María Palomares‐Bralo

Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of <i>EHMT1</i> haploinsufficiency to the core phenotype

Tjitske Kleefstra, W. A. van Zelst‐Stams, Willy M. Nillesen et al. · Journal of Medical Genetics · 2009 · 257 citations

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Przemysław Szafrański, Tomasz Gambin, Avinash V. Dharmadhikari et al. · Human Genetics · 2016 · 155 citations · Full text

Pulmonary Circulation, Vascular Malformation, Pathology +4

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

Michael A. Levy, Haley McConkey, Jennifer Kerkhof et al. · Human Genetics and Genomics Advances · 2021 · 149 citations · Full text

Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

Michael A. Levy, Raissa Relator, Haley McConkey et al. · Human Mutation · 2022 · 76 citations · Full text

Epigenetic Change, Genetics, Dna Methylation +17

<i>FOXP1</i>-related intellectual disability syndrome: a recognisable entity

Ilse Meerschaut, Daniel Rochefort, Nicole Revençu et al. · Journal of Medical Genetics · 2017 · 72 citations · Full text