LORRAINE POTOCKI to Phenotype
This is a "connection" page, showing publications LORRAINE POTOCKI has written about Phenotype.
Connection Strength
1.537
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Potocki-Shaffer syndrome in a child without intellectual disability-The role of PHF21A in cognitive function. Am J Med Genet A. 2017 Mar; 173(3):716-720.
Score: 0.254
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Inherited dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndrome. Am J Med Genet A. 2014 Feb; 164A(2):500-4.
Score: 0.205
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Cognitive and behavioral characterization of the Potocki-Lupski syndrome (duplication 17p11.2). J Dev Behav Pediatr. 2010 Feb-Mar; 31(2):137-43.
Score: 0.157
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Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet. 2007 Apr; 80(4):633-49.
Score: 0.128
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Cognitive and adaptive behavior profiles in Smith-Magenis syndrome. J Dev Behav Pediatr. 2006 Jun; 27(3):188-92.
Score: 0.122
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Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]. Genet Med. 2003 Nov-Dec; 5(6):430-4.
Score: 0.102
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Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS. Am J Med Genet A. 2020 09; 182(9):2077-2084.
Score: 0.081
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GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment. Am J Med Genet A. 2020 05; 182(5):1167-1176.
Score: 0.079
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Novel EED mutation in patient with Weaver syndrome. Am J Med Genet A. 2017 Feb; 173(2):541-545.
Score: 0.063
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Potocki-Shaffer syndrome: comprehensive clinical assessment, review of the literature, and proposals for medical management. Am J Med Genet A. 2010 Mar; 152A(3):565-72.
Score: 0.039
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Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications. Am J Med Genet A. 2005 Oct 01; 138A(2):175-80.
Score: 0.029
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Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. Genome Med. 2024 05 30; 16(1):72.
Score: 0.026
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Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotype. Clin Genet. 2001 Nov; 60(5):336-44.
Score: 0.022
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A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay. Am J Med Genet A. 2022 01; 188(1):259-268.
Score: 0.022
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Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer. Sci Adv. 2020 01; 6(4):eaax0021.
Score: 0.020
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Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome). Genet Med. 2019 10; 21(10):2355-2363.
Score: 0.018
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Hypertension in Potocki-Shaffer syndrome: A case report. Eur J Med Genet. 2020 Jan; 63(1):103633.
Score: 0.018
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Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN. Blood. 2018 08 09; 132(6):658-662.
Score: 0.017
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Current clinical evidence does not support a link between TBL1XR1 and Rett syndrome: Description of one patient with Rett features and a novel mutation in TBL1XR1, and a review of TBL1XR1 phenotypes. Am J Med Genet A. 2018 07; 176(7):1683-1687.
Score: 0.017
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Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet. 2016 Oct 06; 99(4):831-845.
Score: 0.016
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The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families. Genet Med. 2017 01; 19(1):45-52.
Score: 0.015
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Triploidy mosaicism (45,X/68,XX) in an infant presenting with failure to thrive. Am J Med Genet A. 2016 Mar; 170(3):694-8.
Score: 0.015
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Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. Am J Hum Genet. 2015 Nov 05; 97(5):691-707.
Score: 0.015
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The phenotype of recurrent 10q22q23 deletions and duplications. Eur J Hum Genet. 2011 Apr; 19(4):400-8.
Score: 0.010
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Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS. Am J Hum Genet. 2010 Mar 12; 86(3):462-70.
Score: 0.010
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Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome. Eur J Hum Genet. 2010 Apr; 18(4):429-35.
Score: 0.010
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RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome. Am J Med Genet A. 2006 Nov 15; 140(22):2454-63.
Score: 0.008
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Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome. Eur J Hum Genet. 2005 May; 13(5):528-40.
Score: 0.007
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Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome. Hum Genet. 2004 Nov; 115(6):515-24.
Score: 0.007
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DFNB3, spectrum of MYO15A recessive mutant alleles and an emerging genotype-phenotype correlation. Adv Otorhinolaryngol. 2002; 61:124-30.
Score: 0.006