Charles E. Schwartz

Charles E. Schwartz's AcademicInfluence.com Rankings

Charles E. Schwartz

Computer Science

#9141

World Rank

#9606

Historical Rank

#1733

USA Rank

Machine Learning

#3932

World Rank

#3980

Historical Rank

#153

USA Rank

Artificial Intelligence

#4263

World Rank

#4323

Historical Rank

#263

USA Rank

Database

#6128

World Rank

#6354

Historical Rank

#804

USA Rank

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Computer Science

Charles E. Schwartz's Degrees

PhD Computer Science Stanford University
Masters Computer Science Stanford University

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Charles E. Schwartz'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 systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation (2009) (582)
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. (2008) (578)
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures (2008) (539)
AGTR2 Mutations in X-Linked Mental Retardation (2002) (456)
Uniparental paternal disomy in a genetic cancer-predisposing syndrome (1991) (419)
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans (2003) (405)
Targeted sequencing identifies 91 neurodevelopmental disorder risk genes with autism and developmental disability biases (2017) (392)
Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. (2005) (321)
X chromosome-inactivation patterns of 1,005 phenotypically unaffected females. (2006) (291)
Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: A putative Rho Rac guanine nucleotide exchange factor (1994) (286)
A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation (1997) (282)
High frequency of neurexin 1β signal peptide structural variants in patients with autism (2006) (265)
A novel X–linked gene, DDP, shows mutations in families with deafness (DFN–1), dystonia, mental deficiency and blindness (1996) (258)
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation (2007) (248)
The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2. (1997) (232)
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. (2010) (224)
5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects. (1996) (223)
Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders. (2002) (221)
Mediator links epigenetic silencing of neuronal gene expression with x-linked mental retardation. (2008) (220)
Fragile X and X-linked intellectual disability: four decades of discovery. (2012) (219)
Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate (2005) (217)
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. (2008) (212)
Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28 (2006) (205)
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. (2008) (205)
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome (2008) (202)
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome (2007) (201)
Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor. (2007) (199)
Obstetrical and gynecological complications in fragile X carriers: a multicenter study. (1994) (198)
Coding exons function as tissue-specific enhancers of nearby genes (2012) (197)
Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability (2010) (193)
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders (2012) (186)
Neurodevelopmental and neuropsychiatric disorders represent an interconnected molecular system (2014) (185)
Evidence of founder chromosomes in fragile X syndrome (1992) (184)
A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22. (1995) (181)
A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor. (2005) (176)
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene (2007) (175)
Intellectual disability and autism spectrum disorders: Causal genes and molecular mechanisms (2014) (173)
X-linked creatine transporter defect: An overview (2003) (172)
Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation. (2004) (170)
Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus. (2007) (160)
Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability (2015) (158)
MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM (1994) (153)
Neurexin 1α structural variants associated with autism (2008) (148)
X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome (2003) (140)
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability (2010) (139)
A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease. (2009) (139)
Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair. (2008) (135)
The MCT8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome. (2007) (133)
Detecting polymorphisms and mutations in candidate genes. (2002) (131)
A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation. (2014) (130)
Decreased tryptophan metabolism in patients with autism spectrum disorders (2013) (129)
X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology (2006) (128)
Differences in methylenetetrahydrofolate reductase genotype frequencies, between Whites and Blacks. (1997) (124)
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders. (2020) (121)
Detection of restriction fragment length polymorphisms at the centromeres of human chromosomes by using chromosome-specific alpha satellite DNA probes: implications for development of centromere-based genetic linkage maps. (1986) (120)
Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability. (2010) (120)
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution (2016) (119)
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency (2013) (114)
Deletion (X)(q26.1-->q28) in a proband and her mother: molecular characterization and phenotypic-karyotypic deductions. (1993) (113)
Molecular heterogeneity of the fragile X syndrome. (1991) (112)
Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes. (2018) (110)
Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth. (2014) (106)
A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition. (2010) (104)
X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28. (2002) (104)
CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes (2010) (104)
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants (2018) (103)
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. (2003) (101)
Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation. (2006) (100)
X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27 (1999) (100)
Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions. (2019) (99)
Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans (2007) (99)
X-Linked MCT8 Gene Mutations: Characterization of the Pediatric Neurologic Phenotype (2005) (98)
Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia (2008) (93)
Allan-Herndon syndrome. II. Linkage to DNA markers in Xq21. (1990) (92)
A role of the (pro)renin receptor in neuronal cell differentiation. (2009) (92)
A missense mutation in CASK causes FG syndrome in an Italian family. (2009) (88)
An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity. (2012) (88)
Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1. (1998) (87)
Genotype-phenotype relationship in patients with mutations in thyroid hormone transporter MCT8. (2008) (87)
Computational analysis of missense mutations causing Snyder‐Robinson syndrome (2010) (84)
Analysis of the neuroligin 4Y gene in patients with autism (2008) (82)
Gain-of-function glutamate receptor interacting protein 1 variants alter GluA2 recycling and surface distribution in patients with autism (2011) (81)
Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly. (2007) (77)
X‐linked intellectual disability update 2017 (2018) (77)
A missense mutation in CLIC2 associated with intellectual disability is predicted by in silico modeling to affect protein stability and dynamics (2011) (76)
Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 Demethylase KDM5C (2013) (76)
Re-examination of factors associated with expansion of CGG repeats using a single nucleotide polymorphism in FMR1. (1998) (75)
eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation. (2012) (73)
BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes (2018) (72)
An extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype. (1993) (71)
Identification and characterization of a missense mutation in the O-linked β-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability (2017) (70)
Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males (2004) (70)
Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks. (2010) (70)
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation (2005) (69)
Determination of the genomic structure of the XNP/ATRX gene encoding a potential zinc finger helicase. (1997) (69)
Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly. (2004) (68)
Zebrafish knockout of Down syndrome gene, DYRK1A, shows social impairments relevant to autism (2017) (68)
A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9) (2004) (66)
MED12 related disorders (2013) (65)
Spermine synthase and MYC cooperate to maintain colorectal cancer cell survival by repressing Bim expression (2020) (65)
A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25 (2000) (64)
Natural history of Christianson syndrome (2010) (64)
The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance (2017) (64)
Familial predisposition to Wilms tumor does not segregate with the WT1 gene. (1991) (63)
ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal (2007) (61)
X-linked intellectual disability: unique vulnerability of the male genome. (2009) (61)
Fragile X syndrome: growth, development, and intellectual function. (1988) (61)
Molecular cloning and characterization of TRPC5 (HTRP5), the human homologue of a mouse brain receptor-activated capacitative Ca2+ entry channel. (1999) (60)
Y65C Missense Mutation in the WW Domain of the Golabi-Ito-Hall Syndrome Protein PQBP1 Affects Its Binding Activity and Deregulates Pre-mRNA Splicing* (2010) (60)
The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior. (2007) (57)
Physical mapping of new DNA probes near the fragile X mutation (FRAXA) by using a panel of cell lines. (1990) (57)
XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28. (1999) (57)
Functional characterization of tissue-specific enhancers in the DLX5/6 locus. (2012) (57)
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)
MED12 mutations link intellectual disability syndromes with dysregulated GLI3-dependent Sonic Hedgehog signaling (2012) (56)
Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene (2006) (56)
In Silico and In Vitro Investigations of the Mutability of Disease-Causing Missense Mutation Sites in Spermine Synthase (2011) (56)
Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome (2017) (56)
Examination of factors associated with instability of the FMR1 CGG repeat. (1998) (55)
New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder–Robinson X-linked recessive mental retardation syndrome (2008) (55)
Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome. (1988) (54)
Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome (2017) (54)
DRD2 and PPP1R1B (DARPP-32) polymorphisms independently confer increased risk for autism spectrum disorders and additively predict affected status in male-only affected sib-pair families (2012) (54)
Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity. (2015) (54)
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. (2010) (53)
Mutation in the 5′ alternatively spliced region of the XNP/ATR-X gene causes Chudley–Lowry syndrome (2005) (53)
Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C (2018) (53)
Redefining the Etiologic Landscape of Cerebellar Malformations. (2019) (53)
RAI1 is a novel polyglutamine encoding gene that is deleted in Smith-Magenis syndrome patients. (2001) (53)
Clinical and molecular contributions to the understanding of X-linked mental retardation (2003) (53)
Allan-Herndon-Dudley syndrome: clinical and linkage studies on a second family. (1992) (52)
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome (2019) (52)
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype–phenotype correlation (2010) (52)
DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome. (2016) (50)
Allan-Herndon syndrome. I. Clinical studies. (1990) (50)
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders (2021) (50)
Carpenter-Waziri syndrome results from a mutation in XNP. (1999) (50)
Affected Kindred Analysis of Human X Chromosome Exomes to Identify Novel X-Linked Intellectual Disability Genes (2015) (49)
Early detection of fragile X syndrome: applications of a novel approach for improved quantitative methylation analysis in venous blood and newborn blood spots. (2014) (49)
X-Linked Mental Retardation (1999) (49)
A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients (2003) (48)
Genetic mapping of new DNA probes at Xq27 defines a strategy for DNA studies in the fragile X syndrome. (1991) (46)
Intellectual disability associated with a homozygous missense mutation in THOC6 (2013) (46)
A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58 (2002) (45)
Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice (2016) (44)
Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome (2002) (44)
ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons (2015) (42)
Genotype prediction in the fragile X syndrome. (1991) (42)
HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study (2016) (41)
FG syndrome: report of three new families with linkage to Xq12-q22.1. (1998) (41)
Confirmation of FWT1 as a Wilms’ tumour susceptibility gene and phenotypic characteristics of Wilms’ tumour attributable to FWT1 (1998) (41)
Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X‐linked intellectual disability associated with behavioral problems and mild dysmorphism (2011) (40)
A new X‐linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the Alpha 4 gene at Xq13 (2003) (40)
GRASP1 Regulates Synaptic Plasticity and Learning through Endosomal Recycling of AMPA Receptors (2017) (40)
Fragile X syndrome detection in newborns—pilot study (2008) (39)
O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling (2018) (39)
Is the E133K allele of VG5Q associated with Klippel-Trenaunay and other overgrowth syndromes? (2005) (39)
X-linked mental retardation: in pursuit of a gene map. (1993) (38)
Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype (2002) (38)
Clinical Validation of a Genome-Wide DNA Methylation Assay for Molecular Diagnosis of Imprinting Disorders. (2017) (38)
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders (2019) (38)
Hereditary thrombosis in a Utah kindred is caused by a dysfunctional antithrombin III gene. (1985) (38)
Mutation analysis of the tumor suppressor PTEN and the glypican 3 (GPC3) gene in patients diagnosed with Proteus syndrome (2004) (37)
X-linked mental retardation with thin habitus, osteoporosis, and kyphoscoliosis: linkage to Xp21.3-p22.12. (1996) (36)
Structural assessment of the effects of Amino Acid Substitutions on protein stability and protein-protein interaction (2010) (36)
FG syndrome, an X-linked multiple congenital anomaly syndrome: The clinical phenotype and an algorithm for diagnostic testing (2009) (36)
Chromosomal assignment of genes encoding the α, β, and γ subunits of human complement protein C8: Identification of a close physical linkage between the α and the β loci (1989) (36)
XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene (2005) (35)
A polymorphic human myosin heavy chain locus is linked to an anonymous single copy locus (D17S1) at 17p13. (1986) (34)
Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2‐q22.1 (1995) (34)
Two patients with duplication of 17p11.2: the reciprocal of the Smith-Magenis syndrome deletion? (1996) (34)
Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder (2019) (33)
Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation (2002) (33)
Clinical and behavioral characteristics in FG syndrome. (1999) (33)
Atlas of X-Linked Intellectual Disability Syndromes (2012) (32)
Spermine synthase deficiency resulting in X-linked intellectual disability (Snyder-Robinson syndrome). (2011) (31)
17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD) (2011) (31)
Agenesis of the corpus callosum associated with MASA syndrome (1993) (31)
Clinical Validation of Fragile X Syndrome Screening by DNA Methylation Array. (2016) (30)
Duplications on human chromosome 22 reveal a novel Ret Finger Protein-like gene family with sense and endogenous antisense transcripts. (1999) (30)
Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin–Lowry syndrome (2007) (30)
Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome. (2000) (29)
A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome. (2013) (29)
In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells (2014) (29)
Relationship between age and IQ among fragile X males: a multicenter study. (1991) (28)
Hypothesis: Dysregulation of methylation of brain‐expressed genes on the X chromosome and autism spectrum disorders (2008) (28)
Screen for MAOA mutations in target human groups. (1999) (28)
Polyamine Homeostasis in Snyder-Robinson Syndrome (2018) (28)
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders (2021) (28)
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy (2020) (28)
PIK 3 CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution (2018) (27)
Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome (2008) (27)
The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linked hydrocephalus. (1998) (27)
X-linked mental retardation syndrome with short stature, small hands and feet, seizures, cleft palate, and glaucoma is linked to Xq28. (1999) (27)
Renpenning syndrome maps to Xp11. (1998) (27)
Evidence that SIZN1 is a candidate X‐linked mental retardation gene (2008) (27)
A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS). (1998) (26)
A new X linked recessive syndrome of mental retardation and mild dysmorphism maps to Xq28. (1997) (26)
ATP6AP2 variant impairs CNS development and neuronal survival to cause fulminant neurodegeneration. (2019) (26)
Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS) (1999) (25)
Revealing the Effects of Missense Mutations Causing Snyder-Robinson Syndrome on the Stability and Dimerization of Spermine Synthase (2016) (25)
Spastic paraplegia with iron deposits in the basal ganglia: a new X-linked mental retardation syndrome. (1992) (25)
Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant. (2015) (25)
Autism and intellectual disability: Two sides of the same coin (2012) (25)
Behavior of 10 patients with FG syndrome (Opitz–Kaveggia syndrome) and the p.R961W mutation in the MED12 gene (2008) (25)
Disruption of DMD and deletion of ACSL4 causing developmental delay, hypotonia, and multiple congenital anomalies (2005) (24)
Relationships between the human pepsinogen DNA and protein polymorphisms. (1986) (24)
An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase (2020) (24)
Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism (2016) (24)
Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome (2015) (24)
The FU gene and its possible protein isoforms (2004) (24)
A microdeletion in Xp11.3 accounts for co‐segregation of retinitis pigmentosa and mental retardation in a large kindred (2006) (24)
Arch fingerprints, hypotonia, and areflexia associated with X linked mental retardation. (1997) (23)
Radiation fusion hybrids for human chromosomes 3 and X generated at various irradiation doses (1992) (23)
Fragile X phenotype in a patient with a large de novo deletion in Xq27-q28. (1994) (23)
Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects (2018) (22)
Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database (2011) (22)
Microarray data integration for genome-wide analysis of human tissue-selective gene expression (2010) (22)
Fragile X–related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study (2012) (22)
A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation (2007) (21)
Seventh International Workshop on the Fragile X and X-linked Mental Retardation. (1996) (21)
DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome (2021) (20)
PCR and serology find no association between xenotropic murine leukemia virus-related virus (XMRV) and autism (2010) (20)
Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty. (2013) (20)
P63 mutations are not a major cause of non-syndromic split hand/foot malformation (2003) (20)
Fragile X syndrome: incidence, clinical and cytogenetic findings in the black and white populations of South Carolina. (1988) (20)
Recurrent duplications of 17q12 associated with variable phenotypes (2015) (20)
ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal (2009) (19)
Localization of branchio-oto-renal (BOR) syndrome to a 3 Mb region of chromosome 8q. (1994) (19)
New somatic cell hybrids for physical mapping in distal Xq and the fragile X region. (1991) (19)
DNA fingerprinting: the utilization of minisatellite probes to detect a somatic mutation in the proteus syndrome. (1991) (18)
MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression (2017) (18)
Two sisters with a distal deletion at the Xq26/Xq27 interface: DNA studies indicate that the gene locus for factor IX is present (1987) (18)
Intellectual Disability Syndromes (2013) (18)
Longitudinal changes in IQ among fragile X males: clinical evidence of more than one mutation? (1992) (18)
Disruption of RAB40AL function leads to Martin–Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder (2012) (18)
Intellectual disability, midface hypoplasia, facial hypotonia, and alport syndrome are associated with a deletion in Xq22.3 (2010) (18)
Stocco dos Santos X‐linked mental retardation syndrome: Clinical elucidation and localization to Xp11.3–Xq21.3 (2003) (18)
The impact of spermine synthase (SMS) mutations on brain morphology (2009) (17)
Norman-Roberts syndrome: clinical and molecular studies. (1993) (17)
MRX8: an X-linked mental retardation condition with linkage to Xq21. (1992) (17)
Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes (2007) (17)
Mutation and evolutionary analyses identify NR2E1-candidate-regulatory mutations in humans with severe cortical malformations (2007) (17)
X-linked mental retardation with variable stature, head circumference, and testicular volume linked to Xq12-q21. (1999) (17)
Aberrant tryptophan metabolism: the unifying biochemical basis for autism spectrum disorders? (2014) (17)
FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis (2018) (16)
Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders. (2019) (16)
19q13.32 microdeletion syndrome: three new cases. (2014) (16)
X chromosome cDNA microarray screening identifies a functional PLP2 promoter polymorphism enriched in patients with X-linked mental retardation. (2007) (16)
Germline mosaicism in X‐linked myotubular myopathy (1999) (16)
A family with mental retardation, variable macrocephaly and macro-orchidism, and linkage to Xq12-q21. (1998) (15)
Aarskog-Scott syndrome: confirmation of linkage to the pericentromeric region of the X chromosome. (1994) (15)
Low-level maternal exposure to nicotine associates with significant metabolic perturbations in second-trimester amniotic fluid. (2017) (15)
Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis (2015) (15)
Multilocus analysis of the fragile X syndrome (1988) (15)
Targeted Next Generation Sequencing Analysis of 1000 individuals with Intellectual Disability (2015) (15)
Characteristics of the transmission of the FMR1 gene from carrier females in a prospective sample of conceptuses. (1994) (14)
The complete loss of function of the SMS gene results in a severe form of Snyder-Robinson syndrome. (2020) (14)
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders. (2021) (13)
Spermine synthase activity affects the content of decarboxylated S-adenosylmethionine. (2011) (13)
X-linked mental retardation syndrome with seizures, hypogammaglobulinemia, and progressive gait disturbance is regionally mapped between xq21.33 and Xq23. (1999) (13)
Familial split hand/split foot long bone deficiency does not segregate with markers linked to the SHFD1 locus in 7q21.3-q22.1. (1994) (12)
Short-term memory deficits in carrier females with KDM5C mutations. (2012) (12)
Shashi XLMR syndrome: Report of a second family (2003) (12)
Association of FK506 binding proteins with RyR channels – effect of CLIC2 binding on sub-conductance opening and FKBP binding (2017) (12)
Linkage homogeneity near the fragile X locus in normal and fragile X families. (1991) (12)
Study of X-linked mental retardation (XLMR): summary of 61 families in the Miami/Greenwood Study. (1996) (12)
A distinct X‐linked syndrome involving joint contractures, keloids, large optic cup‐to‐disc ratio, and renal stones results from a filamin A (FLNA) mutation (2016) (12)
Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation. (2000) (12)
Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation? (2012) (11)
Deletion mapping of plasminogen activator inhibitor, type I (PLANH1) and beta-glucuronidase (GUSB) in 7q21----q22. (1991) (11)
Partial ATRX gene duplication causes ATR‐X syndrome (2009) (11)
X‐linked intellectual disability: Phenotypic expression in carrier females (2019) (11)
Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked. (2009) (11)
Somatic/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array‐based comparative genomic hybridization (2011) (11)
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation (2012) (11)
Diagnostic screening for spermine synthase deficiency by liquid chromatography tandem mass spectrometry. (2011) (11)
Seizures and X-linked intellectual disability. (2012) (11)
Clark‐Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12 (2019) (10)
Penetrance of mutations in the familial Wilms tumor gene FWT1. (2000) (10)
Finding new etiologies of mental retardation and hypotonia: X marks the spot (2008) (10)
TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation (2004) (9)
X-linked mental retardation: the early era from 1943 to 1969. (1994) (9)
Dysregulations of sonic hedgehog signaling in MED12‐related X‐linked intellectual disability disorders (2019) (9)
Linkage analysis of Von Recklinghausen neurofibromatosis: Chromosomes 4 and 19 (1986) (9)
Gene for apparently nonsyndromic X-linked mental retardation (MRX32) maps to an 18-Mb region of Xp21.2-p22. (1999) (8)
Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation (1999) (8)
Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele (2012) (8)
9th international workshop on fragile X syndrome and X-linked mental retardation. (2000) (8)
Progress in detecting genetic alterations and their association with human disease. (2013) (7)
Y 65 C Missense Mutation in the WW Domain of the Golabi-Ito-Hall Syndrome Protein PQBP 1 Affects Its Binding Activity and Deregulates Pre-mRNA Splicing * (2010) (7)
Discordance in deoxyribonucleic acid analysis of fetus and trophoblast. (1988) (7)
Pelizaeus‐Merzbacher syndrome: Neurocognitive function in a family with carrier manifestations (2007) (6)
Direct analysis of the FMR-1 gene provides an explanation for an exceptional case of a fragile X negative, mentally retarded male in a fragile X family. (1992) (6)
AGTR2 in brain development and function (2006) (5)
Malformations among the X‐linked intellectual disability syndromes (2013) (5)
The parental origin and mechanism of formation of three dicentric X chromosomes (1988) (5)
Chromosomal assignment of genes encoding the alpha, beta, and gamma subunits of human complement protein C8: identification of a close physical linkage between the alpha and the beta loci. (1989) (5)
Eighth International workshop on the fragile X syndrome and X-linked mental retardation, August 16-22, 1997. (1999) (5)
Fragile X syndrome: linkage analysis in black and white populations. (1988) (5)
A genome-wide analysis of loss of heterozygosity and chromosomal copy number variation in Proteus syndrome using high-density SNP microarrays (2010) (5)
X‐linked mental retardation with alacrima and achalasia—Triple A syndrome or a new syndrome? (2011) (4)
Creatine Transporter Deficiency (2011) (4)
(R,R)-1,12-Dimethylspermine can mitigate abnormal spermidine accumulation in Snyder–Robinson syndrome (2020) (4)
Calendar of Events: 1991 — 1992 (1991) (4)
Snyder-Robinson Syndrome (2013) (4)
Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders (2021) (4)
Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders (2022) (4)
Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type (2021) (4)
XLMR database. (1999) (4)
GM3 synthase deficiency in non-Amish patients (2021) (4)
Protein sector analysis for the clustering of disease-associated mutations (2014) (4)
Schimke XLID syndrome results from a deletion in BCAP31. (2020) (4)
Refined gene localization for the Miles-Carpenter syndrome (MCS) (1999) (4)
Difficult diagnosis of the fragile X syndrome made possible by direct detection of DNA mutations. (1992) (4)
The use of a new multiplex PCR assay significantly improves the rapid detection of deletions in the dystrophin gene. (1991) (4)
Exclusion of nine candidate genes for their involvement in X-linked FG syndrome (FGS1) in three families. (2000) (3)
Arena syndrome is caused by a missense mutation in PLP1 (2009) (3)
Localization of the Miller-Dieker critical region is proximal to locus D17S34 (p144D6) in 17p13.3. (1990) (3)
Refined gene localization for MRX7. (1999) (3)
Increased p53 signaling impairs neural differentiation in HUWE1-promoted intellectual disabilities (2021) (3)
A silent mutation , C 924 T ( G 308 G ) , in the Li CAM gene results in X linked hydrocephalus ( HSAS ) (3)
Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711 (2022) (3)
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants (2018) (3)
Renpenning syndrome evidence for pericentric location of the gene in two families, including the original Renpenning family (1994) (3)
X‐Linked Intellectual Disability Genetics (2015) (2)
Gene Localization and Clinical Redefinition of the Snyder-Robinson Syndrome (1992) (2)
Rare pathogenic variants in WNK3 cause X-linked intellectual disability. (2022) (2)
Program and abstracts for the 2012 Joint Meeting of the Society for Glycobiology & American Society for Matrix Biology (2012) (2)
Physical mapping of probes proximal to the fragile X locus (FRAX) confirms the order F9-DXS105 (cX55.7)-DXS98 (4D8)-FRAXA. (1989) (2)
Genetics of X-Linked Intellectual Disability (2016) (2)
PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in split hand/foot malformation (2022) (2)
UBE2A-related X-linked intellectual disability (2019) (2)
Craniofacioskeletal syndrome: An X‐linked dominant disorder with early lethality in males (2007) (2)
Family MRX9 revisited: further evidence for locus heterogeneity in MRX. (2002) (2)
Rare variants in the genetic background modulate the expressivity of neurodevelopmental disorders (2018) (1)
Alpha-Thalassemia Intellectual Disability (See Also Atrx-Associated XLID) (2011) (1)
Allan-Herndon-Dudley Syndrome (2011) (1)
Research Review Hypothesis: Dysregulation of Methylation of Brain- Expressed Genes on the X Chromosome and Autism Spectrum Disorders (2008) (1)
In search of the earliest images of symmelia in works of art (2021) (1)
New Strategies for Clinical Trials in Autism Spectrum Disorder. (2020) (1)
Monoamine Oxidase-A Deficiency (2011) (1)
X‐Linked intellectual disability update 2022 (2022) (1)
Genetic linkage analysis places locus DXS250 between locus DXYS1 and locus DXS3 in Xq21.3. (1992) (1)
Protein sector analysis for the clustering of disease-associated mutations (2014) (1)
The Future of Clinical Diagnosis (2019) (1)
Rare missense variant p.Ala505Ser in the ZAK protein observed in a patient with split-hand/foot malformation from a non-consanguineous pedigree (2020) (1)
Ornithine Transcarbamoylase Deficiency (2011) (1)
Absence of mutations in and in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly (2011) (1)
Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome (2017) (1)
Refined gene localization for MRX8. (1999) (1)
Table 1. [Summary of Molecular Genetic Testing Used in Snyder-Robinson Syndrome]. (2013) (1)
High prevalence of SLC6A8 deficiency, a novel X-linked mental retardation syndrome (2005) (1)
Localization to Xq22 and clinical update of a family with X-linked recessive mental retardation with progression sensorineural deafness, progressive tapeto-retinal degeneration and dystonia (1994) (1)
Corrigendum to: CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes (2010) (1)
Giuffré-Tsukahara Syndrome (2011) (0)
XLID-Cleft LIP/Cleft Palate (2011) (0)
XLID-Macrocephaly-Macroorchidism (2011) (0)
Wilson-Turner syndrome (2011) (0)
Carpenter-Waziri Syndrome (See also ATRX-Associated XLID) (2011) (0)
Phosphoglycerate Kinase Deficiency (2011) (0)
Graham Anophthalmia Syndrome (2011) (0)
Cerebro-Oculo-Genital Syndrome (2011) (0)
Epilepsy-Intellectual Disability in Females (EIDF) (2011) (0)
Hydrocephaly-Masa Spectrum (2011) (0)
Cerebro-Palato-Cardiac Syndrome (See also Renpenning Syndrome) (2011) (0)
Identification of a DNA methylation signature for renpenning syndrome (RENS1), a spliceopathy. (2023) (0)
Holmes-Gang Syndrome (See Also Atrx-Associated Xlid) (2011) (0)
ATL AS OF X-L INKED INTELLECTUAL (2017) (0)
Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked. (2009) (0)
Phenotypic and molecular description of an individual with a disruptive variant in the SULF2 gene. (2019) (0)
Recurrent 1q21.1 microdeletions associated with variable disease phenotypes (2008) (0)
Optic Atrophy, X-Linked (2011) (0)
XLID-Arch Fingerprints-Hypotonia Syndrome (See also ATRX-Associated XLID) (2011) (0)
Miles-Carpenter Syndrome (Mcs) Results From a Mutation in Zc4h2, a Gene Involved in V2 Interneuron Specification Particularly the Generation of Gabaergic Inhibitory Interneurons (2015) (0)
The male face of MECP2: double gene dosage leads to a specific MR phenotype: towards a detailed genotype-phenotype correlation (2006) (0)
XLID-Infantile Spasms (See also ARX-Associated XLID) (2011) (0)
N-Alpha-Acetyltransferase Deficiency (2011) (0)
Say-Meyer Syndrome (2011) (0)
1 Polyamine Homeostasis in Snyder-Robinson 2 Syndrome 3 (2018) (0)
Analysis of duplications on chromosome 22 reveals a novel Ret finger protein like (RFPL) gene family with sense and endogenous antisense transcripts. (1999) (0)
Opitz FG Syndrome (2011) (0)
Subject Index Vol. 99, 2002 (2003) (0)
In Silico Investigation of a Missense Mutation in CLIC2 Associated with Intellectual Disability (2011) (0)
FLNA-Associated XLID (2011) (0)
Publisher's Note: Association of FK506 binding proteins with RyR channels - effect of CLIC2 binding on sub-conductance opening and FKBP binding. J. Cell Sci. doi: 10.1242/jcs.204461. (2017) (0)
Oral-Facial-Digital Syndrome I (2011) (0)
XLID-Thyroid Aplasia-Cutis Verticis Gyrata (2011) (0)
Title Page / Table of Contents / Abstracts (1991) (0)
Lissencephaly And Abnormal Genitalia, X-Linked (See Also Arx-Associated XLID) (2011) (0)
Genotype prediction inthefragile X syndrome (2017) (0)
Role of epigenetic dysregulation in neurodevelopmental syndromes: lessons from KDM5C mutations (2011) (0)
Proud Syndrome (See also ARX-Associated XLID) (2011) (0)
Periventricular Nodular Heterotopia (See also FLNA-Associated XLID) (2011) (0)
In Silico Investigation of Mutability of Spermine Synthase (2011) (0)
Massively parallel sequencing of the X chromosome coding exons for the identification of novel X-linked disease genes (2009) (0)
Hypoparathyroidism, X-Linked (2011) (0)
Goldblatt Spastic Paraplegia Syndrome (2011) (0)
The relevance of deep genomic analyses in families with variably expressive CNVs in the era of personalized medicine (2021) (0)
Fragile X syndrome detection in newborns—pilot (2008) (0)
An unusual cause for Coffin–Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3 (2019) (0)
Genes, chromosomes and disease (2009) (0)
Charcot-Marie-Tooth Neuropathy, Ionasescu Variant (2011) (0)
XLID-Microcephaly-Testicular Failure (2011) (0)
Mohr-Tranebjaerg Syndrome (2011) (0)
Homfray Seizures-Contractures (2011) (0)
Branchial Arch Syndrome, X-Linked (2011) (0)
XLID-Isolated Growth Hormone Deficiency (2011) (0)
Opitz-Kaveggia (FG) and Lujan syndromes are allelic having mutations in the MED12 gene (2007) (0)
Hereditary Bullous Dystrophy, X-Linked (2011) (0)
Young-Hughes Syndrome (2011) (0)
sensory hyperarousal associated with X linked mental retardation and ARHGEF9 disruption in a female patient is (2009) (0)
New Editors, Features and Procedures (1989) (0)
Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome (2018) (0)
Development of a cell-based metabolic test for the identification of individuals with autism spectrum disorder (2021) (0)
In Silico Modeling the Effects of Missense Mutations Causing Snyder-Robinson Syndrome and Rescuing the Effects by Small Molecules Binding (2013) (0)
Spermine synthase and MYC cooperate to maintain colorectal cancer cell survival by repressing Bim expression (2020) (0)
Prevalence of the 677C-T MTHFR Mutation in Whites and Blacks in South Carolina, and Comparison with Prevalence in Other Populations (2006) (0)
Pyruvate Dehydrogenase Deficiency (2011) (0)
A new test for autism spectrum disorder: Metabolic data from different cell types (2021) (0)
Crosstalk between histone modifications and DNA methylation in patients with intellectual disability due to JARID1C mutations (2010) (0)
XLID-Epilepsy (XIDE) (2011) (0)
Brief Gene Mapping Reports A / B / C (2003) (0)
Genome-wide identification of new differentially methylated regions associated with imprinted genes (2011) (0)
Table 2. [SMS Pathogenic Variants Discussed in This GeneReview]. (2013) (0)
Cerebro-Cerebello-Coloboma Syndrome (2011) (0)
University of Dundee An intellectual disability syndrome with single nucleotide variants in O-GlcNAc Transferase Pravata, (2020) (0)
Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects (2018) (0)
Gene localization in the Snyder-Robinson syndrome (1994) (0)
Xq 22 . fractures , and mental deficiency is linked to syndrome with blindness , dystonia , A new X linked recessive deafness (0)
Thesite ofamissense mutation inthe extracellular IgorFN domainsofLiCAM influences infant mortality andtheseverity ofX linked hydrocephalus (1998) (0)
Vacterl-Hydrocephalus Syndrome (2011) (0)
Glycerol Kinase Deficiency (2011) (0)
Miles-Carpenter Syndrome (2011) (0)
Rett-Like Seizures-Hypotonia (2011) (0)
Otopalatodigital Syndrome II (See also FLNA-Associated XLID) (2011) (0)
Hall Orofacial Syndrome (2011) (0)
Apak Ataxia-Spastic Diplegia Syndrome (2011) (0)
Receptor Channel Activity (2012) (0)
Pallister W Syndrome (2011) (0)
A therapeutic and economic assessment of betaseron® in MS (1996) (0)
Hydranencephaly with Abnormal Genitalia (See Also ARX-Associated XLID) (2011) (0)
Complex genomic architecture at xq28 results in duplication of mecp2 commonly found in a specific subset of MR patients (2007) (0)
Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked. (2009) (0)
Charcot-Marie-Tooth Neuropathy, Cowchock Variant (2011) (0)
Subject Index Vol. 56, 1991 (1991) (0)
retardation2.3) and non-syndromic mental a female patient with an X;autosome translocation ) gene in ZNF741 ( KLF8 Abnormal expression of the (2008) (0)
Porteous Syndrome (See also Renpenning Syndrome) (2011) (0)
XLID-Hydrocephaly-Basal Ganglia Calcifications (See also AP1S2-Associated XLID) (2011) (0)
Golabi-Ito-Hall Syndrome: (See also Renpenning Syndrome) (2011) (0)
Identification and characterization of new mental retardation genes linked to the X chromosome (2005) (0)
Duplications of the MECP2 region are commonly found in a specific subset of MR patients; towards a detailed genotype-phenotype correlation (2006) (0)
An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase (2020) (0)
NOVEL VARIATIONS AND PATHOGENIC MUTATIONS IN THE SLC6A8 GENE: VALIDATION OF PREDICTION TOOLS (2009) (0)
XLID-Rolandic Seizures (2011) (0)
Stocco Dos Santos Syndrome (2011) (0)
Difficult diagnosis ofthefragile X syndrome madepossible bydirect detection ofDNA (1992) (0)
Agenesis of the Corpus Callosum, X-Linked (2011) (0)
Erratum: Identification and characterization of two novel JARID1C mutations: Suggestion of an emerging genotype-phenotype correlation (European Journal of Human Genetics (2010) 18 (330-335) DOI: 10.1038/ejhg.2009.175) (2012) (0)
gene MED12 missense mutation (p.N1007S) in the The original Lujan syndrome family has a novel (2008) (0)
XLID-Spastic Paraplegia, Type 7 (2011) (0)
Archfingerprints, hypotonia, andareflexia associated withX linked mentalretardation (1997) (0)
Norman-roberts syndrome: Clinical and molecular genetics studies (1992) (0)
Screening of a cohort of 100 male XLMR patients using a new full coverage chromosome X exon-specific array (2009) (0)
XLID-Spastic Paraplegia-Athetosis (2011) (0)
Smith-Fineman-Myers Syndrome (2011) (0)
AP1S2-Associated XLID (2011) (0)
Radiation hybrids for the proximal long arm of the X chromosome and their use in the derivation of an ordered set of cosmid markers from a defined subregion in proximal Xq13.1 (1994) (0)
Partington Syndrome (See also ARX-Associated XLID) (2011) (0)
Sutherland-Haan Syndrome (See also Renpenning Syndrome) (2011) (0)
severity of X linked hydrocephalus . influences infant mortality and the L 1 CAMextracellular Ig or FN domains of The site of a missense mutation in the (0)
Increased p53 signaling impairs neural differentiation causing HUWE1-promoted intellectual disabilities (2020) (0)
X-linked creatine transporter deficiency: molecular and biochemical aspects (2005) (0)
Contents Vol. 99, 2002 (2003) (0)
Two New Cases of Bachmann–Bupp Syndrome Identified through the International Center for Polyamine Disorders (2023) (0)
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome (2019) (0)
Lissencephaly, X-Linked (2011) (0)
A newX linked recessive deafness syndrome withblindness, dystonia, fractures, andmental deficiency islinked toXq22 (1995) (0)
Cornelia de Lange Syndrome, X-Linked (2011) (0)
Hydrocephaly-cerebellar agenesis syndrome (2011) (0)
ATRX-Associated Xlid (2011) (0)
Chudley-Lowry Syndrome (See also ATRX-Associated XLID) (2011) (0)
Mutations in human RAB39B gene are responsible for X-linked non-specific mental retardation (2009) (0)
AFX mutations frequently cause X-linked mental retardation (2002) (0)
XLID-Choroideremia-Ectodermal Dysplasia (2011) (0)
A de novo deletion in X 27-28 spans at least 3 megabases and results in fragile X syndrome (1994) (0)
MASA syndrome is caused by mutations in the neural cell adhesion gene, L1CAM (1994) (0)
Ataxia-Deafness-Dementia, X-Linked (2011) (0)
XLID-Hypotonia-Recurrent Infections (2011) (0)
KDM5C gene variant and non-syndromic X-linked intellectual disability: an updated case report (2021) (0)
The Future of Clinical Diagnosis: Moving Functional Genomics Approaches to the Bedside. (2020) (0)
Three-State Protein Stability Prediction from Sequence-Based Features (2017) (0)
Chassaing-Lacombe Chondrodysplasia (2011) (0)
deletions in neurofibromatosis type 1 . Constitutional and mosaic large NF 1 gene (0)
architecture-driven DNA breaks and break-induced replication duplications mediated by genomicMECP 2 Nonrecurrent Material Supplemental (2008) (0)
Molecular analysis of two patients with a duplicated 17p11.2 indicates that this entity may be the reciprocal of the deletion seen in Smith-Magenis syndrome (1994) (0)
Genomics of MECP2 duplications (2008) (0)
Turner XLID (See also AP1S2-Associated XLID) (2011) (0)
XLID with Thyroxine-Binding Globulin Deficiency (2011) (0)
Telecanthus-Hypospadias Syndrome (2011) (0)
Different types of disease‐causing noncoding variants revealed by genomic and gene expression analyses in families with X‐linked intellectual disability (2021) (0)
Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C (2018) (0)
Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome (2017) (0)
Expanding allelic and phenotypic spectrum of ZC4H2‐related disorder: A novel hypomorphic variant and high prevalence of tethered cord (2022) (0)
Eye movement defects in KO zebrafish reveals SRPK3 as a causative gene for an X-linked intellectual disability (2023) (0)
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases (2017) (0)

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