A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

Céline Helsmoortel, Anneke T. Vulto-van Silfhout, Bradley P. Coe, +22

Nature Genetics

Neurodevelopmental DisordersSyndromic AutismGenetic DisorderGeneticsPsychiatric Genetics +7

International Registry of Patients Carrying <i>TGFBR1</i> or <i>TGFBR2</i> Mutations

Guillaume Jondeau, Jacques Ropers, Ellen S. Regalado, +25

Circulation Cardiovascular Genetics

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Emily C. Oates, Kristi Jones, Sandra Donkervoort, +81

Annals of Neurology

Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)

Edwin P. Kirk, Royston Ong, Kirsten Boggs, +24

European Journal of Human Genetics

BiologyGenetic TestingGene SelectionMedicineGenetics +13

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, +114

Nature

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components

Marianne Rohrbach, Helen Spencer, Louise F. Porter, +11

Molecular Genetics and Metabolism

The transcriptional regulator<i>ADNP</i>links the BAF (SWI/SNF) complexes with autism

Geert Vandeweyer, Céline Helsmoortel, Anke Van Dijck, +17

American Journal of Medical Genetics Part C Seminars in Medical Genetics

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Alicia B. Byrne, Peer Arts, Thuong Ha, +198

Nature Medicine

JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome

Eline A. Verberne, Shuxiang Goh, Jade England, +37

Genetics in Medicine

Neurodevelopmental DisordersDown SyndromeRare DiseasesDevelopmental BiologyJarid2 Haploinsufficiency +7

Mycoplasma pneumonia with antiphospholipid antibodies and a cardiac thrombus

Madhura Bakshi, Chetna Khemani, V Vishwanathan, +2

Lupus

Left Atrial ThrombusMycoplasma PueumoniaFour-year Old ChildPathologyRespiratory Infection +3