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Open access

Research article

First published 2024-2

De novo germline pathogenic variant in Lynch Syndrome: A rare event or the tip of the iceberg?

Clorinda Brignola, Sara Volorio, Giovanna De Vecchi [...]

Tumori Journal

Retricted access

Case report

First published 2019-11

Rapidly Progressive Multisutural Craniosynostosis in a Patient With Jackson-Weiss Syndrome and a De Novo FGFR2 Pathogenic Variant

Karel-Bart Celie, Melissa Yuan, Christopher Cunniff [...]

The Cleft Palate Craniofacial Journal

Open access

Case report

First published 2025

Dias-Logan syndrome with a de novo p.Leu360Profs*212 heterozygous pathogenic variant of BCL11A in a Chinese patient: A case report

Yizhuo Shu, Xiaoling Chen, Zhuoqun Wei [...]

Sage Open Medical Case Reports

Open access

Case report

First published 2024

Focal segmental glomerulosclerosis and neurogenic bladder in a Chinese patient with a novel de novo pathogenic variation in TRIM8 gene: A case report

Di-Yi Luo, Yan Long, Li-Li Liu [...]

Sage Open Medical Case Reports

Open access

Review article

First published 2020-3

A 2020 View on the Genetics of Developmental and Epileptic Encephalopathies

Hannah C. Happ, Gemma L. Carvill

Epilepsy Currents

Retricted access

Research article

First published 2017-2

Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing

K.D. Khandelwal, N. Ishorst, H. Zhou [...]

Journal of Dental Research

Retricted access

Research article

First published 2017-12

A Case of KCNQ2 -Associated Movement Disorder Triggered by Fever

Radhika Dhamija, Howard P. Goodkin, Russell Bailey [...]

Journal of Child Neurology

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Research article

First published 2026

A Novel Association Between Mandibulofacial Dysostosis with Microcephaly and Congenital Diaphragmatic Hernia

Katerina L. Aris, Richard E. Kirschner, Emily Hrach [...]

The Cleft Palate Craniofacial Journal

Retricted access

Research article

First published 2019-06

Identification of a Novel Frameshift Variant of POU3F4 and Genetic Counseling of Korean Incomplete Partition Type III Subjects Based on Detailed Genotypes

Jeong Hun Jang, Jayoung Oh, Jin Hee Han [...]

Genetic Testing and Molecular Biomarkers

Retricted access

Research article

First published 2017-3

Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development

Yulin Chen, Yufei Xu, Guoqiang Li [...]

Journal of Child Neurology

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