Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

Erfan Aref‐Eshghi, Jennifer Kerkhof, Victor P. Pedro, +65

The American Journal of Human Genetics

Neurodevelopmental DisordersMendelian DisorderEpigenetic ChangeGeneticsDna Methylation +9

Mutation Update for Kabuki Syndrome Genes<i>KMT2D</i>and<i>KDM6A</i>and Further Delineation of X-Linked Kabuki Syndrome Subtype 2

Nina Bögershausen, Vincent Gâtinois, Vera Riehmer, +38

Human Mutation

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

Michael A. Levy, Haley McConkey, Jennifer Kerkhof, +83

Human Genetics and Genomics Advances

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

Michael A. Levy, Raissa Relator, Haley McConkey, +89

Human Mutation

Epigenetic ChangeGeneticsDna MethylationGenetic SyndromesSynaptic Signaling +15

Gene expression profiling of Spodoptera frugiperda hemocytes and fat body using cDNA microarray reveals polydnavirus-associated variations in lepidopteran host genes transcript levels

Mouna Barat‐Houari, Frédérique Hilliou, F-X Jousset, +9

BMC Genomics

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

Mouna Barat‐Houari, Bruno Dumont, Aurélie Fabre, +52

European Journal of Human Genetics

Mendelian DisorderGenetic DisorderGeneticsGenetic EpidemiologyPathology +5

Linkage and association studies between the proopiomelanocortin (POMC) gene and obesity in caucasian families

Jérôme Delplanque, Mouna Barat‐Houari, Christian Dina, +6

Diabetologia

ObesityMetabolic SyndromeChildhood ObesityGenetic DeterminantGenetics +4

Analysis of sequence variability in the CART gene in relation to obesity in a Caucasian population

Audrey Guérardel, Mouna Barat‐Houari, Francis Vasseur, +13

BMC Genetics

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

Erfan Aref‐Eshghi, Jennifer Kerkhof, Victor P. Pedro, +66

The American Journal of Human Genetics

Neurodevelopmental DisordersMendelian DisorderEpigenetic ChangeGeneticsDna Methylation +9

B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation

Kévin Yauy, Frédéric Tran Mau‐Them, Marjolaine Willems, +17

Genetics in Medicine

B3gat3-related DisorderBone FragilitySclerostinBone Morphogenic ProteinCraniofacial Disorder +5