REBECCA LITTLEJOHN to Humans
This is a "connection" page, showing publications REBECCA LITTLEJOHN has written about Humans.
Connection Strength
0.094
-
Parental Communication and Experiences and Knowledge of Adolescent Siblings of Children with 22q11.2 Deletion Syndrome. J Genet Couns. 2015 Oct; 24(5):752-9.
Score: 0.007
-
Comparing the Diagnostic Yield of Germline Exome Versus Panel Sequencing in the Diverse Population of the Texas KidsCanSeq Pediatric Cancer Study. JCO Precis Oncol. 2024 Sep; 8:e2400187.
Score: 0.006
-
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: 0.006
-
Improving access to exome sequencing in a medically underserved population through the Texome Project. Genet Med. 2024 06; 26(6):101102.
Score: 0.006
-
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly. Am J Hum Genet. 2023 03 02; 110(3):499-515.
Score: 0.006
-
Access to clinically indicated genetic tests for pediatric patients with Medicaid: Evidence from outpatient genetics clinics in Texas. Genet Med. 2023 03; 25(3):100350.
Score: 0.006
-
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities. Genet Med. 2023 01; 25(1):135-142.
Score: 0.006
-
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: 0.006
-
Outcomes of prior authorization requests for genetic testing in outpatient pediatric genetics clinics. Genet Med. 2021 05; 23(5):950-955.
Score: 0.005
-
Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency. Mol Genet Metab. 2020 05; 130(1):49-57.
Score: 0.005
-
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: 0.005
-
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: 0.004
-
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nat Genet. 2017 Oct; 49(10):1529-1538.
Score: 0.004
-
DNM1 encephalopathy: A new disease of vesicle fission. Neurology. 2017 Jul 25; 89(4):385-394.
Score: 0.004
-
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: 0.004
-
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation. Am J Hum Genet. 2017 Jan 05; 100(1):91-104.
Score: 0.004
-
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. Am J Hum Genet. 2016 09 01; 99(3):720-727.
Score: 0.004
-
Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment. Hum Mutat. 2016 08; 37(8):786-93.
Score: 0.004
-
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. Hum Genet. 2016 May; 135(5):569-586.
Score: 0.004