Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly

By sjmartinez • July 23, 2024

Huang Y, Jay KL, Huang AY, Wan J, Jangam SV, Chorin O, Rothschild A, Barel O, Mariani M, Iascone M, Xue H; Undiagnosed Diseases Network; Huang J, Mignot C, Keren B, Saillour V, Mah-Som AY, Sacharow S, Rajabi F, Costin C, Yamamoto S, Kanca O, Bellen HJ, Rosenfeld JA, Palmer CGS, Nelson SF, Wangler MF, Martinez-Agosto JA. Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly. Genet Med. 2024 Jul 18:101218. doi: 10.1016/j.gim.2024.101218. Epub ahead of print. PMID: 39036895.

Tags: Cardiology/Epi, epigenetic, H3K4 methylation, microcephaly, neurodevelopmental disorder, Publications, RBBP5

Characterizing longitudinal blood pressure trajectories in patients at high risk for de novo postpartum hypertension: A randomized controlled trial secondary analysis

Emeruwa UN, Sarker MR, Bello N, Jacobs M, Laurent LC, Teal EN, Wen T, Miller RS, Gyamfi-Bannerman C. Characterizing longitudinal blood pressure trajectories in patients[...]

Intracerebral Hemorrhage Outcomes After Reversal of Subtherapeutic Warfarin: Analysis of Data From GWTG-Stroke

LacKamp AN, Weber JM, Mac Grory BC, Caye AJ, Stenuf C, Smith EE, Daniels JD, Barkley TT, Messe SR, Alhanti B, Sheth KN, Blanco RG,[...]

SPARC: The Standardised Prostate-specific Membrane Antigen Positron Emission Tomography/Computed Tomography Analysis and Reporting Consensus: A Delphi Analysis

Herrmann K, Walz J, MacLennan S, Briganti A, Cornford P, Czernin J, Eiber M, Fanti S, Fendler WP, Fizazi K, Gafita A, Gillessen S, Goffin[...]