Clinical genetics

Keyphrases

Publications

volume 106, number 2, 2024

Piotr Stawiński, Ploski Rafal
Genebe.net: Implementation and validation of an automatic ACMG variant pathogenicity criteria assignment. Clinical genetics 106 (2) (2024)
Marta Del Pozo-Valero, Basamat Almoallem, Alfredo Dueñas Rey, Quinten Mahieu, Mattias Van Heetvelde, Laila Jeddawi, Miriam Bauwens, Elfriede De Baere
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. Clinical genetics 106 (2) (2024)
Jihoon G Yoon, Jung Woo Yu, Kyu Won Shim, Yong Oock Kim, Min Goo Lee
Syndromic craniosynostosis caused by a novel missense variant in MAP4K4: Expanding the genotype-phenotype relationship in RASopathies. Clinical genetics 106 (2) (2024)
Melissa Pauly, Mandy Krumbiegel, Sandra Trumpp, Sonja Braig, Thomas Rupprecht, Cornelia Kraus, Steffen Uebe, André Reis, Georgia Vasileiou
Severe manifestation of Rauch-Azzarello syndrome associated with biallelic deletion of CTNND2. Clinical genetics 106 (2) (2024)

volume 106, number 3, 2024

Eldad Ben-Chetrit, Isabelle Touitou
The significance of carrying MEFV variants in symptomatic and asymptomatic individuals. Clinical genetics 106 (3) (2024)
Elena J Tucker, Michael F Sharp, Anna Lokchine, Katrina M Bell, Catherine S Palmer, Brianna L Kline, Gorjana Robevska, Jocelyn van den Bergen, Jérôme Dulon, Diana Stojanovski, Katie L Ayers, Philippe Touraine, Wayne Crismani, Sylvie Jaillard, Andrew H Sinclair
Biallelic FANCA variants detected in sisters with isolated premature ovarian insufficiency. Clinical genetics 106 (3) (2024)
Line Aagaard Nolting, Tess Holling, Gen Nishimura, Jakob Ek, Mads Bak, Merete Ljungberg, Kerstin Kutsche, Hanne Hove
Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphology. Clinical genetics 106 (3) (2024)
Satoshi Tanaka, Hiroyuki Akagawa, Kenkou Azuma, Sayaka Higuchi, Atsushi Ujiie, Koshi Hashimoto, Naoko Iwasaki
High prevalence of copy number variations in the Japanese participants with suspected MODY. Clinical genetics 106 (3) (2024)
Yosra Mehrjoo, Philippe M Campeau, Lama Al Abdi, Abdullah Aldowaish, Omar Abouyousef, Fowzan Sami Alkuraya, Marta Codina-Solà, Anna M Cueto-González, Hugo Wurtele
Functional studies in yeast confirm the pathogenicity of a new GINS3 Meier-Gorlin syndrome variant. Clinical genetics 106 (3) (2024)
Jun Takayama, Satoshi Makino, Takamitsu Funayama, Masao Ueki, Akira Narita, Keiko Murakami, Masatsugu Orui, Mami Ishikuro, Taku Obara, null null, Shinichi Kuriyama, Masayuki Yamamoto, Gen Tamiya
A fine-scale genetic map of the Japanese population. Clinical genetics 106 (3) (2024)
Zhi Wang, Yan Sun, Yiyin Zhang, Yan Zhang, Ran Zhang, Changying Li, Xuyan Liu, Fengjiao Pan, Dan Qiao, Xiaomeng Shi, Bingying Zhang, Ning Xu, Irene Bottillo, Leping Shao
Identification of seven variants in the col4a1 gene that alter RNA splicing by minigene assay. Clinical genetics 106 (3) (2024)
Elena J Tucker, Michael F Sharp, Anna Lokchine, Katrina M Bell, Catherine S Palmer, Brianna L Kline, Gorjana Robevska, Jocelyn van den Bergen, Jérôme Dulon, Diana Stojanovski, Katie L Ayers, Philippe Touraine, Wayne Crismani, Sylvie Jaillard, Andrew H Sinclair
Biallelic FANCA variants detected in sisters with isolated premature ovarian insufficiency. Clinical genetics 106 (3) (2024)
Shagun Aggarwal, Venugopal Satidevi Vineeth, Shrutika S Padwal, Sameer Ahmed Bhat, Arpita Singh, Aditya Kulkarni, Mallikarjun Patil, Karthik Tallapaka, Divya Pasumarthi, Vijayasree Venkatapuram, Pragna Lakshmi Thotakura, Ashwin Dalal, Rashna Bhandari
SERPINA11 related novel serpinopathy - A perinatal lethal disorder. Clinical genetics 106 (3) (2024)
Georg-Friedrich Vogel, Alexandra Podpeskar, Dietmar Rieder, Helin Salzer, Dorota Garczarczyk-Asim, Li Wang, Kuerbanjiang Abuduxikuer, Jian-She Wang, Anke Scharrer, Eissa Ali Faqeih, Ali T Aseeri, Julia Vodopiutz, Andreas Heilos, Judith Pichler, Wolf-Dietrich Huber, Thomas Müller, A S Knisely, Andreas R Janecke
Kinesin family member 12-related hepatopathy: A generally indolent disorder with elevated gamma-glutamyl-transferase activity. Clinical genetics 106 (3) (2024)
Fati Ullah Khan, Hammal Khan, Kifayat Ullah, Shoaib Nawaz, null Abdullah, Muhammad Javed Khan, Sohail Ahmed, Muhammad Ilyas, Amjad Ali, Imran Ullah, Aamir Sohail, Shabir Hussain, Farooq Ahmad, null Faisal, Raza Sufyan, Amir Hayat, Tooba Hanif, Fatima Bibi, Maria Hayat, Rehmat Ullah, Inam Ullah Khan, Raja Hussain Ali, Muhammad Sharif Hasni, Hamid Ali, Muhammad Bilal, Susana Peralta, Rebecca Buchert, Zamrud Zehri, Gul Hassan, Khurram Liaqat, Muhammad Zahid, Khadim Shah, Outi Mikitie, Tobias B Haack, Weizhen Ji, Saquib A Lakhani, Muhammad Ansar, Wasim Ahmad
Clinical and genetic investigation of 14 families with various forms of short stature syndromes. Clinical genetics 106 (3) (2024)
Satoshi Tanaka, Hiroyuki Akagawa, Kenkou Azuma, Sayaka Higuchi, Atsushi Ujiie, Koshi Hashimoto, Naoko Iwasaki
High prevalence of copy number variations in the Japanese participants with suspected MODY. Clinical genetics 106 (3) (2024)
Georg-Friedrich Vogel, Alexandra Podpeskar, Dietmar Rieder, Helin Salzer, Dorota Garczarczyk-Asim, Li Wang, Kuerbanjiang Abuduxikuer, Jian-She Wang, Anke Scharrer, Eissa Ali Faqeih, Ali T Aseeri, Julia Vodopiutz, Andreas Heilos, Judith Pichler, Wolf-Dietrich Huber, Thomas Müller, A S Knisely, Andreas R Janecke
Kinesin family member 12-related hepatopathy: A generally indolent disorder with elevated gamma-glutamyl-transferase activity. Clinical genetics 106 (3) (2024)
Zhi Wang, Yan Sun, Yiyin Zhang, Yan Zhang, Ran Zhang, Changying Li, Xuyan Liu, Fengjiao Pan, Dan Qiao, Xiaomeng Shi, Bingying Zhang, Ning Xu, Irene Bottillo, Leping Shao
Identification of seven variants in the col4a1 gene that alter RNA splicing by minigene assay. Clinical genetics 106 (3) (2024)
Jindan Yu, Xiuxin Ling, Lingli Chen, Youhong Fang, Haihua Lin, Jingan Lou, Yanqi Ren, Jie Chen
Genotypic and phenotypic features of 39 Chinese patients with glycogen storage diseases type I, VI, and IX. Clinical genetics 106 (3) (2024)
Jindan Yu, Xiuxin Ling, Lingli Chen, Youhong Fang, Haihua Lin, Jingan Lou, Yanqi Ren, Jie Chen
Genotypic and phenotypic features of 39 Chinese patients with glycogen storage diseases type I, VI, and IX. Clinical genetics 106 (3) (2024)
Wei Zhou, Chunli Wang, Luhan Fu, Wei Shi, Aihua Zhang, Zhanjun Jia, Xiaoke Zhao, Dalin Fu, Bixia Zheng
Copy number variants at 4q31.3 affecting the regulatory region of FBXW7 associated with neurodevelopmental delay. Clinical genetics 106 (3) (2024)
Line Aagaard Nolting, Tess Holling, Gen Nishimura, Jakob Ek, Mads Bak, Merete Ljungberg, Kerstin Kutsche, Hanne Hove
Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphology. Clinical genetics 106 (3) (2024)
Yosra Mehrjoo, Philippe M Campeau, Lama Al Abdi, Abdullah Aldowaish, Omar Abouyousef, Fowzan Sami Alkuraya, Marta Codina-Solà, Anna M Cueto-González, Hugo Wurtele
Functional studies in yeast confirm the pathogenicity of a new GINS3 Meier-Gorlin syndrome variant. Clinical genetics 106 (3) (2024)
Eldad Ben-Chetrit, Isabelle Touitou
The significance of carrying MEFV variants in symptomatic and asymptomatic individuals. Clinical genetics 106 (3) (2024)
Büşra Özgüç Çalışkan, Kubra Uslu, Neslihan Sinim Kahraman, Kuddusi Erkilic, Ayşe Öner, Munis Dündar
Beyond the phenotype: Exploring inherited retinal diseases with targeted next-generation sequencing in a Turkish cohort. Clinical genetics 106 (3) (2024)
Neil Mendhiratta, Herman Hauver, Whitley Hatton, Andrew Ostrusky, Devika S Sathe, Sandeep Gurram, Patricia Rice, Heather Chalfin
Outcomes of a universal germline screening program in a community urology practice. Clinical genetics 106 (3) (2024)
Jun Takayama, Satoshi Makino, Takamitsu Funayama, Masao Ueki, Akira Narita, Keiko Murakami, Masatsugu Orui, Mami Ishikuro, Taku Obara, null null, Shinichi Kuriyama, Masayuki Yamamoto, Gen Tamiya
A fine-scale genetic map of the Japanese population. Clinical genetics 106 (3) (2024)
Shagun Aggarwal, Venugopal Satidevi Vineeth, Shrutika S Padwal, Sameer Ahmed Bhat, Arpita Singh, Aditya Kulkarni, Mallikarjun Patil, Karthik Tallapaka, Divya Pasumarthi, Vijayasree Venkatapuram, Pragna Lakshmi Thotakura, Ashwin Dalal, Rashna Bhandari
SERPINA11 related novel serpinopathy - A perinatal lethal disorder. Clinical genetics 106 (3) (2024)
Caitlin Dunstan-Harrison, Ian M Morison, Elizabeth C Ledgerwood
Inherited thrombocytopenia associated with a variant in the FLI1 binding site in the 5' UTR of ANKRD26. Clinical genetics 106 (3) (2024)
Clara Gontijo Camelo, Cristiane de Araujo Martins Moreno, Mariana da Cunha Artilheiro, Alulin Tácio Quadros Monteiro Fonseca, Juliana Gurgel Gianetti, André Vinícius Barbosa, Karina Carvalho Donis, Jonas Alex Morales Saute, André Pessoa, Hélio Van der Linden, Ana Rita Alcântara Gonçalves, Leslie Domenici Kulikowski, Fernando Kok, Edmar Zanoteli
Genetic profile of Brazilian patients with LAMA2-related dystrophies. Clinical genetics 106 (3) (2024)
Alexis Billes, Mathilde Pujalte, Guillaume Jedraszak, Daniel Amsallem, Elise Boudry-Labis, Odile Boute, Sonia Bouquillon, Elise Brischoux-Boucher, Patrick Callier, Charles Coutton, Anne-Laude Avice Denizet, Klaus Dieterich, Paul Kuentz, James Lespinasse, Benoît Mazel, Gilles Morin, Florence Amram, Perrine Pennamen, Marlène Rio, Juliette Piard, Audrey Putoux, Mélanie Rama, Virginie Roze-Guillaumey, Caroline Schluth-Bolard, Marianne Till, Chloé Trouvé, Gaëlle Vieville, Caroline Rooryck, Damien Sanlaville, Nicolas Chatron
Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication. Clinical genetics 106 (3) (2024)
Rini Pauly, Frank Alexander Feltus
Simplified detection of genetic background admixture using artificial intelligence. Clinical genetics 106 (3) (2024)

volume 106, number 4, 2024

Mauro Lecca, Lucia Mauri, Simone Gana, Alessandra Del Longo, Federica Morelli, Roberta Nicotra, Massimo Plumari, Jessica Galli, Fabio Sirchia, Enza Maria Valente, Ugo Cavallari, Marco Mazza, Sabrina Signorini, Edoardo Errichiello
Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract. Clinical genetics 106 (4) (2024)
Andreas W S Kofoed, Silvia S Kristiansen, Maria J Miranda, Guido Rubboli, Katrine M Johannesen
Differences in manifestations of epilepsy and developmental delay in PURA syndrome and 5q31 microdeletions. Clinical genetics 106 (4) (2024)
Catia Mio, Jessica Zucco, Dora Fabbro, Elisa Bregant, Federica Baldan, Lorenzo Allegri, Angela Valentina D'Elia, Valentino Collini, Massimo Imazio, Giuseppe Damante, Flavio Faletra
The impact of the European Society of Cardiology guidelines and whole exome sequencing on genetic testing in hereditary cardiac diseases. Clinical genetics 106 (4) (2024)
Rhonda E Schnur, Lukáš Dvořáček, Louisa Kalsner, Faye L Shapiro, Dana Grebeňová, Diana Yanni, Barry N Wasserman, null null, Lisa M Dyer, Stylianos E Antonarakis, Kateřina Kuželová
New kinase-deficient PAK2 variants associated with Knobloch syndrome type 2. Clinical genetics 106 (4) (2024)
Maryam Sabour-Takanlou, Leila Sabour-Takanlou, Cigir Biray-Avci
EZH2-associated tumor malignancy: A prominent target for cancer treatment. Clinical genetics 106 (4) (2024)
Haley O Oyler, Caitlin M Hudac, Wendy K Chung, LeeAnne Green Synder, Stephanie Robertson, Siddharth Srivastava, Trina Geye
SETBP1 haploinsufficiency and related disorders clinical and neurobehavioral phenotype study. Clinical genetics 106 (4) (2024)
Ana S Pitiot, Pilar Blay, Ander Díaz-Navarro, Sara Fernández-Arrojo, Rosa Romero, Ángel Álvarez-Eguiluz, Marta G Alvarado, Nieves Álvarez, Paula García-Teijido, Yolanda Fernández, Isabel Palacio, Xose S Puente, Milagros Balbín
Featuring BRCA1 and BRCA2 germline mutational landscape from Asturias (North Spain). Clinical genetics 106 (4) (2024)
Muhammad Umair, Zaheer Ahmed, Bilal Shaker, Muhammad Bilal, Abdulkareem Al Abdulrahman, Hammal Khan, Muhammad Jawad Khan, Majid Alfadhel
A novel homozygous FAM92A gene (CIBAR1) variant further confirms its association with non-syndromic postaxial polydactyly type A9 (PAPA9). Clinical genetics 106 (4) (2024)
Nicolai Kohring Tvergaard, Tinatin Tkemaladze, Tommy Stödberg, Malin Kvarnung, Katrina Tatton-Brown, Diana Baralle, Zeynep Tümer, Allan Bayat
Unraveling GRIA1 neurodevelopmental disorders: Lessons learned from the p.(Ala636Thr) variant. Clinical genetics 106 (4) (2024)
Mengzhu Jiang, Shuai Zhang, Jing Liu, Bo Pang, Yijiang Bai, Yongjia Chen, Huping Huang, Jie Ling, Lingyun Mei
Low-intensity noise exposure takes an essential part in the mechanism of late-onset hereditary hearing loss caused by Abcc1 mutation. Clinical genetics 106 (4) (2024)
Rachel Schot, Federico Ferraro, Geert Geeven, Karin E M Diderich, Tahsin Stefan Barakat
Re-analysis of whole genome sequencing ends a diagnostic odyssey: Case report of an RNU4-2 related neurodevelopmental disorder. Clinical genetics 106 (4) (2024)
Aboulfazl Rad, Oliver Bartsch, Somayeh Bakhtiari, Changlian Zhu, Yiran Xu, Fabíola P Monteiro, Fernando Kok, Anneke T Vulto-van Silfhout, Michael C Kruer, Michael R Bowl, Barbara Vona
Expanding the spectrum of phenotypes for MPDZ: Report of four unrelated families and review of the literature. Clinical genetics 106 (4) (2024)
Lucas W Gauthier, Morgane Gossez, Christophe Malcus, Sébastien Viel, Guillaume Monneret, Remy Bordonné, Linda Pons, Sara Cabet, Marion Delous, Sylvie Mazoyer, Audrey Putoux, Patrick Edery
B-cell immune deficiency in twin sisters expands the phenotype of MOPDI. Clinical genetics 106 (4) (2024)
Siying Lin, Anthony G Robson, Dorothy A Thompson, Karolina M Stepien, Robin Lachmann, Emma Footitt, Ola Czyz, Shwetha Chandrasekhar, Elena Schiff, Christos Iosifidis, Graeme C Black, Michel Michaelides, Omar A Mahroo, Gavin Arno, Andrew R Webster
Non-syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity. Clinical genetics 106 (4) (2024)
Nina Vodnjov, Anja Zupan Mežnar, Aleš Maver, Ajda Dolinšek, Borut Peterlin, Karin Writzl
Non-dilated left ventricular cardiomyopathy with arrhythmias is commonly caused by the nonsense variant DSP:c.3793G>T in Slovenian patients. Clinical genetics 106 (4) (2024)
Fazal Rahim, Liu Tao, Khalid Khan, Imtiaz Ali, Aurang Zeb, Ihsan Khan, Sobia Dil, Tanveer Abbas, Ansar Hussain, Muhammad Zubair, Huan Zhang, Ma Hui, Muzammil Ahmad Khan, Wasim Shah, Qinghua Shi
A homozygous ARMC3 splicing variant causes asthenozoospermia and flagellar disorganization in a consanguineous family. Clinical genetics 106 (4) (2024)
T Pragna Lakshmi, Neelam Saini, Mehul A Shah, Swarnalata Gowrishankar, Ashwin B Dalal, Prajnya Ranganath
Short stature and dysmorphic features in Asian Indian siblings with DAAM2-associated steroid-resistant nephrotic syndrome: Expansion of the phenotypic spectrum or a blended phenotype? Clinical genetics 106 (4) (2024)
Burcin Morali, Valancy Miranda, John Raelson, Guy Grimard, Peter Glavas, Francois Audibert, Nicolas A Dumont, Julia Barone, Michael J Bamshad, Emmanuelle Lemyre, Philippe M Campeau
Bi-allelic variants in MYH3 cause recessively-inherited arthrogryposis. Clinical genetics 106 (4) (2024)