Copy Number Analysis in Congenital Nevi: Concordance and Diagnostic Limitations of aCGH, sWGS, and Methylation Sequencing.

Authors: Karelin A; Institute of Medical Genetics and Applied Genomics, Eberhard Karls University of Tübingen, Tübingen, Germany., Brecht IB; Pediatric Hematology and Oncology, Children's Hospital, Eberhard Karls University of Tübingen, Tübingen, Germany., Pogoda M; Institute of Medical Genetics and Applied Genomics, Eberhard Karls University of Tübingen, Tübingen, Germany.; NGS Competence Center, Tübingen, Germany., Demidov G; Institute of Medical Genetics and Applied Genomics, Eberhard Karls University of Tübingen, Tübingen, Germany., Abele M; Pediatric Hematology and Oncology, Children's Hospital, Eberhard Karls University of Tübingen, Tübingen, Germany., Schneider DT; Clinic of Pediatrics, Klinikum Dortmund, University Witten/Herdecke, Dortmund, Germany., Aldea D; Aix Marseille University, INSERM, Marseille Medical Genetics, Marseille, France., Etchevers HC; Aix Marseille University, INSERM, Marseille Medical Genetics, Marseille, France., Puig S; Dermatology Department, Hospital Clínic de Barcelona, Universitat de Barcelona, Institut de Investigacions Biomediques August Pi I Sunyer (IDIBAPS), Barcelona, Spain.; Centro de Investigación BIomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain., Hahn M; Department of Dermatology, Eberhard Karls University of Tübingen, Tübingen, Germany., Schroeder C; Institute of Medical Genetics and Applied Genomics, Eberhard Karls University of Tübingen, Tübingen, Germany., Forchhammer S; Department of Dermatology, Eberhard Karls University of Tübingen, Tübingen, Germany.

Corporate Authors: MELCAYA consortium

Source: Pigment cell & melanoma research [Pigment Cell Melanoma Res] 2026 Jul; Vol. 39 (4), pp. e70097.

Publication Type: Journal Article

Journal Info: Publisher: Blackwell Munksgaard Country of Publication: England NLM ID: 101318927 Publication Model: Print Cited Medium: Internet ISSN: 1755-148X (Electronic) Linking ISSN: 17551471 NLM ISO Abbreviation: Pigment Cell Melanoma Res Subsets: MEDLINE

MeSH Terms: DNA Methylation*/genetics , DNA Copy Number Variations*/genetics , Comparative Genomic Hybridization*/methods , Nevus, Pigmented*/genetics , Nevus, Pigmented*/diagnosis , Nevus, Pigmented*/congenital , Skin Neoplasms*/genetics , Skin Neoplasms*/diagnosis , Whole Genome Sequencing*, Humans ; Female ; Male ; Child, Preschool ; Infant ; Child

Array Comparative Genomic Hybridization Analysis of Products of Conception in Recurrent Pregnancy Loss for specific anomalies detected by USG.

Authors: Gajjar K; K Gajjar, Department of Zoology, Gujarat University, Ahmedabad, India., Patel A; A Patel, GeneXplore Diagnostics and Research Centre Pvt. Ltd., Ahmedabad, India., Patel B; B Patel, Gynob Sonoscan and Fetal Medicine Centre, C/o. Shachi Women's Hospital, Ahmedabad, India., Chettiar S; S Chettiar, GeneXplore Diagnostics and Research Centre Pvt. Ltd., Ahmedabad, India., Jhala D; D Jhala, Department of Zoology, Biomedical Technology and Human Genetics, Ahmedabad, 380009, India.

Source: Reproduction & fertility [Reprod Fertil] 2026 Apr 21; Vol. 4 (2). Date of Electronic Publication: 2026 Apr 21.

Publication Type: Journal Article

Journal Info: Publisher: BioScientifica Country of Publication: England NLM ID: 101778727 Publication Model: Electronic Cited Medium: Internet ISSN: 2633-8386 (Electronic) Linking ISSN: 26338386 NLM ISO Abbreviation: Reprod Fertil Subsets: MEDLINE

MeSH Terms: Abortion, Habitual*/genetics , Abortion, Habitual*/diagnostic imaging , Comparative Genomic Hybridization*/methods , Chromosome Aberrations* , Ultrasonography, Prenatal*, Humans ; Female ; Pregnancy ; In Situ Hybridization, Fluorescence ; DNA Copy Number Variations ; Karyotyping ; Adult

Comparative Genomic Hybridization (CGH) in Genotoxicology: From the Basics to Modern Approaches.

Authors: Nisar N; York St John University, School of Health Sciences, Biomedical Science, Lord Mayor's Walk, York, UK., Baumgartner A; York St John University, School of Health Sciences, Biomedical Science, Lord Mayor's Walk, York, UK. a.baumgartner@yorksj.ac.uk.

Source: Methods in molecular biology (Clifton, N.J.) [Methods Mol Biol] 2026; Vol. 2986, pp. 247-277.

Publication Type: Journal Article; Review

Journal Info: Publisher: Humana Press Country of Publication: United States NLM ID: 9214969 Publication Model: Print Cited Medium: Internet ISSN: 1940-6029 (Electronic) Linking ISSN: 10643745 NLM ISO Abbreviation: Methods Mol Biol Subsets: MEDLINE

MeSH Terms: Comparative Genomic Hybridization*/methods , Toxicogenetics*/methods, High-Throughput Nucleotide Sequencing/methods ; Mutagenicity Tests/methods ; Genomics/methods ; Gene Editing/methods ; Humans ; DNA Copy Number Variations ; Machine Learning ; Animals

Diagnostic yield of array-CGH in children with suspected rare disease.

Authors: Criado-Muriel MC; University of Salamanca (USAL), GIR of Biomedicine of Rare Diseases, Salamanca, Spain; Institute of Biomedical Research of Salamanca (IBSAL), Salamanca, Spain; University Hospital of Salamanca, Department of Pediatrics, Salamanca, Spain; University of Salamanca (USAL), Department of Biomedical and Diagnostics Science, Salamanca, Spain. Electronic address: mccriado@saludcastillayleon.es., Arroyo-Ruiz R; University of Salamanca (USAL), GIR of Biomedicine of Rare Diseases, Salamanca, Spain; Institute of Biomedical Research of Salamanca (IBSAL), Salamanca, Spain; University Hospital of Salamanca, Department of Pediatrics, Salamanca, Spain; University of Málaga, Faculty of Medicine, Málaga, Spain., Marcos-Vadillo E; Institute of Biomedical Research of Salamanca (IBSAL), Salamanca, Spain; University Hospital of Salamanca, Department of Clinical Biochemistry, Salamanca, Spain., Justel-Rodriguez M; University of Salamanca (USAL), GIR of Biomedicine of Rare Diseases, Salamanca, Spain; Institute of Biomedical Research of Salamanca (IBSAL), Salamanca, Spain; University Hospital of Salamanca, Department of Pediatrics, Salamanca, Spain., Alcubilla-García L; Institute of Biomedical Research of Salamanca (IBSAL), Salamanca, Spain; University Hospital of Salamanca, Department of Pediatrics, Salamanca, Spain., Isidoro-García M; Institute of Biomedical Research of Salamanca (IBSAL), Salamanca, Spain; University Hospital of Salamanca, Department of Clinical Biochemistry, Salamanca, Spain; Clinical Rare Diseases Reference Unit DiERCyL, Castilla y León, Spain; University of Salamanca (USAL), Department of Medicine, Salamanca, Spain., Prieto-Matos P; University of Salamanca (USAL), GIR of Biomedicine of Rare Diseases, Salamanca, Spain; Institute of Biomedical Research of Salamanca (IBSAL), Salamanca, Spain; University Hospital of Salamanca, Department of Pediatrics, Salamanca, Spain; University of Salamanca (USAL), Department of Biomedical and Diagnostics Science, Salamanca, Spain.

Source: Jornal de pediatria [J Pediatr (Rio J)] 2025 Nov-Dec; Vol. 101 (6), pp. 101450. Date of Electronic Publication: 2025 Oct 17.

Publication Type: Journal Article; Observational Study

Journal Info: Publisher: Elsevier Editora Ltd Country of Publication: Brazil NLM ID: 2985188R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1678-4782 (Electronic) Linking ISSN: 00217557 NLM ISO Abbreviation: J Pediatr (Rio J) Subsets: MEDLINE

MeSH Terms: Rare Diseases*/diagnosis , Rare Diseases*/genetics , Comparative Genomic Hybridization*/methods, DNA Copy Number Variations/genetics ; Humans ; Male ; Female ; Child ; Child, Preschool ; Infant ; Phenotype ; Adolescent

Molecular divergence and genomic composition of B chromosomes in the fish Cyphocharax modestus (Characiformes, Curimatidae).

Authors: Dos Santos N; Faculdade de Ciências, Universidade Estadual Paulista, Bauru, SP, 17033-360, Brazil., Sassi FMC; Departamento de Genética e Evolução, Universidade Federal de São Carlos, São Carlos, SP, 13565-905, Brazil.; Aquaculture Center of Unesp, São Paulo State University (Unesp), Jaboticabal - SP, 14884-900, Brazil., Dos Santos RZ; Faculdade de Ciências, Universidade Estadual Paulista, Bauru, SP, 17033-360, Brazil., Goes CAG; Faculdade de Ciências, Universidade Estadual Paulista, Bauru, SP, 17033-360, Brazil., de Moraes RLR; Departamento de Genética e Evolução, Universidade Federal de São Carlos, São Carlos, SP, 13565-905, Brazil., Porto-Foresti F; Faculdade de Ciências, Universidade Estadual Paulista, Bauru, SP, 17033-360, Brazil., Liehr T; Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, Germany. thomas.liehr@med.uni-jena.de., Cioffi MB; Departamento de Genética e Evolução, Universidade Federal de São Carlos, São Carlos, SP, 13565-905, Brazil., Utsunomia R; Faculdade de Ciências, Universidade Estadual Paulista, Bauru, SP, 17033-360, Brazil.

Source: Scientific reports [Sci Rep] 2026 Sep 09; Vol. 16 (1). Date of Electronic Publication: 2026 Sep 09.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

MeSH Terms: Characiformes*/genetics , Chromosomes*/genetics , Genetic Variation* , Genome*, DNA, Satellite/genetics ; Animals ; Karyotype ; In Situ Hybridization, Fluorescence ; Comparative Genomic Hybridization ; Evolution, Molecular ; Karyotyping ; Genomics ; Phylogeny

Contribution of Copy Number Variants and Cumulative Genetic Load to Autism Spectrum Disorders: Integrative Insights from Chromosomal Microarray Analysis.

Authors: Di Iorio MR; CEINGE-Biotecnologie Avanzate Franco Salvatore, Via G. Salvatore 486, 80145 Naples, Italy., La Monica I; CEINGE-Biotecnologie Avanzate Franco Salvatore, Via G. Salvatore 486, 80145 Naples, Italy.; Department of Molecular Medicine and Medical Biotechnologies, Federico II University, Via Sergio Pansini 5, 80131 Naples, Italy., Imperatore A; CEINGE-Biotecnologie Avanzate Franco Salvatore, Via G. Salvatore 486, 80145 Naples, Italy., Sica A; CEINGE-Biotecnologie Avanzate Franco Salvatore, Via G. Salvatore 486, 80145 Naples, Italy.; Department of Molecular Medicine and Medical Biotechnologies, Federico II University, Via Sergio Pansini 5, 80131 Naples, Italy., Iorio V; CEINGE-Biotecnologie Avanzate Franco Salvatore, Via G. Salvatore 486, 80145 Naples, Italy.; Department of Molecular Medicine and Medical Biotechnologies, Federico II University, Via Sergio Pansini 5, 80131 Naples, Italy., Pastore L; CEINGE-Biotecnologie Avanzate Franco Salvatore, Via G. Salvatore 486, 80145 Naples, Italy.; Department of Molecular Medicine and Medical Biotechnologies, Federico II University, Via Sergio Pansini 5, 80131 Naples, Italy., Lombardo B; CEINGE-Biotecnologie Avanzate Franco Salvatore, Via G. Salvatore 486, 80145 Naples, Italy.; Department of Molecular Medicine and Medical Biotechnologies, Federico II University, Via Sergio Pansini 5, 80131 Naples, Italy.

Source: International journal of molecular sciences [Int J Mol Sci] 2026 Aug 20; Vol. 27 (16). Date of Electronic Publication: 2026 Aug 20.

Publication Type: Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

MeSH Terms: DNA Copy Number Variations*/genetics , Autism Spectrum Disorder*/genetics, Humans ; Comparative Genomic Hybridization ; Female ; Male ; Child ; Phenotype ; Child, Preschool ; Genetic Predisposition to Disease ; Retrospective Studies ; Adolescent

High-Resolution aCGH Analysis of the Jurkat Cell Line: Copy Number Alterations and Their Association With Cancer Hallmarks.

Authors: DA Costa LM; Department of Biological Sciences, Oncology Research Center, Federal University of Pará, Belém, Brazil., Ferreira WAS; Laboratory of Cytogenomics and Environmental Mutagenesis, Environment Section (SAMAM), Evandro Chagas Institute (IEC), Ananindeua, Brazil., Machado CB; Department of Medicine, Clinical Genetics Laboratory, Drug Research and Development Center (NPDM), Federal University of Ceará, Fortaleza, Brazil., Amorim CKN; Laboratory of Cytogenomics and Environmental Mutagenesis, Environment Section (SAMAM), Evandro Chagas Institute (IEC), Ananindeua, Brazil., VAN DEN Berg AV; Department of Medicine, Institute of Medical Sciences, Federal University of Pará, Belém, Brazil., DE Moraes Filho MO; Department of Medicine, Clinical Genetics Laboratory, Drug Research and Development Center (NPDM), Federal University of Ceará, Fortaleza, Brazil., DE Moraes MEA; Department of Medicine, Clinical Genetics Laboratory, Drug Research and Development Center (NPDM), Federal University of Ceará, Fortaleza, Brazil., DE Souza LEB; Regional Blood Center of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil., Khayat AS; Department of Biological Sciences, Oncology Research Center, Federal University of Pará, Belém, Brazil., DE Oliveira EHC; Laboratory of Cytogenomics and Environmental Mutagenesis, Environment Section (SAMAM), Evandro Chagas Institute (IEC), Ananindeua, Brazil., Moreira-Nunes CA; Department of Biological Sciences, Oncology Research Center, Federal University of Pará, Belém, Brazil; carolfam@gmail.com.; Department of Medicine, Clinical Genetics Laboratory, Drug Research and Development Center (NPDM), Federal University of Ceará, Fortaleza, Brazil.; Clementino Fraga Group, Central Unity, Molecular Biology Laboratory, Fortaleza, Brazil.

Source: Cancer genomics & proteomics [Cancer Genomics Proteomics] 2025 Sep-Oct; Vol. 22 (5), pp. 824-835.

Publication Type: Journal Article

Journal Info: Publisher: International Institute of Anticancer Research Country of Publication: Greece NLM ID: 101188791 Publication Model: Print Cited Medium: Internet ISSN: 1790-6245 (Electronic) Linking ISSN: 11096535 NLM ISO Abbreviation: Cancer Genomics Proteomics Subsets: MEDLINE

MeSH Terms: Comparative Genomic Hybridization*/methods , Precursor T-Cell Lymphoblastic Leukemia-Lymphoma*/genetics , Precursor T-Cell Lymphoblastic Leukemia-Lymphoma*/pathology , DNA Copy Number Variations*, Humans ; Jurkat Cells

Phenotypic spectrum of 19p13.3 microdeletion: a fatal infant case with severe cardiomegaly and gastrointestinal manifestations.

Authors: Eshghi A; Department of pediatric pulmonology, school of medicine, Ali Asghar children's hospital, Iran University of Medical Sciences, Tehran, Iran., Fargi MA; Clinical Immunology, Aliasghar Clinical Research Development Center, Department of Pediatric, School of Medicine, Iran University of Medical Sciences, Tehran, Iran., Pandi M; Pediatric Gastroenterology and Hepatology Specialist, Aliasghar Clinical Research Development Center, Department of Pediatric, School of Medicine, Iran University of Medical Sciences, Tehran, Iran., Tasharrofi B; Ali Asghar clinical research development center, Ali Asghar Children Hospital,, Iran University of Medical Sciences, Tehran, Iran. behnooshtasharrofi63@gmail.com.

Source: Molecular biology reports [Mol Biol Rep] 2026 Sep 27; Vol. 53 (1). Date of Electronic Publication: 2026 Sep 27.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Reidel Country of Publication: Netherlands NLM ID: 0403234 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-4978 (Electronic) Linking ISSN: 03014851 NLM ISO Abbreviation: Mol Biol Rep Subsets: MEDLINE

MeSH Terms: Cardiomegaly*/genetics , Gastrointestinal Diseases*/genetics, Chromosomes, Human, Pair 19/genetics ; Abnormalities, Multiple/genetics ; Heart Defects, Congenital/genetics ; Humans ; Female ; Chromosome Deletion ; Infant ; Phenotype ; Comparative Genomic Hybridization ; Fatal Outcome

Further delineation of 2p13.2-p11.2 deletion syndrome by optical genome mapping.

Authors: Privitera F; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Via dei Giacinti 2, Pisa, 56128, Italy.; Molecular Medicine, IRCCS Fondazione Stella Maris, Via dei Giacinti 2, Pisa, 56128, Italy., Pagano S; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Via dei Giacinti 2, Pisa, 56128, Italy.; Molecular Medicine, IRCCS Fondazione Stella Maris, Via dei Giacinti 2, Pisa, 56128, Italy., Nutile G; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Via dei Giacinti 2, Pisa, 56128, Italy.; Molecular Medicine, IRCCS Fondazione Stella Maris, Via dei Giacinti 2, Pisa, 56128, Italy., Meossi C; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Via dei Giacinti 2, Pisa, 56128, Italy.; Molecular Medicine, IRCCS Fondazione Stella Maris, Via dei Giacinti 2, Pisa, 56128, Italy., Battini R; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Via dei Giacinti 2, Pisa, 56128, Italy.; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, 56126, Italy., Schifino M; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Via dei Giacinti 2, Pisa, 56128, Italy., Santorelli FM; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Via dei Giacinti 2, Pisa, 56128, Italy. filippo.santorelli@fsm.unipi.it.; Molecular Medicine, IRCCS Fondazione Stella Maris, Via dei Giacinti 2, Pisa, 56128, Italy. filippo.santorelli@fsm.unipi.it.; IRCCS Stella Maris Foundation, via dei Giacinti 2, Calambrone, Pisa, 56128, Italy. filippo.santorelli@fsm.unipi.it.

Source: Neurogenetics [Neurogenetics] 2026 Sep 19; Vol. 27 (1). Date of Electronic Publication: 2026 Sep 19.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE

MeSH Terms: Chromosome Mapping*/methods , Chromosomes, Human, Pair 2*/genetics , Chromosome Deletion*, Humans ; Male ; Comparative Genomic Hybridization ; Syndrome ; Child

Diagnostic yield and copy number variants findings in 219 adult patients with developmental and epileptic encephalopathy.

Authors: Licchetta L; IRCCS Istituto Delle Scienze Neurologiche di Bologna, full member of European Reference Network EpiCARE, Bologna, Italy.; Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy., Bruschi G; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Giangregorio T; Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy., Stipa C; IRCCS Istituto Delle Scienze Neurologiche di Bologna, full member of European Reference Network EpiCARE, Bologna, Italy., Mannini E; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Minardi R; IRCCS Istituto Delle Scienze Neurologiche di Bologna, full member of European Reference Network EpiCARE, Bologna, Italy., Mostacci B; IRCCS Istituto Delle Scienze Neurologiche di Bologna, full member of European Reference Network EpiCARE, Bologna, Italy., Tontini V; IRCCS Istituto Delle Scienze Neurologiche di Bologna, full member of European Reference Network EpiCARE, Bologna, Italy., Pippucci T; Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy., Bisulli F; IRCCS Istituto Delle Scienze Neurologiche di Bologna, full member of European Reference Network EpiCARE, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Magini P; Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.

Source: Epilepsia [Epilepsia] 2026 Sep; Vol. 67 (9), pp. e141-e149. Date of Electronic Publication: 2026 Jul 04.

Publication Type: Journal Article

Journal Info: Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE

MeSH Terms: DNA Copy Number Variations*/genetics , Epilepsy*/genetics , Epilepsy*/diagnosis, Humans ; Female ; Adult ; Male ; Comparative Genomic Hybridization ; Young Adult ; Middle Aged ; Adolescent ; Polymorphism, Single Nucleotide ; Exome Sequencing

Cytogenomic landscape of adult Philadelphia chromosome-positive acute lymphoblastic leukemia in Malaysia.

Authors: Phan CL; Department of Haematology, Hospital Ampang, Jalan Mewah Utara, Pandan Mewah, 68000 Ampang, Selangor, Malaysia; Ministry of Health Malaysia; Genetics and Molecular Biology, Institute of Biological Sciences, Faculty of Science, Universiti Malaya, 50603 Kuala Lumpur, Malaysia. Electronic address: chinleephan@gmail.com., Zakaria Z; Ministry of Health Malaysia; Haematology Unit, Cancer Research Centre (CaRC), Institute for Medical Research, National Institute of Health, Block C, No.1, Jalan Setia Murni U13/52, Seksyen U13 Setia Alam, 40170 Shah Alam, Selangor, Malaysia. Electronic address: drzubai@gmail.com., Yegappan S; Department of Haematology, Hospital Ampang, Jalan Mewah Utara, Pandan Mewah, 68000 Ampang, Selangor, Malaysia; Ministry of Health Malaysia. Electronic address: mani14141@gmail.com., Khang TF; Institute of Mathematical Sciences, Faculty of Science, Universiti Malaya, 50603 Kuala Lumpur, Malaysia. Electronic address: tfkhang@um.edu.my., Ng CC; Genetics and Molecular Biology, Institute of Biological Sciences, Faculty of Science, Universiti Malaya, 50603 Kuala Lumpur, Malaysia. Electronic address: ccng@um.edu.my.

Source: Cancer genetics [Cancer Genet] 2026 Sep; Vol. 306-307, pp. 54-62. Date of Electronic Publication: 2026 May 20.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 101539150 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2210-7762 (Print) NLM ISO Abbreviation: Cancer Genet Subsets: MEDLINE

MeSH Terms: Precursor Cell Lymphoblastic Leukemia-Lymphoma*/genetics , Precursor Cell Lymphoblastic Leukemia-Lymphoma*/pathology , Philadelphia Chromosome*, Humans ; Malaysia ; Female ; Comparative Genomic Hybridization ; Adult ; Male ; Middle Aged ; DNA Copy Number Variations ; Polymorphism, Single Nucleotide ; Chromosome Aberrations ; Young Adult ; Aged ; Adolescent

High-Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient-Reported Data.

Authors: George AM; Division of Genetic and Genomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Duki BT; Division of Genetic and Genomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Katz ZS; Division of Genetic and Genomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Viswanathan A; Division of Genetic and Genomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., MacFarland SP; Division of Oncology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Hathaway ER; Division of Genetic and Genomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Monahan C; Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Morris J; International WAGR Syndrome Association, Montgomery Village, Maryland, USA., Trout KL; International WAGR Syndrome Association, Montgomery Village, Maryland, USA., Krantz SM; International WAGR Syndrome Association, Montgomery Village, Maryland, USA., Ganguly A; Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Kalish JM; Division of Genetic and Genomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 Sep; Vol. 200 (9), pp. 1989-1999. Date of Electronic Publication: 2026 Apr 12.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

MeSH Terms: WAGR Syndrome*/genetics , WAGR Syndrome*/diagnosis , WAGR Syndrome*/pathology, Chromosomes, Human, Pair 11/genetics ; Polymorphism, Single Nucleotide/genetics ; Wilms Tumor/genetics ; Humans ; Female ; Comparative Genomic Hybridization ; Male ; Chromosome Deletion ; Cohort Studies ; Child, Preschool ; Phenotype ; Genetic Association Studies ; Infant ; Child ; Genomics

MAD1L1 and MAD2L1 genes variants in spontaneous miscarriage with aneuploidy.

Authors: Hosseini N; Department of Molecular Genetics, School of Basic Sciences and Advanced Technologies in Biology, University of Science and Culture, Tehran, Iran., Kariminejad R; Kariminejad - Najmabadi Pathology & Genetics Center, Tehran, Iran., Boroujeni PB; Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran., Amiri-Yekta A; Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran., Bazrgar M; Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran. bazrgar.masood76@gmail.com.

Source: Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology [Chromosome Res] 2026 Aug 03; Vol. 34 (1). Date of Electronic Publication: 2026 Aug 03.

Publication Type: Journal Article

Journal Info: Publisher: Kluwer Academic Publishers Country of Publication: Netherlands NLM ID: 9313452 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-6849 (Electronic) Linking ISSN: 09673849 NLM ISO Abbreviation: Chromosome Res Subsets: MEDLINE

MeSH Terms: Mad2 Proteins*/genetics , Nuclear Proteins*/genetics , Cell Cycle Proteins*/genetics , Abortion, Spontaneous*/genetics , Aneuploidy*, Humans ; Female ; Polymorphism, Single Nucleotide ; Pregnancy ; Adult ; Comparative Genomic Hybridization ; Gene Frequency ; Exons ; Iran

Kangayam and Tharparkar cattle exhibit higher duplications in innate immune genes compared to Sahiwal, Gir, Karan Fries, and Holstein Friesian: insights from an array comparative genomic hybridization.

Authors: Roshan M; Animal Biochemistry Division, Functional Genomics and Systems Biology Laboratory, ICAR - National Dairy Research Institute, Karnal, Haryana, 132001, India., Vats A; Animal Biochemistry Division, Functional Genomics and Systems Biology Laboratory, ICAR - National Dairy Research Institute, Karnal, Haryana, 132001, India., Bajwa KK; Animal Biochemistry Division, Functional Genomics and Systems Biology Laboratory, ICAR - National Dairy Research Institute, Karnal, Haryana, 132001, India., Sharma S; Animal Biochemistry Division, Functional Genomics and Systems Biology Laboratory, ICAR - National Dairy Research Institute, Karnal, Haryana, 132001, India., Thambiraja M; Department of Bioinformatics, School of Chemical and Biotechnology, SASTRA Deemed to be University, Thanjavur, 613401, India., Sodhi M; Animal Biotechnology Division, ICAR - National Bureau of Animal Genetic Resources, Karnal, Haryana, 132001, India., Singh D; Animal Biochemistry Division, Functional Genomics and Systems Biology Laboratory, ICAR - National Dairy Research Institute, Karnal, Haryana, 132001, India. drdheer.singh@gmail.com., Yennamalli RM; Department of Bioinformatics, School of Chemical and Biotechnology, SASTRA Deemed to be University, Thanjavur, 613401, India. ragothaman@scbt.sastra.ac.in., Onteru SK; Animal Biochemistry Division, Functional Genomics and Systems Biology Laboratory, ICAR - National Dairy Research Institute, Karnal, Haryana, 132001, India. suneelvet@gmail.com.

Source: Mammalian genome : official journal of the International Mammalian Genome Society [Mamm Genome] 2025 Sep; Vol. 36 (3), pp. 812-826. Date of Electronic Publication: 2025 May 31.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9100916 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1777 (Electronic) Linking ISSN: 09388990 NLM ISO Abbreviation: Mamm Genome Subsets: MEDLINE

MeSH Terms: Immunity, Innate*/genetics , Comparative Genomic Hybridization* , Gene Duplication*, Cattle/genetics ; Cattle/immunology ; Animals ; DNA Copy Number Variations ; India ; Breeding

Preliminary Findings on the Use of Array Comparative Genomic Hybridization in Youth with Autism Spectrum Disorder in Qatar: A Case Series Study.

Authors: Khoodoruth MAS; Child and Adolescent Mental Health Service, Hamad Medical Corporation, Doha, Qatar.; Division of Genomics and Precision Medicine, College of Health and Life Sciences, Hamad Bin Khalifa University, Education City, Doha, Qatar., Chut-Kai Khoodoruth WN; Centre of Disease Control and Prevention Department, Hamad Medical Corporation, Doha, Qatar., Alabdulla M; Mental Health Service, Hamad Medical Corporation, Doha, Qatar.; College of Medicine, Qatar University, Doha, Qatar., Khan YS; Child and Adolescent Mental Health Service, Hamad Medical Corporation, Doha, Qatar.

Source: The Journal of genetic psychology [J Genet Psychol] 2025 Jul-Aug; Vol. 186 (4), pp. 317-329. Date of Electronic Publication: 2025 Feb 06.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Psychology Press Country of Publication: United States NLM ID: 2985112R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1940-0896 (Electronic) Linking ISSN: 00221325 NLM ISO Abbreviation: J Genet Psychol Subsets: MEDLINE

MeSH Terms: Autism Spectrum Disorder*/genetics , Autism Spectrum Disorder*/diagnosis , Comparative Genomic Hybridization*/methods, Humans ; Male ; Child ; Qatar

Simplified Derivation of Stable Early Passage Murine Embryonic and Parthenogenetic Stem Cells.

Authors: Pery E; Bedford Research Foundation, Bedford, Massachusetts, USA., Gervasi MG; Department of Animal Science, University of Connecticut, Storrs, Connecticut, USA., Hauser A; Bedford Research Foundation, Bedford, Massachusetts, USA., Leppanen S; Agilent Technologies, Santa Clara, California, USA., Kiessling AA; Bedford Research Foundation, Bedford, Massachusetts, USA.

Source: Stem cells and development [Stem Cells Dev] 2026 Jun; Vol. 35 (11-12), pp. 222-231. Date of Electronic Publication: 2026 May 27.

Publication Type: Journal Article

Journal Info: Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 101197107 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1557-8534 (Electronic) Linking ISSN: 15473287 NLM ISO Abbreviation: Stem Cells Dev Subsets: MEDLINE

MeSH Terms: Embryonic Stem Cells*/cytology , Embryonic Stem Cells*/metabolism , Mouse Embryonic Stem Cells*/cytology , Mouse Embryonic Stem Cells*/metabolism , Cell Culture Techniques*/methods , Parthenogenesis*, Animals ; Mice ; Female ; Comparative Genomic Hybridization ; Male ; Aneuploidy ; Cell Line

Variable organization of repeats and hidden diversity of XY sex chromosomes in Pentatomidae true Bugs (Hemiptera) revealed through comparative genomic hybridization.

Authors: Milani D; Departamento de Biologia Geral e Aplicada, Instituto de Biociências/IB, UNESP- Universidade Estadual Paulista, Rio Claro, São Paulo, 13506-900, Brazil., Bardella VB; Departamento de Biologia Geral e Aplicada, Instituto de Biociências/IB, UNESP- Universidade Estadual Paulista, Rio Claro, São Paulo, 13506-900, Brazil., Hickmann F; Deptartment of Entomology and Acarology, Luiz de Queiroz College of Agriculture, USP/ESALQ, Univ of São Paulo, Piracicaba, SP, Brazil.; Department of Entomology, College of Food, Agricultural, and Environmental Sciences, The Ohio State University, 1680 Madison Ave., Wooster, OH, 44691, USA., Corrêa AS; Deptartment of Entomology and Acarology, Luiz de Queiroz College of Agriculture, USP/ESALQ, Univ of São Paulo, Piracicaba, SP, Brazil., Michel AP; Department of Entomology, College of Food, Agricultural, and Environmental Sciences, The Ohio State University, 1680 Madison Ave., Wooster, OH, 44691, USA., Mora P; Departamento de Biologia Geral e Aplicada, Instituto de Biociências/IB, UNESP- Universidade Estadual Paulista, Rio Claro, São Paulo, 13506-900, Brazil.; Department of Experimental Biology, Genetics Area, University of Jaén, Paraje las Lagunillas s/n, Jaén, 23071, Spain., Rico-Porras JM; Department of Experimental Biology, Genetics Area, University of Jaén, Paraje las Lagunillas s/n, Jaén, 23071, Spain., Palomeque T; Department of Experimental Biology, Genetics Area, University of Jaén, Paraje las Lagunillas s/n, Jaén, 23071, Spain., Lorite P; Department of Experimental Biology, Genetics Area, University of Jaén, Paraje las Lagunillas s/n, Jaén, 23071, Spain., Cabral-de-Mello DC; Departamento de Biologia Geral e Aplicada, Instituto de Biociências/IB, UNESP- Universidade Estadual Paulista, Rio Claro, São Paulo, 13506-900, Brazil. cabral.mello@unesp.br.; Department of Experimental Biology, Genetics Area, University of Jaén, Paraje las Lagunillas s/n, Jaén, 23071, Spain. cabral.mello@unesp.br.

Source: Chromosoma [Chromosoma] 2025 May 26; Vol. 134 (1), pp. 4. Date of Electronic Publication: 2025 May 26.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Springer-Verlag Country of Publication: Austria NLM ID: 2985138R Publication Model: Electronic Cited Medium: Internet ISSN: 1432-0886 (Electronic) Linking ISSN: 00095915 NLM ISO Abbreviation: Chromosoma Subsets: MEDLINE

MeSH Terms: Sex Chromosomes*/genetics , X Chromosome*/genetics , Hemiptera*/genetics , Comparative Genomic Hybridization* , Repetitive Sequences, Nucleic Acid* , Genetic Variation*, Animals ; Male ; Female ; Karyotype ; Karyotyping

Chromosome 22q11.2 Microduplication Syndrome: A Review of the Literature and 12 New Cases.

Authors: Bisba M; Department of Quality and Vigilance, Vigi-Care, 11525 Athens, Greece., Louizou E; Department of Molecular Genetics, Cardea Medical, 15233 Athens, Greece., Vittas S; Department of Molecular Genetics, Cardea Medical, 15233 Athens, Greece.

Source: Genes [Genes (Basel)] 2026 Jul 22; Vol. 17 (7). Date of Electronic Publication: 2026 Jul 22.

Publication Type: Journal Article; Review

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

MeSH Terms: Chromosome Duplication*/genetics , DiGeorge Syndrome*/genetics , DiGeorge Syndrome*/diagnosis , DiGeorge Syndrome*/pathology, Chromosomes, Human, Pair 22/genetics ; Female ; Humans ; Comparative Genomic Hybridization ; Genetic Counseling ; Phenotype ; Prenatal Diagnosis ; Pregnancy ; Abnormalities, Multiple

SCR Disease Name: Chromosome 22q11.2 Microduplication Syndrome

Long-read genome sequencing resolves a de novo complex 18q12.1q21.2 triplication causing partial tetrasomy and reveals its underlying mechanism.

Authors: Redaelli S; School of Medicine and Surgery, University of Milano-Bicocca, Monza, 20900, Italy., Tritto V; Department of Medical Biotechnology and Translational Medicine (BIOMETRA), University of Milan, Milan, 20122, Italy., Mangano E; Institute for Biomedical Technologies (ITB), National Research Council (CNR), Segrate, 20054, Italy., Bordoni R; Institute for Biomedical Technologies (ITB), National Research Council (CNR), Segrate, 20054, Italy., Sala E; UC Medical Genetics, Fondazione IRCCS San Gerardo dei Tintori, Monza, 20900, Italy., Villa N; UC Medical Genetics, Fondazione IRCCS San Gerardo dei Tintori, Monza, 20900, Italy., Crosti F; UC Medical Genetics, Fondazione IRCCS San Gerardo dei Tintori, Monza, 20900, Italy., Dalprà L; School of Medicine and Surgery, University of Milano-Bicocca, Monza, 20900, Italy.; UC Medical Genetics, Fondazione IRCCS San Gerardo dei Tintori, Monza, 20900, Italy., Spaccini L; Clinical Genetics Unit, Department of Obstetrics and Gynecology, Vittore Buzzi Children's Hospital, University of Milan, Milan, 20122, Italy., Sirtori A; Scuola di Specializzazione in Genetica Medica, University of Milano-Bicocca, Monza, 20900, Italy., Cazzaniga G; School of Medicine and Surgery, University of Milano-Bicocca, Monza, 20900, Italy.; UC Medical Genetics, Fondazione IRCCS San Gerardo dei Tintori, Monza, 20900, Italy., Conconi D; School of Medicine and Surgery, University of Milano-Bicocca, Monza, 20900, Italy., Bentivegna A; School of Medicine and Surgery, University of Milano-Bicocca, Monza, 20900, Italy. angela.bentivegna@unimib.it.; UC Medical Genetics, Fondazione IRCCS San Gerardo dei Tintori, Monza, 20900, Italy. angela.bentivegna@unimib.it., Riva P; Department of Medical Biotechnology and Translational Medicine (BIOMETRA), University of Milan, Milan, 20122, Italy. paola.riva@unimi.it.

Source: Human genetics [Hum Genet] 2026 Jul 04; Vol. 145 (1). Date of Electronic Publication: 2026 Jul 04.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

MeSH Terms: Chromosomes, Human, Pair 18*/genetics , Tetrasomy*/genetics , Triploidy*, Humans ; Female ; Loss of Heterozygosity ; Pregnancy ; Karyotyping ; Comparative Genomic Hybridization

Incomplete trisomy 15 rescue associated with hypermethylation of the Prader-Willi critical region.

Authors: Tseng YL; Department of Education, Kuang Tien General Hospital, Taichung, Taiwan; Department of Obstetrics and Gynecology, Kuang-Tien General hospital No. 127, Sec. 7, Xiangshang Rd., Shalu Dist., Taichung City 433004, Taiwan., Chen YC; Department of Obstetrics and Gynecology, Kuang-Tien General hospital No. 127, Sec. 7, Xiangshang Rd., Shalu Dist., Taichung City 433004, Taiwan. Electronic address: obgyn.ktgh@gmail.com.

Source: Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2026 Jul; Vol. 65 (4), pp. 789-793.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Elsevier Country of Publication: China (Republic : 1949- ) NLM ID: 101213819 Publication Model: Print Cited Medium: Internet ISSN: 1875-6263 (Electronic) Linking ISSN: 10284559 NLM ISO Abbreviation: Taiwan J Obstet Gynecol Subsets: MEDLINE

MeSH Terms: Prader-Willi Syndrome*/genetics , Prader-Willi Syndrome*/diagnosis , Trisomy*/diagnosis , Trisomy*/genetics , Uniparental Disomy*/diagnosis , Uniparental Disomy*/genetics , DNA Methylation*, Chromosomes, Human, Pair 15/genetics ; Angelman Syndrome/genetics ; Angelman Syndrome/diagnosis ; Prenatal Diagnosis/methods ; Humans ; Pregnancy ; Female ; Adult ; Karyotyping ; Comparative Genomic Hybridization