ELIZABETH ROEDER to Child
This is a "connection" page, showing publications ELIZABETH ROEDER has written about Child.
Connection Strength
0.251
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Metastatic medulloblastoma in an adolescent with Simpson-Golabi-Behmel syndrome. Am J Med Genet A. 2012 Oct; 158A(10):2534-6.
Score: 0.023
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Homozygous myotonic dystrophy: clinical findings in two patients and review of the literature. Am J Med Genet A. 2007 Sep 01; 143A(17):2058-61.
Score: 0.017
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Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. Eur J Hum Genet. 2024 Aug; 32(8):928-937.
Score: 0.013
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Intranasal Carbetocin Reduces Hyperphagia, Anxiousness, and Distress in Prader-Willi Syndrome: CARE-PWS Phase 3 Trial. J Clin Endocrinol Metab. 2023 06 16; 108(7):1696-1708.
Score: 0.012
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SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability. Am J Hum Genet. 2023 05 04; 110(5):790-808.
Score: 0.012
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Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy. Ann Neurol. 2021 08; 90(2):274-284.
Score: 0.011
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Metabolic impact of pathogenic variants in the mitochondrial glutamyl-tRNA synthetase EARS2. J Inherit Metab Dis. 2021 07; 44(4):949-960.
Score: 0.011
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Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders. Brain. 2020 12 01; 143(12):3564-3573.
Score: 0.010
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De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype. Am J Med Genet A. 2020 05; 182(5):962-973.
Score: 0.010
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The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis. Genet Med. 2020 02; 22(2):389-397.
Score: 0.010
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Mutation update for the SATB2 gene. Hum Mutat. 2019 08; 40(8):1013-1029.
Score: 0.009
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De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 02 28; 11(1):12.
Score: 0.009
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Cornelia de Lange syndrome in diverse populations. Am J Med Genet A. 2019 02; 179(2):150-158.
Score: 0.009
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Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. Genet Med. 2018 10; 20(10):1175-1185.
Score: 0.009
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Cataract in early onset and classic Cockayne syndrome. Ophthalmic Genet. 1997 Dec; 18(4):193-7.
Score: 0.008
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Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features. Am J Hum Genet. 2017 Apr 06; 100(4):676-688.
Score: 0.008
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Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. Hum Genet. 2017 04; 136(4):377-386.
Score: 0.008
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De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2017 Feb 02; 100(2):352-363.
Score: 0.008
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Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment. Hum Mutat. 2016 08; 37(8):786-93.
Score: 0.008
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Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1. PLoS One. 2014; 9(9):e107028.
Score: 0.007
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Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. Hum Mol Genet. 2014 Jun 01; 23(11):2888-900.
Score: 0.006
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Phenotypic manifestations of copy number variation in chromosome 16p13.11. Eur J Hum Genet. 2011 Mar; 19(3):280-6.
Score: 0.005
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Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems. Am J Hum Genet. 2010 Dec 10; 87(6):857-65.
Score: 0.005
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Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet. 2010 May; 47(5):332-41.
Score: 0.005
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Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12. Eur J Hum Genet. 2010 Mar; 18(3):278-84.
Score: 0.005
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Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet. 2008 Dec; 40(12):1466-71.
Score: 0.005
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Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation. Am J Med Genet A. 2007 Jun 15; 143A(12):1358-65.
Score: 0.004
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MICRO syndrome: an entity distinct from COFS syndrome. Am J Med Genet A. 2004 Jul 30; 128A(3):235-45.
Score: 0.003