JENNIFER POSEY to Phenotype
This is a "connection" page, showing publications JENNIFER POSEY has written about Phenotype.
Connection Strength
2.531
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Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med. 2017 01 05; 376(1):21-31.
Score: 0.275
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DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders. Am J Hum Genet. 2025 Feb 06; 112(2):394-413.
Score: 0.120
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Expanding the phenotype of PPP1R21-related neurodevelopmental disorder. Clin Genet. 2024 Jun; 105(6):620-629.
Score: 0.113
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Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile. Eur J Hum Genet. 2024 Oct; 32(10):1227-1237.
Score: 0.112
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Metabolic individuality: Limitations, challenges, and potential for clinical utility. Cell Metab. 2023 02 07; 35(2):233-235.
Score: 0.105
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High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population. Am J Hum Genet. 2021 10 07; 108(10):1981-2005.
Score: 0.096
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Risk of sudden cardiac death in EXOSC5-related disease. Am J Med Genet A. 2021 08; 185(8):2532-2540.
Score: 0.094
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Clinical genomics and contextualizing genome variation in the diagnostic laboratory. Expert Rev Mol Diagn. 2020 10; 20(10):995-1002.
Score: 0.090
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Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1. Mol Genet Genomic Med. 2020 01; 8(1):e1023.
Score: 0.084
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A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis. Am J Med Genet A. 2018 04; 176(4):1015-1022.
Score: 0.075
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Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. Genome Med. 2017 08 14; 9(1):73.
Score: 0.072
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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: 0.064
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Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation. Am J Hum Genet. 2025 May 01; 112(5):1139-1157.
Score: 0.031
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Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia. Am J Hum Genet. 2024 Nov 07; 111(11):2566-2581.
Score: 0.030
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Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum. Genet Med. 2025 Jan; 27(1):101273.
Score: 0.029
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Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders. Genet Med. 2025 Apr; 27(4):101251.
Score: 0.029
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PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response. Am J Hum Genet. 2024 07 11; 111(7):1352-1369.
Score: 0.029
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NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy. Genome Med. 2024 04 03; 16(1):53.
Score: 0.028
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Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt. Am J Hum Genet. 2024 03 07; 111(3):487-508.
Score: 0.028
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Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature. Am J Med Genet A. 2024 03; 194(3):e63455.
Score: 0.028
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Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking. J Inherit Metab Dis. 2023 11; 46(6):1195-1205.
Score: 0.028
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Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits. Clin Genet. 2023 09; 104(3):344-349.
Score: 0.027
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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: 0.027
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TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions. Am J Hum Genet. 2022 12 01; 109(12):2270-2282.
Score: 0.026
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Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder. Am J Hum Genet. 2022 11 03; 109(11):2068-2079.
Score: 0.026
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Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST. Mov Disord. 2022 12; 37(12):2440-2446.
Score: 0.026
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Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis. Genet Med. 2022 10; 24(10):2187-2193.
Score: 0.025
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A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode. Am J Hum Genet. 2022 09 01; 109(9):1713-1723.
Score: 0.025
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Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. Ann Neurol. 2022 08; 92(2):304-321.
Score: 0.025
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El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype. Clin Genet. 2022 05; 101(5-6):530-540.
Score: 0.025
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Variant-level matching for diagnosis and discovery: Challenges and opportunities. Hum Mutat. 2022 06; 43(6):782-790.
Score: 0.025
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Centers for Mendelian Genomics: A decade of facilitating gene discovery. Genet Med. 2022 04; 24(4):784-797.
Score: 0.025
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Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency. Genet Med. 2022 03; 24(3):631-644.
Score: 0.024
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Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses. Am J Med Genet A. 2022 03; 188(3):735-750.
Score: 0.024
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Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait. Am J Med Genet A. 2022 02; 188(2):648-657.
Score: 0.024
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PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data. Orphanet J Rare Dis. 2021 08 18; 16(1):365.
Score: 0.024
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Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies. Genet Med. 2021 09; 23(9):1715-1725.
Score: 0.023
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Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability. Hum Mutat. 2021 06; 42(6):762-776.
Score: 0.023
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Heterozygous variants in SPTBN1 cause intellectual disability and autism. Am J Med Genet A. 2021 07; 185(7):2037-2045.
Score: 0.023
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Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature. J Genet Genomics. 2021 05 20; 48(5):396-402.
Score: 0.023
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Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome. Hum Mutat. 2021 05; 42(5):577-591.
Score: 0.023
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MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Ann Neurol. 2021 04; 89(4):828-833.
Score: 0.023
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Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Am J Med Genet A. 2021 01; 185(1):119-133.
Score: 0.022
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Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases. Hum Mutat. 2020 12; 41(12):2094-2104.
Score: 0.022
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Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network. Mol Genet Genomic Med. 2020 10; 8(10):e1397.
Score: 0.022
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Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy. Ann Clin Transl Neurol. 2020 05; 7(5):610-627.
Score: 0.022
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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: 0.021
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Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). Am J Med Genet A. 2020 01; 182(1):38-52.
Score: 0.021
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A Genocentric Approach to Discovery of Mendelian Disorders. Am J Hum Genet. 2019 11 07; 105(5):974-986.
Score: 0.021
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Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders. Am J Hum Genet. 2019 11 07; 105(5):1005-1015.
Score: 0.021
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TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease. Hum Mutat. 2020 01; 41(1):182-195.
Score: 0.021
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Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities. Am J Med Genet A. 2019 10; 179(10):2056-2066.
Score: 0.021
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Exome sequencing reveals a novel variant in NFX1 causing intracranial aneurysm in a Chinese family. J Neurointerv Surg. 2020 Feb; 12(2):221-226.
Score: 0.021
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Reanalysis of Clinical Exome Sequencing Data. N Engl J Med. 2019 06 20; 380(25):2478-2480.
Score: 0.020
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Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med. 2019 03; 21(3):663-675.
Score: 0.019
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A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo. Am J Med Genet A. 2018 09; 176(9):1897-1909.
Score: 0.019
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Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. Hum Genet. 2018 Sep; 137(9):689-703.
Score: 0.019
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The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. Hum Genet. 2018 Jul; 137(6-7):553-567.
Score: 0.019
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Phenotypic expansion illuminates multilocus pathogenic variation. Genet Med. 2018 12; 20(12):1528-1537.
Score: 0.019
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The phenotypic spectrum of Xia-Gibbs syndrome. Am J Med Genet A. 2018 06; 176(6):1315-1326.
Score: 0.019
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Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. Am J Hum Genet. 2018 05 03; 102(5):985-994.
Score: 0.019
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A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. Am J Hum Genet. 2017 Feb 02; 100(2):343-351.
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: 0.017
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Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. BMC Med Genomics. 2016 07 19; 9(1):42.
Score: 0.017
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A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics. Genome Med. 2016 Feb 02; 8(1):13.
Score: 0.016