New Quarterly Data Reports – April 2024

Our April 2024 quarterly data reports are now available, showcasing updated information on 53 genetic communities, including 9 new groups: 2p16.3 deletion, NRXN1, 5p deletion, ATRX, CLCN4, FOXP1, GRIN1, KDM6B and KMT2E.

These comprehensive reports are made richer by insights from all the families participating in our research program, and we deeply appreciate each contribution. Additionally, this release includes a special spotlight on ‘Where in the world are Simons Searchlight families?’ Explore the global geographical distribution of our participants.

Why is completing research surveys important? By consistently contributing data, our participants actively contribute to new discoveries about their condition. Together, we can turn limited knowledge into meaningful insights that benefit participants, their families, and future generations.

Check out the genetic communities that received quarterly reports below. These reports are generated for communities with at least 10 completed medical history surveys.

– 15q11.2 BP1-BP2 deletion
– 16p11.2 deletion
– 16p11.2 duplication
– 16p12.2 deletion
– 16p13.11 deletion
– 1q21.1 deletion
– 1q21.1 duplication
– 2p16.3 deletion
– 5p deletion
– 7q11.23 duplication
– 17q21.31 deletion
– ADNP
– ANKRD11
– ARID1B
– ASXL3
– ATRX
– CHAMP1
– CHD2
– CHD8
– CLCN4
– CSNK2A1
– CSNK2B
– CTNNB1
– CUL3
– Distal 16p11.2 deletion
– Distal 16p11.2 duplication
– DLG4
– DYNC1H1
– DYRK1A
– FOXP1
– GRIN1
– GRIN2B
– HIVEP2
– HNRNPH2
– IRF2BPL
– KANSL1
– KDM6B
– KMT2E
– MED13L
– MEF2C
– NRXN1
– PACS1
– PPP2R1A
– PPP2R5D
– PPP3CA
– SCN2A
– SETBP1
– SETD5
– SLC6A1
– STXBP1
– SYNGAP1
– TBR1
– TRIO
– WDFY3

Ready to explore? Find your genetic community and dive into these insightful data reports now.

Want to be included in the next quarterly report? Don’t forget to visit your Simons Searchlight dashboard to complete your medical history survey and other research surveys!