Results 171 to 180 of about 22,467,747 (285)

Chromosome Microarray Analysis of 3832 Patients over 15 Years Confirms Genome-Wide Copy Number Variation in Patients with Developmental Disabilities Including Autism. [PDF]

Curr Issues Mol Biol
Chaval S, Tonk SS, Wilson GN, Tonk VS.
europepmc   +1 more source

Early‐Onset Parkinson's Disease with 22q11.2 Microdeletion and Pathogenic GBA1 Variant

Movement Disorders Clinical Practice, EarlyView.
Nikolai Gil D. Reyes, Daniel G. Di Luca, Ivan Martinez‐Valbuena, Erik Boot, Maria Corral, Ryan K.C. Yuen, Connie Marras, Anthony E. Lang, Anne S. Bassett   +8 more
wiley   +1 more source

Curating the Fetal Genome: Experience of the ClinGen Prenatal Gene Curation Expert Panel (GCEP)

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Expert prenatal focused gene‐disease curation is necessary to accurately inform clinical care in the setting of rapidly expanding prenatal genomic sequencing. Methods An international Prenatal Gene Curation Expert Panel assembled and systematically reviewed genes asserted to be associated with prenatal hydrops, stillbirth, or severe ...
Stephanie N. Galloway, Jessica L. Giordano, Carrie Shawber, Natalie Chandler, Lauren Westerfield, Prenatal GCEP Panel members, Ronald J. Wapner, Wendy Chung, Ignatia B. Van den Veyver, Shagun Aggarwal, Caitlin Baptiste, Brenna Boyd, Amanda Buchanan, Alicia Byrne, Imen Chakchouk, David Chitayat, Lyn Chitty, Pinal Dalwadi, Avinash Dharmadhikari, Lilian Downie, Stephanie Dukhovny, Mythily Ganapathi, Kelly Gilmore, Elena Greenfeld, Lylach Haizler‐Cohen, Vaidehi Jobanputra, Gabrielle Litteken, Hannah Perrin, Julie Ratliff, Rebecca Reimers, Erin Riggs, Teresa Sparks, Samantha Stover, Amanda Thomas‐Wilson, Leandra Tolusso, Neeta Vora, Tsegaselassie Workalemahu, Roni Zemet‐Lazar   +37 more
wiley   +1 more source

Clinical study of single nucleotide polymorphism-based chromosome microarray analysis in the etiological diagnosis of fetal congenital heart disease. [PDF]

Sci Rep
Zheng Y, Xue S, Ding G, Zhang L, Ding G.
europepmc   +1 more source

Genetic Investigation in Fetal Growth Restriction: An Integrated Approach for Clinical Practice

Prenatal Diagnosis, EarlyView.
ABSTRACT International guidelines recommend genetic testing when fetal growth restriction (FGR) accompanies structural anomalies, but recommendations for apparently isolated FGR remain variable, particularly regarding gestational age thresholds and the role of exome sequencing (ES). Interpretation is difficult because studies define FGR inconsistently,
Eran Ashwal, David Chitayat
wiley   +1 more source

Clinical application of chromosome microarray analysis and karyotyping in prenatal diagnosis in Northwest China. [PDF]

Front Genet
Xue S, Liu Y, Wang L, Zhang L, Chang B, Ding G, Dai P.   +6 more
europepmc   +1 more source

Diagnostic Yield of Sequencing in Prenatal Agenesis of the Corpus Callosum in a Well‐Phenotyped International Cohort

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the incremental diagnostic yield of sequencing in a large, well‐phenotyped international cohort of fetuses with prenatally diagnosed agenesis of the corpus callosum (ACC) and to identify associated genes and variants. Methods Retrospective multicenter cohort study of fetuses with a prenatal diagnosis of ACC undergoing ...
Lorraine Dugoff, Natalie Chandler, Stephanie Allen, Sarah A. Graham, Vicki Harrison, Anne McCabe, Anna de Burca, Audrey Smith, Erina Sasaki, Mairead Hagarty, Juliana S. Gebb, Shelly Soni, Sonika Agarwal, Beverly G. Coleman, Haley M. Crane, Mary E. Norton, Billie R. Lianoglou, Alex Gibbs, Lyn S. Chitty   +18 more
wiley   +1 more source

Copy Number Variants of Uncertain Significance by Chromosome Microarray Analysis from Consecutive Pediatric Patients: Reevaluation Following Current Guidelines and Reanalysis by Genome Sequencing. [PDF]

Genes (Basel)
Li W, Xie X, Chai H, DiAdamo A, Bistline E, Li P, Dai Y, Knight J, Avni-Singer AJ, Burger J, Ment L, Spencer-Manzon M, Zhang H, Wen J.   +13 more
europepmc   +1 more source

Free Fetal DNA Testing to Guide Early Intervention in the Management of the Kell Alloimmunized Pregnancy

Prenatal Diagnosis, EarlyView.
Kenneth J. Moise Jr, Thomas Trevett, Stephanie Moench, Erin Moise   +3 more
wiley   +1 more source

Fetal Intracranial Hemorrhage: What to Tell Expecting Parents?

Prenatal Diagnosis, EarlyView.
ABSTRACT To review the classification, epidemiology, etiology, prenatal diagnostic approach, and neurodevelopmental outcomes of fetal intracranial hemorrhage (ICH), and to provide clinicians with a practical, fetal‐specific framework for investigating and counseling families facing this diagnosis.
Shiri Shinar, Yada Kunpalin, Elka Miller
wiley   +1 more source