Darrel J. Waggoner to Male
This is a "connection" page, showing publications Darrel J. Waggoner has written about Male.
Connection Strength
0.229
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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: 0.023
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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: 0.021
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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: 0.014
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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: 0.014
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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: 0.013
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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: 0.012
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Familial pyloric stenosis associated with developmental delays. J Pediatr Gastroenterol Nutr. 2005 Jul; 41(1):129-32.
Score: 0.011
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Vertebral anomalies in a new family with ODED syndrome. Clin Genet. 2000 Jun; 57(6):444-8.
Score: 0.008
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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: 0.008
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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: 0.008
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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: 0.007
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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: 0.007
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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: 0.007
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The natural history of phytosterolemia: Observations on its homeostasis. Atherosclerosis. 2018 02; 269:122-128.
Score: 0.007
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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: 0.006
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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: 0.006
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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: 0.005
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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: 0.005
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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: 0.005
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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: 0.005
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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: 0.005
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Prenatal diagnostic conundrum involving a novel ATP7A duplication. Clin Genet. 2013 Jul; 84(1):97-8.
Score: 0.005
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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: 0.004
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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: 0.004
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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: 0.004
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Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation. Circ Cardiovasc Genet. 2009 Oct; 2(5):442-9.
Score: 0.004
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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: 0.003
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Calibration of 6q subtelomere deletions to define genotype/phenotype correlations. Clin Genet. 2005 May; 67(5):396-403.
Score: 0.003
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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: 0.003
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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