Works matching IS 00099163 AND DT 2025 AND VI 107 AND IP 6

Results: 16

From Function to Mechanism: Unveiling the Role of Small Nucleolar Ribonucleic Acids in Digestive Tumours.

Published in:

Clinical Genetics, 2025, v. 107, n. 6, p. 587, doi. 10.1111/cge.14739

By:

Xi, Dongxin;
Sanbai, Guli Shayila Dui;
Jiang, Min;
Zhang, Zhihao;
Sun, Taoran;
Wang, Weijia;
Guo, Yu

Publication type:

Article

Transcript Long‐Read Sequencing Unveils the Molecular Complexity of a Novel ROGDI Splicing Variant in a Tunisian Family With Kohlschütter‐Tönz Syndrome.

Published in:

Clinical Genetics, 2025, v. 107, n. 6, p. 705, doi. 10.1111/cge.14725

By:

Essid, Miriam;
Karoui, Sana;
Zribi, Mouna;
Ben Younes, Thouraya;
Januel, Louis;
Lafont, Estelle;
Labalme, Audrey;
Ben Hafsa, Meriem;
Hun Seo, Go;
Khatrouch, Safa;
Boudabous, Hela;
Ben Chehida, Amel;
Sanlaville, Damien;
Jilani, Houweyda;
Benjemaa, Lamia;
Kraoua, Ichraf;
Lesca, Gaetan;
Chatron, Nicolas

Publication type:

Article

Whole Genome Sequencing to Identify Novel Germline Fumarate Hydratase Mutation in Child With Bilateral Renal Cell Carcinoma.

Published in:

Clinical Genetics, 2025, v. 107, n. 6, p. 702, doi. 10.1111/cge.14723

By:

Kershaw, Christopher;
Demain, Leigh;
Baker, Eleanor;
Burghel, George;
Durkie, Miranda;
Forde, Claire;
Makin, Guy;
Cheesman, Edmund;
Warren, Anne;
Gokhale, David;
Schlecht, Helene;
Maher, Eamonn;
Oliveira, Pedro;
Woodward, Emma

Publication type:

Article

Digenic Inheritance of Monoallelic MUTYH and POLE Germline Variants in Adrenocortical Carcinoma: Implications for Tumorigenesis and Immunotherapy.

Published in:

Clinical Genetics, 2025, v. 107, n. 6, p. 699, doi. 10.1111/cge.14721

By:

Lopez, Jonathan;
Buisson, Adrien;
Ounnas, Adel;
Tachon, Gaelle;
Viari, Alain;
De Fraipont, Florence;
Albuisson, Juliette;
Barritault, Marc;
Bringuier, Pierre‐Paul;
Feugeas, Jean‐Paul;
Mc Leer, Anne;
Bouras, Ahmed

Publication type:

Article

Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge–Ropers Syndrome.

Published in:

Clinical Genetics, 2025, v. 107, n. 6, p. 646, doi. 10.1111/cge.14701

By:

Trujillano, Laura;
Valenzuela, Irene;
Costa‐Roger, Mar;
Cuscó, Ivon;
Fernandez‐Alvarez, Paula;
Cueto‐González, Anna;
Lasa‐Aranzasti, Amaia;
Masotto, Bárbara;
Abulí, Anna;
Codina‐Solà, Marta;
del Campo, Miguel;
Ruiz Moreno, Juan Antonio;
Pardo Domínguez, Cristina;
Palma Milla, Carmen;
Pérez de la Fuente, Rubén;
Quesada‐Espinosa, Juan Francisco;
Núñez‐Enamorado, Noemí;
Gener, Blanca;
Ballesta‐Martínez, María Juliana;
Brea‐Fernández, Alejandro J.

Publication type:

Article

Balanced Translocation t(3;12) Disrupting HMGA2 and NAALADL2 Genes in Twins With Silver–Russell Syndrome and Intellectual Disability.

Published in:

Clinical Genetics, 2025, v. 107, n. 6, p. 694, doi. 10.1111/cge.14699

By:

de Souza, Vanessa Sodré;
Wawruk, Halinna Dornelles;
Mehrjouy, Mana M.;
Bak, Mads;
da Cunha, Gabriela Corassa Rodrigues;
Gonçalves, Ana Caroline Gabriel;
Cordoba, Mara Santos;
Tommerup, Niels;
Mazzeu, Juliana F.

Publication type:

Article

A Splice Site Variant in SENP7 Results in a Severe Form of Arthrogryposis.

Published in:

Clinical Genetics, 2025, v. 107, n. 6, p. 688, doi. 10.1111/cge.14698

By:

Kotecha, Udhaya;
Kim, Euri S.;
Shah, Parth S.;
Shah, Nidhi;
Gupta, Vandana A.

Publication type:

Article

Novel Phenotypes and Genotype–Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome.

Published in:

Clinical Genetics, 2025, v. 107, n. 6, p. 636, doi. 10.1111/cge.14697

By:

Frazier, Zoë J.;
Kilic, Seyda;
Osika, Hailey;
Mo, Alisa;
Quinn, Meg;
Ballal, Sonia;
Katz, Tamar;
Shearer, A. Eliot;
Horlbeck, Max A.;
Pais, Lynn S.;
Dies, Kira A.;
O'Donnell‐Luria, Anne;
Kossowsky, Joe;
Lipton, Jonathan O.;
Kleefstra, Tjitske;
Srivastava, Siddharth

Publication type:

Article

Identification of Novel SCMC Gene Variants Associated With Early Embryonic Arrest.

Published in:

Clinical Genetics, 2025, v. 107, n. 6, p. 680, doi. 10.1111/cge.14696

By:

Zhang, Changlong;
Zhao, Shuai;
Zhang, Honghui;
Su, Wei;
Wang, Yang;
Cui, Ying;
Yang, Bohan;
Wang, Yikun;
Zhao, Han

Publication type:

Article

Lethal Phenotype and Expansion of the Clinical Spectrum of Biallelic Loss of Function Variant in SENP7 Gene Unveiled by Whole Exome Sequencing.

Published in:

Clinical Genetics, 2025, v. 107, n. 6, p. 673, doi. 10.1111/cge.14695

By:

Saad, Ahmed K.;
Hassan, Nagwa H.;
Soliman, Hala N.;
Zaki, Maha S.;
Senousy, Sameh M.;
El‐dessouky, Sara H.

Publication type:

Article

Reanalysis of Exome Sequencing Data in the Indian Undiagnosed Diseases Program: Improving Diagnostic Yield and Ending Diagnostic Odyssey.

Published in:

Clinical Genetics, 2025, v. 107, n. 6, p. 620, doi. 10.1111/cge.14694

By:

Garg, Neha;
Lakshmi, Pragna;
Singh, Suzena M.;
Kulshreshta, Samarth;
Ranganath, Prajnya;
Moirangthem, Amita;
Dalal, Ashwin;
Gahlot, Aakanksha;
Puri, Ratna Dua

Publication type:

Article

Improved Diagnostic Yield in Recessive Intellectual Disability Utilizing Systematic Whole Exome Sequencing Data Reanalysis.

Published in:

Clinical Genetics, 2025, v. 107, n. 6, p. 612, doi. 10.1111/cge.14692

By:

Fattahi, Zohreh;
Shokouhian, Ebrahim;
Peymani, Fatemeh;
Babanejad, Mojgan;
Beheshtian, Maryam;
Edizadeh, Masoud;
Molaei, Negar;
Alagha, Parnian;
Ghodratpour, Fatemeh;
Keshavarzi, Fatemeh;
Moghadam, Masoumeh Goleyjani;
Arzhangi, Sanaz;
Kahrizi, Kimia;
Najmabadi, Hossein

Publication type:

Article

Portuguese Society of Ophthalmology and Portuguese Society of Human Genetics Joint Clinical Practice Guidelines for Genetic Testing in Inherited Retinal Dystrophies.

Published in:

Clinical Genetics, 2025, v. 107, n. 6, p. 600, doi. 10.1111/cge.14691

By:

Marques, João Pedro;
Soares, Célia Azevedo;
Carvalho, Ana Luísa;
Estrela‐Silva, Sérgio;
Santos, Luísa Coutinho;
Ramos, Lina;
Silva, Eduardo

Publication type:

Article

Hereditary Spastic Paraplegia Linked to Abnormal Splicing From an AIMP1 Missense Variant.

Published in:

Clinical Genetics, 2025, v. 107, n. 6, p. 668, doi. 10.1111/cge.14690

By:

Morais, Sara;
Leal Loureiro, José;
Brandão, Eva;
Sequeiros, Jorge;
Stevanin, Giovanni;
Santos, Mariana

Publication type:

Article

A Unique Case of MBD5 and CCM2 Deletions Leading to a Severe Neurological Phenotype With Prolonged Status Epilepticus.

Published in:

Clinical Genetics, 2025, v. 107, n. 6, p. 663, doi. 10.1111/cge.14685

By:

Silva, Sebastián;
Venegas, Viviana;
Valenzuela, Marcela;
Retamales‐Moreno, Álvaro;
Muñoz‐Castro, Carolina;
Acevedo, Hernán;
Marengo, Juan‐José;
Okubo, Mariko;
Takada, Sanami;
Miyake, Noriko

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2025, v. 107, n. 6, p. 585, doi. 10.1111/cge.14556
Publication type:: Article