K. Brown

发表

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.

E. Bertini, M. Karayiorgou, S. Lalani, 2019, American journal of human genetics.

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

A. Verloes, S. Banka, T. Reimand, 2020, Genetics in Medicine.

A novel map of human p53 response elements uncovers evidence of selection pressures and variants similar to Li-Fraumeni Syndrome mutations

D. Barnes, P. Zhang, P. Van Loo, 2022, medRxiv.

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.

Douglas P. Larsen, D. Nickerson, M. Bamshad, 2018, American journal of human genetics.

Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.

D. Horn, X. Wang, C. Saunders, 2019, American journal of human genetics.

Philadelphia‐negative chronic myeloid leukaemia: detection by FISH of BCR‐ABL fusion gene localized either to chromosome 9 or chromosome 22

A. Green, E. Nacheva, D. Bloxham, 1994, British journal of haematology.

Rare SUZ12 variants commonly cause an overgrowth phenotype

Steven J. M. Jones, R. Weksberg, L. Bird, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants

M. Parker, J. Humberson, A. Vanlander, 2020, Clinical genetics.

Small duplication of chromosome (7)(p22.1p22.2) and consideration of a dup 7p syndrome critical region.

G. Scharer, B. Lunt, Jaffar Alfardan, 2011, Clinical dysmorphology.

Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders

W. Chung, S. Leal, F. Zou, 2021, Journal of Medical Genetics.

Male With Mosaicism for Supernumerary Ring X Chromosome: Analysis of Phenotype and Characterization of Genotype Using Array Comparative Genome Hybridization

G. Bellus, A. Tsai, K. Swisshelm, 2010, The Journal of craniofacial surgery.

Development and characterization of a Mantle Cell Lymphoma Cell Bank in the American Type Culture Collection

J. Connors, O. O’Connor, Michael E. Williams, 2015, Leukemia & lymphoma.

Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype

Melissa J. Davis, M. Bodén, S. Hediyeh-zadeh, 2021, Nature Communications.

De novo loss‐of‐function variant in PTDSS1 is associated with developmental delay

T. Balla, J. Pemberton, N. Sengupta, 2022, American journal of medical genetics. Part A.

REO1 and ROX1 are alleles of the same gene which encodes a transcriptional repressor of hypoxic genes in Saccharomyces cerevisiae

K. Kwast, R. O. Poyton, P. V. Burke, 1997, Current Genetics.

Analytical Validation and Clinical Utilization of the Oncomine Comprehensive Assay Plus Panel for Comprehensive Genomic Profiling in Solid Tumors

D. Pradhan, C. Dumur, J. Almenara, 2023, Journal of Molecular Pathology.