Works in Clinical Genetics, 2025, Vol 108, Issue 3

Results: 18

Atypical Presentation of Homozygous UROD Mutation: Porphyria Cutanea Tarda or Mild Hepatoerythropoietic Porphyria?

Published in:

Clinical Genetics, 2025, v. 108, n. 3, p. 371, doi. 10.1111/cge.70007

By:

Dotto, Pedro Gabriel;
de Azevedo Vasconccellos, Mônica Ribeiro;
da Silva Franco, José Francisco;
Gomes, Caio Perez;
Pesquero, João Bosco

Publication type:

Article

Diagnosis of Angelman Syndrome, With 66 Years of Delay, Using Hypothesis‐Free DNA Methylation Profiling.

Published in:

Clinical Genetics, 2025, v. 108, n. 3, p. 369, doi. 10.1111/cge.70000

By:

Hildonen, Mathis;
Ferilli, Marco;
Krey, Ilona;
Kohnen, Oona;
Cappelletti, Camilla;
Platzer, Konrad;
Ciolfi, Andrea;
Jamra, Rami Abou;
Tartaglia, Marco;
Tümer, Zeynep

Publication type:

Article

Never Late: Cerebrotendinous Xanthomatosis and Improvements in Neurocognitive Functions in an Adult Patient on Chenodeoxycholic Acid Treatment.

Published in:

Clinical Genetics, 2025, v. 108, n. 3, p. 363, doi. 10.1111/cge.14751

By:

Sultan, Randa;
Villa‐Lopez, Marta;
Hung, Clara;
McCabe, Morganne;
Suchowersky, Oksana;
Urlacher, Jordan;
Mercimek‐Andrews, Saadet

Publication type:

Article

Classic Prader‐Willi Syndrome Phenotype Caused by an Atypical Deletion in the 15q11 Region Not Involving the SNORD Genes.

Published in:

Clinical Genetics, 2025, v. 108, n. 3, p. 352, doi. 10.1111/cge.14750

By:

Martínez, Jazmín Belén;
Arancedo, Josefina María Álvarez;
Solari, Andrea;
Claps, Aldana;
Castro, Tania;
Laiseca, Julieta Eva;
Taboas, Melisa

Publication type:

Article

Identification of Shared Genetic Loci Associated With Inflammatory Bowel Disease, Ischemic Heart Disease, and Atrial Fibrillation and Flutter.

Published in:

Clinical Genetics, 2025, v. 108, n. 3, p. 302, doi. 10.1111/cge.14749

By:

Chen, Guojian;
Luo, Qinghua;
Wu, Chengcheng;
Xie, Mingjun

Publication type:

Article

A Novel Variant c.149G>A in CDK5 Gene Causing Lissencephaly Type 7.

Published in:

Clinical Genetics, 2025, v. 108, n. 3, p. 347, doi. 10.1111/cge.14748

By:

Moirangthem, Amita;
Kar, Anjana;
Sagar, Mahima;
Das, Niladri;
Maurya, Rajesh K.;
Dhakad, Ankit;
Kaur, Rupinder;
Dalal, Ashwin

Publication type:

Article

Specificities of the DMD Point Variant Spectrum in Russian Patients With Duchenne/Becker Muscular Dystrophy.

Published in:

Clinical Genetics, 2025, v. 108, n. 3, p. 292, doi. 10.1111/cge.14747

By:

Zinina, Elena;
Bulakh, Maria;
Chukhrova, Alena;
Ryzhkova, Oksana;
Shchagina, Olga;
Polyakov, Aleksander

Publication type:

Article

Expansion of the Genotypic and Phenotypic Spectrum of SETD5 Disorder Using Data From the National Brain Gene Registry.

Published in:

Clinical Genetics, 2025, v. 108, n. 3, p. 279, doi. 10.1111/cge.14746

By:

Callahan, Nora C.;
Mahida, Sonal;
Sveden, Abigail;
Quinn, Meg;
Chopra, Maya;
Srivastava, Siddharth;
Wasserstein, M.;
Chopra, M.;
Sahin, M.;
Wangler, M.;
Schultz, B.;
Izumi, K.;
Gropman, A.;
Smith‐Hicks, C.;
Abbeduto, L.;
Hazlett, H.;
German, K.;
DaWalt, L.;
Neul, J.;
Constantino, J.

Publication type:

Article

Infantile Cerebellar‐Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model.

Published in:

Clinical Genetics, 2025, v. 108, n. 3, p. 266, doi. 10.1111/cge.14745

By:

Buhl, Edgar;
Garg, Suchika;
Monaghan, Marie;
Preston, Amy;
Likeman, Marcus;
Dare, Julianne;
Evans, Julie;
Taylor, Lucie S.;
Berry, Ian;
Urankar, Kathryn;
Spry, Paul G. D.;
Williams, Cathy;
Taylor, Robert W.;
Alston, Charlotte L.;
Hodge, James J. L.;
Majumdar, Anirban

Publication type:

Article

Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients.

Published in:

Clinical Genetics, 2025, v. 108, n. 3, p. 334, doi. 10.1111/cge.14744

By:

Turgut, Gozde Tutku;
Altunoglu, Umut;
Avcı, Şahin;
Kalaycı, Tuğba;
Aslanger, Ayça Dilruba;
Karaman, Volkan;
Uyguner, Zehra Oya;
Kayserili, Hülya

Publication type:

Article

Case Report: Gingival Hyperplasia and Scoliosis as Additional Features of EMC10‐Related Neurodevelopmental Disorder.

Published in:

Clinical Genetics, 2025, v. 108, n. 3, p. 329, doi. 10.1111/cge.14743

By:

Forest‐St‐Onge, Gaëlle;
Soucy, Jean‐François;
Delrue, Marie‐Ange;
Campeau, Philippe M.

Publication type:

Article

Presenting Characteristics and Medical Conditions in 67 Cases With Trisomy 9 Mosaicism.

Published in:

Clinical Genetics, 2025, v. 108, n. 3, p. 259, doi. 10.1111/cge.14742

By:

Bruns, Deborah A.

Publication type:

Article

Multilocus Disease‐Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From Türkiye.

Published in:

Clinical Genetics, 2025, v. 108, n. 3, p. 240, doi. 10.1111/cge.14740

By:

Kablan, Ahmet;
Sezer, Abdullah;
Bakır, Abdullatif;
Taşdelen, Elifcan;
Dinçsoy Bir, Firdevs;
Erdem, Haktan Bagis;
Saat, Hanife;
Alay, Mustafa Tarık;
Kolkıran, Abdulkerim;
Ataseven Kulali, Melike;
Güneş, Hakan

Publication type:

Article

Impact of SDHA Mutations on Yeast Growth and Mitochondrial Function. Case Study Linking Genetic Findings to Clinical Phenotypes.

Published in:

Clinical Genetics, 2025, v. 108, n. 3, p. 323, doi. 10.1111/cge.14738

By:

Meossi, Camilla;
De Falco, Alessandro;
Marchi, Marco;
Rubegni, Anna;
Pagano, Stefano;
Trovato, Rosanna;
Nesti, Claudia;
Canto, Flavio Dal;
Bartolini, Emanuele;
Salviati, Leonardo;
Santorelli, Filippo Maria

Publication type:

Article

NEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries.

Published in:

Clinical Genetics, 2025, v. 108, n. 3, p. 318, doi. 10.1111/cge.14736

By:

Malfatti, Edoardo;
Caramizaru, Alexandru;
Lee, Hane;
Kim, JiHye;
Shoaito, Hussein;
Pennisi, Alessandra;
Souvannanorath, Sarah;
Authier, François‐Jérôme;
Dumitrescu, Andreea;
Fahmy, Nagia;
Escobar‐Cedillo, Rosa Elena;
Miranda‐Duarte, Antonio;
Luna‐Angulo, Alexandra Berenice;
Nouioua, Sonia;
Benchaabi, Ouissem;
Tazir, Meriem;
Hallal, Sihem;
Martinez, Peggy;
Castiglioni, Claudia;
Dobrescu, Amelia

Publication type:

Article

A Novel UPF1 Variant Associated With a Rare UPF1‐Related Neurodevelopmental Disorder.

Published in:

Clinical Genetics, 2025, v. 108, n. 3, p. 313, doi. 10.1111/cge.14735

By:

Tümer, Zeynep;
Dalsberg, Jonas;
Rønde, Gitte;
Sørensen, Jesper Kiehn;
Østergaard, Elsebet

Publication type:

Article

Loss of Function SPTAN1 Variants Result in Ataxia and Intellectual Disability.

Published in:

Clinical Genetics, 2025, v. 108, n. 3, p. 231, doi. 10.1111/cge.14732

By:

Lu, Po‐Nien;
Melton, Chandler;
Dupont, Barbara;
Jones, Julie R.;
Abidi, Fatima;
Rose, Aubrey;
Patterson, Wesley G.;
Lyons, Michael J.;
Flanagan‐Steet, Heather

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2025, v. 108, n. 3, p. 229, doi. 10.1111/cge.14559
Publication type:: Article