Darrel Waggoner
#83,371
Most Influential Person Now
American clinical geneticist
Darrel Waggoner's AcademicInfluence.com Rankings
Darrel Waggonerbiology Degrees
Biology
#9020
World Rank
#12175
Historical Rank
#2390
USA Rank
Genetics
#947
World Rank
#1043
Historical Rank
#260
USA Rank
Molecular Biology
#2744
World Rank
#2786
Historical Rank
#315
USA Rank
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Biology
Darrel Waggoner's Degrees
- Bachelors Biology Stanford University
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Why Is Darrel Waggoner Influential?
(Suggest an Edit or Addition)According to Wikipedia, Darrel Waggoner is a professor of human genetics and pediatrics at the Pritzker School of Medicine, and is the director of Human Genetics at University of Chicago. Life and education Darrel Waggoner was born in Nashville, TN. He was the first person in his family to attend college and attended Saint Louis University where he studied chemistry. When he decided to matriculate into Washington University School of Medicine his father "didn't believe him at first".
Darrel Waggoner'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
- Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. (2010) (2348)
- The Role of Copper in Neurodegenerative Disease (1999) (784)
- Copper chaperone for superoxide dismutase is essential to activate mammalian Cu/Zn superoxide dismutase. (2000) (307)
- Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. (2005) (282)
- Synopsis of Guidelines for the Clinical Management of Cerebral Cavernous Malformations: Consensus Recommendations Based on Systematic Literature Review by the Angioma Alliance Scientific Advisory Board Clinical Experts Panel (2017) (278)
- The Copper Chaperone CCS Directly Interacts with Copper/Zinc Superoxide Dismutase* (1998) (230)
- Brain Copper Content and Cuproenzyme Activity Do Not Vary with Prion Protein Expression Level* (2000) (187)
- TBX5 Genetic Testing Validates Strict Clinical Criteria for Holt-Oram Syndrome (2005) (148)
- Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15‐Month Experience (2017) (122)
- Clinic-based study of plexiform neurofibromas in neurofibromatosis 1. (2000) (122)
- Recommendations for the integration of genomics into clinical practice (2016) (115)
- Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13. (2011) (107)
- Sarcomere Mutations in Cardiomyopathy With Left Ventricular Hypertrabeculation (2009) (97)
- Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. (2013) (93)
- Haploinsufficiency of TAB2 causes congenital heart defects in humans. (2010) (92)
- “Molecular rulers” for calibrating phenotypic effects of telomere imbalance (2002) (80)
- Calibration of 6q subtelomere deletions to define genotype/phenotype correlations (2005) (72)
- Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome (2005) (63)
- An Estimate of the Average Number of Recessive Lethal Mutations Carried by Humans (2014) (61)
- Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes (2018) (53)
- A population-based study of autosomal-recessive disease-causing mutations in a founder population. (2012) (52)
- SMC1A expression and mechanism of pathogenicity in probands with X‐Linked Cornelia de Lange syndrome (2009) (52)
- Mechanisms of disease: epigenesis. (2007) (52)
- NSD1 analysis for Sotos syndrome: Insights and perspectives from the clinical laboratory (2005) (47)
- Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder (2013) (45)
- Homozygous Founder Mutation in Desmocollin-2 (DSC2) Causes Arrhythmogenic Cardiomyopathy in the Hutterite Population (2013) (44)
- Partial monosomy of distal 10q: three new cases and a review. (1999) (44)
- Yield of Additional Genetic Testing after Chromosomal Microarray for Diagnosis of Neurodevelopmental Disability and Congenital Anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) (2018) (39)
- Professional medical education and genomics. (2014) (38)
- MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. (2019) (32)
- Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals (2018) (32)
- Microphthalmia with Linear Skin Defects: A Case Report and Review (2008) (31)
- Deletion of 1q in a patient with acrofacial dysostosis. (1999) (28)
- A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects (2016) (25)
- A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex (2007) (24)
- Recessive TRAPPC 11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability (2013) (20)
- A Pilot Newborn Screening Program for Lysosomal Storage Disorders (LSD) in Illinois (2012) (19)
- Methylmalonic aciduria (cblF): case report and response to therapy. (1998) (19)
- Paternal deletion 6q24.3: A new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance (2008) (19)
- Integration of internet-based genetic databases into the medical school pre-clinical and clinical curriculum (2006) (19)
- RUNX2 Quadruplication: Additional Evidence Toward a New Form of Syndromic Craniosynostosis (2013) (18)
- Medical genetics and genomics education: how do we define success? Where do we focus our resources? (2017) (17)
- Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19 p 13 (2011) (17)
- Expanding the spectrum of microdeletion 4q21 syndrome: A partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and pierre robin sequence (2013) (17)
- The natural history of phytosterolemia: Observations on its homeostasis. (2017) (16)
- Parents: critical stakeholders in expanding newborn screening. (2012) (15)
- Chondrodysplasia punctata associated with malabsorption from bariatric procedures. (2010) (15)
- Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion (2013) (13)
- Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals (2018) (13)
- A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity (2019) (13)
- Fine mapping of a locus for nonsyndromic mental retardation on chromosome 19p13 (2008) (13)
- Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders. (2020) (12)
- Chromosomal localization of CCS, the copper chaperone for Cu/Zn superoxide dismutase (2000) (12)
- Developmental Regulation of Expression of C-Reactive Protein and Serum Amyloid A in Syrian Hamsters (1991) (11)
- Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation (2017) (11)
- Evidence of a mechanism for isodicentric chromosome Y formation in a 45,X/46,X,idic(Y)(p11.31)/46,X,del(Y)(p11.31) mosaic karyotype. (2011) (10)
- Expanding newborn screening for lysosomal disorders: opportunities and challenges. (2011) (10)
- Armenian hamster female protein (serum amyloid P component). Comparison with the sex-regulated homolog in Syrian hamster. (1989) (10)
- A Review of Fanconi Anemia for the Practicing Pediatrician. (2015) (8)
- Syndromic craniosynostosis associated with microdeletion of chromosome 19p13.12–19p13.2 (2015) (8)
- Vertebral anomalies in a new family with ODED syndrome (2000) (8)
- Internet Resources in Medical Genetics (2014) (6)
- Disclosure of Genetic Research Results to Members of a Founder Population (2014) (6)
- Training the next generation of genomic medicine providers: trends in medical education and national assessment (2020) (6)
- The Effect of the Testis on the Ovary: Structure-Function Relationships in a Neonate with a Unilateral Ovotestis (Ovotesticular Disorder of Sex Development) (2017) (6)
- Familial pyloric stenosis associated with developmental delays. (2005) (6)
- Unique cardiac and cerebral anomalies with chondrodysplasia punctata. (1998) (5)
- Internet Resources in Medical Genetics (2001) (4)
- Novel KDM6A Kabuki Syndrome Mutation With Hyperinsulinemic Hypoglycemia and Pulmonary Hypertension Requiring ECMO (2022) (4)
- Newborn screening for lysosomal disorders in Illinois (2016) (4)
- Correction to: Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals (Genetics in Medicine, (2019), 21, 1, (233-242), 10.1038/s41436-018-0013-9) (2018) (3)
- BATTEN DISEASE CAUSED BY A NOVEL MUTATION IN THE PPT1 GENE. (2016) (3)
- Unique Characteristics of the X Chromosome and Related Disorders (2017) (2)
- Hypernatremia after cleft lip repair in a patient with holoprosencephaly. (2006) (2)
- Prenatal diagnostic conundrum involving a novel ATP7A duplication (2013) (2)
- A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects (2016) (2)
- 4q21 microdeletion in a patient with epilepsy and brain malformations (2015) (2)
- Ophthalmoplegia in maple syrup urine disease. (2003) (2)
- Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) (2018) (2)
- Correction: “Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals” (2018) (2)
- Two Children with Macrocephaly, Developmental Delay, and PTEN Mutation (2009) (1)
- Red flags for genetic disorders (2018) (1)
- An unusual case of an infant with failure to thrive. (2012) (0)
- An aCGH screening study in 150 patients identifies a novel dosage-sensitive gene, TAB2, which is disrupted in multiple patients with cardiac defects (2009) (0)
- PITX 3 gene consequence of a recurrent mutation in the Posterior polar cataract is the predominant (2005) (0)
- Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes (2018) (0)
- A 13‐Year Old Female with Intractable Seizures (2015) (0)
- A Newborn with Multiple Anomalies (2016) (0)
- De novo C-terminal truncating mutations in MN1 cause a neurodevelopmental syndrome with distinctive facial features (2019) (0)
- Immunohistochemical Staining of Craniosynostotic Tissue Suggest a Link between Inflammatory Signaling and Osteoclast Activation in Cranial Suture Patency (2018) (0)
- Recurrent Anion Gap Acidosis: An Unusual Presentation of X-Linked Adrenoleukodystrophy in a Five-year-old Male (2010) (0)
- Abstract 79: Whole-Proteome Analysis of Craniosynostotic Tissue Suggests a Link Between Inflammatory Signaling and Premature Suture Fusion (2015) (0)
- Index of Suspicion in the NurseryCase 1: Infant With Dysmorphic Face and Broad Thumbs (2015) (0)
- The relationship between performance on the medical genetics and genomics in-training and certifying examinations (2021) (0)
- A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity (2019) (0)
- Abstract P69: Proteomic Analysis of Craniosynostosis Tissue Suggests a Link Between Inflammation and Premature Suture Fusion (2015) (0)
- Motor neuron disease - SOD1 transgenic models (2000) (0)
- Correction: “Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals” (2018) (0)
- The relation between performance on the genetics and genomics in-training and certifying examinations (2021) (0)
- Whole-Proteome Analysis and Immunohistochemical Staining of Craniosynostotic Tissue Suggest a Link between Inflammatory Signaling and Osteoclast Activation in Cranial Suture Patency Empirical Validation of the Operative Entrustability Assessment Using Resident Performance in Autologous Breast Recons (2016) (0)
- Training the next generation of genomic medicine providers: trends in medical education and national assessment (2020) (0)
- CCM CARE GUIDELINES 1 (2017) (0)
- A Phenotypic Female Adolescent with Primary Amenorrhea and Dysmorphic Features. (2019) (0)
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