Connection

ELIZABETH ROEDER to Male

This is a "connection" page, showing publications ELIZABETH ROEDER has written about Male.
Connection Strength

0.260
  1. Metastatic medulloblastoma in an adolescent with Simpson-Golabi-Behmel syndrome. Am J Med Genet A. 2012 Oct; 158A(10):2534-6.
    View in: PubMed
    Score: 0.017
  2. 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.
    View in: PubMed
    Score: 0.012
  3. Ser351Cys mutation in the fibroblast growth factor receptor 2 gene results in severe Pfeiffer syndrome. Clin Dysmorphol. 2006 Jul; 15(3):187-188.
    View in: PubMed
    Score: 0.011
  4. 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.
    View in: PubMed
    Score: 0.010
  5. SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability. Am J Hum Genet. 2023 05 04; 110(5):790-808.
    View in: PubMed
    Score: 0.009
  6. 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.
    View in: PubMed
    Score: 0.008
  7. 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.
    View in: PubMed
    Score: 0.008
  8. Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy. Ann Neurol. 2021 08; 90(2):274-284.
    View in: PubMed
    Score: 0.008
  9. Metabolic impact of pathogenic variants in the mitochondrial glutamyl-tRNA synthetase EARS2. J Inherit Metab Dis. 2021 07; 44(4):949-960.
    View in: PubMed
    Score: 0.008
  10. Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders. Brain. 2020 12 01; 143(12):3564-3573.
    View in: PubMed
    Score: 0.008
  11. 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.
    View in: PubMed
    Score: 0.007
  12. 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.
    View in: PubMed
    Score: 0.007
  13. 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.
    View in: PubMed
    Score: 0.007
  14. Mutation update for the SATB2 gene. Hum Mutat. 2019 08; 40(8):1013-1029.
    View in: PubMed
    Score: 0.007
  15. 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.
    View in: PubMed
    Score: 0.007
  16. Cornelia de Lange syndrome in diverse populations. Am J Med Genet A. 2019 02; 179(2):150-158.
    View in: PubMed
    Score: 0.007
  17. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. Genet Med. 2018 10; 20(10):1175-1185.
    View in: PubMed
    Score: 0.006
  18. Cataract in early onset and classic Cockayne syndrome. Ophthalmic Genet. 1997 Dec; 18(4):193-7.
    View in: PubMed
    Score: 0.006
  19. 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.
    View in: PubMed
    Score: 0.006
  20. 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.
    View in: PubMed
    Score: 0.006
  21. 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.
    View in: PubMed
    Score: 0.006
  22. Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment. Hum Mutat. 2016 08; 37(8):786-93.
    View in: PubMed
    Score: 0.006
  23. Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. Hum Genet. 2016 May; 135(5):569-586.
    View in: PubMed
    Score: 0.005
  24. De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. Hum Mutat. 2015 Apr; 36(4):454-62.
    View in: PubMed
    Score: 0.005
  25. Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1. PLoS One. 2014; 9(9):e107028.
    View in: PubMed
    Score: 0.005
  26. 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.
    View in: PubMed
    Score: 0.005
  27. 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.
    View in: PubMed
    Score: 0.005
  28. Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications. Hum Mol Genet. 2011 May 15; 20(10):1975-88.
    View in: PubMed
    Score: 0.004
  29. Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes. Genome Res. 2011 Jan; 21(1):33-46.
    View in: PubMed
    Score: 0.004
  30. Phenotypic manifestations of copy number variation in chromosome 16p13.11. Eur J Hum Genet. 2011 Mar; 19(3):280-6.
    View in: PubMed
    Score: 0.004
  31. 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.
    View in: PubMed
    Score: 0.004
  32. 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.
    View in: PubMed
    Score: 0.004
  33. Tetrasomy 18p: report of the molecular and clinical findings of 43 individuals. Am J Med Genet A. 2010 Sep; 152A(9):2164-72.
    View in: PubMed
    Score: 0.004
  34. 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.
    View in: PubMed
    Score: 0.004
  35. 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.
    View in: PubMed
    Score: 0.004
  36. Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12. Eur J Hum Genet. 2010 Mar; 18(3):278-84.
    View in: PubMed
    Score: 0.004
  37. 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.
    View in: PubMed
    Score: 0.003
  38. Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome. Clin Genet. 2007 Oct; 72(4):329-38.
    View in: PubMed
    Score: 0.003
  39. Risk factors for perinatal arterial stroke: a study of 60 mother-child pairs. Pediatr Neurol. 2007 Aug; 37(2):99-107.
    View in: PubMed
    Score: 0.003
  40. Neonatal phenotype in Kabuki syndrome. Am J Med Genet A. 2005 Jan 30; 132A(3):244-7.
    View in: PubMed
    Score: 0.003
  41. MICRO syndrome: an entity distinct from COFS syndrome. Am J Med Genet A. 2004 Jul 30; 128A(3):235-45.
    View in: PubMed
    Score: 0.002
  42. Trisomy 12 mosaicism confirmed in multiple organs from a liveborn child. Am J Med Genet. 2000 Dec 18; 95(5):444-9.
    View in: PubMed
    Score: 0.002
  43. Scapuloiliac dysostosis (Kosenow syndrome, pelvis-shoulder dysplasia) spectrum: three additional cases. Am J Med Genet. 2000 Dec 18; 95(5):496-506.
    View in: PubMed
    Score: 0.002
  44. 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.
    View in: PubMed
    Score: 0.002
  45. 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.
    View in: PubMed
    Score: 0.002
  46. Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired. Nat Genet. 1998 Oct; 20(2):180-3.
    View in: PubMed
    Score: 0.002
  47. Ritscher-Schinzel (3C) syndrome: documentation of the phenotype. Am J Med Genet. 1997 Feb 11; 68(4):421-7.
    View in: PubMed
    Score: 0.001
  48. Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing. Genomics. 1995 Jul 01; 28(1):1-14.
    View in: PubMed
    Score: 0.001
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.