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Chromosomal disorders

A new era in aneuploidy screening: cfDNA testing in >30,000 multifetal gestations: Experience at one clinical laboratory

Brittany Dyr, Theresa Boomer, [ ... ], Ron M. McCullough

Elimination of protein aggregates prevents premature senescence in human trisomy 21 fibroblasts

Nobutoshi Nawa, Katsuya Hirata, [ ... ], Keiichi Ozono

Cost and efficacy comparison of prenatal recall and reflex DNA screening for trisomy 21, 18 and 13

Jonathan Paul Bestwick, Nicholas John Wald

The contingent use of cell-free fetal DNA for prenatal screening of trisomies 21, 18, 13 in pregnant women within a national health service: A budget impact analysis

Federico Prefumo, Davide Paolini, [ ... ], Lamberto Camurri

An efficient method for noninvasive prenatal diagnosis of fetal trisomy 13, trisomy 18, and trisomy 21

Xiaohan Sun, Jianbo Lu, Xu Ma

Plasma neurofilament light chain: A potential prognostic biomarker of dementia in adult Down syndrome patients

Makiko Shinomoto, Takashi Kasai, [ ... ], Takahiko Tokuda

Effects of mavoglurant on visual attention and pupil reactivity while viewing photographs of faces in Fragile X Syndrome

David Hessl, Danielle Harvey, [ ... ], Elizabeth Berry‐Kravis

Out-of-pocket expenditures and care time for children with Down Syndrome: A single-hospital study in Mexico City

Silvia Martínez-Valverde, Guillermo Salinas-Escudero, [ ... ], Ma. Vanessa Aldaz-Rodríguez

Influence of long and short arms of X chromosome on maxillary molar crown morphology

Mitsuko Nakayama, Osamu Kondo, [ ... ], Raija Lähdesmäki

Social knowledge and social reasoning abilities in a neurotypical population and in children with Down syndrome

Koviljka Barisnikov, Fleur Lejeune

Quantifier comprehension is linked to linguistic rather than to numerical skills. Evidence from children with Down syndrome and Williams syndrome

Sarah Dolscheid, Martina Penke

An investigation of the determinants of quality of life in adolescents and young adults with Down syndrome

Fatma Haddad, Jenny Bourke, Kingsley Wong, Helen Leonard

MeDIP combined with in-solution targeted enrichment followed by NGS: Inter-individual methylation variability of fetal-specific biomarkers and their implementation in a proof of concept study for NIPT

Anna Keravnou, Marios Ioannides, [ ... ], Philippos C. Patsalis

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