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Clinical Genetics cover

Clinical Genetics

IF2.3
Papers386
Citations8127
Journal Papers 356
Publication Date
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Two Truncating MITF Variants Expand the Phenotypic Spectrum of COMMAD Syndrome
deleteClinical Genetics
IF2.3
delete2026-10-08
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PREAI
deleteAndreas Pampanos; Anastasia-E. Kostantinidou; Maria Tzetis; Vassilis Papanikolaou; Vasiliki Falaina; Aspasia Tsezou
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Compound-Heterozygous PLVAP Missense Variants Associated With Attenuated Protein-Losing Enteropathy (DIAR10)
deleteClinical Genetics
IF2.3
delete2026-10-08
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deleteJana Zídková; Dagmar Procházková; Petra Konečná; Kamila Réblová; Tereza Kramářová; Johana Kopčilová; Magdaléna Soukup Vodičková; Romana Borská; Lenka Fajkusová
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A De Novo ATP1A3 p.Arg995His Variant in a Patient With an Adult-Onset Primary Lateral Sclerosis-Like Syndrome
deleteClinical Genetics
IF2.3
delete2026-10-03
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deletePablo Hernandez-Vitorique; Marta García de Burgos; Ana Campos Villegas; María José Gómez Heredia; Pilar Carbonell Corvillo
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A Novel ACAN Missense Variant in the G1 Domain Causes Short Stature, Advanced Bone Age, and Osteochondritis Dissecans: A Case Report and Literature Review
deleteClinical Genetics
IF2.3
delete2026-10-03
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deleteCuilan Lin; Dongxue Pan; Xin Lai; Simao Fu
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A Homozygous Frameshift Variant in KHDC4 Is Associated With a Syndromic Inherited Retinal Disease in Humans
deleteClinical Genetics
IF2.3
delete2026-10-01
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deleteAsodu Sandeep Sarma; Neta Barnoy; Prakadeeswari Gopalakrishnan; Keren Dichter; Rotem Mizrachi; Manar Salameh; Eyal Banin; Dror Sharon; Adi Inbal; Samer Khateb
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Clinical and Molecular Characterization of a RASopathy Cohort From Türkiye and an AMMECR1-Related Noonan Syndrome-Mimicking Phenotype
deleteClinical Genetics
IF2.3
delete2026-09-30
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deleteEsma Nur Konur Akbaş; Güven Toksoy; Şahin Avcı; Umut Altunoğlu; Tuğba Kalaycı; Gözde Yeşil Sayın; Hülya Kayserili; Zehra Oya Uyguner; Ayça Dilruba Aslanger
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Müllerian Duct Aplasia in a Girl With SMARCB1-Related Coffin–Siris Syndrome: A Rare Co-Occurring Anomaly
deleteClinical Genetics
IF2.3
delete2026-09-30
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deleteAnneli C. S. Bolund; Esben Thyssen Vestergaard; Edvard Marinovskij; Dorte Launholt Lildballe; Jenny Blechingberg; Morten Krogh Herlin
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Loss-Of-Function CCM Gene Variants in Japanese Patients With Cerebral Cavernous Malformations
deleteClinical Genetics
IF2.3
delete2026-09-30
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deleteTakahiro Hori; Satoshi Tsutumi; Kazutoshi Hashimoto; Taichi Ishiguro; Hidenori Ohbuchi; Yasunaga Yamamoto; Emi Nomura; Kenko Azuma; Yuichi Kubota; Hiroyuki Akagawa
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Liquid Biopsy and Multi-Cancer Early Detection Tests for Cancer Screening: A Scoping Review
deleteClinical Genetics
IF2.3
delete2026-09-30
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deleteTessa Robinson; Marian Saab; Lily Thao Nguyen; Pooja Kochar; Olivia Meggetto; Jill Tinmouth; Meghan J. Walker
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Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval
deleteClinical Genetics
IF2.3
delete2026-09-30
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deleteAngelo Condell; Elaine Zhang; Tim Sikora; Sean Massey; Nicole J. Van Bergen; Min Wang; Cas Simons; Katrina M. Bell; Daniella H. Hock; David A. Stroud; David Francis; Wendy A. Gold; Martin B. Delatycki; John Christodoulou; Simranpreet Kaur
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Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita
deleteClinical Genetics
IF2.3
delete2026-09-30
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deleteLauren Kerr; Pierre Moffatt; Lauren Hyer; Sarah Nossov; Noémi Dahan-Oliel; Frank Rauch
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Atypical Prenatal Phenotypic Spectrum: A Case Series of Four Unique Presentations With Genetic and Diagnostic Insights
deleteClinical Genetics
IF2.3
delete2026-09-30
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deleteR. Sahithi Rathod; Geeta Kolar; Suseela Vavilala; Saritha Redishetty; Smita Pawar; Prathibha Reddy; Aditi Shah; Gayatri Nerakh
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Claudin-11–Mediated Hypomyelinating Leukodystrophy 22: New Insights Into Pathogenic Mechanisms
deleteClinical Genetics
IF2.3
delete2026-09-30
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deleteFabio Acquaviva; Serena Troisi; Gabriella Errichiello; Carmela Russo; Eugenio Maria Covelli; Maria Anna Siano; Maria Rosaria Manna; Alfonsina Tirozzi; Daniele De Brasi; Antonio Varone
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Deep Phenotyping in ReNU Syndrome Identifies a Recognizable Age-Dependent Clinical Trajectory
deleteClinical Genetics
IF2.3
delete2026-09-30
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deleteNadja Pekkola Pacheco; Malin Kvarnung; Anna Hammarsjö; Daniel Nilsson; Bianca Tesi; Britt Marie Anderlid; Giedre Grigelioniene; Maria Johansson Soller; Liselot van der Laan; Charlotte Willfors; Charlotta Ingvoldstad Malmgren; Anna Lindstrand; Tommy Stödberg; Ann Nordgren; Angelica Maria Delgado-Vega
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Two Japanese Cases Highlighting Structural and Phenotypic Overlap in AGO1- and AGO2-Related Neurodevelopmental Disorders
deleteClinical Genetics
IF2.3
delete2026-09-27
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deleteMunetsugu Hara; Nobuhiko Okamoto; Yukihiro Kitai; Yoriko Watanabe; Naoko Matsumoto; Kaori Fukui; Ryuta Takase; Yukina Hayashi; Atsushi Fujita; Kumiko Yanagi; Tadashi Kaname; Naomichi Matsumoto
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Recurrent Sterile Polyserositis Reveals an Underrecognized Autoinflammatory Phenotype in MECP2 Duplication Syndrome
deleteClinical Genetics
IF2.3
delete2026-09-27
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deleteDanielle Mendonca; Matt S. Zinter; Sunjay R. Devarajan; Jason Boehme; Bernhard Suter; Mirjana Maletic-Savatic; Eyal Muscal; Davut Pehlivan
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A Homozygous Variant in DMRTB1 Is Associated With Non-Obstructive Azoospermia in Humans
deleteClinical Genetics
IF2.3
delete2026-09-27
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deleteYuHang Li; Shuai Lu; Xun Wang; YiSong Ju; HaoQiang Zhang; Wen Yu; Liang Shi; Qihan Chen; Ao Ma; Xiaozhi Zhao
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Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?
deleteClinical Genetics
IF2.3
delete2026-09-27
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deleteRalyath Balogoun; Margaux Serey-Gaut; Laurence Jonard; Sandrine Marlin
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Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis
deleteClinical Genetics
IF2.3
delete2026-09-27
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deleteMaureen Jacob; Susann Badmann; Stefania Bigoni; Maria Iascone; Ilaria Vivaldi; Katharina Mayerhanser; Robert Kopajtich; Holger Prokisch; Cristina Forest; Sebastian Eck; Michael Zech; Elisabeth Graf; Matias Wagner; Juliane Winkelmann; Theresa Brunet; Melanie Brugger
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A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies
deleteClinical Genetics
IF2.3
delete2026-09-27
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deleteHafiz Muhammad Jafar Hussain; Michael Zimmermann; Stephanie L. Safgren; Joseph D. Farris; Deepak Panwar; Sarah Allen Thurman; Karthik Muthusamy; Raul Urrutia; Myra J. Wick; Filippo Pinto e Vairo; Eric W. Klee
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