What's cookin'.....
IVNS1ABP deficiency as the cause of a new progeroid disease
NUAK1 mutations causes a syndrome with ID and craniofacial anomalies
PYCR1 Levels Track with Premature and Chronological Skin Aging
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
LATS1-deficiency as a cause of ID & hearing loss
Hallermann-Streiff syndrome goes epigenetic.
Available in
BioRxiv | MedRxiv
View ORCID ProfileKortessa Sotiropoulou, View ORCID ProfileSaniye Yumlu, View ORCID ProfileTomoko Hirano, View ORCID ProfileMichael Maier, View ORCID ProfileAbigail Loh, View ORCID ProfilePeh Fern Ong, Onn Siong Yim, Chunping Liu, View ORCID ProfileEmmanuel Vial, View ORCID ProfileUmut Altunoğlu, View ORCID ProfileSheela Nampoothiri, View ORCID ProfileDeepthi de Silva, View ORCID ProfileBjörn Fischer-Zirnsak, View ORCID ProfileHülya Kayserili, View ORCID ProfilePoh San Lai, View ORCID ProfileOliver Dreesen, View ORCID ProfileKenji Kabashima, View ORCID ProfileUwe Kornak, View ORCID ProfileNathalie Escande-Beillard, Bruno Reversade
https://www.medrxiv.org/content/10.1101/2023.05.24.23289766v1
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