Works matching IS 00099163 AND DT 2025 AND VI 107 AND IP 3

Results: 18

WDFY3 Haploinsufficiency Is Associated With Autosomal Dominant Neurodevelopmental Disorders and Macrocephaly.

Published in:

Clinical Genetics, 2025, v. 107, n. 3, p. 369, doi. 10.1111/cge.14665

By:

Graziani, Ludovico;
Carriero, Miriam Lucia;
Ferradini, Valentina;
Conte, Chiara;
Bengala, Mario;
Sangiuolo, Federica Carla;
Novelli, Giuseppe

Publication type:

Article

Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological Disorder.

Published in:

Clinical Genetics, 2025, v. 107, n. 3, p. 311, doi. 10.1111/cge.14663

By:

Radhakrishnan, Periyasamy;
Quadri, Neha;
Erger, Florian;
Fuhrmann, Nico;
Geist, Otilia‐Maria;
Netzer, Christian;
Khyriem, Ibakordor;
Muranjan, Mamta;
Udani, Vrajesh;
Yeole, Mayuri;
Mascarenhas, Selinda;
Limaye, Sanket;
Siddiqui, Shahyan;
Upadhyai, Priyanka;
Shukla, Anju

Publication type:

Article

Deciphering the Genetic and Epidemiological Landscape of Inherited Retinal Diseases (IRDs) in a Cohort of Eastern Iranian Patients.

Published in:

Clinical Genetics, 2025, v. 107, n. 3, p. 300, doi. 10.1111/cge.14662

By:

Ardehaie, Reza Mousavi;
Eslahi, Atieh;
Alerasool, Masoome;
Rad, Elham Khani;
Shoeibi, Nasser;
Sedaghat, Mohammad Reza;
Avan, Amir;
Pasdar, Alireza;
Mojarrad, Majid

Publication type:

Article

Ataxia With Vitamin E Deficiency: Case Series, Vitamin E Therapy Response, Founder Effect, and In Silico Analysis.

Published in:

Clinical Genetics, 2025, v. 107, n. 3, p. 366, doi. 10.1111/cge.14658

By:

Biglari, Sajjad;
Nikuei, Pooneh;
Mir, Atefeh;
Vahidnezhad, Hassan;
Youssefian, Leila;
Moghaddam, Atefeh Sohanforooshan;
Tabatabaiefar, Mohammad Amin;
Saeidian, Amir Hossein;
Khorram, Erfan;
Fard, Mohammad Ali Farazi;
Farbood, Zahra;
Shahrooei, Mohammad;
Khorshid, Hamid Reza Khorram;
Esmaeilzadeh, Emran

Publication type:

Article

The p.(Gly111Arg) ABCC8 Variant: A Founder Mutation Causing Congenital Hyperinsulinism in the Indian Agarwal Community.

Published in:

Clinical Genetics, 2025, v. 107, n. 3, p. 364, doi. 10.1111/cge.14657

By:

Jain, Vandana;
Radha, Venkatesan;
Mohan, Viswanathan;
Wakeling, Matthew N.;
Bennett, Jasmin J.;
Flanagan, Sarah E.

Publication type:

Article

Mobile Element Insertion in the APOB Exon 3 Coding Sequence: A New Challenge in Hypobetalipoproteinemia Diagnosis.

Published in:

Clinical Genetics, 2025, v. 107, n. 3, p. 359, doi. 10.1111/cge.14655

By:

Surles, Laurie;
Janin, Alexandre;
Molitor, Corentin;
Chatron, Nicolas;
Moret, Myriam;
Nony, Séverine;
Dumont, Sabrina;
Marmontel, Oriane;
Simonet, Thomas;
Sassolas, Agnès;
Moulin, Philippe;
Di Filippo, Mathilde

Publication type:

Article

Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein–Taybi Syndrome With Atypical and Severe Clinical Manifestations.

Published in:

Clinical Genetics, 2025, v. 107, n. 3, p. 354, doi. 10.1111/cge.14654

By:

Pavinato, Lisa;
Carestiato, Silvia;
Trajkova, Slavica;
Sorasio, Lorena;
Mantovani, Giovanna;
De Sanctis, Luisa;
Kerkhof, Jennifer;
McConkey, Haley;
Rzasa, Jessica;
Todd, Emily;
Balzo, Maria;
Cardaropoli, Simona;
Bruselles, Alessandro;
De Rubeis, Silvia;
Buxbaum, Joseph D.;
Tartaglia, Marco;
Sadikovic, Bekim;
Ferrero, Giovanni Battista;
Brusco, Alfredo

Publication type:

Article

Novel BRAT1 Deep Intronic Variant Affects Splicing Regulatory Elements Causing Cerebellar Hypoplasia Syndrome: Genotypic and Phenotypic Expansion.

Published in:

Clinical Genetics, 2025, v. 107, n. 3, p. 348, doi. 10.1111/cge.14653

By:

Poleg, Tomer;
Proskorovski‐Ohayon, Regina;
Dolgin, Vadim;
Hadar, Noam;
Safran, Amit;
Agam, Nadav;
Jean, Matan M.;
Freund, Ofek;
Gradstein, Libe;
Shelef, Ilan;
Sadaka, Yair;
Birk, Ohad S.

Publication type:

Article

Genetic Underpinnings of Oligoasthenoteratozoospermia.

Published in:

Clinical Genetics, 2025, v. 107, n. 3, p. 243, doi. 10.1111/cge.14652

By:

Feng, Yanting;
Liu, Wensheng;
Dong, Junbo;
Lu, Fei;
Wu, Chunyan;
Shao, Qingting;
Duan, Aizhu;
Yang, Xinjie;
Sun, Ruipeng;
Sha, Yanwei;
Wu, Shihao;
Wei, Xiaoli

Publication type:

Article

BRCC3‐Associated Syndromic Moyamoya Angiopathy Diagnosed Through Clinical RNA Sequencing.

Published in:

Clinical Genetics, 2025, v. 107, n. 3, p. 341, doi. 10.1111/cge.14650

By:

Venema, Myrrhe;
Albuainain, Fatimah;
Schot, Rachel;
Roozenbeek, Bob;
Sleutels, Frank;
van Ham, Tjakko;
Barakat, Tahsin Stefan

Publication type:

Article

Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot Study.

Published in:

Clinical Genetics, 2025, v. 107, n. 3, p. 278, doi. 10.1111/cge.14649

By:

Kessler, Luise;
Krause, Jeremias;
Kraft, Florian;
Amin, Asmaa K.;
Fekete, Gyorgy;
Lengyel, Anna;
Pinti, Eva;
Kovacs, Arpad;
Lischka, Annette;
Eggermann, Katja;
Kurth, Ingo;
Knopp, Cordula;
Elbracht, Miriam;
Begemann, Matthias;
Eggermann, Thomas

Publication type:

Article

Exploring the Cognitive and Behavioral Aspects of Shprintzen‐Goldberg Syndrome; a Novel Cohort and Literature Review.

Published in:

Clinical Genetics, 2025, v. 107, n. 3, p. 328, doi. 10.1111/cge.14646

By:

Sjøstrøm, Emilie;
Bruel, Ange‐Line;
Philippe, Christophe;
Delanne, Julian;
Faivre, Laurence;
Menke, Leonie A.;
Au, P. Y. Billie;
Cormick, Jessica Jane;
Moosa, Shahida;
Bayat, Allan

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2025, v. 107, n. 3, p. 241, doi. 10.1111/cge.14553
Publication type:: Article

A Novel De Novo Missense Variant in Netrin‐1 (NTN1) Associated With Chorioretinal Coloboma, Sensorineural Hearing Loss and Polydactyly.

Published in:

Clinical Genetics, 2025, v. 107, n. 3, p. 292, doi. 10.1111/cge.14651

By:

Toms, Maria;
Heppell, Cara;
Owen, Nicholas;
Malka, Samantha;
Moosajee, Mariya

Publication type:

Article

Genetic, Clinical, and Biochemical Characterization of a Large Cohort of Palestinian Patients With Fanconi‐Bickel Syndrome.

Published in:

Clinical Genetics, 2025, v. 107, n. 3, p. 335, doi. 10.1111/cge.14648

By:

Hodrob, Tamer;
Abusalameh, Alaaeddin;
Ismail, Ibrahim;
Dweikat, Imad;
Rmeilah, Sarah Abu;
Sultan, Mutaz;
Libdeh, Bassam Abu;
Libdeh, Abd‐Al‐Salam Abu;
Shweiki, Shaher;
Damseh, Nadirah

Publication type:

Article

The Excess of Carriers in Rare Disorders Suggests a Nonpathogenic Effect for Most Variants of Uncertain Significance.

Published in:

Clinical Genetics, 2025, v. 107, n. 3, p. 323, doi. 10.1111/cge.14642

By:

Medaglia, Stefano;
Reig‐Palou, Jaume;
Bellés, Ariadna;
Moreno‐Ruiz, Nerea;
Rodríguez, Jairo;
Armengol, Xavier;
Aróstegui, Juan Ignacio;
Armengol, Lluís;
Guillén, Juan José;
Laayouni, Hafid;
Casals, Ferran

Publication type:

Article

Skeletal Phenotype in Mulibrey Nanism, A Monogenic Skeletal Dysplasia With Fibrous Dysplasia.

Published in:

Clinical Genetics, 2025, v. 107, n. 3, p. 271, doi. 10.1111/cge.14647

By:

Karlberg, Susann;
Toiviainen‐Salo, Sanna;
Lipsanen‐Nyman, Marita;
Mäkitie, Outi

Publication type:

Article

Modified Rules for Classification of Variants Associated With Disorders of Somatic Mosaicism.

Published in:

Clinical Genetics, 2025, v. 107, n. 3, p. 261, doi. 10.1111/cge.14636

By:

Leon‐Quintero, Fernando Zazueta;
Bowling, Kevin M.;
Dickson, Alexa;
Corliss, Meagan M.;
Schroeder, Molly C.;
Neidich, Julie A.;
Heusel, Jonathan W.;
Krysiak, Kilannin;
Polonis, Katarzyna;
Parikh, Bijal A.;
Cao, Yang

Publication type:

Article