ELIZABETH ROEDER to Abnormalities, Multiple
This is a "connection" page, showing publications ELIZABETH ROEDER has written about Abnormalities, Multiple.
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Recommending revised hepatoblastoma surveillance in children with a pathogenic ARID1A variant. Reply to "Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with hepatoblastoma" by C?rcamo et al. 2022. Eur J Med Genet. 2023 02; 66(2):104694.
Score: 0.136
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Cornelia de Lange syndrome in diverse populations. Am J Med Genet A. 2019 02; 179(2):150-158.
Score: 0.103
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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: 0.091
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Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond--Blackfan anaemia. J Med Genet. 2010 Nov; 47(11):777-81.
Score: 0.058
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Tetrasomy 18p: report of the molecular and clinical findings of 43 individuals. Am J Med Genet A. 2010 Sep; 152A(9):2164-72.
Score: 0.058
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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: 0.055
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Neonatal phenotype in Kabuki syndrome. Am J Med Genet A. 2005 Jan 30; 132A(3):244-7.
Score: 0.039
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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: 0.038
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Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms. Mol Genet Genomic Med. 2021 10; 9(10):e1809.
Score: 0.031
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Scapuloiliac dysostosis (Kosenow syndrome, pelvis-shoulder dysplasia) spectrum: three additional cases. Am J Med Genet. 2000 Dec 18; 95(5):496-506.
Score: 0.030
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Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia. Am J Med Genet. 2000 Feb 28; 90(5):407-22.
Score: 0.028
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Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. Hum Mutat. 2020 03; 41(3):641-654.
Score: 0.028
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Apparent cyclophosphamide (cytoxan) embryopathy: a distinct phenotype? Am J Med Genet. 1999 Sep 17; 86(3):237-41.
Score: 0.027
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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: 0.027
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Ritscher-Schinzel (3C) syndrome: documentation of the phenotype. Am J Med Genet. 1997 Feb 11; 68(4):421-7.
Score: 0.023
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A patient with a unique frameshift mutation in GPC3, causing Simpson-Golabi-Behmel syndrome, presenting with craniosynostosis, penoscrotal hypospadias, and a large prostatic utricle. Am J Med Genet A. 2013 Dec; 161A(12):3121-5.
Score: 0.018
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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: 0.015
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Trisomy 12 mosaicism confirmed in multiple organs from a liveborn child. Am J Med Genet. 2000 Dec 18; 95(5):444-9.
Score: 0.007