Results 201 to 210 of about 55,479 (231)

Integrating artificial intelligence (AI) into colorectal cancer reporting

The Journal of Pathology, Volume 268, Issue 4, Page 367-382, April 2026.
Abstract Artificial intelligence (AI) and deep learning (DL) are transforming cancer research and clinical care, with histopathology playing a central role in this transformation. In colorectal cancer (CRC), the second leading cause of cancer mortality world‐wide, multimodal and vision‐language models (VLMs) hold particular promise for enhancing the ...
Konstantin Bräutigam, Ann‐Marie Baker, Viktor H Koelzer, Jakob N Kather, Trevor A Graham   +4 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

DysRegNet: Patient‐specific and confounder‐aware dysregulated network inference towards precision therapeutics

British Journal of Pharmacology, Volume 183, Issue 8, Page 1709-1724, April 2026.
Abstract Background and Purpose Gene regulation is frequently altered in diseases in unique and patient‐specific ways. Hence, personalised strategies have been proposed to infer patient‐specific gene‐regulatory networks. However, existing methods do not scale well because they often require recomputing the entire network per sample.
Johannes Kersting, Olga Lazareva, Zakaria Louadi, Jan Baumbach, David B. Blumenthal, Markus List   +5 more
wiley   +1 more source

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome

Clinical Genetics, Volume 109, Issue 4, Page 788-795, April 2026.
We identified a recurrent heterozygous MAX c.179G>A:p.Arg60Gln variant in two unrelated females affected with the emerging phenotypes of MAX‐associated polydactyly‐macrocephaly syndrome. We propose that genitourinary abnormalities, including Mayer–Rokitanski–Kuster–Hauser syndrome in one individual, are an expansion of the known phenotypes associated ...
Iftekhar A. Showpnil, Neta Feinstein‐Goren, Lior Greenbaum, Ortal Barel, Daniel C. Koboldt, Samantha A. Brugmann, Kathryn Nicole Weaver, Anne Slavotinek, Ben Pode‐Shakked, Rolf W. Stottmann   +9 more
wiley   +1 more source

Reproductive outcomes in couples with recurrent pregnancy loss after embryonic chromosomal microarray analysis. [PDF]

J Assist Reprod Genet
Li Y, Zhou R, Xia Z, Meng L, Huang M, Hu P, Xu Z, Wang Y.   +7 more
europepmc   +1 more source

Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self‐Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery

Clinical Genetics, Volume 109, Issue 4, Page 717-724, April 2026.
Genome sequencing helped find answers for 1 in 5 children with rare conditions in an outpatient study looking at hybrid genetic care delivery. Families who chose testing themselves had the highest diagnostic yield, showing that self‐referral may be a helpful way to improve access to genetic care.
Kristin Theobald, Amelle Shillington, Farrah Jackson, Jaime Lopes, Casey J. Brewer, Brian Dawson, Gang Wu, James Denton, Mike Pauciulo, Xue Zhang, Anne Slavotinek   +10 more
wiley   +1 more source

Unraveling the Genetic Mysteries of Müllerian Anomalies: Research Approaches and Clinical Significance

Clinical Genetics, Volume 109, Issue 4, Page 615-629, April 2026.
This review primarily summarizes the genetic defects in Müllerian anomalies, the tools used to validate these genetic defects, and the future clinical significance of identifying the precise genetic etiology of Müllerian anomalies. ABSTRACT Müllerian anomalies are a collection of heterogeneous anatomical disorders of the female genital tract that ...
Jingfang Li, Xin Hou, Xiangyu Wang, Juan Li, Li Li, Xiangyi Ma   +5 more
wiley   +1 more source

Myelodysplastic Syndrome (MDS) With KMT2A::CBL Rapidly Progressed to Acute Myeloid Leukaemia (AML)

eJHaem, Volume 7, Issue 2, April 2026.
Ke Xu, Temenuzhka Boneva, Elisabeth Nacheva   +2 more
wiley   +1 more source

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Clinical Utility of Chromosomal Microarray Analysis

Pediatrics, 2012
OBJECTIVE: To test the hypothesis that chromosomal microarray analysis frequently diagnoses conditions that require specific medical follow-up and that referring physicians respond appropriately to abnormal test results.
Jay W, Ellison, J Britt, Ravnan, Jill A, Rosenfeld, S Annie, Morton, Nicholas J, Neill, Marc S, Williams, Jodi, Lewis, Beth S, Torchia, Cathryn, Walker, Ryan N, Traylor, Kimberly, Moles, Elizabeth, Miller, Jennifer, Lantz, Caitlin, Valentin, Sara L, Minier, Kimberly, Leiser, Berkley R, Powell, Timothy M, Wilks, Lisa G, Shaffer   +18 more
openaire   +3 more sources