logo
CanyamAI summaries for academic research
language
MobileMobile
  • Phone FeatureWeChat Mini Program
EnglishEnglish
noticeNotice
BlogBlog
delete
arrow
BackJournal Details
Clinical Genetics cover

Clinical Genetics

IF2.3
Papers342
Citations8127
Journal Papers 312
Publication Date
delete
Non-Coding c.*6C>T Variant in RBM8A Associated With Thrombocytopenia-Absent Radius (TAR) Syndrome in Three Indian Patients
deleteClinical Genetics
IF2.3
delete2026-07-08
delete0
PREAI
deleteNitika Langeh; Reddipalli Sharath; Mohammed Tahir Ansari; Jayanth Kumar Palanichamy; Neerja Gupta
deleteShare
deleteSave
Genetic Spectrum of Non-PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort
deleteClinical Genetics
IF2.3
delete2026-07-02
delete0
deleteOAAI
deleteAnna Orlova; Olga Shatokhina; Daria Guseva; Nina Demina; Aleksander Polyakov; Oхana Ryzkova
deleteShare
deleteSave
Phenotypic Characterization of Five Children With PACS1-NDD: Longitudinal Insights Into Development, Behavior, and Brain
deleteClinical Genetics
IF2.3
delete2026-07-02
delete0
deleteOAAI
deleteFiona Journal; Nada Kojovic; Kenza Latrèche; Stefania Solazzo; Marie Schaer
deleteShare
deleteSave
A Second Report of a Missense Variant in AMMECR1 Causing Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis: Case Report and Literature Review
deleteClinical Genetics
IF2.3
delete2026-07-01
delete0
PREAI
deleteJia W. Tan; Matheus Vernet Machado Bressan Wilke; Deepak Panwar; Eva S. Kahn; Marta Figueiral; Ozan Dikilitas; Yao Xiao; David J. Sas; Brendan C. Lanpher; Filippo Pinto e Vairo; Eric W. Klee
deleteShare
deleteSave
Biallelic Variants in ATP1A4 Are Associated with Oligoasthenoteratozoospermia and Male Infertility
deleteClinical Genetics
IF2.3
delete2026-07-01
delete0
PREAI
deleteYantong Zheng; Yingteng Zhang; Keyu Ren; Chuan Jiang; Yihong Yang; Yunchuan Tian; Di Ouyang; Xiang Wang; Ying Shen
deleteShare
deleteSave
From Pathogenicity to Mechanism: A Variant Interpretation Framework for Monogenic Epilepsy
deleteClinical Genetics
IF2.3
delete2026-07-01
delete0
PREAI
deleteShaopei Ye; Peng Chen
deleteShare
deleteSave
Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy
deleteClinical Genetics
IF2.3
delete2026-06-27
delete0
deleteOAAI
deleteKatrine M. Johannesen; Karen Grønskov; Line Kessel; Sarah Linea von Holstein; Lisbeth Birk Møller; Mette Kjøbæk Gundestrup Andersen; Marianne Søndergaard Khinchi; Steffen Hamann; Marianne Wegener; Mette Bertelsen
deleteShare
deleteSave
Biallelic TMEM126B Variants as a Novel Cause of Kidney Failure—Implications for Mitochondrial Genetic Testing in Nephrology: A Response Letter
deleteClinical Genetics
IF2.3
delete2026-06-25
delete0
PREAI
deleteSarah Hammond; Dervla M. Connaughton
deleteShare
deleteSave
Research Progress on the Pathogenesis and Diagnostic and Therapeutic Potential of Ciliopathies Regulated by IFT172
deleteClinical Genetics
IF2.3
delete2026-06-25
delete0
PREAI
deleteDandan Chen; Yuhan Wang; Pengyao Ren; Yangyang Zhou; Chun Zhang; Waner Wang; Jiayi Geng; Yitong Chai; Jiajia Xie; Shuangjie Li; Zhongyi Yan; Xiaoqing Wang; Lei Zhang
deleteShare
deleteSave
Further Support of Autosomal Recessive CSF3-Related Severe Congenital Neutropenia
deleteClinical Genetics
IF2.3
delete2026-06-25
delete0
PREAI
deleteMohammed Almannai; Ahmed A. Alhanshani; Khadijah Bakur; Fowzan S. Alkuraya
deleteShare
deleteSave
Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants
deleteClinical Genetics
IF2.3
delete2026-06-23
delete0
deleteOAAI
deleteEvan Burchfiel; Xiaonan Zhao; Nichole M. Owen; Tia Gordon; Mahshid S. Azamian; Eric C. Kao; Fan Xia; Xi Luo; Jill A. Rosenfeld; Seema R. Lalani; Allison P. Ortega; Steven B. Bleyl; Florence Petit; Sulekha Rajagopolan; Bénédicte Demeer; Meredith K. Gillespie; Lijia Huang; Matthew Osmond; Kym M. Boycott; Kyra E. Stuurman; Marjon A. van Slegtenhorst; Haley Soller; Céline Jost; Aurore Garde; Hana Safraou; Laurence Faivre; Victor Faundes; Daryl A. Scott
deleteShare
deleteSave
Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the Literature
deleteClinical Genetics
IF2.3
delete2026-06-21
delete0
deleteOAAI
deleteWafaa Alharbi; Abdul A. Peer-Zada; Abeer S. Alaqidi; Corinne Collet; Capucine Coulon; Aziza Mushiba; Florence Petit
deleteShare
deleteSave
USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes
deleteClinical Genetics
IF2.3
delete2026-06-18
delete0
deleteOAAI
deleteHelena Wigoda; Amjad Khan; Bryce A. Mendelsohn; Noriko Miyake; Nobuhiko Okamoto; Naomichi Matsumoto; Patricia J. C. Knijnenburg; Johanna M. van Hagen; Jiddeke van de Kamp; Quinten Waisfisz; Bryn D. Webb
deleteShare
deleteSave
An Ancient Founder GDF2 Variant Potentially Causes Semi-Dominant Non-Syndromic Pulmonary Arterial Hypertension
deleteClinical Genetics
IF2.3
delete2026-06-17
delete0
PREAI
deleteAbdullah Aldalaan; Seba Nadeef; Ebtissal Khouj; Fayez Alahmadi; Bayan Aljamal; Noura Alturaif; Nadeen Alharbi; Firdous Abdulwahab; Mashael Alqahtani; Fatima Alzubi; Omar Abuyousef; Mais O. Hashem; Hamdiah Zaytoun; Hanadi Alhamoud; Tarfa Alshidi; Amal Jaafar; Lama Alabdi; Fowzan S. Alkuraya
deleteShare
deleteSave
The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics
deleteClinical Genetics
IF2.3
delete2026-06-16
delete0
deleteOAAI
deleteIan A. Cree; Mark J. Arends; Joseph D. Khoury; Erika R. E. Denton; Anthony J. Gill; Alexander J. Lazar; Ian M. Frayling; Stefan M. Pfister; Mark A. Rubin; Katia R. M. Leite; Raymond Dalgleish; Elspeth A. Bruford; Sharon E. Plon; Ada Hamosh; Michael Francis Walsh; Gabrielle Goldman-Lévy; Harshima Wijesinghe; William D. Foulkes; Dilani Lokuhetty
deleteShare
deleteSave
Clinical and Molecular Portraits of Pediatric RASopathies: A Study of 118 Genotype-Confirmed Cases
deleteClinical Genetics
IF2.3
delete2026-06-09
delete0
PREAI
deleteAslı Genç; Elif Sarıkaya; Ahmet Cevdet Ceylan; Büşranur Çavdarlı; İbrahim İlker Çetin; İlkay Erdoğan; Esra Kılıç
deleteShare
deleteSave
Genetic Landscape of Hearing Loss in Brazilian Patients Reveals Population-Specific Variants and Clinical Correlations
deleteClinical Genetics
IF2.3
delete2026-06-03
delete0
deleteOAAI
deleteStella Diogo-Cavassana; Danillo Alencar-Coutinho; Rafaella Abreu-Oberhuber; Maria Eduarda Paramo-Neto; Jeanne Oiticica; Ricardo Ferreira Bento; Ana Carla Batissoco; Karina Lezirovitz
deleteShare
deleteSave
A Proposed Clinical Diagnostic Framework for Short Telomere Syndrome
deleteClinical Genetics
IF2.3
delete2026-05-31
delete0
deleteOAAI
deleteAndrew Courtwright; Richard A. King; Jennie Vagher; Cate T. Levy; Juan Gallegos F. Orozco; Luis FZ Batista; Afaf Osman; Srinivas Tantavahi; Mary Beth Scholand
deleteShare
deleteSave
GATA4 Single-Amino Acid Deletion in a Male Patient With Congenital Heart Defects, Differences of Sex Development, and Diaphragmatic Hernia
deleteClinical Genetics
IF2.3
delete2026-05-29
delete0
PREAI
deleteNobuhiko Koga; Yuko Katoh-Fukui; Sadahiro Fukui; Kenichi Kashimada; Maki Fukami
deleteShare
deleteSave
Novel Postzygotic Variants Associated With Hypomelanosis of Ito Expand the ACTB-Related Neurocutaneous Disease Spectrum
deleteClinical Genetics
IF2.3
delete2026-05-28
delete0
deleteOAAI
deleteEstella Castillon; Paul Rollier; Didier Bessis; Laurent Pasquier; Caroline Racine; Alexis Praga; Pierre Vabres; Bertille Bonniaud; Paul Kuentz; Laurence Faivre
deleteShare
deleteSave