respiratory tract diseases

Cystic fibrosis carrier screening in Australia: comparing sequencing and targeted panels across diverse ancestries
Eric Lee, Kaylee Orton

Journal of Medical Genetics Mar 2025, 62 (3) 219-226; DOI: 10.1136/jmg-2024-110365
Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia
Lucie Thomas, Laurence Cuisset, Jean-Francois Papon, Aline Tamalet, Isabelle Pin, Rola Abou Taam, Catherine Faucon, Guy Montantin, Sylvie Tissier, Philippe Duquesnoy, Florence Dastot - Le Moal, Bruno Copin, Nathalie Carion, Bruno Louis, Sandra Chantot-Bastaraud, Jean-Pierre Siffroi, Rana Mitri, André Coste, Estelle Escudier, Guillaume Thouvenin, Serge Amselem, Marie Legendre

Journal of Medical Genetics Jun 2024, 61 (6) 595-604; DOI: 10.1136/jmg-2023-109700
Pulmonary function and structure abnormalities in children and young adults with osteogenesis imperfecta point to intrinsic and extrinsic lung abnormalities
Bernadette R Gochuico, Mahin Hossain, Sara K Talvacchio, Mei Xing G Zuo, Mark Barton, An Ngoc Dang Do, Joan C Marini

Journal of Medical Genetics Nov 2023, 60 (11) 1067-1075; DOI: 10.1136/jmg-2022-109009
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

Journal of Medical Genetics Mar 2022, 59 (3) 270-278; DOI: 10.1136/jmedgenet-2020-107317

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respiratory tract diseases