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Select item 109788781.

The SARS-CoV-2 neutralizing antibody response to SD1 and its evasion by BA.2.86

Daming Zhou, Piyada Supasa, Chang Liu, Aiste Dijokaite-Guraliuc, Helen M. E. Duyvesteyn, Muneeswaran Selvaraj, Alexander J. Mentzer, Raksha Das, Wanwisa Dejnirattisai, Nigel Temperton, Paul Klenerman, Susanna J. Dunachie, Elizabeth E. Fry, Juthathip Mongkolsapaya, Jingshan Ren, David I. Stuart, Gavin R. Screaton

Nat Commun. 2024; 15: 2734. Published online 2024 Mar 28. doi: 10.1038/s41467-024-46982-6

PMCID:: PMC10978878

Article PDF–3.2M

Select item 109524832.

Dysregulation of Grainyhead‐like 3 expression causes widespread developmental defects

Zihao Deng, Tariq Butt, Benedicta D. Arhatari, Charbel Darido, Alana Auden, Dijina Swaroop, Darren D. Partridge, Katharina Haigh, Thao Nguyen, Jody J. Haigh, Marina R. Carpinelli, Stephen M. Jane

Dev Dyn. 2023 May; 252(5): 647–667. Published online 2023 Jan 19. doi: 10.1002/dvdy.565

PMCID:: PMC10952483

Article PDF–23M

Select item 109066943.

Type 1 diabetes in a patient with Ellis-van Creveld syndrome

Carla Graziadio, Pricila Bernardi, Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen, Giorgio Adriano Paskulin

Sao Paulo Med J. 2012; 130(1): 53–56. Published online 2012 Feb 13. doi: 10.1590/S1516-31802012000100009

PMCID:: PMC10906694

Article PDF–406K

Select item 107720714.

Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism

Patrick Yap, Lisa G. Riley, Purvi M. Kakadia, Stefan K. Bohlander, Ben Curran, Meer Jacob Rahimi, Salam Alburaiky, Ian Hayes, Henry Oppermann, Cristin Print, Sandra T. Cooper, Polona Le Quesne Stabej

Eur J Hum Genet. 2024 Jan; 32(1): 125–129. Published online 2023 Nov 6. doi: 10.1038/s41431-023-01484-9

PMCID:: PMC10772071

Article PDF–1.3M

Select item 107245085.

A somatic splice‐site variant in PIK3R1 in a patient with vascular overgrowth and low immunoglobulin levels: A case report

Matheus V. M. B. Wilke, Lisa Schimmenti, Madeline Q. R. Lopour, Megha M. Tollefson, Eric W. Klee

Mol Genet Genomic Med. 2023 Dec; 11(12): e2271. Published online 2023 Aug 28. doi: 10.1002/mgg3.2271

PMCID:: PMC10724508

Article PDF–1.7M

Select item 105672096.

A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family

Ghazanfar Ali, Sadia Sadia, Syeda Ain-ul- Batool, Zahid Azeem, Naheed Bashir Awan, Syed Akif Raza Kazmi, Zia- Ur- Rehman, Zeeshan Anjum, Fazal- Ur- Rehman, Abdul Wali, Kafaitullah Khan, Nasib Zaman, Muhammad Ayub, Muhammad Sajid, Noor Hassan

Genet Res (Camb) 2023; 2023: 9999660. Published online 2023 Oct 4. doi: 10.1155/2023/9999660

PMCID:: PMC10567209

Article PDF–1.3M

Select item 104072387.

Current updates on arrhythmia within Timothy syndrome: genetics, mechanisms and therapeutics

Congshan Jiang, Yanmin Zhang

Expert Rev Mol Med. 2023; 25: e17. Published online 2023 May 3. doi: 10.1017/erm.2023.11

PMCID:: PMC10407238

Article PDF–580K

Select item 104045048.

A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1

Bibi Hajra, Abdullah, Nousheen Bibi, Fibhaa Syed, Asmat Ullah, Wasim Ahmad, Umm-e-Kalsoom

An Bras Dermatol. 2023 Sep-Oct; 98(5): 580–586. Published online 2023 May 12. doi: 10.1016/j.abd.2022.07.009

PMCID:: PMC10404504

Article PDF–2.3M

Select item 102659479.

Identification of broad, potent antibodies to functionally constrained regions of SARS-CoV-2 spike following a breakthrough infection

Jamie Guenthoer, Michelle Lilly, Tyler N. Starr, Bernadeta Dadonaite, Klaus N. Lovendahl, Jacob T. Croft, Caitlin I. Stoddard, Vrasha Chohan, Shilei Ding, Felicitas Ruiz, Mackenzie S. Kopp, Andrés Finzi, Jesse D. Bloom, Helen Y. Chu, Kelly K. Lee, Julie Overbaugh

Proc Natl Acad Sci U S A. 2023 Jun 6; 120(23): e2220948120. Published online 2023 May 30. doi: 10.1073/pnas.2220948120

PMCID:: PMC10265947

Article PDF–1.5M

Select item 1013768810.

A Complex Intrachromosomal Rearrangement Disrupting IRF6 in a Family with Popliteal Pterygium and Van der Woude Syndromes

Alya A. Al-Kurbi, Elbay Aliyev, Sana AlSa’afin, Waleed Aamer, Sasirekha Palaniswamy, Aljazi Al-Maraghi, Houda Kilani, Ammira Al-Shabeeb Akil, Mitchell A. Stotland, Khalid A. Fakhro

Genes (Basel) 2023 Apr; 14(4): 849. Published online 2023 Mar 31. doi: 10.3390/genes14040849

PMCID:: PMC10137688

Article PDF–2.5M

Select item 1006588111.

Heart Rate Variability Analysis May Identify Individuals With Williams-Beuren Syndrome At Risk Of Sudden Death

Mark D. Levin, Brianna M. Cathey, Kevin Smith, Sharon Osgood, Neelam Raja, Yi-Ping Fu, Beth A. Kozel

JACC Clin Electrophysiol. Author manuscript; available in PMC 2024 Mar 1.

Published in final edited form as: JACC Clin Electrophysiol. 2023 Mar; 9(3): 359–370. Published online 2022 Nov 30. doi: 10.1016/j.jacep.2022.10.010

PMCID:: PMC10065881

Article PDF–1.4M

Select item 1003928412.

A Novel Variant Affecting the Cytoplasmic Tail of the FAT1 Protocadherin Causing Coloboma and Renal Failure: A Case Report

Emile R. Vieta-Ferrer, Ehsan Ullah, Delphine Blain, Julie A. Christensen, Carmen C. Brewer, James E. Balow, Aman George, Robert B. Hufnagel, Tiziana Cogliati, Brian P. Brooks

Ophthalmic Genet. Author manuscript; available in PMC 2024 Apr 1.

Published in final edited form as: Ophthalmic Genet. 2023 Apr; 44(2): 182–185. Published online 2023 Feb 22. doi: 10.1080/13816810.2022.2089360

PMCID:: PMC10039284

Article PDF–595K

Select item 1000991313.

A newborn male with Myhre syndrome, hearing loss, and complete syndactyly of fingers 3–4

Kun Yang, Xi Wang, Wei‐Qian Wang, Ming‐Yu Han, Li‐Min Hu, Dong‐Yang Kang, Jin‐Yuan Yang, Min Liu, Xue Gao, Yong‐Yi Yuan, Jin‐Cao Xu

Mol Genet Genomic Med. 2023 Mar; 11(3): e2103. Published online 2022 Nov 14. doi: 10.1002/mgg3.2103

PMCID:: PMC10009913

Article PDF–1.6M

Select item 992155014.

Validation of Knock-Out Caco-2 TC7 Cells as Models of Enterocytes of Patients with Familial Genetic Hypobetalipoproteinemias

Claire Bordat, Donato Vairo, Charlotte Cuerq, Charlotte Halimi, Franck Peiretti, Armelle Penhoat, Aurélie Vieille-Marchiset, Teresa Gonzalez, Marie-Caroline Michalski, Marion Nowicki, Noël Peretti, Emmanuelle Reboul

Nutrients. 2023 Feb; 15(3): 505. Published online 2023 Jan 18. doi: 10.3390/nu15030505