ELIZABETH ROEDER to Humans
This is a "connection" page, showing publications ELIZABETH ROEDER has written about Humans.
Connection Strength
0.174
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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: 0.008
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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: 0.006
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Ser351Cys mutation in the fibroblast growth factor receptor 2 gene results in severe Pfeiffer syndrome. Clin Dysmorphol. 2006 Jul; 15(3):187-188.
Score: 0.005
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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: 0.005
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Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections. Genet Med. 2024 02; 26(2):101023.
Score: 0.004
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Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms. Am J Med Genet A. 2023 08; 191(8):2113-2131.
Score: 0.004
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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: 0.004
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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: 0.004
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Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly. Am J Hum Genet. 2023 03 02; 110(3):499-515.
Score: 0.004
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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: 0.004
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Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences. J Med Genet. 2023 06; 60(6):547-556.
Score: 0.004
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Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors. AJNR Am J Neuroradiol. 2022 07; 43(7):1048-1053.
Score: 0.004
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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: 0.004
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Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy. Ann Neurol. 2021 08; 90(2):274-284.
Score: 0.004
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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: 0.004
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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: 0.004
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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: 0.003
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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: 0.003
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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: 0.003
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Mutation update for the SATB2 gene. Hum Mutat. 2019 08; 40(8):1013-1029.
Score: 0.003
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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: 0.003
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Cornelia de Lange syndrome in diverse populations. Am J Med Genet A. 2019 02; 179(2):150-158.
Score: 0.003
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LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV. Hum Mutat. 2018 12; 39(12):1916-1925.
Score: 0.003
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Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. Genet Med. 2018 10; 20(10):1175-1185.
Score: 0.003
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Cataract in early onset and classic Cockayne syndrome. Ophthalmic Genet. 1997 Dec; 18(4):193-7.
Score: 0.003
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Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. Hum Mutat. 2017 12; 38(12):1774-1785.
Score: 0.003
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Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Med. 2017 09 21; 9(1):83.
Score: 0.003
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Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nat Genet. 2017 Oct; 49(10):1529-1538.
Score: 0.003
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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: 0.003
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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: 0.003
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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: 0.003
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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: 0.003
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Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. Hum Genet. 2016 May; 135(5):569-586.
Score: 0.003
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NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation. Elife. 2015 Aug 27; 4.
Score: 0.003
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A de novo 1.58?Mb deletion, including MAP2K6 and mapping 1.28?Mb upstream to SOX9, identified in a patient with Pierre Robin sequence and osteopenia with multiple fractures. Am J Med Genet A. 2015 Aug; 167A(8):1842-50.
Score: 0.002
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De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. Hum Mutat. 2015 Apr; 36(4):454-62.
Score: 0.002
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Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1. PLoS One. 2014; 9(9):e107028.
Score: 0.002
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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: 0.002
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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: 0.002
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Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications. Hum Mol Genet. 2011 May 15; 20(10):1975-88.
Score: 0.002
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Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes. Genome Res. 2011 Jan; 21(1):33-46.
Score: 0.002
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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: 0.002
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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: 0.002
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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: 0.002
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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: 0.002
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Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals. J Med Genet. 2010 Aug; 47(8):513-24.
Score: 0.002
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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: 0.002
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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: 0.002
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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: 0.002
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Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet Med. 2008 Apr; 10(4):267-77.
Score: 0.002
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Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome. Clin Genet. 2007 Oct; 72(4):329-38.
Score: 0.001
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Risk factors for perinatal arterial stroke: a study of 60 mother-child pairs. Pediatr Neurol. 2007 Aug; 37(2):99-107.
Score: 0.001
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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: 0.001
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Neonatal phenotype in Kabuki syndrome. Am J Med Genet A. 2005 Jan 30; 132A(3):244-7.
Score: 0.001
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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: 0.001
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Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. Proc Natl Acad Sci U S A. 2003 Nov 11; 100(23):13424-9.
Score: 0.001
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Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiency. J Inherit Metab Dis. 2002 Aug; 25(4):299-314.
Score: 0.001
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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: 0.001
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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: 0.001
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Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome. Am J Med Genet. 2000 Apr 24; 91(5):387-90.
Score: 0.001
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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: 0.001
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Apparent cyclophosphamide (cytoxan) embryopathy: a distinct phenotype? Am J Med Genet. 1999 Sep 17; 86(3):237-41.
Score: 0.001
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Familial paragangliomas: the emerging impact of molecular genetics on evaluation and management. Am J Otol. 1999 Sep; 20(5):639-43.
Score: 0.001
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Mosaic trisomy 16 ascertained through amniocentesis: evaluation of 11 new cases. Am J Med Genet. 1998 Dec 28; 80(5):473-80.
Score: 0.001
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Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired. Nat Genet. 1998 Oct; 20(2):180-3.
Score: 0.001
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Ritscher-Schinzel (3C) syndrome: documentation of the phenotype. Am J Med Genet. 1997 Feb 11; 68(4):421-7.
Score: 0.001
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Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing. Genomics. 1995 Jul 01; 28(1):1-14.
Score: 0.001