What's cookin'.....

IVNS1ABP LoF variants are (not) associated with IMD70 ?

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


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


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