Works matching IS 00099163 AND DT 2025 AND VI 107 AND IP 2

Results: 18

Genotype–Phenotype Correlations in SYNGAP1‐Related Mental Retardation Type 5.

Published in:

Clinical Genetics, 2025, v. 107, n. 2, p. 136, doi. 10.1111/cge.14661

By:

Hong, Liying;
Yuan, Qifeng

Publication type:

Article

Identification of a Rare Branch Point Variant in the SMS Gene in a Large Family With a Severe Form of Snyder–Robinson Syndrome.

Published in:

Clinical Genetics, 2025, v. 107, n. 2, p. 231, doi. 10.1111/cge.14643

By:

Civit, Antoine;
Ronce, Nathalie;
Cogné, Benjamin;
Besnard, Thomas;
Laurenceau, David;
Hubert, Catherine;
Moizard, Marie‐Pierre;
Gueguen, Paul;
Toutain, Annick;
Vuillaume, Marie‐Laure

Publication type:

Article

Mainstreaming Cancer Genomic Testing: A Scoping Review of the Acceptability, Efficacy, and Impact.

Published in:

Clinical Genetics, 2025, v. 107, n. 2, p. 123, doi. 10.1111/cge.14660

By:

Berkman, Jennifer;
DeBortoli, Emily;
Steinberg, Julia;
Milch, Vivienne;
Yanes, Tatiane;
McInerney‐Leo, Aideen

Publication type:

Article

A Novel Compound Heterozygous Genotype of the WDR73 Gene Associated With a Psychomotor Retardation Syndrome Without Cerebellar Atrophy and Other CNS Structural Abnormalities.

Published in:

Clinical Genetics, 2025, v. 107, n. 2, p. 237, doi. 10.1111/cge.14645

By:

Nogueira, Enrique;
del Olmo, Beatriz;
Babín, Lara;
Vizuete, Génesis;
Lobo, Concepción;
González, Cecilia

Publication type:

Article

A Frameshift Variant in ANKRD24 Implicates Its Role in Human Non‐Syndromic Hearing Loss.

Published in:

Clinical Genetics, 2025, v. 107, n. 2, p. 214, doi. 10.1111/cge.14635

By:

Kazemi, Negar;
Rezvani Rezvandeh, Raziye;
Zare Ashrafi, Farzane;
Shokouhian, Ebrahim;
Edizadeh, Masoud;
Booth, Kevin T. A.;
Kahrizi, Kimia;
Najmabadi, Hossein;
Mohseni, Marzieh

Publication type:

Article

Featured Cover.

Published in:

Clinical Genetics, 2025, v. 107, n. 2, p. 1, doi. 10.1111/cge.14700

By:

Mutlu, Mehmet Burak;
Karakaya, Taner;
Çelebi, Hamide Betül Gerik;
Duymuş, Fahrettin;
Seyhan, Serhat;
Yılmaz, Sanem;
Yiş, Uluç;
Atik, Tahir;
Yetkin, Mehmet Fatih;
Gümüş, Hakan

Publication type:

Article

Genetic Analysis of Heterotaxy in a Consanguineous Cohort.

Published in:

Clinical Genetics, 2025, v. 107, n. 2, p. 224, doi. 10.1111/cge.14641

By:

Al‐Korashy, Maarab;
Binomar, Hadeel;
Al‐Mostafa, Abeer;
Al‐Mogarri, Ibrahim;
Al‐Oufi, Saud;
Al‐Admawi, Mohamed;
Al‐Jufan, Mansour;
Echahidi, Najmeddine;
Mokeem, Amal;
Alfares, Ahmed;
Ramzan, Khushnooda;
Tulbah, Sahar;
Al‐Qahtani, Aisha;
Takroni, Saud;
Maddirevula, Sateesh;
Al‐Hassnan, Zuhair

Publication type:

Article

Genetic Variants Supporting the Diagnosis of Primary Ciliary Dyskinesia in Japan.

Published in:

Clinical Genetics, 2025, v. 107, n. 2, p. 219, doi. 10.1111/cge.14640

By:

Hijikata, Minako;
Morimoto, Kozo;
Ito, Masashi;
Wakabayashi, Keiko;
Miyabayashi, Akiko;
Yamada, Hiroyuki;
Keicho, Naoto

Publication type:

Article

Chromosome 8p Syndromes Clinical Presentation and Management Guidelines.

Published in:

Clinical Genetics, 2025, v. 107, n. 2, p. 169, doi. 10.1111/cge.14626

By:

Santucci, Kourtney;
Malik, Kristina E.;
Angione, Katie;
Bennink, Dana;
Gerk, Andrea;
Mancini, Drew;
Stringfellow, Megan;
Dinkel, Tristen;
Demarest, Scott;
Miele, Andrea S.;
Saenz, Margarita

Publication type:

Article

AMOTL1‐Associated Multiple Congenital Anomalies (Craniofaciocardiohepatic Syndrome, CFCHS): A Novel Clinical Spectrum Including Craniofacial, Heart and Liver Abnormalities.

Published in:

Clinical Genetics, 2025, v. 107, n. 2, p. 234, doi. 10.1111/cge.14644

By:

Gallego‐Zazo, Natalia;
Tenorio‐Castano, Jair;
Parra, Alejandro;
Nevado, Julián;
Cazalla, Mario;
Lucas‐Castro, Elsa;
Heath, Karen E.;
Palomares, María;
Soengas, Emma;
Lledín, M. Dolores;
Larrea, Emily;
Olveira, Antonio;
Morte, Beatriz;
Carracedo, Ángel;
Lapunzina, Pablo

Publication type:

Article

Utility of Optical Genome Mapping in Repeat Disorders.

Published in:

Clinical Genetics, 2025, v. 107, n. 2, p. 188, doi. 10.1111/cge.14633

By:

Mutlu, Mehmet Burak;
Karakaya, Taner;
Çelebi, Hamide Betül Gerik;
Duymuş, Fahrettin;
Seyhan, Serhat;
Yılmaz, Sanem;
Yiş, Uluç;
Atik, Tahir;
Yetkin, Mehmet Fatih;
Gümüş, Hakan

Publication type:

Article

ME2 Deficiency Is Associated With Recessive Neurodevelopmental Disorder.

Published in:

Clinical Genetics, 2025, v. 107, n. 2, p. 201, doi. 10.1111/cge.14632

By:

Almontashiri, Naif A. M.;
Alharby, Essa;
Saleh, Mohammed;
Abu‐Farha, Mohamed;
Alasmari, Ali;
Gebbia, Marinella;
Hiesl, Charlotte;
Peake, Roy W. A.;
Amr, Sami Samir;
Boles, Eckhard;
Roth, Frederick P.;
Abubaker, Jehad

Publication type:

Article

A Strong Candidate Gene for Nonsyndromic Intellectual Disability Phenotype: SGSM3.

Published in:

Clinical Genetics, 2025, v. 107, n. 2, p. 196, doi. 10.1111/cge.14631

By:

Turkyilmaz, Ayberk;
Saglam, Kubra Adanur;
Yilmaz, Mustafa;
Cebi, Alper Han

Publication type:

Article

Biallelic PIGM Coding Variant Causes Intractable Epilepsy and Intellectual Disability Without Thrombotic Events.

Published in:

Clinical Genetics, 2025, v. 107, n. 2, p. 179, doi. 10.1111/cge.14629

By:

Heimer, Gali;
Pode‐Shakked, Ben;
Marek‐Yagel, Dina;
Vernitsky, Helly;
Tzadok, Michal;
Barel, Ortal;
Eyal, Eran;
Ben‐Zeev, Bruria;
Atzmon, Gil;
Anikster, Yair

Publication type:

Article

A Novel PTPRQ c.3697del Variant Causes Autosomal Dominant Progressive Hearing Loss in Both Humans and Mice.

Published in:

Clinical Genetics, 2025, v. 107, n. 2, p. 208, doi. 10.1111/cge.14634

By:

Zhou, Yaqi;
Yin, Na;
Ji, Lingchao;
Lu, Xiaochan;
Yang, Weiqiang;
Ye, Weiping;
Du, Wenhui;
Li, Ya;
Hu, Hongyi;
Mei, Xueshuang

Publication type:

Article

PathVar: A Customisable NGS Variant Calling Algorithm Implicates Novel Candidate Genes and Pathways in Hemiplegic Migraine.

Published in:

Clinical Genetics, 2025, v. 107, n. 2, p. 157, doi. 10.1111/cge.14625

By:

Alfayyadh, Mohammed M.;
Maksemous, Neven;
Sutherland, Heidi G.;
Lea, Rodney A.;
Griffiths, Lyn R.

Publication type:

Article

A Novel Homozygous Missense ZP1 Variant Result in Human Female Empty Follicle Syndrome.

Published in:

Clinical Genetics, 2025, v. 107, n. 2, p. 147, doi. 10.1111/cge.14624

By:

He, Pei;
Liu, Siping;
Shi, Xiao;
Huang, Chuyu;
Li, Wenfeng;
Wu, Jiamin;
Li, Huixi;
Liu, Junting;
Wen, Yuyuan;
Zhang, Weiqing;
Qiu, Zhuolin;
Luo, Chen;
Hua, Rui

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2025, v. 107, n. 2, p. 121, doi. 10.1111/cge.14552
Publication type:: Article