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Select item 112391761.

Human HPSE2 gene transfer ameliorates bladder pathophysiology in a mutant mouse model of urofacial syndrome

Filipa M Lopes, Celine Grenier, Benjamin W Jarvis, Sara Al Mahdy, Adrian Lène-McKay, Alison M Gurney, William G Newman, Simon N Waddington, Adrian S Woolf, Neil A Roberts

eLife. 2024; 13: RP91828. Published online 2024 Jul 11. doi: 10.7554/eLife.91828

PMCID:: PMC11239176

Abstract Article PDF–6.6M

Select item 112347762.

Trichohepatoenteric syndrome type 1: expanding the clinical spectrum of THES type 1 due to a homozygous variant in the SKIC3 gene

Abdullah Alrammal, Rashed Aljundi, Sedra Abu Ghedda, Buthaina Mustafa AlMurbati

BMC Pediatr. 2024; 24: 444. Published online 2024 Jul 10. doi: 10.1186/s12887-024-04924-7

PMCID:: PMC11234776

Abstract Article PDF–656K

Select item 112249633.

A case of inherited glycosylphosphatidylinositol deficiency caused by PGAP3 variant with uniparental isodisomy on chromosome 17

Takeo Mukai, Shota Kato, Hiroyuki Tanaka, Yukiko Kuroda, Hiroki Kitaoka, Atsushi Ito, Yoshihiko Shitara, Kohei Kashima, Hirokazu Takami, Naoto Takahashi, Motohiro Kato

Mol Genet Genomic Med. 2024 Jul; 12(7): e2452. Published online 2024 Jul 5. doi: 10.1002/mgg3.2452

PMCID:: PMC11224963

Abstract Article PDF–3.3M

Select item 112086054.

Tracing the invisible mutant ADNP protein in Helsmoortel-Van der Aa syndrome patients

Claudio Peter D’Incal, Elisa Cappuyns, Kaoutar Choukri, Kevin De Man, Kristy Szrama, Anthony Konings, Lina Bastini, Kim Van Meel, Amber Buys, Michele Gabriele, Ludovico Rizzuti, Alessandro Vitriolo, Giuseppe Testa, Fabio Mohn, Marc Bühler, Nathalie Van der Aa, Anke Van Dijck, R. Frank Kooy, Wim Vanden Berghe

Sci Rep. 2024; 14: 14710. Published online 2024 Jun 26. doi: 10.1038/s41598-024-65608-x

PMCID:: PMC11208605

Abstract Article PDF–9.9M

Select item 111937755.

Deciphering the etiology of undiagnosed ocular anomalies along with systemic alterations in pediatric patients through whole exome sequencing

Miriam E. Reyna-Fabián, Liliana Fernández-Hernández, Sergio Enríquez-Flores, David Apam-Garduño, Carolina Prado-Larrea, Go Hun Seo, Rin Khang, Vianney Cortés-González

Sci Rep. 2024; 14: 14380. Published online 2024 Jun 22. doi: 10.1038/s41598-024-65227-6

PMCID:: PMC11193775

Abstract Article PDF–2.0M

Select item 111575986.

Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype

Valerie Gartner, Thomas C. Markello, Ellen Macnamara, Andrea De Biase, Audrey Thurm, Lisa Joseph, Alan Beggs, Jeremy D. Schmahmann, Gerard T. Berry, Irina Anselm, Emma Boslet, Cynthia J. Tifft, William A. Gahl, Paul R. Lee

Am J Med Genet A. Author manuscript; available in PMC 2024 Jun 7.

Published in final edited form as: Am J Med Genet A. 2018 Dec; 176(12): 2768–2776. Published online 2018 Dec 11. doi: 10.1002/ajmg.a.40628

PMCID:: PMC11157598

Abstract Article PDF–849K

Select item 111535157.

Identification of the DNA methylation signature of Mowat-Wilson syndrome

Stefano Giuseppe Caraffi, Liselot van der Laan, Kathleen Rooney, Slavica Trajkova, Roberta Zuntini, Raissa Relator, Sadegheh Haghshenas, Michael A. Levy, Chiara Baldo, Giorgia Mandrile, Carolyn Lauzon, Duccio Maria Cordelli, Ivan Ivanovski, Anna Fetta, Elena Sukarova, Alfredo Brusco, Lisa Pavinato, Verdiana Pullano, Marcella Zollino, Haley McConkey, Marco Tartaglia, Giovanni Battista Ferrero, Bekim Sadikovic, Livia Garavelli

Eur J Hum Genet. 2024 Jun; 32(6): 619–629. Published online 2024 Feb 13. doi: 10.1038/s41431-024-01548-4

PMCID:: PMC11153515

Abstract Article PDF–3.6M

Select item 111358988.

A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report

Adriana Amaral Carvalho, Renato Assis Machado, Célia Márcia Fernandes Maia, Luis Antônio Nogueira dos Santos, Daniella Reis Barbosa Martelli, Ricardo Della Coletta, Hercílio Martelli, Júnior

Rev Paul Pediatr. 2024; 42: e2022189. Published online 2024 May 27. doi: 10.1590/1984-0462/2024/42/2022189

PMCID:: PMC11135898

Abstract Article PDF–613K

Select item 111128749.

Expanding the phenotype in Pitt-Hopkins syndrome; description of new oral finding and dental management considerations

Yazan Hassona, Dua’a Alqaisi, Asma Alkilani, Iyas AbuHijleh

BMC Oral Health. 2024; 24: 597. Published online 2024 May 22. doi: 10.1186/s12903-024-04296-5

PMCID:: PMC11112874

Abstract Article PDF–1003K

Select item 1110224910.

Comparisons between wrinkles and photo-ageing detected and self-reported by the participant or identified by trained assessors reveal insights from Chinese individuals in the Singapore/Malaysia Cross-sectional Genetics Epidemiology Study (SMCGES) cohort

Jun Yan Ng, Hongyu Zhou, Tianqi Li, Fook Tim Chew

J Physiol Anthropol. 2024; 43: 14. Published online 2024 May 18. doi: 10.1186/s40101-024-00361-8

PMCID:: PMC11102249

Abstract Article PDF–6.4M

Select item 1109530511.

Sirenomelia: An anatomical assessment and genetic sex determination of two cases

Stephanie L. Vander Pol, Jennifer J. MacKenzie, Karen J. Harrison, Conrad W. Reifel, Roger M. L. Smith, Logan Bale, Stephen C. Pang, Sherry A. M. Taylor

J Anat. 2024 Jun; 244(6): 1093–1101. Published online 2024 Jan 24. doi: 10.1111/joa.14015

PMCID:: PMC11095305

Abstract Article PDF–2.6M

Select item 1107774712.

Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome

Neus Baena, David Monk, Cinthia Aguilera, Mario F. Fraga, Agustín F. Fernández, Elisabeth Gabau, Raquel Corripio, Nuria Capdevila, Juan Pablo Trujillo, Anna Ruiz, Miriam Guitart

Clin Epigenetics. 2024; 16: 62. Published online 2024 May 7. doi: 10.1186/s13148-024-01652-8

PMCID:: PMC11077747

Abstract Article PDF–1.4M

Select item 1107756613.

Causal relationship between dyslipidemia and risk of facial aging: Insights from Mendelian randomization in East Asian populations

Yu Deng, Chuan Li, Ailin Luo, Yang Qiu, Mei Yang

Skin Res Technol. 2024 May; 30(5): e13717. Published online 2024 May 8. doi: 10.1111/srt.13717

PMCID:: PMC11077566

Abstract Article PDF–1.1M

Select item 1107125314.

An adolescent case of ASXL3-related disorder with delayed onset of feeding difficulty

Yuto Arai, Tohru Okanishi, Tetsuya Okazaki, Hiroyuki Awano, Rie Seyama, Yuri Uchiyama, Naomichi Matsumoto, Akiko Tamasaki, Yoshihiro Maegaki

BMC Pediatr. 2024; 24: 308. Published online 2024 May 6. doi: 10.1186/s12887-024-04774-3

PMCID:: PMC11071253

Abstract Article PDF–1.2M

Select item 1106811015.

Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics

Raffaella De Pace, Reza Maroofian, Adeline Paimboeuf, Mina Zamani, Maha S Zaki, Saeid Sadeghian, Reza Azizimalamiri, Hamid Galehdari, Jawaher Zeighami, Chad D Williamson, Emily Fleming, Dihong Zhou, Jennifer L Gannon, Isabelle Thiffault, Emmanuel Roze, Mohnish Suri, Giovanni Zifarelli, Peter Bauer, Henry Houlden, Mariasavina Severino, Shunmoogum A Patten, Emily Farrow, Juan S Bonifacino

Brain. 2024 May; 147(5): 1751–1767. Published online 2023 Dec 21. doi: 10.1093/brain/awad427

PMCID:: PMC11068110

Abstract Article PDF–2.0M

Select item 1105908616.

Gonadal dysfunction in a man with Noonan syndrome from the LZTR1 variant: case report and review of literature

Francesca Orsolini, Luisa Pignata, Fulvia Baldinotti, Silvia Romano, Massimo Tonacchera, Domenico Canale

Front Endocrinol (Lausanne) 2024; 15: 1354699. Published online 2024 Apr 16. doi: 10.3389/fendo.2024.1354699

PMCID:: PMC11059086

Abstract Article PDF–929K

Select item 1104432617.

Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A

Fabio Sippelli, Silvana Briuglia, Chiara Ferraloro, Anna Paola Capra, Emanuele Agolini, Tiziana Abbate, Giorgia Pepe, Tommaso Aversa, Malgorzata Wasniewska, Domenico Corica

BMC Pediatr. 2024; 24: 271. Published online 2024 Apr 25. doi: 10.1186/s12887-024-04761-8

PMCID:: PMC11044326

Abstract Article PDF–981K

Select item 1103258718.

A novel variant in NSUN2 causes intellectual disability in a Chinese family

Qi Yang, Qiang Zhang, Zailong Qin, Shang Yi, Jingsi Luo

BMC Med Genomics. 2024; 17: 95. Published online 2024 Apr 20. doi: 10.1186/s12920-024-01883-x

PMCID:: PMC11032587

Abstract Article PDF–990K

Select item 1097798319.

Increasing histone acetylation improves sociability and restores learning and memory in KAT6B-haploinsufficient mice

Maria I. Bergamasco, Hannah K. Vanyai, Alexandra L. Garnham, Niall D. Geoghegan, Adam P. Vogel, Samantha Eccles, Kelly L. Rogers, Gordon K. Smyth, Marnie E. Blewitt, Anthony J. Hannan, Tim Thomas, Anne K. Voss

J Clin Invest. 2024 Apr 1; 134(7): e167672. Published online 2024 Apr 1. doi: 10.1172/JCI167672

PMCID:: PMC10977983

Abstract Article PDF–28M

Select item 1095817920.

Further delineation of Wiedemann‐Rautenstrauch syndrome linked with POLR3A

Amjad Khan, Bushra Al Shamsi, Maryam Al Shehhi, Amna A. Kashgari, Aaisha Al Balushi, Fahad A. Al Dihan, Mohannad A. Alghamdi, Abothnain Manal, Ana C. González‐Álvarez, Stefan T. Arold, Wafaa Eyaid

Mol Genet Genomic Med. 2024 Mar; 12(3): e2274. Published online 2024 Feb 13. doi: 10.1002/mgg3.2274

PMCID:: PMC10958179

Abstract Article PDF–1.2M

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