Arthur L. Beaudet

Arthur L. Beaudet's AcademicInfluence.com Rankings

Arthur L. Beaudet

Biology

#5225

World Rank

#7654

Historical Rank

Genetics

#463

World Rank

#534

Historical Rank

biology Degrees

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Biology

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Arthur L. Beaudet'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

Clinical whole-exome sequencing for the diagnosis of mendelian disorders. (2013) (1706)
The NIH Roadmap Epigenomics Mapping Consortium (2010) (1680)
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1 (1993) (1589)
Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism (2011) (1218)
Molecular findings among patients referred for clinical whole-exome sequencing. (2014) (1163)
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci (2015) (1106)
Chromosomal microarray versus karyotyping for prenatal diagnosis. (2012) (989)
High-throughput discovery of novel developmental phenotypes (2016) (824)
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome (1997) (817)
Mutation of the Angelman Ubiquitin Ligase in Mice Causes Increased Cytoplasmic p53 and Deficits of Contextual Learning and Long-Term Potentiation (1998) (791)
Evaluation, Diagnosis, and Treatment of Gastrointestinal Disorders in Individuals With ASDs: A Consensus Report (2010) (691)
Genomic DNA transfer with a high-capacity adenovirus vector results in improved in vivo gene expression and decreased toxicity (1998) (688)
Sequential contribution of L- and P-selectin to leukocyte rolling in vivo (1995) (621)
Inflammatory and immune responses are impaired in mice deficient in intercellular adhesion molecule 1. (1993) (615)
Decreased Resistance to Bacterial Infection and Granulocyte Defects in IAP-Deficient Mice (1996) (584)
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster (2008) (561)
Angelman syndrome 2005: Updated consensus for diagnostic criteria (2006) (521)
Mutation of the E6-AP Ubiquitin Ligase Reduces Nuclear Inclusion Frequency While Accelerating Polyglutamine-Induced Pathology in SCA1 Mice (1999) (514)
P-Selectin or Intercellular Adhesion Molecule (Icam)-1 Deficiency Substantially Protects against Atherosclerosis in Apolipoprotein E–Deficient Mice (2000) (513)
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation (2017) (499)
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size (2009) (478)
Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons (1997) (476)
Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3. (2011) (466)
Uniparental disomy as a mechanism for human genetic disease. (1988) (466)
Mice Deficient in the α7 Neuronal Nicotinic Acetylcholine Receptor Lack α-Bungarotoxin Binding Sites and Hippocampal Fast Nicotinic Currents (1997) (464)
Epigenetics and human disease. (2004) (456)
Spontaneous Skin Ulceration and Defective T Cell Function in CD18 Null Mice (1998) (432)
Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region (1994) (431)
Administration of helper-dependent adenoviral vectors and sequential delivery of different vector serotype for long-term liver-directed gene transfer in baboons. (1999) (420)
A minimal role for selectins in the recruitment of leukocytes into the inflamed liver microvasculature. (1997) (407)
Infectious susceptibility and severe deficiency of leukocyte rolling and recruitment in E-selectin and P-selectin double mutant mice (1996) (397)
The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology. (2007) (361)
Role of lysosomal acid lipase in the metabolism of plasma low density lipoprotein. Observations in cultured fibroblasts from a patient with cholesteryl ester storage disease. (1975) (356)
Mice Lacking Specific Nicotinic Acetylcholine Receptor Subunits Exhibit Dramatically Altered Spontaneous Activity Patterns and Reveal a Limited Role for Retinal Waves in Forming ON and OFF Circuits in the Inner Retina (2000) (353)
Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. (2007) (336)
LFA-1 is sufficient in mediating neutrophil emigration in Mac-1-deficient mice. (1997) (329)
A suggested nomenclature for designating mutations (1993) (320)
P-selectin/ICAM-1 double mutant mice: acute emigration of neutrophils into the peritoneum is completely absent but is normal into pulmonary alveoli. (1995) (314)
Alpha7 nicotinic receptor subunits are not necessary for hippocampal-dependent learning or sensorimotor gating: a behavioral characterization of Acra7-deficient mice. (1998) (309)
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management (2017) (303)
Neutrophil Emigration in the Skin, Lungs, and Peritoneum: Different Requirements for CD11/CD18 Revealed by CD18-deficient Mice (1997) (302)
Transit time of leukocytes rolling through venules controls cytokine-induced inflammatory cell recruitment in vivo. (1998) (302)
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia (2017) (301)
Deficiency of inflammatory cell adhesion molecules protects against atherosclerosis in mice. (1997) (298)
Megacystis, mydriasis, and ion channel defect in mice lacking the alpha3 neuronal nicotinic acetylcholine receptor. (1999) (296)
Towards a therapy for Angelman syndrome by reduction of a long non-coding RNA (2014) (291)
High doses of a helper-dependent adenoviral vector yield supraphysiological levels of alpha1-antitrypsin with negligible toxicity. (1998) (267)
Multiorgan Autonomic Dysfunction in Mice Lacking the β2 and the β4 Subunits of Neuronal Nicotinic Acetylcholine Receptors (1999) (260)
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males (2006) (259)
Gene targeting yields a CD18-mutant mouse for study of inflammation. (1993) (259)
Derangements of Hippocampal Calcium/Calmodulin-Dependent Protein Kinase II in a Mouse Model for Angelman Mental Retardation Syndrome (2003) (259)
Acute toxicity after high-dose systemic injection of helper-dependent adenoviral vectors into nonhuman primates. (2004) (256)
Development and validation of a CGH microarray for clinical cytogenetic diagnosis (2005) (256)
Truncating mutations of MAGEL2cause Prader-Willi phenotypes and autism (2013) (248)
Detection of clinically relevant exonic copy‐number changes by array CGH (2010) (242)
8-Azaguanine resistance in mammalian cells. I. Hypoxanthine-guanine phosphoribosyltransferase. (1972) (238)
Role of the intercellular adhesion molecule-1(ICAM-1) in endotoxin-induced pneumonia evaluated using ICAM-1 antisense oligonucleotides, anti-ICAM-1 monoclonal antibodies, and ICAM-1 mutant mice. (1996) (233)
Genome-Wide Detection of Single-Nucleotide and Copy-Number Variations of a Single Human Cell (2012) (228)
Mice deficient in the alpha7 neuronal nicotinic acetylcholine receptor lack alpha-bungarotoxin binding sites and hippocampal fast nicotinic currents. (1997) (228)
Immotile Sperm and Infertility in Mice Lacking Mitochondrial Voltage-dependent Anion Channel Type 3* (2001) (226)
Control of leukocyte rolling velocity in TNF-alpha-induced inflammation by LFA-1 and Mac-1. (2002) (224)
Increased LIS1 expression affects human and mouse brain development (2009) (219)
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders (2009) (216)
Clinical Implementation of Chromosomal Microarray Analysis: Summary of 2513 Postnatal Cases (2007) (216)
Absence of trauma-induced leukocyte rolling in mice deficient in both P- selectin and intercellular adhesion molecule 1 (1996) (207)
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region (2007) (203)
Genetics of Angelman syndrome. (1999) (200)
Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases (2009) (200)
Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis. (1990) (199)
Disease Model Discovery from 3,328 Gene Knockouts by The International Mouse Phenotyping Consortium (2017) (190)
Selectins and neutrophil traffic: margination and Streptococcus pneumoniae-induced emigration in murine lungs (1996) (187)
Immune responses to reporter proteins and high viral dose limit duration of expression with adenoviral vectors: comparison of E2a wild type and E2a deleted vectors. (1997) (183)
A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes (2009) (182)
The Nicotinic Acetylcholine Receptor Subunit α5 Mediates Short-Term Effects of Nicotine in Vivo (2003) (181)
Lessons learned from additional research analyses of unsolved clinical exome cases (2017) (179)
Prevalence of sexual dimorphism in mammalian phenotypic traits (2017) (177)
Molecular Diagnostic Experience of Whole-Exome Sequencing in Adult Patients (2015) (176)
Adherence of neutrophils to canine cardiac myocytes in vitro is dependent on intercellular adhesion molecule-1. (1991) (174)
Use of a liver-specific promoter reduces immune response to the transgene in adenoviral vectors. (1999) (173)
Lethal toxicity, severe endothelial injury, and a threshold effect with high doses of an adenoviral vector in baboons. (2002) (171)
Microarray‐based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics (2007) (171)
Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization (2006) (169)
The role of P-selectin and ICAM-1 in acute lung injury as determined using blocking antibodies and mutant mice. (1996) (169)
Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome. (1999) (168)
Molecular cloning and analysis of in vivo expression of murine P-selectin. (1992) (165)
Genomic Imbalances in Neonates With Birth Defects: High Detection Rates by Using Chromosomal Microarray Analysis (2008) (163)
Genetic testing for cystic fibrosis. (1992) (162)
Novel isoforms of murine intercellular adhesion molecule-1 generated by alternative RNA splicing. (1995) (162)
Aneuploidy as a mechanism for stress-induced liver adaptation. (2012) (162)
The spectrum of mutations in UBE3A causing Angelman syndrome. (1999) (160)
Type Ib glycogen storage disease is caused by a defect in the glucose-6-phosphate translocase of the microsomal glucose-6-phosphatase system. (1980) (156)
Altered Ultrasonic Vocalization and Impaired Learning and Memory in Angelman Syndrome Mouse Model with a Large Maternal Deletion from Ube3a to Gabrb3 (2010) (155)
Copy number and SNP arrays in clinical diagnostics. (2011) (155)
A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A (2004) (154)
Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism (2015) (153)
Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a. (2012) (148)
Linkage of cystic fibrosis to two tightly linked DNA markers: joint report from a collaborative study. (1986) (148)
Neutropenia and impaired neutrophil migration in type IB glycogen storage disease. (1980) (147)
Reanalysis of Clinical Exome Sequencing Data. (2019) (145)
Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions. (2003) (144)
Inhibition of delayed-type contact hypersensitivity in mice deficient in both E-selectin and P-selectin. (1996) (143)
The roles of CD11/CD18 and ICAM-1 in acute Pseudomonas aeruginosa-induced pneumonia in mice. (1996) (142)
Polymorphisms and linkage analysis for ICAM-1 and the selectin gene cluster. (1994) (142)
Lifelong elimination of hyperbilirubinemia in the Gunn rat with a single injection of helper-dependent adenoviral vector. (2005) (139)
Mac-1, but Not LFA-1, Uses Intercellular Adhesion Molecule-1 to Mediate Slow Leukocyte Rolling in TNF-α-Induced Inflammation 1 (2003) (138)
Involvement of the α3 Subunit in Central Nicotinic Binding Populations (2002) (136)
A Genome-wide Association Study of Autism Using the Simons Simplex Collection: Does Reducing Phenotypic Heterogeneity in Autism Increase Genetic Homogeneity? (2015) (134)
Mice Homozygous for the L250T Mutation in the α7 Nicotinic Acetylcholine Receptor Show Increased Neuronal Apoptosis and Die Within 1 Day of Birth (2000) (134)
Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA (2019) (134)
Long-Term Stable Correction of Low-Density Lipoprotein Receptor–Deficient Mice With a Helper-Dependent Adenoviral Vector Expressing the Very Low-Density Lipoprotein Receptor (2001) (134)
Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? (2010) (133)
Array-based DNA diagnostics: let the revolution begin. (2008) (132)
Intercellular adhesion molecule 1 gene associations with immunologic subsets of inflammatory bowel disease. (1995) (132)
Imprinting in Angelman and Prader-Willi syndromes. (1998) (131)
The Association between α4-Integrin, P-Selectin, and E-Selectin in an Allergic Model of Inflammation (1997) (131)
Gene transfer of CFTR to airway epithelia: low levels of expression are sufficient to correct Cl- transport and overexpression can generate basolateral CFTR. (2005) (130)
Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: A study of 5,380 cases (2008) (130)
Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency. (1986) (129)
Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E). (1994) (127)
Long-Term Stable Expression of Human Apolipoprotein A-I Mediated by Helper-Dependent Adenovirus Gene Transfer Inhibits Atherosclerosis Progression and Remodels Atherosclerotic Plaques in a Mouse Model of Familial Hypercholesterolemia (2003) (126)
A severe phenotype in mice with a duplication of exon 3 in the cystic fibrosis locus. (1993) (126)
22q13.3 deletion syndrome: Clinical and molecular analysis using array CGH (2010) (124)
Spinocerebellar ataxia: Variable age of onset and linkage to human leukocyte antigen in a large kindred (1988) (123)
Truncation of Ube3a-ATS Unsilences Paternal Ube3a and Ameliorates Behavioral Defects in the Angelman Syndrome Mouse Model (2013) (122)
NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits (2013) (122)
Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature (2012) (120)
The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region. (1997) (120)
Mammalian urea cycle enzymes. (1986) (118)
Mutations affecting the structure of hypoxanthine: guanine phosphoribosyltransferase in cultured Chinese hamster cells. (1973) (117)
Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing (2013) (117)
Toxicological comparison of E2a-deleted and first-generation adenoviral vectors expressing alpha1-antitrypsin after systemic delivery. (1998) (116)
The nicotinic acetylcholine receptor subunit alpha 5 mediates short-term effects of nicotine in vivo. (2003) (115)
PEGylated helper-dependent adenoviral vectors: highly efficient vectors with an enhanced safety profile (2005) (114)
A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism (2012) (114)
A Neurodevelopmental Survey of Angelman Syndrome With Genotype-Phenotype Correlations (2010) (113)
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE. (2011) (113)
Multiorgan autonomic dysfunction in mice lacking the beta2 and the beta4 subunits of neuronal nicotinic acetylcholine receptors. (1999) (112)
Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (2014) (108)
Epigenetics and Human Disease. (2016) (108)
The SNRPN promoter is not required for genomic imprinting of the Prader-Willi/Angelman domain in mice (2001) (105)
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction (2017) (104)
Dach1 Mutant Mice Bear No Gross Abnormalities in Eye, Limb, and Brain Development and Exhibit Postnatal Lethality (2001) (103)
Absence of P-Selectin, but Not Intercellular Adhesion Molecule-1, Attenuates Neointimal Growth After Arterial Injury in Apolipoprotein E–Deficient Mice (2001) (103)
Development of a complementing cell line and a system for construction of adenovirus vectors with E1 and E2a deleted (1996) (103)
Angelman syndrome: Mutations influence features in early childhood (2011) (103)
Mobilization of stem/progenitor cells by sulfated polysaccharides does not require selectin presence. (2000) (102)
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort (2016) (102)
Hydrolysis of fMet-tRNA by peptidyl transferase. (1971) (101)
Intercellular adhesion molecule-1 deficiency protects MRL/MpJ-Fas(lpr) mice from early lethality. (1997) (101)
Deficiency of Rbbp1/Arid4a and Rbbp1l1/Arid4b alters epigenetic modifications and suppresses an imprinting defect in the PWS/AS domain. (2006) (100)
A polygenic mouse model of psoriasiform skin disease in CD18-deficient mice. (1996) (99)
Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions. (2019) (99)
Autism: highly heritable but not inherited (2007) (99)
Central Role of Fibroblast α3 Nicotinic Acetylcholine Receptor in Mediating Cutaneous Effects of Nicotine (2003) (98)
A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene. (1993) (97)
PRENATAL DIAGNOSIS OF CYSTIC FIBROSIS BY DNA AMPLIFICATION FOR DETECTION OF KM-19 POLYMORPHISM (1988) (97)
Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses (2008) (96)
Molecular definition of bovine argininosuccinate synthetase deficiency. (1989) (94)
11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity (2011) (94)
Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array‐comparative genomic hybridization (2008) (93)
Genetic Ablation of the Steroid Receptor Coactivator-Ubiquitin Ligase, E6-AP, Results in Tissue-Selective Steroid Hormone Resistance and Defects in Reproduction (2002) (93)
RNA codons and protein synthesis. 15. Dissimilar responses of mammalian and bacterial transfer RNA fractions to messenger RNA codons. (1968) (93)
Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome. (1996) (93)
Necdin-deficient mice do not show lethality or the obesity and infertility of Prader-Willi syndrome (1999) (92)
Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations (2005) (91)
Cloning of cDNA for argininosuccinate synthetase mRNA and study of enzyme overproduction in a human cell line. (1981) (90)
Human disorders of ubiquitination and proteasomal degradation. (2004) (90)
Toxicity Associated with Repeated Administration of First-Generation Adenovirus Vectors Does Not Occur with a Helper-Dependent Vector (2000) (90)
The American Society of Human Genetics statement on cystic fibrosis screening. (1990) (88)
Microarray analysis for constitutional cytogenetic abnormalities (2007) (87)
Epigenetic profiling at mouse imprinted gene clusters reveals novel epigenetic and genetic features at differentially methylated regions. (2009) (86)
Variation in the phenotypic expression of β-glucuronidase deficiency (1975) (86)
Linkage disequilibrium, cystic fibrosis, and genetic counseling. (1989) (85)
A search for the primary abnormality in adult-onset type II citrullinemia. (1993) (85)
Efficient, long-term hepatic gene transfer using clinically relevant HDAd doses by balloon occlusion catheter delivery in nonhuman primates. (2009) (85)
Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia. (1990) (84)
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. (2016) (83)
Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype–phenotype correlations (2007) (83)
The utility of chromosomal microarray analysis in developmental and behavioral pediatrics. (2013) (83)
Unique and atypical deletions in Prader–Willi syndrome reveal distinct phenotypes (2011) (82)
Cognitive and adaptive behavior profiles of children with Angelman syndrome (2004) (82)
Infectious and bleeding complications in patients with glycogenosis Ib. (1985) (82)
Cholesterol ester storage disease: clinical, biochemical, and pathological studies. (1977) (81)
Mice lacking neuronal nicotinic acetylcholine receptor β4-subunit and mice lacking both α5- and β4-subunits are highly resistant to nicotine-induced seizures (2004) (81)
Pseudo-hydrodynamic delivery of helper-dependent adenoviral vectors into non-human primates for liver-directed gene therapy. (2007) (81)
Severe inflammatory defect and reduced viability in CD18 and E-selectin double-mutant mice. (2000) (79)
Improved hepatic transduction, reduced systemic vector dissemination, and long-term transgene expression by delivering helper-dependent adenoviral vectors into the surgically isolated liver of nonhuman primates. (2006) (79)
Intercellular Adhesion Molecule-1 Expression Is Required on Multiple Cell Types for the Development of Experimental Autoimmune Encephalomyelitis1 (2007) (78)
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. (2014) (78)
Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders (2004) (78)
Requirement of E6AP and the features of human papillomavirus E6 necessary to support degradation of p53. (2003) (78)
Sustained phenotypic correction of canine hemophilia B after systemic administration of helper-dependent adenoviral vector. (2005) (77)
Receptor-Mediated Tobacco Toxicity: Regulation of Gene Expression through α3β2 Nicotinic Receptor in Oral Epithelial Cells (2005) (77)
Host defense against systemic infection with Streptococcus pneumoniae is impaired in E-, P-, and E-/P-selectin-deficient mice. (1997) (74)
Identification of Chromatin Remodeling Genes Arid4a and Arid4b as Leukemia Suppressor Genes (2008) (74)
Leukocyte migration in adipose tissue of mice null for ICAM-1 and Mac-1 adhesion receptors. (2004) (73)
Involvement of the alpha3 subunit in central nicotinic binding populations. (2002) (72)
Transgene expression up to 7 years in nonhuman primates following hepatic transduction with helper-dependent adenoviral vectors. (2013) (72)
A rheostat model for a rapid and reversible form of imprinting-dependent evolution. (2002) (72)
Reduced inflammation and improved airway expression using helper-dependent adenoviral vectors with a K18 promoter. (2003) (72)
Carrier screening for cystic fibrosis. (1990) (71)
Increased hepatic transduction with reduced systemic dissemination and proinflammatory cytokines following hydrodynamic injection of helper-dependent adenoviral vectors. (2005) (71)
Mammalian peptide chain termination. II. Codon specificity and GTPase activity of release factor. (1971) (71)
POGZ truncating alleles cause syndromic intellectual disability (2016) (70)
Reduced susceptibility to collagen-induced arthritis in mice deficient in intercellular adhesion molecule-1. (1996) (69)
Synergistic control of keratinocyte adhesion through muscarinic and nicotinic acetylcholine receptor subtypes. (2004) (69)
Benign missense variations in the cystic fibrosis gene. (1990) (68)
Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb. (1998) (67)
The human argininosuccinate synthetase locus and citrullinemia. (1986) (66)
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes (2019) (66)
Increase in globin chains and globin mRNA in erythroleukemia cells in response to hemin. (1977) (65)
Rapid prenatal diagnosis using uncultured amniocytes and oligonucleotide array CGH (2008) (65)
High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy (2011) (65)
Long-term correction of ornithine transcarbamylase deficiency by WPRE-mediated overexpression using a helper-dependent adenovirus. (2004) (65)
Evidence for feasibility of fetal trophoblastic cell‐based noninvasive prenatal testing† (2016) (64)
Altered baroreflex responses in α7 deficient mice (2000) (64)
Neurocognitive findings in Prader-Willi syndrome and early-onset morbid obesity. (2006) (63)
Structural organization and chromosomal assignment of the parvalbumin gene. (1987) (63)
Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles (2013) (62)
X-linked glycerol kinase deficiency in the mouse leads to growth retardation, altered fat metabolism, autonomous glucocorticoid secretion and neonatal death. (1997) (61)
Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today’s genomic array era? (2012) (61)
Human chromosomal assignments for 14 argininosuccinate synthetase pseudogenes: cloned DNAs as reagents for cytogenetic analysis. (1984) (61)
The Perlman familial nephroblastomatosis syndrome. (1986) (60)
Arginase deficiency in multiple tissues in argininemia (1978) (60)
Modest Impact on Risk for Autism Spectrum Disorder of Rare Copy Number Variants at 15q11.2, Specifically Breakpoints 1 to 2 (2014) (60)
Genome‐wide copy number analysis on DNA from fetal cells isolated from the blood of pregnant women (2016) (60)
A robotics‐assisted procedure for large scale cystic fibrosis mutation analysis (1994) (59)
Comparative genomic hybridization and prenatal diagnosis (2006) (58)
Identification of genetic elements in metabolism by high-throughput mouse phenotyping (2018) (58)
The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing (2017) (58)
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. (2015) (58)
Acceleration and increased severity of collagen-induced arthritis in P-selectin mutant mice. (1999) (56)
Experience with new DNA markers for the diagnosis of cystic fibrosis. (1988) (56)
Acid lipase in cultured fibroblasts: cholesterol ester storage disease. (1974) (56)
The MTHFR 677C→T polymorphism and behaviors in children with autism: exploratory genotype–phenotype correlations (2009) (56)
The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications (2017) (56)
Requirement of Nicotinic Acetylcholine Receptor Subunit β2 in the Maintenance of Spiral Ganglion Neurons during Aging (2005) (55)
Molecular structure of the human argininosuccinate synthetase gene: occurrence of alternative mRNA splicing (1984) (55)
Cellular and molecular basis of cystic fibrosis. (1988) (55)
Genetics and biochemistry of variant human phenotypes (1989) (54)
Genotyping errors with the polymerase chain reaction. (1990) (54)
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. (2017) (54)
De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. (2014) (53)
Adult-onset combined methylmalonic aciduria and homocystinuria (cblC) (2001) (53)
Molecular structures of human argininosuccinate synthetase pseudogenes. Evolutionary and mechanistic implications. (1984) (53)
Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities (2012) (53)
In vivo urea cycle flux distinguishes and correlates with phenotypic severity in disorders of the urea cycle. (2000) (53)
ARID4A and ARID4B regulate male fertility, a functional link to the AR and RB pathways (2013) (53)
Severe phenotype in mice with termination mutation in exon 2 of cystic fibrosis gene (1995) (52)
Hepatocyte gene therapy in a large animal: a neonatal bovine model of citrullinemia. (1999) (52)
A clefting syndrome with ocular anterior chamber defect and lid anomalies. (1978) (52)
Peptide chain termination with mammalian release factor. (1970) (51)
DNA amplification for detection of the XV-2c polymorphism linked to cystic fibrosis. (1989) (51)
Sequence for human argininosuccinate synthetase cDNA. (1983) (51)
Increased translatable messenger ribonucleic acid for argininosuccinate synthetase in canavanine-resistant human cells. (1981) (51)
Aerosol Delivery of a β-Galactosidase Adenoviral Vector to the Lungs of Rodents (1995) (51)
Making Genomic Medicine a Reality (1999) (50)
Using fetal cells for prenatal diagnosis: History and recent progress (2016) (50)
Differential requirement for CD18 in T-helper effector homing (2003) (50)
Helper-dependent adenoviral vector-mediated long-term expression of human apolipoprotein A-I reduces atherosclerosis in apo E-deficient mice. (2004) (50)
Generation of a mouse model for citrullinemia by targeted disruption of the argininosuccinate synthetase gene (1994) (49)
Identification of novel candidate disease genes from de novo exonic copy number variants (2017) (48)
Dispersion of argininosuccinate synthetase-like human genes to multiple autosomes and the X chromosome (1982) (48)
A resource of targeted mutant mouse lines for 5,061 genes (2019) (48)
Assignment of autosomal dominant spinocerebellar ataxia (SCA1) centromeric to the HLA region on the short arm of chromosome 6, using multilocus linkage analysis. (1989) (48)
Dermal and pulmonary inflammatory disease in E-selectin and P-selectin double-null mice is reduced in triple-selectin-null mice. (2001) (48)
Comparative analysis of single-stranded DNA donors to generate conditional null mouse alleles (2018) (47)
Prenatal diagnosis of recurrence of Saldino-Noonan dwarfism. (1977) (46)
Nucleotide sequence of the cDNA encoding the rat argininosuccinate synthetase. (1988) (46)
An initiation codon mutation in CD18 in association with the moderate phenotype of leukocyte adhesion deficiency. (1992) (46)
Generation of helper-dependent adenoviral vectors by homologous recombination. (2002) (46)
Recombinations between IRP and cystic fibrosis. (1988) (46)
Human and mouse essentiality screens as a resource for disease gene discovery (2019) (45)
Extensive DNA polymorphism at the factor XIIIa (F13A) locus and linkage to HLA. (1988) (45)
Molecular cloning and sequence analysis of the murine cDNA for the cystic fibrosis transmembrane conductance regulator. (1991) (44)
The complex behavioral phenotype of 15q13.3 microdeletion syndrome (2016) (44)
Simultaneous, multilocus FISH analysis for detection of microdeletions in the diagnostic evaluation of developmental delay and mental retardation. (1997) (43)
Array‐based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements (2005) (43)
Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders (2012) (43)
Current controversies in prenatal diagnosis 3: for prenatal diagnosis, should we offer less or more than metaphase karyotyping? (2009) (43)
Metabolism of sphingomyelin by intact cultured fibroblasts: differentiation of Niemann-Pick disease type A and B. (1982) (43)
LINKAGE OF TUBEROUS SCLEROSIS TO ABO BLOOD GROUP (1987) (42)
A new vector system with inducible E2a cell line for production of higher titer and safer adenoviral vectors. (2000) (42)
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases (2019) (42)
Incidental copy-number variants identified by routine genome testing in a clinical population (2012) (42)
Which way for genetic-test regulation? Leave test interpretation to specialists (2010) (41)
TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. (2013) (41)
Mice lacking neuronal nicotinic acetylcholine receptor beta4-subunit and mice lacking both alpha5- and beta4-subunits are highly resistant to nicotine-induced seizures. (2004) (40)
Postmortem observations on β‐glucuronidase deficiency presenting as hydrops fetalis (1983) (40)
Nucleotide sequence of the cDNA from the mouse leukocyte adhesion protein CD18. (1989) (40)
A therapeutic trial of pro‐methylation dietary supplements in Angelman syndrome (2011) (40)
Chromosomal microarray versus karyotyping for prenatal diagnosis (2013) (39)
Reliable detection of subchromosomal deletions and duplications using cell‐based noninvasive prenatal testing (2018) (39)
Combinatorial requirements for adhesion molecules in mediating neutrophil emigration during bacterial peritonitis in mice (1998) (39)
Mammalian release factor; in vitro assay and purification. (1974) (39)
Creatine metabolism in combined methylmalonic aciduria and homocystinuria (2005) (38)
Three-dimensional microCT imaging of mouse development from early post-implantation to early postnatal stages (2016) (38)
Somatic gene therapy for cystic fibrosis. (1994) (38)
Molecular analysis of argininosuccinate synthetase deficiency in human fibroblasts. (1982) (38)
Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis (2019) (37)
Mapping of multiple subunits of the neuronal nicotinic acetylcholine receptor to chromosome 15 in man and chromosome 9 in mouse. (1991) (37)
Gene-targeting pharmaceuticals for single-gene disorders. (2016) (37)
Double‐blind therapeutic trial in Angelman syndrome using betaine and folic acid (2010) (37)
Balloon catheter delivery of helper-dependent adenoviral vector results in sustained, therapeutic hFIX expression in rhesus macaques. (2012) (37)
New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency. (1986) (37)
Influence of guanine nucleotides and elongation factors on interaction of release factors with the ribosome. (1973) (36)
Nucleotide sequence of the cDNA for murine intercellular adhesion molecule-1 (ICAM-1). (1989) (36)
Characterization of the murine Icam-1 gene. (1992) (35)
Receptor-mediated tobacco toxicity: regulation of gene expression through alpha3beta2 nicotinic receptor in oral epithelial cells. (2005) (35)
Release Factor Translation of RNA Phage Terminator Codons (1970) (34)
Mouse imprinting defect mutations that model Angelman syndrome (2006) (34)
Use of denaturing HPLC to provide efficient detection of mutations causing familial hypercholesterolemia. (2002) (34)
Multilocus linkage analysis with the human argininosuccinate synthetase gene. (1989) (33)
Metabolite regulation of argininosuccinate synthetase in cultured human cells. (1988) (33)
Molecular Epidemiological Analysis of the Changing Nature of a Meningococcal Outbreak following a Vaccination Campaign (2002) (32)
Brain carnitine deficiency causes nonsyndromic autism with an extreme male bias: A hypothesis (2017) (31)
Cloning and mapping of the mouse a7-neuronal nicotinic acetylcholine receptor (1995) (30)
Identification of genes required for eye development by high-throughput screening of mouse knockouts (2018) (30)
Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation (2015) (29)
Molecular characterization of the murine argininosuccinate synthetase locus. (1991) (29)
Additional mutations in argininosuccinate synthetase causing citrullinemia. (1991) (29)
Abnormal mRNA for argininosuccinate synthetase in citrullinaemia (1983) (29)
A Cre-expressing cell line and an E1/E2a double-deleted virus for preparation of helper-dependent adenovirus vector. (2001) (28)
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels (2020) (28)
Detection of ≥1 Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays (2012) (27)
E-selectin ligand-1 regulates growth plate homeostasis in mice by inhibiting the intracellular processing and secretion of mature TGF-beta. (2010) (27)
Homozygous nonsense mutation causing cystic fibrosis with uniparental disomy. (1991) (27)
Residual altered α-mannosidase in human mannosidosis (1976) (27)
Hyperargininemia: a treatable inborn error of metabolism? (1997) (25)
ACTG2-Related Disorders (2015) (25)
Linkage mapping and fluorescence in situ hybridization of TCTE1 on human chromosome 6p: analysis of dinucleotide polymorphisms on native gels. (1991) (25)
Is medical genetics neglecting epigenetics? (2002) (25)
Chronic inflammatory disease alters adhesion molecule requirements for acute neutrophil emigration in mouse skin. (1999) (25)
Characterization of the human β4 nAChR gene and polymorphisms in CHRNA3 and CHRNB4 (2001) (25)
The Deep Genome Project (2020) (25)
Cerebral edema in maple syrup urine disease. (1993) (25)
Prenatal diagnosis of cystic fibrosis. (1987) (25)
Assignment of the gene for intercellular adhesion molecule-1 (Icam-1) to proximal mouse chromosome 9. (1991) (24)
Preventable Forms of Autism? (2012) (23)
Universal Prenatal Chromosomal Microarray Analysis: Additive Value and Clinical Dilemmas in Fetuses with a Normal Karyotype (2016) (23)
Arginase deficiency presenting as cerebral palsy. (1993) (23)
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency as detected by radiochemical assay in cell extracts by thin-layer chromatography, and identification of three new cases. (1990) (23)
Ethical issues raised by common copy number variants and single nucleotide polymorphisms of certain and uncertain significance in general medical practice (2010) (23)
Ube 3 a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube 3 a (2012) (23)
Fusion of Large-Scale Genomic Knowledge and Frequency Data Computationally Prioritizes Variants in Epilepsy (2013) (23)
Evidence for translational regulation of the imprinted Snurf-Snrpn locus in mice. (2002) (22)
Functional polymorphisms in the human β4 subunit of nicotinic acetylcholine receptors (2005) (22)
Prenatal diagnosis and heterozygote detection by DNA analysis in ornithine transcarbamylase deficiency. (1989) (22)
1998 ASHG presidential address. Making genomic medicine a reality. (1999) (22)
Variation in the phenotypic expression of beta-glucuronidase deficiency. (1975) (21)
An E. coli β-galactosidase cassette suitable for study of eukaryotic expression (1986) (21)
Denaturing high-performance liquid chromatography for the detection of mutations and polymorphisms in UBE3A. (2003) (21)
Comparison of three whole genome amplification methods for detection of genomic aberrations in single cells (2016) (21)
Detection of Fabry's disease heterozygotes by hair root analysis (1978) (21)
Pulmonary hypertension in an 18-year-old girl with cholesteryl ester storage disease (CESD) (1986) (21)
Acidic phospholipases in cultured human fibroblasts: deficiency of phospholipase C in Niemann-Pick disease. (1980) (21)
Helper-dependent adenoviral vectors. (2002) (21)
Altered baroreflex responses in alpha7 deficient mice. (2000) (20)
Exome sequencing of 457 autism families recruited online provides evidence for novel ASD genes (2019) (20)
Correction of hyperbilirubinemia in gunn rats using clinically relevant low doses of helper-dependent adenoviral vectors. (2011) (20)
Mutation analysis in cystic fibrosis. (1990) (20)
Additional polymorphism for D7S8 linked to cystic fibrosis including detection by DNA amplification. (1989) (20)
Apurinic DNA endonuclease activities in repair-deficient human cell lines. (1978) (19)
Atypical presentation and neuropathological studies in 3‐hydroxy‐3‐methylglutaryl–CoA lyase deficiency (1986) (19)
Sequencing and functional analysis of the SNRPN promoter: in vitro methylation abolishes promoter activity. (1997) (19)
Prenatal detection of 46,XY,rec(5),dup q, inv(5)(p13q33) using DNA analysis, flow cytometry, and in situ hybridization to supplement classical cytogenetic analysis. (1988) (19)
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy (2019) (19)
Molecular findings among patients referred for clinical whole-exome sequencing: Editorial comment (2015) (18)
Prenatal diagnosis of citrullinaemia: Review of a 10‐year experience including recent use of DNA analysis (1990) (18)
Methods for analysis of multiple cystic fibrosis mutations (1991) (18)
Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region (2008) (18)
Cloning and mapping of the mouse alpha 7-neuronal nicotinic acetylcholine receptor. (1995) (18)
Centers for Mendelian Genomics: A decade of facilitating gene discovery (2021) (18)
Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data (2017) (18)
Simultaneous analysis of mutant and normal alleles for multiple cystic fibrosis mutations by the ligase chain reaction (1995) (17)
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. (2019) (17)
8-AZAGUANINE RESISTANCE IN MAMMALIAN CELLS (2003) (16)
Production of helper‐dependent adenovirus vector relies on helper virus structure and complementing (2002) (16)
Pulmonary vascular obstruction associated with cholesteryl ester storage disease. (1979) (16)
Disruption of the genomic imprint in trans with homologous recombination at Snrpn in ES cells (2003) (16)
Deletion and linkage mapping of eight markers from the proximal short arm of chromosome 6. (1990) (16)
The NIH Roadmap Epigenomics Mapping (2010) (15)
Linkage of DNA markers to cystic fibrosis in 26 families. (1986) (15)
Multiple Advantages of α-Fetoprotein as a Marker for in Vivo Gene Transfer (2000) (15)
Hyperorgininemia: a treatable inborn error of metabolism (1997) (15)
An Unexpected Function of the Prader-Willi Syndrome Imprinting Center in Maternal Imprinting in Mice (2012) (15)
Reaching a CNV milestone (2014) (14)
Repair response of human fibroblasts to bleomycin damage. (1983) (14)
Microarray-based comparative genomic hybridization using sex-matched reference DNA provides greater sensitivity for detection of sex chromosome imbalances than array-comparative genomic hybridization with sex-mismatched reference DNA. (2009) (14)
Angelman syndrome: Drugs to awaken a paternal gene (2011) (14)
Duplication of OCRL and adjacent genes associated with autism but not Lowe syndrome (2012) (14)
Prenatal diagnosis of cystic fibrosis: microvillar enzymes and DNA analysis compared. (1988) (14)
Experience of an academic reference laboratory using automation for analysis of cystic fibrosis mutations. (1994) (13)
Apolipoprotein C-III-1 activates lysosomal sphingomyelinase in vitro. (1981) (13)
Prenatal diagnosis and carrier detection for a point mutation in UBE3A causing Angelman syndrome. (1998) (13)
Arginine-mediated regulation of an argininosuccinate synthetase minigene in normal and canavanine-resistant human cells. (1986) (13)
Retroviral mediated expression of CD18 in normal and deficient human bone marrow progenitor cells. (1993) (13)
Evaluation of gene therapy for citrullinaemia using murine and bovine models (1998) (13)
Hemorrhagic pancreatitis in a patient with glycogen storage disease type I (1980) (13)
Side Effects and Behavioral Outcomes Following High-Dose Carnitine Supplementation Among Young Males With Autism Spectrum Disorder: A Pilot Study (2019) (12)
Phenylalanine hydroxylase expression in liver of a fetus with phenylketonuria. (1988) (12)
Detection of imprinting mutations in Angelman syndrome using a probe for exon alpha of SNRPN. (1996) (12)
Analysis of deletions at the human argininosuccinate synthetase locus. (1989) (12)
Retrovirus-mediated gene transfer of argininosuccinate synthetase into cultured rodent cells and human citrullinemic fibroblasts. (1986) (12)
Prenatal diagnosis of cystic fibrosis by using linked DNA markers in 138 pregnancies at 1-in-4 risk. (1989) (11)
Expression of human CD18 in murine granulocytes and improved efficiency for infection of deficient human lymphoblasts. (1993) (11)
Effects of eight neuropsychiatric copy number variants on human brain structure (2021) (11)
Rapid and Integrative Discovery of Retina Regulatory Molecules. (2018) (11)
Stimulation of protein synthesis by hemin in extracts of Friend erythroleukemia cells. (1978) (11)
A method for analyzing transcription using permeabilized cells. (1984) (10)
Aerosol delivery of a beta-galactosidase adenoviral vector to the lungs of rodents. (1995) (10)
Expression of human argininosuccinate synthetase after retroviral-mediated gene transfer (1986) (10)
Human lysosomal sphingomyelinase: substrate efficacy of apolipoprotein/sphingomyelin complexes. (1986) (10)
Cholesteryl Lignocerate Hydrolysis in Adrenoleukodystrophy (1980) (10)
Glycogen storage disease: long‐term follow‐up of nocturnal intragastric feeding (1982) (10)
Long-term expression of human argininosuccinate synthetase in mice following bone marrow transplantation with retrovirus-transduced hematopoietic stem cells. (1992) (9)
New models for human disease from the International Mouse Phenotyping Consortium (2019) (9)
Global genetic carrier testing: a vision for the future (2015) (9)
Beliefs in vaccine as causes of autism among SPARK cohort caregivers. (2020) (9)
A study of restriction fragment length polymorphisms at the human alpha-1-antitrypsin locus (1985) (9)
Epigenetics and complex human disease: is there a role in IBD? (2008) (9)
Phenotypic association of 15q11.2 CNVs of the region of breakpoints 1–2 (BP1–BP2) in a large cohort of samples referred for genetic diagnosis (2018) (9)
Disease‐specific databases: Why we need them and some recommendations from the Human Variome Project Meeting, May 28, 2011 (2012) (8)
Multiple advantages of alpha-fetoprotein as a marker for in vivo gene transfer. (2000) (8)
Gene targeting for inflammatory cell adhesion molecules. (1995) (8)
Lacticacidosis, neurological deterioration and compromised cellular pyruvate oxidation due to a defect in the reoxidation of cytoplasmically generated NADH (1983) (8)
Advantages of a two-step laboratory approach for cystic fibrosis carrier screening. (1992) (8)
Precision medicine: Look to the mice. (2015) (8)
Preimplantation genetic screens (2015) (8)
Assignment of the structural gene for argininosuccinate synthetase to proximal mouse chromosome 2. (1990) (8)
NEUROGENETICS '99 Genetics of Angelman Syndrome (1999) (8)
815. Aerosol Delivery of Helper-Dependent Adenoviral Vector into Nonhuman Primate Lungs Results in High Efficiency Pulmonary Transduction with Minimal Toxicity (2005) (8)
Repair of Bleomycin-damaged DNA by human fibroblasts. (1981) (8)
Genomic DNA-mediated gene transfer for argininosuccinate synthetase (1984) (7)
Structure of the murine E-selectin ligand 1 (ESL-1) gene and assignment to Chromosome 8 (1999) (7)
Cataract in mannosidosis. (1976) (7)
Allan Award lecture: Rare patients leading to epigenetics and back to genetics. (2008) (6)
Exclusion of close linkage between the loci for cystic fibrosis and neuropeptide Y on human chromosome 7. (1987) (6)
Corrigendum: High-throughput discovery of novel developmental phenotypes (2017) (6)
The effect of maternal body mass index and gestational age on circulating trophoblast yield in cell‐based noninvasive prenatal testing (2020) (6)
Publisher Correction: Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy (2022) (6)
Complex imprinting (2004) (6)
Genetic testing for cystic fibrosis. (1992) (6)
Oxidative Phosphorylation Diseases: Chapter 46. (1995) (6)
Invited Editorial: Carrier Screening for Cystic Fibrosis (2006) (5)
Ornithine transcarbamylase deficiency: long‐term survival (1982) (5)
Chromosomal microarray analysis, or comparative genomic hybridization: A high throughput approach (2015) (5)
Mutation analysis for cystic fibrosis in a North American population. (1991) (5)
Expression of human argininosuccinate synthetase in murine hematopoietic cells in vivo (1989) (5)
Gene transfer and gene therapy (1988) (5)
Stable low molecular weight DNA in xeroderma pigmentosum cells. (1983) (5)
Abstract IA28: Towards a therapy for Angelman syndrome by targeting a long noncoding RNA to active UBE3A (2016) (4)
Beta-glucuronidase deficiency (mucopolysaccharidosis type VII). (1974) (4)
607. Long-Term Phenotypic Correction of Canine Hemophilia B Following Systemic Administration of Helper Dependent Adenoviral Vector (2005) (4)
1012 TRANSIENT HYPERAMMONEMIA IN TERM AND PRETERM INFANTS (1978) (4)
An E. coli beta-galactosidase cassette suitable for study of eukaryotic expression. (1986) (4)
Publisher Correction: Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA (2019) (3)
702 CLONING OF cDNA FOR HUMAN ARGININOSUCCINATE SYNTHETASE (ASS) mRNA AND STUDIES OF ENZYME OVERPRODUCTION (1981) (3)
Some, but not complete, reassurance on the safety of folic acid fortification. (2010) (3)
Corrigendum to “Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation” (2015) (3)
METABOLIC STUDIES IN ARGININEMIA (1977) (3)
Use of amplicon-based sequencing for testing fetal identity and monogenic traits with Single Circulating Trophoblast (SCT) as one form of cell-based NIPT (2021) (3)
Genome-wide screening of mouse knockouts reveals novel genes required for normal integumentary and oculocutaneous structure and function (2019) (3)
Multiple Recurrent De Novo Copy Number Variations , Including Duplications of the 7 q 11 . 23 Williams-Beuren Syndrome Region , Are Associated with Autism (2011) (3)
Human genome meeting 2016 (2016) (3)
Progress toward noninvasive prenatal diagnosis. (2011) (3)
Introduction to Human Biochemical and Molecular Genetics (1990) (3)
A gene fusion method to screen for regulatory effects on gene expression: application to the LDL receptor. (2002) (3)
A Mixed Epigenetic and Genetic and Mixed De Novo and Inherited Model for Autism (2006) (3)
683. Bronchoscope-Guided, Targeted Lobar Aersolization of HDAd into the Lungs of Nonhuman Primate Results in Exceedingly High Pulmonary Transduction Uniformally throughout the Entire Lung with Negligible Toxicity (2006) (3)
Darwin Comes to Clinic. (2017) (3)
Genetic diagnostic studies for mental retardation. (1978) (2)
Residual altered alpha-mannosidase in human mannosidosis. (1976) (2)
Influence ofGuanine Nucleotides andElongation Factors onInteraction ofRelease Factors withtheRibosome (1973) (2)
904. High Efficiency Hepatic Transduction and Long-Term Transgene Expression by Delivering Helper-Dependent Adenoviral Vectors into the Surgically Isolated Liver of Nonhuman Primates (2005) (2)
A human single copy DNA probe (ZB6-1) detects multiple polymorphisms on 6q. (1988) (2)
Employing single-stranded DNA donors for the high-throughput production of conditional knockout alleles in mice (2017) (2)
Erratum to: Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism (2016) (2)
POGZ truncating alleles cause syndromic intellectual disability (2016) (2)
1289 PROSPECTIVE CLINICAL AND CYTOGENETIC STUDY OF DiGEORGE SEQUENCE (1985) (2)
Prenatal diagnosis of cystic fibrosis using linked DNA markers and microvillar intestinal enzyme analysis (1987) (2)
Host defense against systemic infection with S. pneumoniae is impaired in endothelial selectin-deficient mice • 747 (1997) (1)
Evidence for Feasibility of Fetal Trophoblastic Cell-Based Noninvasive Prenatal Testing (2017) (1)
Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy (2022) (1)
Author Correction: Identification of genes required for eye development by high-throughput screening of mouse knockouts (2019) (1)
Letter: Interference of radiopaque dyes with the 2,4-dinitrophenylhydrazine test. (1976) (1)
A polygenic mouse model of psoriasiform skin disease in CD 18-deficient mice ( psoriasis / inflammation ) (2005) (1)
Isolation, mapping, and characterization of two cDNA clones expressed in the cerebellum. (1992) (1)
Angelman syndrome in an inbred family (1996) (1)
Known and Possible Roles of Epigenetics in Autism (2011) (1)
Erratum to: The Human Argininosuccinate Synthetase Locus and Citrullinemia (1986) (1)
Differences in RNA codon recognition as a function of cellular tRNA content (1967) (1)
Lessons learned from additional research analyses of unsolved clinical exome cases (2017) (1)
Duplications in the 17p13.3 Miller-Dieker syndrome region: Increased expression of LIS1 affects human and mouse brain development (2008) (1)
905. Hydrodynamic Injection of Helper-Dependent Adenoviral Vectors Increases Liver Transduction Efficiency and Decreases Acute Inflammatory Response (2005) (1)
163. Phenotypic correction of a hemophilia B dog following systemic administration of a helper-dependent ad vector encoding canine coagulation factor IX (2004) (1)
Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders (2012) (1)
PRENATAL DIAGNOSIS OF CYSTIC FIBROSIS (CF) USING LINKED DNA MARKERS AND MICROVILLAR INTESTINAL ENZYME ANALYSIS (1987) (1)
Antisense oligonucleotide therapy rescues disturbed brain rhythms and sleep in juvenile and adult mouse models of Angelman syndrome (2022) (1)
Erratum: Identifi cation of incestuous parental relationships by SNP-based DNA microarrays (Lancet (2011) 377 (555-556)) (2011) (1)
Molecular definition of bovine argininosuccinate synthetase deficiency ( citrullinemia / animal model / nonsense mutation / polymerase chain reaction ) (1)
Assignment of autosomal dominant spinocerebellar ataxia centromeric to HLA using multilocus linkage analysis (1988) (1)
Dosage and imprinting effects in abnormalities of human chromosome 15 (1996) (1)
906. High Efficiency Hepatic Transduction with Minimal Toxicity Following |[ldquo]|Hydrodynamic|[rdquo]| Injection of HDAd into Nonhuman Primates (2005) (1)
Treatment of OTC deficiency. (1983) (1)
Advantages of RT‐PCR and denaturing gradient gel electrophoresis for analysis of genomic imprinting: Detection of new mouse and human expressed polymorphisms (1996) (1)
601: Rapid prenatal diagnosis of cytogenetic abnormalities by array CGH analysis (2007) (1)
1087. Balloon Occlusion Catheter-Based Delivery of HDAd into the Nonhuman Primate Liver Results in Stable, High Level Transgene Expression with Minimal Toxicity (2006) (1)
Erratum to: The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications (2017) (1)
Role of Mac-1 (CD11b/CD18) in neutrophil functions in vivo (1997) (1)
Imprinted regulation in the region of Prader-Willi and Angelman syndromes (1996) (0)
Absence o f Trauma-induced Leukocyte Rol l ing in Mice Deficient in Both P-Select in and Intercellular Adhes ion Molecule 1 (2003) (0)
Author's response to reviews Title: High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy Authors: (2011) (0)
Acknowledgement to referees 2003 (2004) (0)
789. Hydrodynamic Injection of Helper Dependent Adenoviral Vectors Increases Liver Transduction Efficiency and Decreases Acute Inflammatory Response (2004) (0)
Identification of genetic elements in metabolism by high-throughput mouse phenotyping (2018) (0)
Author Correction: Identification of genes required for eye development by high-throughput screening of mouse knockouts (2019) (0)
542 DIETARY THERAPY OF ORNITHINE TRANSCARBAMYLASE (OTC) DEFICIENCY (1978) (0)
Index of suspicion. (2008) (0)
College News (1924) (0)
Human and mouse essentiality screens as a resource for disease gene discovery (2020) (0)
Comparative analysis of single-stranded DNA donors to generate conditional null mouse alleles (2018) (0)
Compromised emigration of CD18-deficient neutrophils during LPS pneumonia in bone marrow chimera mice (1998) (0)
Severe transient hyperammonemia of the newborn (STHN): evidence for heterogeneity. (1980) (0)
Microarray analysis for constitutional cytogenetic (2007) (0)
The Baylor KOMP2 Program and BaSH Consortium: A Resource for Producing and Phenotyping Knockout Mice (2016) (0)
Magel-cause-Prader-Willi-supplemental (2013) (0)
Correction to: The International Mouse Phenotyping Consortium (IMPC): a functional catalogue of the mammalian genome that informs conservation (2019) (0)
Repair of bleomycin damage in human DNA repair-deficient fibroblasts (1982) (0)
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels (2020) (0)
Cell-Based Noninvasive Prenatal Testing: A Promising Path for Prenatal Diagnosis (2018) (0)
174. High efficiency HDAd-mediated hepatic transduction can be achieved by delivery into the surgically isolated liver of nonhuman primates (2004) (0)
diagnosis of recurrence of Saldino-Noonan (1977) (0)
Integrative and rapid discovery of retinal regulatory molecules (2018) (0)
2016 Curt Stern Award Introduction: Brendan Lee. (2017) (0)
Increased survival of P- and E-/P- selectin deficient mice during e. coli sepsis (1997) (0)
159. Vector genome loss does not account for decline of plasma cFVIII protein in hemophilic dogs that demonstrate long term clinical correction following helper-dependent adenoviral gene therapy (2004) (0)
685: Prenatal detection of genomic imbalances in six days from uncultured amniocytes by targeted oligonucleotide array CGH (2008) (0)
The Role of Exome Sequencing and Other New Genetic Tests in Child and Adolescent Psychiatry (2015) (0)
Identification of genes required for eye development by high-throughput screening of mouse knockouts (2018) (0)
2017 Victor A. McKusick Leadership Award. (2018) (0)
Exon-Targeted Array CGH for Identification of Clinically Relevant Small-Sized, Intragenic CNVs (2016) (0)
GENE TRANSFER INTO PRIMARY HEPATOCYTES FOR SOMATIC GENE THERAPY (1987) (0)
Altered circadian rhythms and sleep in a new Angelman Syndrome mouse model (2021) (0)
Acknowledgment of Reviewers 2013 (2013) (0)
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases (2019) (0)
Adenovirus Mediated Gene Therapy in Citrullinemia: Clinical Correlations of in vivo Nitrogen Flux Measurements in Neontal Bovine Citrullinemia and in Urea Cycle Patients • 723 (1998) (0)
3P-0887 LDL receptor gene therapy protects against atherosclerosis in a mouse model of familial hypercholesterolemia (2003) (0)
PJ-299 LDL Receptor Gene Therapy Inhibits Progression of Atherosclerosis in a Mouse Model of Familial Hypercholesterolemia(Atherosclerosis, Basic 3 (IHD) : PJ50)(Poster Session (Japanese)) (2004) (0)
Acknowledgment of Reviewers 2014 (2014) (0)
Table 2. [Summary of Bladder and Intestinal...]. (2015) (0)
Erratum to: The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications (2017) (0)
Publisher Correction: Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA (2019) (0)
535. Long-Term Correction of Hyperbilirubinemia in a Rat Model of Crigler-Najjar Syndrome Type 1 (2005) (0)
Exome Sequencing: Applications From the Lab Bench to the Clinic. (2013) (0)
C. Thomas Caskey, M.D. (1938-2022): A remembrance. (2022) (0)
Use of amplicon-based sequencing for testing fetal identity and monogenic traits with single circulating trophoblast (SCT) prenatal diagnosis (2020) (0)
Neuromuscular presentation of severe neonatal onset glycogenosis type IV (2008) (0)
The Deep Genome Project (2020) (0)
OC05.07: Pathologic copy number variations (CNVs) in fetuses with a normal karyotype: does the indication for testing matter? (2015) (0)
Towards the cloning of imprinted genes in the Prader-Willi/Angelman region of chromosome 15q11-q13 (1994) (0)
The case for offering all women amniocentesis and chromosomal microarray analysis (2009) (0)
Phenotypic association of 15q11.2 CNVs of the region of breakpoints 1–2 (BP1–BP2) in a large cohort of samples referred for genetic diagnosis (2018) (0)
Increased circulating neutrophil counts in mice deficient in P-selectin and ICAM-1 are not due to increased hematopoiesis (1995) (0)
TRANS-ACTING REGULATION AND ALTERNATIVE RNA SPLICING FOR THE ARGININOSUCCINATE SYNTHETASE (AS) LOCUS (1984) (0)
DNA BLOTTING FOR HAEMOPHILIA B CARRIER DETECTION: PITFALLS IN DOSAGE ANALYSIS (1984) (0)
575: Routine testing for copy number variants (CNVs) by chromosomal microarray analysis in patients with a normal karyotype: a single center's 20 month experience (2012) (0)
Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication (2016) (0)
Erratum: Requirement of nicotinic acetylcholine receptor subunit β2 in the maintenance of spiral ganglion neurons during aging (Journal of Neuroscience (March 23, 2005) (3041-3045)) (2005) (0)
Gene transfer and gene therapy : proceedings of an E.I. du Pont de Nemours-UCLA Symposium, held at Tamarron, Colorado, February 6-12, 1988 (1989) (0)
A pilot validation study for cell‐based noninvasive prenatal testing (NIPT) in 42 cases: 900 (2019) (0)
Sequence for human argdinosuccinate synthetase cDNA (2003) (0)
STRUCTURAL ORGANIZATION OF THE PARVALBUMIN GENE (1987) (0)
QnAs with Arthur Beaudet. (2013) (0)
Mutant Mice Collagen-Induced Arthritis in P-Selectin Acceleration and Increased Severity of Lindsey (1999) (0)
Variants in a Noninstitutionalized Sample Callous-Unemotional Traits and Differently Motivated Aggression: An Examination of (2015) (0)
CHAPTER 3: THE HUMAN ARGININOSUCCINATE SYNTHETASE LOCUS AND CITRULLINEMIA (1986) (0)
Foreword (2020) (0)
Table 1. [Summary of Molecular Genetic Testing Used in ACTG2-Related Disorders]. (2015) (0)
List of reviewers for Prenatal Diagnosis, January 2015–December 2015 (2015) (0)
Molecular genetic studies of cystic fibrosis (1988) (0)
Global genetic carrier testing: a vision for the future (2015) (0)
Oral Abstracts of the ISPD 20th International Conference on Prenatal Diagnosis and Therapy, Berlin, Germany, 10–13 July 2016 (2016) (0)
College News (2002) (0)
Encephalomyelitis Development of Experimental Autoimmune Is Required on Multiple Cell Types for the Intercellular Adhesion Molecule-1 Expression (2006) (0)
Acknowledgment of reviewers 2014 (2015) (0)
Additional file 8: of Identification of novel candidate disease genes from de novo exonic copy number variants (2017) (0)
Identification of novel candidate disease genes from de novo exonic copy number variants (2017) (0)
26: Prenatal array comparative genomic hybridization: when is it indicated and what sample is best? Our experience in over 1000 prenatal cases (2011) (0)
NuCleJC Acids Research Apurinic DNA endonuclease activities in repair-deficient human cell lines (2005) (0)
Isolated hepatic perfusion of helper-dependent adenovirus results in long-term gene expression in the primate model (2005) (0)
Obituary: Laird Jackson (2020) (0)
Neutropenia and impaired neutrophil in type IB glycogen storage disease migration (1980) (0)
Acknowledgment of Reviewers, 2019 (2019) (0)
The neuronal nicotinic acetylcholine receptor {alpha}7 subunit gene: Cloning, mapping, structure, and targeting in mouse (1994) (0)
Correction to: The International Mouse Phenotyping Consortium (IMPC): a functional catalogue of the mammalian genome that informs conservation (2019) (0)
Bibliography of cloned human and other selected DNAs. (1985) (0)
Extensive DNA Polymorphism at the Factor XiIla ( F I 3 A ) Locus and Linkage to HLA (2006) (0)
Chromosomal Microarray Analysis Is Replacing the Karyotype in the Evaluation of Neonates (2007) (0)
Table 3. [Inherited Disorders in the Differential Diagnosis for ACTG2-Related Disorders]. (2015) (0)
708: Oligo-based array CGH on a single cell - the way toward noninvasive prenatal diagnosis of genomic imbalance (2009) (0)
45 – Mammalian Release Factor; in Vitro Assay and Purification 1 (1981) (0)
Analysis of genome-wide knockout mouse database identifies candidate ciliopathy genes (2022) (0)
Reviewer Acknowledgment 2013 (2013) (0)
Neointimal Growth After Arterial Injury in Apolipoprotein E–Deficient Mice (2001) (0)
Erratum (2014) (0)
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction (2017) (0)
213. Improving the Therapeutic Index of Helper-Dependent Adenoviral Vector for Crigler-Najjar Gene Therapy (2006) (0)
504 REGULATION OF GLOBIN CHAIN SYNTHESIS IN NEONATES (1978) (0)
Erratum: (Mammalian Genome (1996) 7:9 (2465-2494)) (1997) (0)
Human genome meeting 2016 (2016) (0)
DNA microarrays: A promising new option for prenatal diagnosis (2007) (0)

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