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Clinical feature, GALC variant spectrum, and genotype–phenotype correlation in Korean Krabbe disease patients: Multicenter experience over 13 years Clin. Genet. (IF 3.5) Pub Date : 2024-03-22 Narae Hwang, Sang‐Mi Kim, Young‐Gon Kim, Changhee Ha, Jeehun Lee, Byung‐Ok Choi, Won Jae Sung, Seung Hyun Kim, Young Mi Kim, Yong‐Wha Lee, Jieun Kim, Jong‐Won Kim, Ja‐Hyun Jang, Jiwon Lee, Hyung‐Doo Park
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De novo start‐loss variant in HIRA in patient with DiGeorge‐like syndrome Clin. Genet. (IF 3.5) Pub Date : 2024-03-21 Dmitry Maslennikov, Ekaterina Tolmacheva, Jekaterina Shubina, Grigory Vasiliev, Margarita Rogacheva, Ksenia Svirepova, Dmitry Trofimov
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BRCA1‐associated protein 1: Tumor predisposition syndrome and Kury‐Isidor syndrome, from genotype–phenotype correlation to clinical management Clin. Genet. (IF 3.5) Pub Date : 2024-03-20 Elizabeth Casey West, Marco Chiappetta, Aubrey Anne Mattingly, Maria Teresa Congedo, Jessica Evangelista, Annalisa Campanella, Carolina Sassorossi, Sara Flamini, Teresa Rossi, Mariaelena Pistoni, Ludovico Abenavoli, Stefano Margaritora, Filippo Lococo, Luigi Boccuto
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Regulation of N6‐methyladenosine modification in erythropoiesis and thalassemia Clin. Genet. (IF 3.5) Pub Date : 2024-03-16 Yanping Zheng, Siyang Lin, Meihuan Chen, Liangpu Xu, Hailong Huang
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Identification of genetic causes in children with unexplained epilepsy based on trio‐whole exome sequencing Clin. Genet. (IF 3.5) Pub Date : 2024-03-12 Li Chengyan, Xue Chupeng, Wang You, Chen Yinhui, Huang Binglong, Ao Dang, Liu Ling, Tian Chuan
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Autozygome‐guided exome‐first study in a consanguineous cohort with early‐onset retinal disease uncovers an isolated RIMS2 phenotype and a retina‐enriched RIMS2 isoform Clin. Genet. (IF 3.5) Pub Date : 2024-03-12 Marta Del Pozo‐Valero, Basamat Almoallem, Alfredo Dueñas Rey, Quinten Mahieu, Mattias Van Heetvelde, Laila Jeddawi, Miriam Bauwens, Elfride De Baere
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Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome Clin. Genet. (IF 3.5) Pub Date : 2024-03-08 Rabia Faridi, Pamela Stratton, Noemi Salmeri, Robert J. Morell, Asma Ali Khan, Muhammad A. Usmani, William G. Newman, Sheikh Riazuddin, Thomas B. Friedman
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The utility of exome sequencing in diagnosing pediatric neurodevelopmental disorders in a highly consanguineous population Clin. Genet. (IF 3.5) Pub Date : 2024-03-04 Tamam Khalaf, Mode Al Ojaimi, Dina Amin Saleh, Alena Sulaiman, Aman P. Sohal, Arif Khan, Ayman W. El-Hattab
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Genebe.net: Implementation and validation of an automatic ACMG variant pathogenicity criteria assignment Clin. Genet. (IF 3.5) Pub Date : 2024-03-05 Piotr Stawiński, Rafał Płoski
We present GeneBe, an online platform streamlining the automated application of American College of Medical Genetics and Genomics (ACMG), Association for Molecular Pathology (AMP), and the College of American Pathologists (CAP) criteria for assessment of pathogenicity of genetic variants. GeneBe utilizes automated algorithms that evaluate 17 criteria from 28, closely aligning with current guidelines
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A founder variant expands the phenotype of WNT7B-related PDAC syndrome Clin. Genet. (IF 3.5) Pub Date : 2024-02-28 Lama AlAbdi, Zuhair Rahbeeni, Sateesh Maddirevula, Rana Helaby, Firdous Abdulwahab, Arif O. Khan, Lisa G. Riley, Amal Alhashem, Nicolas Chassaing, Robyn V. Jamieson, Fowzan S. Alkuraya
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Cerebral dural arteriovenous fistulas in patients with PTEN‐related hamartoma tumor syndrome Clin. Genet. (IF 3.5) Pub Date : 2024-03-01 Anna Gerasimenko, Cyril Mignot, Olivier Naggara, Florence Coulet, Samar Ekram, Solveig Heide, Clarisse Sorato, Maxime Mazowiecki, Laurence Perrin, Chrystelle Colas, Veronica Cusin, Frédéric Caux, Antoine Dardenne, Salima El Chehadeh, Alain Verloes, Hélène Maurey, Alexandra Afenjar, Florence Petit, Stéphane Barete, Odile Boespflug‐Tanguy, Emmanuelle Bourrat, Yline Capri, Viorica Ciorna, Wallid Deb,
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Reduced kinase function in two ultra‐rare TNNI3K variants in families with congenital junctional ectopic tachycardia Clin. Genet. (IF 3.5) Pub Date : 2024-03-01 Caroline Pham, Tamara T. Koopmann, Jeffrey M. Vinocur, Nico A. Blom, Vivian Nogueira Silbiger, Kirti Mittal, Marianne Bootsma, Kaylin C. A. Palm, Sally‐Ann B. Clur, Daniela Q. C. M. Barge‐Schaapveld, Robert M. Hamilton, Elisabeth M. Lodder
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ASXL3‐related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism Clin. Genet. (IF 3.5) Pub Date : 2024-02-29 Emily Woods, Nicola Holmes, Shadi Albaba, Iwan R. Evans, Meena Balasubramanian
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Evidence for common mechanisms of pathology between SHANK3 and other genes of Phelan‐McDermid syndrome Clin. Genet. (IF 3.5) Pub Date : 2024-02-28 Andrew R. Mitz, Luigi Boccuto, Audrey Thurm
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Genome‐wide association study of cardiometabolic multimorbidity in the UK Biobank Clin. Genet. (IF 3.5) Pub Date : 2024-02-27 Chenxuan Zhao, Tianqi Ma, Xunjie Cheng, Guogang Zhang, Yongping Bai
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Clinical and genetic characteristics in a Chinese cohort of complex spastic paraplegia type 4 Clin. Genet. (IF 3.5) Pub Date : 2024-02-26 Li Yao, Yuwen Cao, Chao Zhang, Xiaojun Huang, Wotu Tian, Li Cao
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Allelic heterogeneity in a patient with postzygotic MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities Clin. Genet. (IF 3.5) Pub Date : 2024-02-20 Camille Engel, Martin Chevarin, Juliette Piard, Marine Abad, Quentin Thomas, Virginie Carmignac, Yannis Duffourd, Martine Lemesle-Martin, Georges Tarris, Christel Thauvin-Robinet, Pierre Vabres, Laurence Faivre, Paul Kuentz
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Novel variant in LRP6 associated with unusual and severe clinical presentation: Case report Clin. Genet. (IF 3.5) Pub Date : 2024-02-22 Anaïk Previdi, Christèle Dubourg, Valérie Cormier Daire, Mélanie Fradin, Corinne Collet
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Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile Clin. Genet. (IF 3.5) Pub Date : 2024-02-22 Dmitrijs Rots, Kathleen Rooney, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Rolph Pfundt, Carlo Marcelis, Marjolein H. Willemsen, Johanna M. van Hagen, Petra Zwijnenburg, Marielle Alders, Katrin Õunap, Tiia Reimand, Olga Fjodorova, Siren Berland, Eva Benedicte Liahjell, Ognjen Bojovic, Marjolein Kriek, Claudia Ruivenkamp, Maria Teresa Bonati, Han G. Brunner, Lisenka E. L. M. Vissers, Bekim Sadikovic
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Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications Clin. Genet. (IF 3.5) Pub Date : 2024-02-19 Purvi Majethia, Namanpreet Kaur, Selinda Mascarenhas, Lakshmi Priya Rao, Shruti Pande, Dhanya Lakshmi Narayanan, Vivekananda Bhat, Shalini S. Nayak, Karthik Vijay Nair, Adarsh Pooradan Prasannakumar, Ankur Chaurasia, Bhagesh Hunakunti, Nalesh Jadhav, Sheeba Farooqui, Mayuri Yeole, Vishaka Kothiwale, Rohit Naik, Veena Bhat, Shrikiran Aroor, Leslie Lewis, Jayashree Purkayastha, Y. Ramesh Bhat, B. K.
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Multi‐gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias Clin. Genet. (IF 3.5) Pub Date : 2024-02-20 Naseebullah Kakar, Fazal ur Rehman, Ramandeep Kaur, Gandham SriLakshmi Bhavani, Manisha Goyal, Hitesh Shah, Karandeep Kaur, Kushaljit Singh Sodhi, Christian Kubisch, Guntram Borck, Inusha Panigrahi, Katta Mohan Girisha, Uwe Kornak, Malte Spielmann
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Severe isolated exudative vitreoretinopathy caused by biallelic FZD4 variants Clin. Genet. (IF 3.5) Pub Date : 2024-02-15 Gry Hoem, Arianna Pastore, Eirik Bratland, Terje Christoffersen, Mariano Stornaiuolo, Sofia Douzgou
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Expanding the phenotype of PPP1R21-related neurodevelopmental disorder Clin. Genet. (IF 3.5) Pub Date : 2024-02-14 Mohammed Almannai, Dana Marafi, Maha S. Zaki, Reza Maroofian, Stephanie Efthymiou, Nebal Waill Saadi, Bilal Filimban, Hormos Salimi Dafsari, Fatima Rahman, Shazia Maqbool, Eissa Faqeih, Fuad Al Mutairi, Hind Alsharhan, Omar Abdelaty, Saadoun Bin-Hasan, Ruizhi Duan, Mahmoud M. Noureldeen, Alaa Alqattan, Henry Houlden, Jill V. Hunter, Jennifer E. Posey, James R. Lupski, Ayman W. El-Hattab
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Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy Clin. Genet. (IF 3.5) Pub Date : 2024-02-14 Flavie Ader, Guillaume Jedraszak, Alexandre Janin, Clarisse Billon, Nathalie Roux Buisson, Adrien Bloch, Meriem Bensalah, Anachiara De Sandre-Giovannoli, Adeline Goudal, Luisa Marsili, Cécile Cazeneuve, Philippe Charron, Gilles Millat, Pascale Richard
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Novel phenotype associated with homozygous likely pathogenic variant in the POP1 gene Clin. Genet. (IF 3.5) Pub Date : 2024-02-13 Marina Michelson, Keren Yosovich, Sarit Bahar, Yuval Yogev, Ohad S. Birk, Mira Ginzberg, Dorit Lev
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A hemizygous loss-of-function variant in BCORL1 is associated with male infertility and oligoasthenoteratozoospermia Clin. Genet. (IF 3.5) Pub Date : 2024-02-11 Chen Luo, Zixu Chen, Lanlan Meng, Chen Tan, Wenbin He, Chaofeng Tu, Juan Du, Guang-Xiu Lu, Ge Lin, Yue-Qiu Tan, Tong-Yao Hu
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Assessing the impact of psychiatric genetic counseling on psychiatric hospitalizations Clin. Genet. (IF 3.5) Pub Date : 2024-02-11 Emily Morris, Kimberlyn McGrail, Sonya Cressman, S. Evelyn Stewart, Jehannine Austin
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Further evidence of involvement of ITSN1 in autosomal dominant neurodevelopmental disorder Clin. Genet. (IF 3.5) Pub Date : 2024-02-12 Khurram Liaqat, Kayla Treat, Theodore E. Wilson, Erin Conboy, Francesco Vetrini
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The first case of a point pathogenic variant in the RREB1 gene in Noonan-like Rasopathy Clin. Genet. (IF 3.5) Pub Date : 2024-02-08 Olga Shatokhina, Fatima Bostanova, Maria Bulakh, Anastasia Beresneva, Oxana Ryzhkova
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Feasibility of whole-exome sequencing in fine-needle aspiration specimens of papillary thyroid microcarcinoma for the identification of novel gene mutations Clin. Genet. (IF 3.5) Pub Date : 2024-02-07 Liyuan Ma, Luying Gao, Ya Hu, Xiaoyi Li, Chunhao Liu, Jiang Ji, Xinlong Shi, Aonan Pan, Yuang An, Nengwen Luo, Yu Xia, Yuxin Jiang
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Patient perspective in perceived comparative genetic mutation risk: An exploratory review Clin. Genet. (IF 3.5) Pub Date : 2024-02-10 Eleonora Cilli, Federica Guerra, Jessica Ranieri, Francesco Brancati, Dina Di Giacomo
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Identification of a founder variant AAGAB c.370C>T, p.Arg124Ter in patients with punctate palmoplantar keratoderma in Southern Denmark Clin. Genet. (IF 3.5) Pub Date : 2024-02-04 Stine Bjørn Gram, Anne Sofie Fredberg Jørgensen, Anette Bygum, Klaus Brusgaard, Lilian Bomme Ousager
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Contribution of genetic variants in the development of familial premature coronary artery disease in a cohort of cardiac patients Clin. Genet. (IF 3.5) Pub Date : 2024-02-03 Sepideh Mehvari, Nahid Karimian Fathi, Sara Saki, Maryam Asadnezhad, Sanaz Arzhangi, Fatemeh Ghodratpour, Marzieh Mohseni, Farzane Zare Ashrafi, Saeed Sadeghian, Mohammadali Boroumand, Fatemeh Shokohizadeh, Elham Rostami, Rahnama Boroumand, Reza Najafipour, Reza Malekzadeh, Yasser Riazalhosseini, Mohammadreza Akbari, Mark Lathrop, Hossein Najmabadi, Kaveh Hosseini, Kimia Kahrizi
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Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene Clin. Genet. (IF 3.5) Pub Date : 2024-01-29 Marlène Malbos, Emma Wakeling, Thierry Gautier, Odile Boespflug-Tanguy, Louise Busby, Tashunka Taylor-Miller, Benjamin Dudoignon, Plamen Bokov, Jérôme Govin, Margot Grisval, Adélaïde Rega, Marie-Gabrielle Mourot De Rougemont, Marie-Hélène Aubriot-Lorton, Véronique Darmency, Candace Bensignor, Anne Houzel, Frédéric Huet, Anne-Sophie Denommé-Pichon, Julian Delanne, Frédéric Tran Mau-Them, Ange-Line Bruel
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Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures Clin. Genet. (IF 3.5) Pub Date : 2024-01-26 Gozde Tutku Turgut, Umut Altunoglu, Cagri Gulec, Tugba Sarac Sivrikoz, Tuğba Kalaycı, Guven Toksoy, Şahin Avcı, Behiye Tuğçe Yıldırım, Gözde Yeşil Sayın, Ibrahim Halil Kalelioglu, Birsen Karaman, Recep Has, Seher Başaran, Atil Yuksel, Hülya Kayserili, Zehra Oya Uyguner
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Development of disease-specific growth charts for Korean children with Beckwith–Wiedemann syndrome Clin. Genet. (IF 3.5) Pub Date : 2024-01-24 Naye Choi, Hwa Young Kim, Jung Min Ko
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Clinical phenotypic spectrum of CTNNB1 neurodevelopmental disorder Clin. Genet. (IF 3.5) Pub Date : 2024-01-21 Khemika K. Sudnawa, Alison Garber, Ryan Cohen, Sean Calamia, Cara H. Kanner, Jacqueline Montes, Jennifer M. Bain, Robert J. Fee, Wendy K. Chung
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Genotype–phenotype correlation in Prader-Willi syndrome: A large-sample analysis in China Clin. Genet. (IF 3.5) Pub Date : 2024-01-23 Shujiong Mao, Lili Yang, Ying Gao, Chaochun Zou
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Hao-Fountain syndrome: 32 novel patients reveal new insights into the clinical spectrum Clin. Genet. (IF 3.5) Pub Date : 2024-01-14 Moritz Claudius Wimmer, Heiko Brennenstuhl, Steffen Hirsch, Laura Dötsch, Samy Unser, Pilar Caro, Christian Patrick Schaaf
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Functional characterization of variants found in Japanese patients with hereditary hemorrhagic telangiectasia Clin. Genet. (IF 3.5) Pub Date : 2024-01-15 Shuhei Morita, Shunsuke Nomura, Kenko Azuma, Ayako Chida-Nagai, Yoshiyuki Furutani, Kei Inai, Tatsuya Inoue, Yasunari Niimi, Yuo Iizuka, Yoshiyuki Tsutsumi, Reina Ishizaki, Hiroyuki Yamagishi, Takakazu Kawamata, Hiroyuki Akagawa
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Functional characterization of inactivating ABCC8 variants causing congenital hyperinsulinism Clin. Genet. (IF 3.5) Pub Date : 2024-01-15 Ping Wang, Hong Liao, Quyou Wang, Hanbing Xie, Bocheng Xu, Qinqin Xiang, He Wang, Mei Yang, Shanling Liu
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The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children Clin. Genet. (IF 3.5) Pub Date : 2024-01-14 Nour Elkhateeb, Mahmoud Y. Issa, Hasnaa M. Elbendary, Walaa Elnaggar, Areef Ramadan, Karima Rafat, Mona Kamel, Sherif F. Abdel-Ghafar, Fawzia Amer, Hebatallah M. Hassaan, Roberta Trunzo, Catarina Pereira, Mohamed S. Abdel-Hamid, Felice D'Arco, Peter Bauer, Aida M. Bertoli-Avella, Marian Girgis, Joseph G. Gleeson, Maha S. Zaki, Laila Selim
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The FGF14 GAA repeat expansion in Greek patients with late-onset cerebellar ataxia and an overview of the SCA27B phenotype across populations Clin. Genet. (IF 3.5) Pub Date : 2024-01-14 Chrisoula Kartanou, Alexandros Mitrousias, David Pellerin, Zoi Kontogeorgiou, Pablo Iruzubieta, Marie-Josée Dicaire, Matt C. Danzi, Chrysoula Koniari, Konstantinos Athanassopoulos, Marios Panas, Leonidas Stefanis, Stephan Zuchner, Bernard Brais, Henry Houlden, Georgia Karadima, Georgios Koutsis
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Is there a dominant-negative effect in individuals with heterozygous disease-causing variants in COL4A3/COL4A4? Clin. Genet. (IF 3.5) Pub Date : 2024-01-12 Korbinian M. Riedhammer, Hannes Simmendinger, Velibor Tasic, Jovana Putnik, Nora Abazi-Emini, Natasa Stajic, Riccardo Berutti, Marc Weidenbusch, Ludwig Patzer, Adrian Lungu, Gordana Milosevski-Lomic, Roman Günthner, Matthias C. Braunisch, Jasmina Ćomić, Julia Hoefele
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Further delineation of the phenotypic and metabolomic profile of ALDH1L2-related neurodevelopmental disorder Clin. Genet. (IF 3.5) Pub Date : 2024-01-09 Mikyoung You, Hanan E. Shamseldin, Halle M. Fogle, Blake R. Rushing, Reem H. AlMalki, Amal Jaafar, Mais Hashem, Firdous Abdulwahab, Anas M. Abdel Rahman, Natalia I. Krupenko, Fowzan S. Alkuraya, Sergey A. Krupenko
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CCDC88C variants are associated with focal epilepsy and genotype–phenotype correlation Clin. Genet. (IF 3.5) Pub Date : 2024-01-03 Yu-Jie Chen, Wen-Jie Wang, Dong-Fang Zou, Jun-Xia Luo, Pei-Yan Jin, Liang Jin, Xiao-Rong Liu, Wei-Ping Liao, Bin Li, Yong-Jun Chen
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Therapeutic strategies for aberrant splicing in cancer and genetic disorders Clin. Genet. (IF 3.5) Pub Date : 2024-01-02 Wenhua Shi, Jingqun Tang, Juanjuan Xiang
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SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymphatic-related fetal hydrops and facial dysmorphology Clin. Genet. (IF 3.5) Pub Date : 2023-12-27 Kara Vanden Broek, Jae-Ryeon Ryu, Renee Perrier, Amanda V. Tyndall, Sarah J. Childs, Ping Yee Billie Au
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Epidemiological and clinical features of malignant hyperthermia: A scoping review Clin. Genet. (IF 3.5) Pub Date : 2023-12-26 Zhukai Cong, Tingting Wan, Jiechu Wang, Luyang Feng, Cathy Cao, Zhengqian Li, Xiaoxiao Wang, Yongzheng Han, Yang Zhou, Ya Gao, Jing Zhang, Yinyin Qu, Xiangyang Guo
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A bi-allelic REC114 loss-of-function variant causes meiotic arrest and nonobstructive azoospermia Clin. Genet. (IF 3.5) Pub Date : 2023-12-26 Shuai Xu, Jingpeng Zhao, Feng Gao, Yuxiang Zhang, Jiaqiang Luo, Chenwang Zhang, Ruhui Tian, Erlei Zhi, Jianxiong Zhang, Furong Bai, Hongfang Sun, Fujun Zhao, Yuhua Huang, Peng Li, Liren Jiang, Zheng Li, Chencheng Yao, Zhi Zhou
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Identifying candidate genes underlying isolated congenital anosmia Clin. Genet. (IF 3.5) Pub Date : 2023-12-26 Marissa L. Kamarck, Casey Trimmer, Nicolle R. Murphy, Kristen M. Gregory, Diogo Manoel, Darren W. Logan, Luis R. Saraiva, Joel D. Mainland
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Spermatozoa in mice lacking the nucleoporin NUP210L show defects in head shape and motility but not in nuclear compaction or histone replacement Clin. Genet. (IF 3.5) Pub Date : 2023-12-21 Maha Al Dala Ali, Guy Longepied, Aurore Nicolet, Catherine Metzler-Guillemain, Michael J. Mitchell
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RUNX2-related metaphyseal dysplasia with maxillary hypoplasia: A rare skeletal disorder resembling SFRP4-related Pyle disease Clin. Genet. (IF 3.5) Pub Date : 2023-12-18 Ewa Hordyjewska-Kowalczyk, Wim Wuyts, Nele Boeckx, An Verdonck, Gretl Hendrickx, Geert Mortier
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A mother and her daughter carrying a pathogenic expansion of the HTT gene with a phenotype encompassing motor neuron disease and Huntington's disease Clin. Genet. (IF 3.5) Pub Date : 2023-12-13 Antonio Canosa, Sara Cabras, Francesca Di Pede, Umberto Manera, Rosario Vasta, Cristina Moglia, Andrea Calvo, Salvatore Gallone, Adriano Chiò
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Exome sequencing identifies homozygous variants in MBOAT7 associated with neurodevelopmental disorder Clin. Genet. (IF 3.5) Pub Date : 2023-12-13 Gul Nazmina, Amjad Khan, Jiuhong Jiang, Zhichao Miao, Shahid Niaz Khan, Muhammad Ismail Khan, Abdul Haleem Shah, Ayesha Haleem Shah, Muhammad Khisroon, Tobias B Haack
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Diagnostic exome identifies a novel PRKG2 mutation in a proband with skeletal dysplasia Clin. Genet. (IF 3.5) Pub Date : 2023-12-10 Payal Kamdar, Thenral S. Geetha, Thomas Palocaren, Madhavi Kandagaddala, Praveen Kumar Chinniah, Sakthivel Murugan, Ramprasad Vedam, Sumita Danda
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Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families Clin. Genet. (IF 3.5) Pub Date : 2023-12-02 Claudia Strafella, Luca Colantoni, Domenica Megalizzi, Giulia Trastulli, Emma Proietti Piorgo, Guido Primiano, Cristina Sancricca, Giulia Ricci, Gabriele Siciliano, Carlo Caltagirone, Massimiliano Filosto, Giorgio Tasca, Enzo Ricci, Raffaella Cascella, Emiliano Giardina
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CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review Clin. Genet. (IF 3.5) Pub Date : 2023-12-03 Hussam Al-Kateb, P. Y. Billie Au, Siren Berland, Benjamin Cogne, Florence Demurger, Joel Fluss, Bertrand Isidor, L. Matthew Frank, Konstantinos Varvagiannis, David A. Koolen, Marie McDonald, Sarah Montgomery, Stéphanie Moortgat, Marie Deprez, Deniz Karadurmus, Julie Paulsen, André Reis, Melissa Rieger, Georgia Vasileiou, Marcia Willing, Marwan Shinawi
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A novel homozygous variant in PMVK is associated with enhanced IL1β secretion and a hyper-IgD syndrome-like phenotype Clin. Genet. (IF 3.5) Pub Date : 2023-11-28 Amit Jairaman, Vaishnavi Ashok Badiger, Spoorthy Raj, Karthik Vijay Nair, Suma Balan, Dhanya Lakshmi Narayanan