IVNS1ABP LoF variants are (not) associated with IMD70 ?

NUAK1 mutations causes a syndrome with ID and craniofacial anomalies

An ALX1 enhanceropathy

PDIA6 mutations as a cause of liver fibrosis and predisposition to HCC development

FBXO22 deficiency causes a congenital syndrome with multisystem involvement

IL11-deficiency delineates novel syndrome with bone and craniofacial anomalies

C1orf127-deficiency as a cause of heterotaxy and congenital heart disease

DRG1-deficiency as a cause of ID & microcephaly

Hallermann-Streiff syndrome goes epigenetic.

A Progeroid Syndrome Caused by RAF1 deficiency Underscores the importance of RTK signaling for Human Development

Samantha Wong, View ORCID ProfileYu Xuan Tan, Kiat Yi Tan, View ORCID ProfileAbigail Loh, Zainab Aziz, Engin Özkan, View ORCID ProfileHülya Kayserili, View ORCID ProfileNathalie Escande-Beillard, Bruno REVERSADE

https://www.medrxiv.org/content/10.1101/2022.02.20.22271260v1

DPP9 deficiency: an inflammasomopathy which can be rescued by lowering NLRP1/IL-1 signaling

Cassandra R. HARAPAS, Kim ROBINSON, Kenneth LAY, Jasmine WONG, Annick RAAS-ROTHSCHILD, Pawat LAOHAMONTHONKUL, Bertrand BOISSON, Scott B. DRUTMAN, Mark GORRELL, Devon BONNER, Chien-Hsiung YU, Sophia DAVIDSON, Hulya KAYSERILI, Nevin HATIPOGLU, Jean Laurent CASANOVA, Jonathan A. BERNSTEIN, Franklin L Zhong, Seth L Masters, Bruno REVERSADE

MedRxiv doi: https://doi.org/10.1101/2021.01.31.21250067

INTS13 Mutations Causing a Developmental Ciliopathy Disrupt Integrator Complex Assembly

Lauren G. Mascibroda, Mohammad Shboul, Nathan D. Elrod, Laurence Colleaux, Hanan Hamamy, Kai-Lieh Huang, Natoya Peart, Moirangthem Kiran Singh, Hane Lee, Barry Merriman, Jeanne N. Jodoin, Laura A. Lee, Raja Fathalla, Baeth Al-Rawashdeh, Osama Ababneh, Mohammad El-Khateeb, Nathalie Escande-Beillard, Stanley F. Nelson, Yixuan Wu, Liang Tong, Linda J. Kenney, William K. Russell, Jeanne Amiel, Bruno Reversade, Eric J. Wagner

bioRxiv 2020.07.20.209130; doi: https://doi.org/10.1101/2020.07.20.209130