Darrel J. Waggoner to Humans
This is a "connection" page, showing publications Darrel J. Waggoner has written about Humans.
Connection Strength
0.413
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The relationship between performance on the medical genetics and genomics in-training and certifying examinations. Genet Med. 2022 01; 24(1):225-231.
Score: 0.026
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Training the next generation of genomic medicine providers: trends in medical education and national assessment. Genet Med. 2020 10; 22(10):1718-1722.
Score: 0.023
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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). Genet Med. 2018 10; 20(10):1105-1113.
Score: 0.020
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BATTEN DISEASE CAUSED BY A NOVEL MUTATION IN THE PPT1 GENE. Retin Cases Brief Rep. 2016; 10(3):211-3.
Score: 0.017
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4q21 microdeletion in a patient with epilepsy and brain malformations. Am J Med Genet A. 2015 Jun; 167(6):1409-13.
Score: 0.016
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Disclosure of genetic research results to members of a founder population. J Genet Couns. 2014 Dec; 23(6):984-91.
Score: 0.015
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Professional medical education and genomics. Annu Rev Genomics Hum Genet. 2014; 15:507-16.
Score: 0.015
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Internet resources in medical genetics. Curr Protoc Hum Genet. 2014 Jan 21; 80:9.12.1-9.12.8.
Score: 0.015
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Parents: critical stakeholders in expanding newborn screening. J Pediatr. 2012 Sep; 161(3):385-9.
Score: 0.013
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Expanding newborn screening for lysosomal disorders: opportunities and challenges. Dev Disabil Res Rev. 2011; 17(1):9-14.
Score: 0.012
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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. Eur J Med Genet. 2011 Mar-Apr; 54(2):161-4.
Score: 0.012
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Internet resources in medical genetics. Curr Protoc Hum Genet. 2009 Jul; Chapter 9:Unit 9.12.
Score: 0.011
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Chondrodysplasia punctata associated with malabsorption from bariatric procedures. Surg Obes Relat Dis. 2010 Jan-Feb; 6(1):99-101.
Score: 0.011
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Fine mapping of a locus for nonsyndromic mental retardation on chromosome 19p13. Am J Med Genet A. 2008 Jun 01; 146A(11):1414-22.
Score: 0.010
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Paternal deletion 6q24.3: a new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance. Am J Med Genet A. 2008 Feb 01; 146A(3):354-60.
Score: 0.010
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Mosaicism del(22)(q11.2q11.2)/dup(22)(q11.2q11.2) in a patient with features of 22q11.2 deletion syndrome. Am J Med Genet A. 2007 May 15; 143A(10):1082-6.
Score: 0.009
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Mechanisms of disease: epigenesis. Semin Pediatr Neurol. 2007 Mar; 14(1):7-14.
Score: 0.009
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NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory. Genet Med. 2005 Oct; 7(8):524-33.
Score: 0.008
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Familial pyloric stenosis associated with developmental delays. J Pediatr Gastroenterol Nutr. 2005 Jul; 41(1):129-32.
Score: 0.008
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Ophthalmoplegia in maple syrup urine disease. J AAPOS. 2003 Aug; 7(4):300-2.
Score: 0.007
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Vertebral anomalies in a new family with ODED syndrome. Clin Genet. 2000 Jun; 57(6):444-8.
Score: 0.006
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Clinic-based study of plexiform neurofibromas in neurofibromatosis 1. Am J Med Genet. 2000 May 15; 92(2):132-5.
Score: 0.006
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Partial monosomy of distal 10q: three new cases and a review. Am J Med Genet. 1999 Sep 03; 86(1):1-5.
Score: 0.005
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The role of copper in neurodegenerative disease. Neurobiol Dis. 1999 Aug; 6(4):221-30.
Score: 0.005
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Deletion of 1q in a patient with acrofacial dysostosis. Am J Med Genet. 1999 Feb 12; 82(4):301-4.
Score: 0.005
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Methylmalonic aciduria (cblF): case report and response to therapy. Am J Med Genet. 1998 Oct 12; 79(5):373-5.
Score: 0.005
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Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes. Genet Med. 2019 01; 21(1):195-206.
Score: 0.005
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Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals. Genet Med. 2019 01; 21(1):233-242.
Score: 0.005
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The natural history of phytosterolemia: Observations on its homeostasis. Atherosclerosis. 2018 02; 269:122-128.
Score: 0.005
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Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience. J Pediatr. 2017 11; 190:130-135.
Score: 0.005
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Medical genetics and genomics education: how do we define success? Where do we focus our resources? Genet Med. 2017 07; 19(7):751-753.
Score: 0.005
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The Effect of the Testis on the Ovary: Structure-Function Relationships in a Neonate with a Unilateral Ovotestis (Ovotesticular Disorder of Sex Development)?. Horm Res Paediatr. 2017; 87(3):205-212.
Score: 0.005
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Recommendations for the integration of genomics into clinical practice. Genet Med. 2016 11; 18(11):1075-1084.
Score: 0.004
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A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects. Neurogenetics. 2016 07; 17(3):173-8.
Score: 0.004
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A Review of Fanconi Anemia for the Practicing Pediatrician. Pediatr Ann. 2015 Oct; 44(10):444-5, 448, 450 passim.
Score: 0.004
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A 13-year old female with intractable seizures. Brain Pathol. 2015 Mar; 25(2):231-2.
Score: 0.004
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An estimate of the average number of recessive lethal mutations carried by humans. Genetics. 2015 Apr; 199(4):1243-54.
Score: 0.004
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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. Am J Med Genet A. 2013 Sep; 161A(9):2327-33.
Score: 0.004
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Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population. Circ Cardiovasc Genet. 2013 Aug; 6(4):327-36.
Score: 0.004
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Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. Am J Hum Genet. 2013 Jul 11; 93(1):181-90.
Score: 0.004
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Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder. Eur J Hum Genet. 2014 Jan; 22(1):57-63.
Score: 0.004
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RUNX2 quadruplication: additional evidence toward a new form of syndromic craniosynostosis. J Craniofac Surg. 2013 Jan; 24(1):126-9.
Score: 0.003
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An unusual case of an infant with failure to thrive. Pediatr Ann. 2012 Dec; 41(12):502-5.
Score: 0.003
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Prenatal diagnostic conundrum involving a novel ATP7A duplication. Clin Genet. 2013 Jul; 84(1):97-8.
Score: 0.003
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A population-based study of autosomal-recessive disease-causing mutations in a founder population. Am J Hum Genet. 2012 Oct 05; 91(4):608-20.
Score: 0.003
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Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13. Hum Mol Genet. 2011 Apr 01; 20(7):1285-9.
Score: 0.003
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Haploinsufficiency of TAB2 causes congenital heart defects in humans. Am J Hum Genet. 2010 Jun 11; 86(6):839-49.
Score: 0.003
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Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010 May 14; 86(5):749-64.
Score: 0.003
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SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome. Hum Mutat. 2009 Nov; 30(11):1535-42.
Score: 0.003
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Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation. Circ Cardiovasc Genet. 2009 Oct; 2(5):442-9.
Score: 0.003
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Microphthalmia with linear skin defects: a case report and review. Pediatr Dermatol. 2008 Sep-Oct; 25(5):548-52.
Score: 0.003
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Two Children with macrocephaly, developmental delay, and PTEN mutation. Clin Pediatr (Phila). 2009 Jan; 48(1):89-92.
Score: 0.003
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A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex. Neuromuscul Disord. 2007 Apr; 17(4):285-9.
Score: 0.002
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TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome. Pediatr Res. 2005 Nov; 58(5):981-6.
Score: 0.002
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Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. Am J Hum Genet. 2005 Aug; 77(2):193-204.
Score: 0.002
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Calibration of 6q subtelomere deletions to define genotype/phenotype correlations. Clin Genet. 2005 May; 67(5):396-403.
Score: 0.002
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Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome. J Med Genet. 2005 Apr; 42(4):307-13.
Score: 0.002
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"Molecular rulers" for calibrating phenotypic effects of telomere imbalance. J Med Genet. 2002 Oct; 39(10):734-40.
Score: 0.002
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Chromosomal localization of CCS, the copper chaperone for Cu/Zn superoxide dismutase. Mamm Genome. 2000 May; 11(5):409-11.
Score: 0.001
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Unique cardiac and cerebral anomalies with chondrodysplasia punctata. Am J Med Genet. 1998 Jan 06; 75(1):59-61.
Score: 0.001