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Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology2022 Human Genetics and Genomics Advances article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Andrew K. Sobering, Laura M. Bryant, Dong Li, Julie M. McGaughran, Isabelle Maystadt, Stéphanie Moortgat, +32 more
26citations -
The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patients2023 Clinical Dysmorphology article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Rebecca L. Poole, Emilia K. Bijlsma, Gunnar Houge, Gabriela E. Jones, Violeta Mikštienė, Eglė Preikšaitienė, +1 more
5citations -
Overgrowth-associated partial trisomy 15q24.3-qter and mosaic 11p15.5 duplication involving Silver-Russell region in a patient with lateralized asymmetry and developmental delay2021 Clinical Dysmorphology article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting
Felicitas Maier, Michael Christoph Frühwald, Uwe Heinrich, Mareike Schimmel, Dagmar Wahl, Thomas Eggermann
1citations
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