and neonatal diseases and abnormalities

  • Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly
    Ichrak Drissi, Emily Fletcher, Ranad Shaheen, Michael Nahorski, Amal M Alhashem, Steve Lisgo, Alberto Fernández-Jaén, Katherine Schon, Kalthoum Tlili-Graiess, Sarah F Smithson, Susan Lindsay, Hayley J Sharpe, Fowzan S Alkuraya, Geoff Woods
  • Adult phenotype of KCNQ2 encephalopathy
    Stephanie Boets, Katrine M Johannesen, Anne Destree, Filippo Manti, Georgia Ramantani, Gaetan Lesca, Laurent Vercueil, Mary Kay Koenig, Pasquale Striano, Rikke Steensbjerre Møller, Edward Cooper, Sarah Weckhuysen
  • Refining the mutational spectrum and gene–phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study
    Sara Nuovo, Alessia Micalizzi, Romina Romaniello, Filippo Arrigoni, Monia Ginevrino, Antonella Casella, Valentina Serpieri, Stefano D'Arrigo, Marilena Briguglio, Grazia Gabriella Salerno, Sara Rossato, Stefano Sartori, Vincenzo Leuzzi, Roberta Battini, Bruria Ben-Zeev, Claudio Graziano, Marisol Mirabelli Badenier, Vesna Brankovic, Nardo Nardocci, Ronen Spiegel, Danijela Petković Ramadža, Giovanni Vento, Itxaso Marti, Alessandro Simonati, Savina Dipresa, Elena Freri, Tommaso Mazza, Maria Teresa Bassi, Luca Bosco, Lorena Travaglini, Ginevra Zanni, Enrico Silvio Bertini, Nicola Vanacore, Renato Borgatti, Enza Maria Valente
  • Universal germline testing among patients with colorectal cancer: clinical actionability and optimised panel
    Wu Jiang, Lin Li, Chuan-Feng Ke, Wei Wang, Bin-Yi Xiao, Ling-Heng Kong, Jing-Hua Tang, Yuan Li, Xiao-Dan Wu, Ying Hu, Wei-Hua Guo, Si-Zhen Wang, De-Sen Wan, Rui-Hua Xu, Zhi-Zhong Pan, Pei-Rong Ding
  • DDX58(RIG-I)-related disease is associated with tissue-specific interferon pathway activation
    Lev Prasov, Brenda L Bohnsack, Antonette S El Husny, Lam C Tsoi, Bin Guan, J Michelle Kahlenberg, Edmundo Almeida, Haitao Wang, Edward W Cowen, Adriana A De Jesus, Priyam Jani, Allison C Billi, Sayoko E Moroi, Rachael Wasikowski, Izabela Almeida, Luciana N Almeida, Fernando Kok, Sarah J Garnai, Shahzad I Mian, Marcus Y Chen, Blake M Warner, Carlos R Ferreira, Raphaela Goldbach-Mansky, Sun Hur, Brian P Brooks, Julia E Richards, Robert B Hufnagel, Johann E Gudjonsson
  • Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH
    Tiana M Scott, Ian M Campbell, Andres Hernandez-Garcia, Seema R Lalani, Pengfei Liu, Chad A Shaw, Jill A Rosenfeld, Daryl A Scott