Research Articleposted Mar 29, 2023
Applications of non-invasive prenatal testing in 91280 spontaneous pregnancies and 3477 pregnant women undergoing in vitro Fertilization
Rong Wei Wei, Jingran Li, Xinran Lu, Miaomiao Zhang, Yuqin Fang, Yuanyuan Xia, Chaohong Wang, and 1 more authors
Under Review
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Research Articleposted Mar 09, 2023
Fluorescent In Situ Hybridisation (FISH) as a Follow-up Test for Postnatal Microarray Results
Rachna Sooknanan, Fiona K Baine, Sandra Ayuk
Under Review
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Case Reportposted Feb 13, 2023
Prenatal diagnosis of Down syndrome combined with transient abnormal myelopoiesis in foetuses with a GATA1 gene variant: Two case reports
TANG HUI, JINGJING HU, Ling Liu, Lijuan Lv, Jian Lu, Jiexia Yang, Jiaqi Lu, and 5 more authors
Under Review
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Case Reportposted Feb 03, 2023
Preimplantation Genetic Testing for Aicardi–Goutières Syndrome Induced by Novel Compound Heterozygous Mutations of TREX1: an unaffected Live Birth
Huiling Xu, JiaJie Pu, SuiLing Lin, Rui Hu, JiLong Yao, XueMei Li
Under Review
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Research Articleposted Feb 01, 2023
17q25.3 copy number changes: association with neurodevelopmental disorders and cardiac malformation
Nikhil Shri Sahajpal, David Jeffrey, Barbara R. DuPont, Benjamin A. Hilton
Under Revision
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Case Reportposted Dec 01, 2022
A treatment-refractory and aggressive MDS-MLD with multiple highly complex chromosome 5 intrachromosomal rearrangements: a case report
Ramakrishnan Sasi, Jamie Senft, Michelle Spruill, Subit Barua, Sam Dougaparsad, Jeffrey A. Vos, Peter L. Perrotta
Under Review
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Case Reportposted Nov 22, 2022
Disruption in SLCO5A1 gene by a balanced chromosomal translocation t(1;8)(p32.2;q13). Another evidence of the need for combined haploinsufficiency of genes SLCO5A1 and SULF1 genes as a cause of mesomelia-synostosis syndrome. Clinical and cytogenetic considerations.
Ingrid Bendas Feres Lima, Lúcia de Fátima Marques de Moraes, Carlos Roberto da Fonseca, Juan Juan Clinton Llerena Jr, Niels Tommerup, Elenice Ferreira Bastos
Under Revision
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Research Articleposted Nov 08, 2022
Frequent copy number variants in a cohort of Mexican-Mestizo individuals
Silvia Sánchez, Ulises Juárez, Julieta Domínguez, Bertha Molina, Rehotbevely Barrientos, Angélica Martínez-Hernández, Alessandra Carnevale, and 8 more authors
Under Review
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Case Reportposted Aug 29, 2022
Haploinsufficiencies of FOXF1, FOXC2 and FOXL1 genes originated from deleted 16q24.1q24.2 fragment related with alveolar capillary dysplasia with misalignment of pulmonary veins and lymphedema–distichiasis syndrome: relationship to phenotype
Xuezhen Wang, Lili Guo, Bei Zhang, Jiebin Wu, Yu Sun, Huimin Tao, Jing Sha, and 2 more authors
Under Review
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Case Reportposted Aug 17, 2022
Prenatal diagnosis and genetic counseling of a paternally inherited microduplication 18q11.1 to 18q11.2 in a Chinese family
Juan Chen, Ying Zhang, Mingxi Zhang
Under Review
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