Results 211 to 220 of about 54,834 (268)

Six New Cases of 22q13.2 Gain Including TFC20: First Report of Triplication and Smallest Duplication Associated With Neurodevelopmental Delays

Clinical Genetics, EarlyView.
This study reports six new cases of 22q13.2 duplication and triplication, including the TCF20 gene, associated with neurodevelopmental disorders and various morphological and systemic abnormalities. The findings suggest a variable expressivity, but their complete penetrance remains uncertain compared to well‐established loss‐of‐function variants ...
Etienne Bizot, Dima Jouni, Caroline Rooryck, Juliet Taylor, Marine Legendre, Lorelei Charbonnier, Julia Metreau, Emmanuelle Benaloun, Audrey Pinson, Geneviève Quenum, Jérôme Bouligand, Gérard Tachdjian, Philippe Labrune, Lucie Tosca   +13 more
wiley   +1 more source

Multi‐Ancestry Epigenome‐Wide Association Study of Asthma Exacerbations

Allergy, EarlyView.
Elena Martin‐Gonzalez, Javier Perez‐Garcia, Mario Martin‐Almeida, Jonathan Witonsky, Celeste Eng, Scott Huntsman, Donglei Hu, Fabian Lorenzo‐Diaz, Ruperto González‐Pérez, José M. Hernández‐Pérez, Paloma Poza‐Guedes, Olaia Sardón‐Prado, Inmaculada Sánchez‐Machín, Elena Mederos‐Luis, Paula Corcuera‐Elosegui, Jesús Villar, Jose Rodriguez‐Santana, Elad Ziv, Esteban G. Burchard, Maria Pino‐Yanes   +19 more
wiley   +1 more source

Evaluating the Clinical Utility of Genomic Sequencing After Perinatal Death

Clinical Genetics, EarlyView.
Genomic sequencing after perinatal death is shown to provide meaningful improvements in counselling, recurrence risk estimation, and family planning—even when a genetic diagnosis is not found. ABSTRACT Following termination of pregnancy for fetal anomaly or unexplained perinatal death (PND), clinical geneticists advise on possible genetic causes and ...
Camille M. Schubert, Matilda R. Jackson, Christopher P. Barnett, Hamish S. Scott, Thomas Sullivan, Stephen Goodall, Tracy Merlin, the Genomic Autopsy Study Research Network, Abhi Kulkarni, Adrian Charles, Alan Ma, Amanda Engel, Anand Vasudevan, Andrew Paul Fennell, Anita Gorrie, Anna Le Fevre, Annabelle Enriquez, Ari Horton, Arjan Bouman, Benjamin Kamien, Bethany Wadling, Bhavya Vora, Bruce Hopper, Cathryn Poulton, Christopher Richmond, Clara W.T. Chung, David J Amor, Di Milnes, Krzesinski Emma, Erica Brown, Fiona Cunningham, Gargi Pathak, George McGillivray, Giorgina Maxwell, Helen Curd, Himanshu Goel, Hugh McCarthy, Jan Liebelt, Janene Davies, Jarrad Dearman, Jason R Pinner, Jaye Richardson, Jennie Slee, Jennifer Rigby, Joanna Perry‐Keene, Jonathan Rodgers, Kaitlin McGinnis, Karin Kassahn, Kate Riley, Kerrie Smyth, Krithika Murali, Kunal Verma, Kushani Jayasinghe, Lara Fitzgerald, Laura Barth, Laura St Clair, Lesley McGregor, Lisa Smith, Lisa Worgan, Lucas De Jong, Lucy Kevin, Lyndal Douglas, Mahalia SB Frank, Margit Shah, Marni Russell, Mary‐Clare Sherlock, Mary‐Louise Freckman, Mathew Wallis, Matthew F Hunter, Matthew Regan, Megan Higgins, Michael Fahey, Michelle Ward, Minmin Li, Miranda Lewit‐Mendes, Molly Krause, Nicholas Pachter, Nikki Gelfand, Noelia Nunez Martinez, Peer Arts, Prue Dunstan, Rachel Pope‐Couston, Renae Parker, Renuka Sekar, Richard Lin, Ron Fleischer, Sachini Poogoda, Sarah A Sandaradura, Shannon LeBlanc, Sheridan O’Donnell, Shuxiang Goh, Sinead O’Sullivan, Stephanie Badman, Sulekha Rajagopalan, Suzanna EL Temple, Suzanne Sallevelt, Tahlee Minto, Tanya Lam, Tara Darmody, Tenielle Davis, Thuong Ha, Tiffany Foo, Yael Prawer   +102 more
wiley   +1 more source

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes

Clinical Genetics, EarlyView.
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari, Jade Charbonneau, Valancy Miranda, Khadijé Jizi, Marie‐Ange Delrue, Patricia Egerszegi, Isabelle Thiffault, Philippe M. Campeau   +7 more
wiley   +1 more source

MAP1B Variants Disrupt Neuronal Migration: Insights From Three Novel Families

Clinical Genetics, EarlyView.
Pathogenic variants in MAP1B have recently emerged as a cause of neurodevelopmental disorders characterized by intellectual disability, epilepsy, and cortical malformations, including periventricular nodular heterotopia (PVNH) and polymicrogyria (PMG).
Jessica Archer, Matt Edwards, Thomas Macdougall, Anne Baxter, Himanshu Goel   +4 more
wiley   +1 more source

Prenatal Diagnosis of MSL2‐Related Ventriculomegaly in Association With an Inherited 15q13 Microduplication

Clinical Genetics, EarlyView.
We hereby report the first prenatal diagnosis of MSL2‐related pathology, namely ventriculomegaly. Favorable 11‐month follow‐up illustrates the challenges in predicting postnatal outcomes for genetic anomalies linked to recently characterized phenotypes with limited documented cases.
Omar Zgheib, Thomas Rio Frio, Jean‐Marie Pellegrinelli, Stefania Gimelli, Caterina Marconi, Delphine Le Mercier, Monica Rebollo Polo, Céline Habre, Joël Fluss, Russia Ha‐Vinh Leuchter, Marc Abramowicz, Rosalinda Giannini, Siv Fokstuen   +12 more
wiley   +1 more source

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics

Clinical Genetics, EarlyView.
To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum, Maya Slovik, Shamir Zenvirt, Ilana Livyatan, Israel Altman, Shiri Gershon, Jonathan Rips, Hagit Daum, Chaggai Rosenbluh, Orly Elpeleg, Vardiella Meiner, Ayala Frumkin, Hagar Mor‐Shaked, Tamar Harel   +13 more
wiley   +1 more source

Intraventricular mass in a 49‐year‐old male

Brain Pathology, EarlyView.
Connor R. Zuraski, Donald P. Pizzo, Jessica D. Schulte, Vanessa S. Goodwill   +3 more
wiley   +1 more source

Genetic Landscape of Robin Sequence: A Systematic Review

Clinical Genetics, EarlyView.
This systematic review summarizes the genetic landscape of Robin sequence (RS), highlighting key differences between isolated and non‐isolated forms and emphasizing the role of up‐to‐date genetic testing for diagnosis and clinical management. ABSTRACT Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper ...
Shirley van de Velde, Aebele B. Mink van der Molen, Augusta M. A. Lachmeijer, Daan de Leijer, Jeroen J. Smits, Maarten P. G. Massink, Sarah L. Versnel, Marie‐José H. van den Boogaard, Emma C. Paes   +8 more
wiley   +1 more source

Prenatal diagnosis in fetal right aortic arch using chromosomal microarray analysis and whole exome sequencing: a Chinese single-center retrospective study. [PDF]

Mol Cytogenet
Zhang L, Huang R, Zhou H, Lin X, Guo F, Jing X, Zhang Y, Li F, Li F, Yu Q, Wang D, Chen G, Fu F, Pan M, Han J, Li D, Li R.   +16 more
europepmc   +1 more source