDICAL GENETICS, THE AMERICAN SOCIETY FOR CLINICAL PATHOLOGY, THE COLLEGE OF AMERICAN PATHOLOGISTS, HAIG KAZAZIAN, MD, (2010) (3)
Identifying susceptibility genes for primary ovarian insufficiency on the high-risk genetic background of a fragile X premutation (2021) (2)
Erratum: Human genes containing polymorphic trinucleotide repeats (Nature Genetics 2, 186-191 (1992)) (1993) (2)
Corrigendum: Human genes containing polymorphic trinucleotide repeats (1993) (2)
Polymorphism in the FMR1 gene (1998) (2)
Peripheral blood DNA methylation and autism spectrum disorder (2018) (2)
Loss-of-function of OTUD7A in the schizophrenia-associated 15q13.3 deletion impairs synapse development and function in human neurons (2022) (2)
Chapter 2 – Fragile X Syndrome Genetics (2017) (2)
The fragile X mental retardation protein FMRP plays a role in the DNA damage response (2012) (2)
Mutations in the emery-dreifuss muscular dystrophy gene and evidence for an autosomal form (1996) (2)
A new millennium and a new editor. (2000) (2)
A SEQUENCE VARIATION SCAN OF THE COAGULATION FACTOR ( F ) VIII STRUCTURAL GENE AND ASSOCIATIONS WITH PLASMA FVIII ACTIVITY ( FVIII : C ) LEVELS (2007) (1)
PEMapper / PECaller: A simplified approach to whole-genome sequencing (2016) (1)
Onrginal articles X inactivation of the FMR 1 fragile X mental retardation gene (1)
Path to understanding the pathophysiology of Fragile X syndrome (2007) (1)
FMRP N-terminal domain (2014) (1)
Genomic Tics in Tourette Syndrome (2012) (1)
Disruption of the microRNA pathway by the targeted loss of eIF2C2 results in aberrant primitive streak formation (2006) (1)
Excess PI3K subunit synthesis and activity as a novel therapeutic target in Fragile X Syndrome (2010) (1)
Metabolic effects of the schizophrenia-associated 3q29 deletion (2020) (1)
CGG repeat polymorphism at the c-Ha-ras oncogene locus. (1992) (1)
News from the Editor (2000) (1)
Identification of PSMB5 as a genetic modifier of fragile X–associated tremor/ataxia syndrome (2022) (1)
Neurobiology of Related Disorders: Fragile X Syndrome (2006) (1)
Array-based assay detects genome-wide 5-mC and 5-hmC in the brains of humans, non-human primates, and mice (2014) (1)
Isolation and characterization of the complete mouse emerin gene (1997) (1)
Reply to Plüss et al.: The strength of PEMapper/PECaller lies in unbiased calling using large sample sizes (2017) (1)
Fragile X Syndrome Patient–Derived Neurons Developing in the Mouse Brain Show FMR1-Dependent Phenotypes (2021) (1)
Trinucleotide Repeats: Dynamic DNA and Human Disease (2001) (1)
Faculty Opinions recommendation of Phosphoregulated FMRP phase separation models activity-dependent translation through bidirectional control of mRNA granule formation. (2019) (0)
T11METABOLIC DYSFUNCTION AS A CONTRIBUTOR TO PHENOTYPES OF THE SCHIZOPHRENIA-ASSOCIATED 3Q29 DELETION (2019) (0)
Faculty Opinions recommendation of Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database. (2019) (0)
Sequence based evaluation of the remaining allele in 22q11.2 deletion patients (2016) (0)
CONGENITAL PULMONARY LYMPHANGIECTASIS OCCURRING IN SIBLINGS: POSSIBLE GENETIC IMPLICATIONS (1977) (0)
Faculty Opinions recommendation of Navigating the nuances of clinical sequence variant interpretation in Mendelian disease. (2018) (0)
Human-mouse chimeric Fragile X syndrome model reveals FMR1-dependent neuronal phenotypes (2020) (0)
Allelism in human oculocutaneous albinism. (1981) (0)
Brief Communication: Possible X-Lin ked (1980) (0)
R E so N an Ce Sl Ice Neuroscience Fragile Dopamine (0)
Isolation of an FMRP-associated mRNP and the identification of nucleolin and the fragile X-related proteins as components of the complex (1999) (0)
Molecular Genetics in Clinical Practice (2006) (0)
1 Emerin deletions occurring on both Xq28 inversion (1997) (0)
Faculty Opinions recommendation of Extensive sex differences at the initiation of genetic recombination. (2018) (0)
7SCHIZOPHRENIA POLYGENIC RISK SCORE ANALYSIS IN 22Q11.2 DELETION SYNDROME (2019) (0)
Faculty Opinions recommendation of Assembly of a pan-genome from deep sequencing of 910 humans of African descent. (2019) (0)
57. MODELING THE LOSS-OF-FUNCTION MUTATION OF OTUD7A WITHIN THE SCHIZOPHRENIA-ASSOCIATED 15Q13.3 MICRODELETION IN HUMAN NEURONS (2021) (0)
The human genome: a diamond in the rough. (2012) (0)
Toward pluripotency by reprogramming: mechanisms and application (2013) (0)
BRIEF OF AMICI CURIAE, INFORMATION SOCIETY PROJECT AT YALE LAW SCHOOL SCHOLARS IN SUPPORT OF PLAINTIFFS-APPELLEES d (2010) (0)
Faculty Opinions recommendation of Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies. (2018) (0)
Mapping the vasopressin V2 receptor gene near nephrogenic Diabetes insipidus (1992) (0)
Prenatal diagnosis ofthefragile X syndrome: loss ofmutation owingtoadouble recombinant or geneconversion event attheFMR1 locus (1997) (0)
Fragile X syndrome, an X-linked dominant disorder with reduced penetrance, is associated with intellectual (2008) (0)
Dynamic regulation of mRNA translation in neurons by FMRP and microRNAs (2013) (0)
Fragile X-syndrome and autism: Is there a relationship at the molecular level? (1998) (0)
Advances in human molecular genetics influence clinical genetic practice (1992) (0)
Notice of Policy (2003) (0)
Fragile X Syndrom E: Loss of Loc Al Mrn a Regulation Alters Synaptic D Evelopm Ent and Function (2009) (0)
Cross-species transcriptomic analysis identifies mitochondrial dysregulation as a functional consequence of the schizophrenia-associated 3q29 deletion (2023) (0)
PRACTICAL GENETICS In association with Fragile X syndrome Fragile (2009) (0)
Faculty Opinions recommendation of Predictive utility of polygenic risk scores for coronary heart disease in three major racial and ethnic groups. (2020) (0)
Descriptive analysis of seizures and comorbidities associated with fragile X syndrome (2022) (0)
FMRP N-terminal domain (R138Q) (2014) (0)
Faculty Opinions recommendation of Taking an antiracist posture in scientific publications in human genetics and genomics. (2021) (0)
Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome (2020) (0)
Faculty Opinions recommendation of A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis. (2019) (0)

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