Search Results - "Sikkema-Raddatz B"

Next-generation newborn screening: feasibility of combined genetic and biochemical testing for 95 treatable inherited metabolic disorders.

Authors: Veldman A Arar CE Kiewiet MBG et al.

Source: Metabolomics : Official journal of the Metabolomic Society [Metabolomics] 2026 Jun 25; Vol. 22 (4). Date of Electronic Publication: 2026 Jun 25.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer Country of Publication: United States NLM ID: 101274889 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-3890 (Electronic) Linking ISSN: 15733882 NLM ISO Abbreviation: Metabolomics Subsets: MEDLINE

Confirmation of Exome Sequencing Results Using Sanger Sequencing—Considerations in a Low‐Resource Setting.

Authors: Louw, Nadja Schnell, Samantha Molatoli, Mhlekazi et al.

Source: Molecular Genetics & Genomic Medicine. May2026, Vol. 14 Issue 5, p1-9. 9p.

Rare diseases' genetic newborn screening as the gateway to future genomic medicine: the Screen4Care EU-IMI project.

Authors: Ferlini, Alessandra Gross, Edith Sky Garnier, Nicolas et al.

Source: Orphanet Journal of Rare Diseases. 10/4/2023, Vol. 18 Issue 1, p1-4. 4p.

Improving newborn screening accuracy through genome sequencing, targeted metabolomics, and machine learning.

Authors: Xie, Yuhan Peng, Gang Tikhonova, Irina et al.

Source: BMC Medical Genomics. 11/19/2025, Vol. 18 Issue 1, p1-10. 10p.

Analysis of Prenatal Diagnosis and Pregnancy Decisions of 767 Singleton Pregnancies With Positive Prenatal Cell‐Free DNA Screening Results in Southwest China.

Authors: Chen, Yun Lai, Yunli Xu, Fuben et al.

Source: Journal of Pregnancy. 11/12/2025, Vol. 2025, p1-8. 8p.

Sanger validation of WGS variants.

Authors: Kopernik, Arina Sayganova, Mariia Zobkova, Gaukhar et al.

Source: Scientific Reports. 1/29/2025, Vol. 15 Issue 1, p1-6. 6p.

Allogeneic Hematopoietic Stem Cell Transplantation for Acute Myeloid Leukemia With a Germline DDX41 Mutation.

Authors: Yoshida, Shuro Semba, Yuichiro Takashima, Shuichiro et al.

Source: Case Reports in Hematology. 11/1/2024, Vol. 2024, p1-6. 6p.

Nablus mask-like facial syndrome: An airway nightmare.

Authors: Madhu, Mahesh Rajan, Sunil Haleel, Fazil

Source: Journal of Anaesthesiology Clinical Pharmacology. Jul-Sep2026, Vol. 42 Issue 3, p445-446. 2p.

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.

Authors: Vidal, Silvia Brandi, Núria Pacheco, Paola et al.

Source: Scientific Reports. 12/1/2017, Vol. 7 Issue 1, p1-11. 11p.

Probe‐capture targeted next‐generation sequencing: A novel approach for pathogen and antimicrobial resistance detection in sepsis.

Authors: Ravi, Chitra Irwin, Adam D. Harris, Patrick N. A.

Source: Clinical & Translational Discovery. Aug2025, Vol. 5 Issue 4, p1-6. 6p.

Application of RNA-Based Next-Generation Sequencing Fusion Assay for Hematological Malignancies.

Authors: Fei, Fei Telatar, Milhan Tomasian, Vanina et al.

Source: International Journal of Molecular Sciences. Jan2025, Vol. 26 Issue 2, p435. 13p.

Language Profiles of School-Age Children With 16p11.2 Copy Number Variants in a Clinically Ascertained Cohort.

Authors: Verbesselt, Jente Breckpot, Jeroen Zink, Inge et al.

Source: Journal of Speech, Language & Hearing Research. Nov2024, Vol. 67 Issue 11, p4487-4503. 17p.

Subject Terms: *Communicative competence, *Intellect, *Academic medical centers, *Data analysis, *Attention-deficit hyperactivity disorder, *Psychology of school children, *Phonological awareness, *Autism, *Verbal behavior testing, *Longitudinal method, *Speech evaluation, *Asperger's syndrome, *Comparative studies, *Vocabulary, *Hearing disorders, *Special education, *Language acquisition, *Articulation (Speech), Cross-sectional method, Child psychopathology, Research funding, T-test (Statistics), Premature infants, Interviewing, Questionnaires, Sex distribution, Chromosome abnormalities, Descriptive statistics, Mann Whitney U Test, Social skills, Statistics, Early diagnosis, Confidence intervals, Data analysis software, Phenotypes, Comorbidity, Social classes

Geographic Terms: Belgium

KF-NIPT: K-mer and fetal fraction-based estimation of chromosomal anomaly from NIPT data.

Authors: Kim, Dongin Sohn, Ji Yeon Cho, Jin Hee et al.

Source: BMC Bioinformatics. 5/22/2025, Vol. 26 Issue 1, p1-7. 7p.

Clinical Presentation, Genetics, and Laboratory Testing with Integrated Genetic Analysis of Molecular Mechanisms in Prader–Willi and Angelman Syndromes: A Review.

Authors: Butler, Merlin G.¹ (AUTHOR)

Source: International Journal of Molecular Sciences. Feb2026, Vol. 27 Issue 3, p1270. 32p.

Non‐random distribution of deleterious mutations in the DNA and protein‐binding domains of IRF6 are associated with Van Der Woude syndrome.

Authors: Alade, Azeez A. Buxo‐Martinez, Carmen J. Mossey, Peter A. et al.

Source: Molecular Genetics & Genomic Medicine. Aug2020, Vol. 8 Issue 8, p1-8. 8p.

Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance.

Authors: Ghorbani F Alimohamed MZ Vilacha JF et al.

Source: Frontiers in genetics [Front Genet] 2022 Mar 25; Vol. 13, pp. 782685. Date of Electronic Publication: 2022 Mar 25 (Print Publication: 2022).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

Validation of New Gene Variant Classification Methods: a Field-Test in Diagnostic Cardiogenetics.

Authors: Alimohamed MZ Westers H Vos YJ et al.

Source: Frontiers in genetics [Front Genet] 2022 Mar 01; Vol. 13, pp. 824510. Date of Electronic Publication: 2022 Mar 01 (Print Publication: 2022).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders.

Authors: de Boer, Eddy N. Scheper, Arjen J. Hendriksen, Dennis et al.

Source: International Journal of Molecular Sciences. Apr2025, Vol. 26 Issue 7, p2850. 15p.

Towards a standard benchmark for phenotype-driven variant and gene prioritisation algorithms: PhEval - Phenotypic inference Evaluation framework.

Authors: Bridges, Yasemin Souza, Vinicius de Cortes, Katherina G. et al.

Source: BMC Bioinformatics. 3/22/2025, Vol. 26 Issue 1, p1-18. 18p.

The diagnostic accuracy of preimplantation genetic testing (PGT) in assessing the genetic status of embryos: a systematic review and meta-analysis.

Authors: Chen, Kexin Hu, Zhixin Lian, Yuxuan et al.

Source: Reproductive Biology & Endocrinology. 3/11/2025, Vol. 23 Issue 1, p1-18. 18p.