Molecular genetics & genomic medicine

Keyphrases

Publications

volume 12, number 7, 2024

Muhammad Umair, Meshael Alharbi, Essra Aloyouni, Abdulkareem Al Abdulrahman, Mohammed Aldrees, Abeer Al Tuwaijri, Muhammad Bilal, Majid Alfadhel
Mutated neuron navigator 3 as a candidate gene for a rare neurodevelopmental disorder. Molecular genetics & genomic medicine 12 (7) (2024)
Chung-Lin Lee, Yeun-Wen Chang, Hsiang-Yu Lin, Hung-Chang Lee, Ting-Chi Yeh, Li-Ching Fang, Ni-Chung Lee, Jeng-Daw Tsai, Shuan-Pei Lin
Multisystem disorder associated with a pathogenic variant in CLCN7 in the absence of osteopetrosis. Molecular genetics & genomic medicine 12 (7) (2024)
Yago Garitaonaindia, Miriam Méndez, Fátima Valentín, Lourdes Gutiérrez, Alberto Herreros de Tejada, Antonio Sánchez Ruiz, Mariano Provencio, Atocha Romero
Clinical approach for managing patients with unexpected CDH1 mutations: A case report. Molecular genetics & genomic medicine 12 (7) (2024)
Liya Wang, Wenshan Zeng, Yeqing Qian, Yixi Sun, Min Chen, Bei Liu, Junjie Hu, Ping Yu, Min-Yue Dong
Synonymous variant at the terminal nucleotide in exon 3 of F7 causes abnormal splicing: A case report. Molecular genetics & genomic medicine 12 (7) (2024)
Chung-Lin Lee, Yeun-Wen Chang, Hsiang-Yu Lin, Hung-Chang Lee, Ting-Chi Yeh, Li-Ching Fang, Ni-Chung Lee, Jeng-Daw Tsai, Shuan-Pei Lin
Multisystem disorder associated with a pathogenic variant in CLCN7 in the absence of osteopetrosis. Molecular genetics & genomic medicine 12 (7) (2024)
Yulai Kang, Lu Guo, Zhuo Min, Lei Zhang, Lili Zhang, Chunhua Tang
Brainstem dominant form of X-linked adrenoleukodystrophy with a novel ABCD1 missense variant: A case report and literature review. Molecular genetics & genomic medicine 12 (7) (2024)
Yulai Kang, Lu Guo, Zhuo Min, Lei Zhang, Lili Zhang, Chunhua Tang
Brainstem dominant form of X-linked adrenoleukodystrophy with a novel ABCD1 missense variant: A case report and literature review. Molecular genetics & genomic medicine 12 (7) (2024)
Yago Garitaonaindia, Miriam Méndez, Fátima Valentín, Lourdes Gutiérrez, Alberto Herreros de Tejada, Antonio Sánchez Ruiz, Mariano Provencio, Atocha Romero
Clinical approach for managing patients with unexpected CDH1 mutations: A case report. Molecular genetics & genomic medicine 12 (7) (2024)
Neel S Iyer, Matthew H Mossayebi, Tracy J Gao, Lylach Haizler-Cohen, Daniele Di Mascio, Rodney A McLaren, Huda B Al-Kouatly
Glucose-6-phosphate dehydrogenase deficiency as a cause for nonimmune hydrops fetalis and severe fetal anemia: A systematic review. Molecular genetics & genomic medicine 12 (7) (2024)
Muhammad Umair, Meshael Alharbi, Essra Aloyouni, Abdulkareem Al Abdulrahman, Mohammed Aldrees, Abeer Al Tuwaijri, Muhammad Bilal, Majid Alfadhel
Mutated neuron navigator 3 as a candidate gene for a rare neurodevelopmental disorder. Molecular genetics & genomic medicine 12 (7) (2024)
Chung-Lin Lee, Yeun-Wen Chang, Hsiang-Yu Lin, Hung-Chang Lee, Ting-Chi Yeh, Li-Ching Fang, Ni-Chung Lee, Jeng-Daw Tsai, Shuan-Pei Lin
Multisystem disorder associated with a pathogenic variant in CLCN7 in the absence of osteopetrosis. Molecular genetics & genomic medicine 12 (7) (2024)
Teodora Chamova, Neviana Ivanova, Sylvia Cherninkova, Maya Koleva, Dora Zlatareva, Veneta Bojinova, Kalina Mihova, Martin Georgiev, Dilyan Ferdinandov, Stoyan Bichev, Radka Kaneva, Vanio Mitev, Albena Jordanova, Ivailo Tournev
Clinical and genetic variability among Bulgarian patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay. Molecular genetics & genomic medicine 12 (7) (2024)
Lingyan Ren, Jiangfen Wu, Ying Kuang, Kun Chen, Minmin Jiang, Zhaozhen Zhuo, Zuwei Cao, Shengwen Huang
A novel variant c.902C>A (p. A301D) in KCNQ4 associated with non-syndromic deafness 2A in a Chinese family. Molecular genetics & genomic medicine 12 (7) (2024)

volume 12, number 8, 2024

Yang You, Wenjuan Wu, Yakun Du, Jintong Hu, Baoguang Li
Developmental epileptic encephalopathy caused by homozygosity of a c.172+1G>C variant in the WWOX gene. Molecular genetics & genomic medicine 12 (8) (2024)
Sigurd Dobloug, Ulrika Kjellström, Glenn Anderson, Emily Gardner, Sara E Mole, Jayesh Sheth, Andreas Puschmann
Maculopathy and adult-onset ataxia in patients with biallelic MFSD8 variants. Molecular genetics & genomic medicine 12 (8) (2024)
Giulia Pascolini, Martina Lipari, Federica Gaudioso, Luca Fania, Giovanni Di Zenzo, Biagio Didona
The face of Non-photosensitive trichothiodystrophy phenotypic spectrum: A subsequent study on paediatric population. Molecular genetics & genomic medicine 12 (8) (2024)
Xinyu Shi, Xiaozhou Liu, Yanjun Zong, Zhengdong Zhao, Yu Sun
Novel compound heterozygous variants in MARVELD2 causing autosomal recessive hearing loss in two Chinese families. Molecular genetics & genomic medicine 12 (8) (2024)
Xinyu Shi, Xiaozhou Liu, Yanjun Zong, Zhengdong Zhao, Yu Sun
Novel compound heterozygous variants in MARVELD2 causing autosomal recessive hearing loss in two Chinese families. Molecular genetics & genomic medicine 12 (8) (2024)
Cesar Augusto B Duarte, Carlos Alberto Dos Santos, Cristine Domingues D de Oliveira, Cleverton César Spautz, Laura Masami Sumita, Sueli Massumi Nakatani
Hereditary breast cancer next-generation sequencing panel evaluation in the south region of Brazil: A novel BRCA2 candidate pathogenic variant is reported. Molecular genetics & genomic medicine 12 (8) (2024)
Mingyu Han, Wei Shi, Xiangxiang Chen, Dingwen Wu, Yi Sun, Weiyan Wang, Canyang Zhan, Lingling Hu, Tianming Yuan
Genetic Manifestations and Phenotype Spectrum in Infants With Feeding Difficulty. Molecular genetics & genomic medicine 12 (8) (2024)
Seon Woo Kim, Hyeon Joo Lee, Naye Choi, Ee-Kyung Kim, Jung Min Ko
Dramatic Clinical Improvement With Biotin Mega-Dose Therapy in a Neonate With Holocarboxylase Synthetase Deficiency. Molecular genetics & genomic medicine 12 (8) (2024)
Cesar Augusto B Duarte, Carlos Alberto Dos Santos, Cristine Domingues D de Oliveira, Cleverton César Spautz, Laura Masami Sumita, Sueli Massumi Nakatani
Hereditary breast cancer next-generation sequencing panel evaluation in the south region of Brazil: A novel BRCA2 candidate pathogenic variant is reported. Molecular genetics & genomic medicine 12 (8) (2024)
Milja Salo, Teija Kimpimäki, Heini Huhtala, Tanja Saarela
Genetic testing and new variants in diagnosis of congenital ichthyoses. Molecular genetics & genomic medicine 12 (8) (2024)
Milja Salo, Teija Kimpimäki, Heini Huhtala, Tanja Saarela
Genetic testing and new variants in diagnosis of congenital ichthyoses. Molecular genetics & genomic medicine 12 (8) (2024)
Jaroslav Alois Hubacek, Vera Adamkova, Vera Lanska, Vladimir Stanek, Jolana Mrazkova, Marie Gebauerova, Jiri Kettner, Josef Kautzner, Jan Pitha
APOL1 polymorphisms are not influencing acute coronary syndrome risk in Czech males. Molecular genetics & genomic medicine 12 (8) (2024)
Magan Trottier, Dina Green, Hannah Ovadia, Amanda Catchings, Julia Gruberg, Victoria Groner, Catherine Fanjoy, Sita Dandiker, Kathleen Blazer, Jada G Hamilton, Kenneth Offit
Genetics healthcare providers' experiences counseling patients with results from consumer genomic testing. Molecular genetics & genomic medicine 12 (8) (2024)
Mingyu Han, Wei Shi, Xiangxiang Chen, Dingwen Wu, Yi Sun, Weiyan Wang, Canyang Zhan, Lingling Hu, Tianming Yuan
Genetic Manifestations and Phenotype Spectrum in Infants With Feeding Difficulty. Molecular genetics & genomic medicine 12 (8) (2024)
Jaroslav Alois Hubacek, Vera Adamkova, Vera Lanska, Vladimir Stanek, Jolana Mrazkova, Marie Gebauerova, Jiri Kettner, Josef Kautzner, Jan Pitha
APOL1 polymorphisms are not influencing acute coronary syndrome risk in Czech males. Molecular genetics & genomic medicine 12 (8) (2024)
Magan Trottier, Dina Green, Hannah Ovadia, Amanda Catchings, Julia Gruberg, Victoria Groner, Catherine Fanjoy, Sita Dandiker, Kathleen Blazer, Jada G Hamilton, Kenneth Offit
Genetics healthcare providers' experiences counseling patients with results from consumer genomic testing. Molecular genetics & genomic medicine 12 (8) (2024)
Sigurd Dobloug, Ulrika Kjellström, Glenn Anderson, Emily Gardner, Sara E Mole, Jayesh Sheth, Andreas Puschmann
Maculopathy and adult-onset ataxia in patients with biallelic MFSD8 variants. Molecular genetics & genomic medicine 12 (8) (2024)
Giulia Pascolini, Martina Lipari, Federica Gaudioso, Luca Fania, Giovanni Di Zenzo, Biagio Didona
The face of Non-photosensitive trichothiodystrophy phenotypic spectrum: A subsequent study on paediatric population. Molecular genetics & genomic medicine 12 (8) (2024)
Yang You, Wenjuan Wu, Yakun Du, Jintong Hu, Baoguang Li
Developmental epileptic encephalopathy caused by homozygosity of a c.172+1G>C variant in the WWOX gene. Molecular genetics & genomic medicine 12 (8) (2024)
Mingxue Wang, Yujia Gu, Shuhan Meng, Lixin Kang, Jing Yang, Degang Sun, Yuxing Liu, Ze Wan, Yi Shan, Dongjie Xue, Chang Su, Shufen Li, null RanYan, Yu Liu, Yonghui Pan, YaShuang Zhao
Association between MAPK and PI3K/Akt signaling pathway-related gene polymorphisms and migraine. Molecular genetics & genomic medicine 12 (8) (2024)
Mingxue Wang, Yujia Gu, Shuhan Meng, Lixin Kang, Jing Yang, Degang Sun, Yuxing Liu, Ze Wan, Yi Shan, Dongjie Xue, Chang Su, Shufen Li, null RanYan, Yu Liu, Yonghui Pan, YaShuang Zhao
Association between MAPK and PI3K/Akt signaling pathway-related gene polymorphisms and migraine. Molecular genetics & genomic medicine 12 (8) (2024)
Magan Trottier, Dina Green, Hannah Ovadia, Amanda Catchings, Julia Gruberg, Victoria Groner, Catherine Fanjoy, Sita Dandiker, Kathleen Blazer, Jada G Hamilton, Kenneth Offit
Genetics healthcare providers' experiences counseling patients with results from consumer genomic testing. Molecular genetics & genomic medicine 12 (8) (2024)
Cesar Augusto B Duarte, Carlos Alberto Dos Santos, Cristine Domingues D de Oliveira, Cleverton César Spautz, Laura Masami Sumita, Sueli Massumi Nakatani
Hereditary breast cancer next-generation sequencing panel evaluation in the south region of Brazil: A novel BRCA2 candidate pathogenic variant is reported. Molecular genetics & genomic medicine 12 (8) (2024)
Seon Woo Kim, Hyeon Joo Lee, Naye Choi, Ee-Kyung Kim, Jung Min Ko
Dramatic Clinical Improvement With Biotin Mega-Dose Therapy in a Neonate With Holocarboxylase Synthetase Deficiency. Molecular genetics & genomic medicine 12 (8) (2024)
Magan Trottier, Dina Green, Hannah Ovadia, Amanda Catchings, Julia Gruberg, Victoria Groner, Catherine Fanjoy, Sita Dandiker, Kathleen Blazer, Jada G Hamilton, Kenneth Offit
Genetics healthcare providers' experiences counseling patients with results from consumer genomic testing. Molecular genetics & genomic medicine 12 (8) (2024)
Lulu Yan, Shuxia Ding, Yan He, Bin Fu, Changshui Chen, Hai-Bo Li
Whole paternal uniparental disomy of chromosome 4 with a novel homozygous IDUA splicing variant, c.159-9T>A, in a Chinese patient with mucopolysaccharidosis type I. Molecular genetics & genomic medicine 12 (8) (2024)
Lulu Yan, Shuxia Ding, Yan He, Bin Fu, Changshui Chen, Hai-Bo Li
Whole paternal uniparental disomy of chromosome 4 with a novel homozygous IDUA splicing variant, c.159-9T>A, in a Chinese patient with mucopolysaccharidosis type I. Molecular genetics & genomic medicine 12 (8) (2024)

volume 12, number 9, 2024

Xinyu Yue, Meiping Chen, Xiaoan Ke, Hongbo Yang, Fengying Gong, Linjie Wang, Lian Duan, Hui Pan, Hui-Juan Zhu
Clinical Characteristics, Genetic Analysis, and Literature Review of Cornelia de Lange Syndrome Type 4 Associated With a RAD21 Variant. Molecular genetics & genomic medicine 12 (9) (2024)
Ying Pang, Lan Zeng, Hua Liang, Chunlan Cheng, Lihui Shan, Jin Wang, Nanjing Jiang, Guanghuan Pi, Li Yang, Ai Chen, Fu Xiong, Shuyao Zhu
Proximal 4p Deletion Syndrome in an Infant With Multiple Systemic Anomalies. Molecular genetics & genomic medicine 12 (9) (2024)
Yiming Lin, Zhenzhu Zheng, Weihua Lin, Weilin Peng
Incorporating Next-Generation Sequencing as a Second-Tier Test for Primary Carnitine Deficiency. Molecular genetics & genomic medicine 12 (9) (2024)
Rebecca Finnegan, Mary O'Regan, Máire White, Gianpiero L Cavalleri, Norman Delanty, Katherine A Benson, Marie T Greally
Similarity of Phenotype in Three Male Patients With the c.320A>G Variant in ALG13: Possible Genotype-Phenotype Correlation. Molecular genetics & genomic medicine 12 (9) (2024)
Purevdorj Munkhuu, Munkhtsetseg Bazarragchaa, Purevdorj Ichinkhorloo, Ki-Young Yoo, Enkh-Amar Ayush, Ochbadrakh Batjargal, Erdenebayar Namjil, Sarantuya Jav, Erkhembulgan Purevdorj, Sodnomtsogt Lkhagvasuren
The genetic analysis of eight families with hemophilia B in Mongolia: Identification of two novel mutation. Molecular genetics & genomic medicine 12 (9) (2024)
Xueling Hu, Wei Lin, Zengyuan Luo, Yong Zhong, Xiangcheng Xiao, Rong Tang
Frameshift Mutation in PAX2 Related to Focal Segmental Glomerular Sclerosis: A Case Report and Literature Review. Molecular genetics & genomic medicine 12 (9) (2024)
Ayesha Yousaf, Sairah Yousaf, Asra S Shabbir, Rafia Yousaf, Saima Riazuddin, Rehan S Shaikh, Regie Lyn P Santos-Cortez, Zubair M Ahmed
Identification of rare missense variants in the BSN gene co-segregating with chronic otitis media in a consanguineous Pakistani family. Molecular genetics & genomic medicine 12 (9) (2024)
Djouhayna Dougarem, Yi-Xiao Chen, Yi-Na Sun, He-Feng Huang, Qiong Luo
A Novel Heterozygous Intronic FBN1 Variant Contributes to Aberrant RNA Splicing in Marfan Syndrome. Molecular genetics & genomic medicine 12 (9) (2024)
Elisa J Rahikkala, Jonna Komulainen-Ebrahim, Jussi Pekka Tolonen, Sandra Vorimo, Maria Suo-Palosaari, Päivi Vieira, Johanna Piispala, Johanna Uusimaa, Katri Pylkäs, Tuomo Mantere
Optical Genome Mapping Identifies a Second Xq27.1 Rearrangement Associated With Charcot-Marie-Tooth Neuropathy CMTX3. Molecular genetics & genomic medicine 12 (9) (2024)
Yanfen Ge, Guansheng Zheng, Luhua Xian, Yanfei Luo, Junru Liu, Ting Lin, Wenhao Cui, Yujing Yang, Huizhuang Shan
Analysis of the Haematological Phenotype and Molecular Characteristics of Rare Abnormal Haemoglobin. Molecular genetics & genomic medicine 12 (9) (2024)