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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.

Available in

BioRxiv | MedRxiv


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

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

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