Last Updated: 09/26/2026
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Found 12 publications
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.
Journal: American journal of human genetics
Published: July 24, 2024
A novel syndrome associated with prenatal fentanyl exposure.
Journal: Genetics in medicine open
Published: June 26, 2023
Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors.
Journal: AJNR. American journal of neuroradiology
Published: February 23, 2022
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Journal: American journal of medical genetics. Part A
Published: September 28, 2020
Inherited intragenic PBX1 deletion: Expanding the phenotype.
Journal: American journal of medical genetics. Part A
Published: June 23, 2020
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.
Journal: Science advances
Published: May 21, 2020
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.
Journal: American journal of human genetics
Published: August 20, 2017
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
Journal: Genome medicine
Published: April 25, 2017
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.
Journal: European journal of human genetics : EJHG
Published: March 12, 2017
A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.
Journal: American journal of medical genetics. Part A
Published: April 12, 2016
Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 22, 2015
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Last Updated: 09/26/2026