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Select item 106906841.

Landscape of genetic infantile epileptic spasms syndrome—A multicenter cohort of 124 children from India

Balamurugan Nagarajan, Vykuntaraju K. Gowda, Sangeetha Yoganathan, Indar Kumar Sharawat, Kavita Srivastava, Nitish Vora, Rahul Badheka, Sumita Danda, Umesh Kalane, Anupriya Kaur, Priyanka Madaan, Sanjiv Mehta, Sandeep Negi, Prateek Kumar Panda, Surekha Rajadhyaksha, Arushi Gahlot Saini, Lokesh Saini, Siddharth Shah, Varunvenkat M. Srinivasan, Renu Suthar, Maya Thomas, Sameer Vyas, Naveen Sankhyan, Jitendra Kumar Sahu

Epilepsia Open. 2023 Dec; 8(4): 1383–1404. Published online 2023 Aug 25. doi: 10.1002/epi4.12811

PMCID:: PMC10690684

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Select item 105931272.

REPRODUCTIVE OPHTHALMOLOGY: The Intersection of Inherited Eye Diseases and Reproductive Technologies

JONG G. PARK, CHRISTINE L. XU, ALLISON BOYD, LUSINE AGHAJANOVA, VINIT B. MAHAJAN, EDWARD H. WOOD

Retina. Author manuscript; available in PMC 2023 Oct 23.

Published in final edited form as: Retina. 2022 Nov 1; 42(11): 2025–2030. doi: 10.1097/IAE.0000000000003591

PMCID:: PMC10593127

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Select item 105302143.

Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice

Constantinos Deltas, Gregory Papagregoriou, Stavroula F. Louka, Apostolos Malatras, Frances Flinter, Daniel P. Gale, Susie Gear, Oliver Gross, Julia Hoefele, Rachel Lennon, Jeffrey H. Miner, Alessandra Renieri, Judy Savige, A. Neil Turner

Genes (Basel) 2023 Sep; 14(9): 1686. Published online 2023 Aug 25. doi: 10.3390/genes14091686

PMCID:: PMC10530214

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Select item 104548234.

Danon Disease: Entire LAMP2 Gene Deletion with Unusual Clinical Presentation—Case Report and Review of the Literature

Adel Shalata, Marina Bar-Shai, Yarin Hadid, Muhammad Mahroum, Hila Mintz, Zaher Eldin Shalata, Evgeny Radzishevsky, Jacob Genizi, Avraham Lorber, Tamar Ben-Yosef, Liat Yaniv

Genes (Basel) 2023 Aug; 14(8): 1539. Published online 2023 Jul 27. doi: 10.3390/genes14081539

PMCID:: PMC10454823

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Select item 104366295.

Genetic and molecular dynamics analysis of two variants of the COL4A5 gene causing Alport syndrome

Lei Liang, Haotian Wu, Zeyu Cai, Jianrong Zhao

BMC Med Genomics. 2023; 16: 192. Published online 2023 Aug 18. doi: 10.1186/s12920-023-01623-7

PMCID:: PMC10436629

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Select item 104227266.

Clinical manifestations and MRI features of Danon disease: a case series

Yang Zhang, Ren Zhao, Yushan Yuan, Yongqiang Yu, Bin Liu, Xiaohu Li

BMC Cardiovasc Disord. 2023; 23: 397. Published online 2023 Aug 11. doi: 10.1186/s12872-023-03356-y

PMCID:: PMC10422726

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Select item 103695887.

Expanding the phenotype of males with OFD1 pathogenic variants-a case report and literature review

Balram Gangaram, W. Patrick Devine, Anne Slavotinek

Eur J Med Genet. Author manuscript; available in PMC 2023 Jul 26.

Published in final edited form as: Eur J Med Genet. 2022 Jun; 65(6): 104496. Published online 2022 Apr 6. doi: 10.1016/j.ejmg.2022.104496

PMCID:: PMC10369588

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Select item 103293748.

Phenotypic variability to medication management: an update on fragile X syndrome

Nasser A. Elhawary, Imad A. AlJahdali, Iman S. Abumansour, Zohor A. Azher, Alaa H. Falemban, Wefaq M. Madani, Wafaa Alosaimi, Ghydda Alghamdi, Ikhlas A. Sindi

Hum Genomics. 2023; 17: 60. Published online 2023 Jul 7. doi: 10.1186/s40246-023-00507-2

PMCID:: PMC10329374

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Select item 101380669.

Phenotypes and Genotypes in Patients with SMC1A-Related Developmental and Epileptic Encephalopathy

Xiuhua L. Bozarth, Jonathan Lopez, He Fang, Jacqueline Lee-Eng, Zhijun Duan, Xinxian Deng

Genes (Basel) 2023 Apr; 14(4): 852. Published online 2023 Mar 31. doi: 10.3390/genes14040852

PMCID:: PMC10138066

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Select item 1005626910.

Current and Future Therapeutical Options in Alport Syndrome

Jana Reiterová, Vladimír Tesař

Int J Mol Sci. 2023 Mar; 24(6): 5522. Published online 2023 Mar 14. doi: 10.3390/ijms24065522

PMCID:: PMC10056269

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Select item 1005277811.

Bain type of X-linked Syndromic Mental Retardation in a Male with a Pathogenic Variant in HNRNPH2

Puneeth H Somashekar, Dhanya Lakshmi Narayanan, Sujatha Jagadeesh, Beena Suresh, Reddy D Vaishnavi, Stephanie Bielas, Katta M Girisha, Anju Shukla

Am J Med Genet A. Author manuscript; available in PMC 2023 Mar 29.

Published in final edited form as: Am J Med Genet A. 2020 Jan; 182(1): 183–188. Published online 2019 Oct 31. doi: 10.1002/ajmg.a.61388

PMCID:: PMC10052778

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Select item 1000990912.

Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole‐exome sequencing: A rare case report and literature review

Jianlong Zhuang, Qi Luo, Meihua Xie, Yu’e Chen, Yuying Jiang, Shuhong Zeng, Yuanbai Wang, Yingjun Xie, Chunnuan Chen

Mol Genet Genomic Med. 2023 Mar; 11(3): e2121. Published online 2022 Dec 11. doi: 10.1002/mgg3.2121

PMCID:: PMC10009909

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Select item 995727713.

Autistic Behavior as Novel Clinical Finding in OFD1 Syndrome

Sorina Mihaela Papuc, Alina Erbescu, Adelina Glangher, Ioana Streata, Anca-Lelia Riza, Magdalena Budisteanu, Aurora Arghir

Genes (Basel) 2023 Feb; 14(2): 327. Published online 2023 Jan 27. doi: 10.3390/genes14020327

PMCID:: PMC9957277

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Select item 993875114.

Nance–Horan syndrome pedigree due to a novel microdeletion and skewed X chromosome inactivation

Yazhou Huang, Linya Ma, Zhaoxia Zhang, Shujuan Nie, Yuan Zhou, Jibo Zhang, Chao Wang, Xingxin Fang, Yingting Quan, Ting He, Anhui Liu, Dan Peng

Mol Genet Genomic Med. 2023 Feb; 11(2): e2100. Published online 2022 Nov 12. doi: 10.1002/mgg3.2100

PMCID:: PMC9938751

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Select item 989390615.

Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia–Alania

Nika Petrova, Inna Tebieva, Vitaly Kadyshev, Zalina Getoeva, Natalia Balinova, Andrey Marakhonov, Tatyana Vasilyeva, Evgeny Ginter, Sergey Kutsev, Rena Zinchenko

PeerJ. 2023; 11: e14514. Published online 2023 Jan 30. doi: 10.7717/peerj.14514

PMCID:: PMC9893906

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Select item 980446916.

Diagnostic yield using whole‐genome sequencing and in‐silico panel of 281 genes associated with non‐immune hydrops fetalis in clinical setting

E. Westenius, E. Sahlin, P. Conner, A. Lindstrand, E. Iwarsson

Ultrasound Obstet Gynecol. 2022 Oct; 60(4): 487–493. Published online 2022 Aug 30. doi: 10.1002/uog.24911

PMCID:: PMC9804469

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Select item 977803217.

Novel and Founder Pathogenic Variants in X-Linked Alport Syndrome Families in Greece

Despina Hadjipanagi, Gregory Papagregoriou, Constantina Koutsofti, Christiana Polydorou, Polichronis Alivanis, Aimilios Andrikos, Stalo Christodoulidou, Manthos Dardamanis, Athanasios A. Diamantopoulos, Anastasios Fountoglou, Eleni Frangou, Eleni Georgaki, Ioannis Giannikouris, Velissarios Gkinis, Pavlos C. Goudas, Rigas G. Kalaitzidis, Nikolaos Kaperonis, Georgios Koutroumpas, George Makrydimas, Grigorios Myserlis, Andromachi Mitsioni, Christos Paliouras, Fotios Papachristou, Dorothea Papadopoulou, Nikolaos Papagalanis, Aikaterini Papagianni, Garyfalia Perysinaki, Ekaterini Siomou, Konstantinos Sombolos, Ioannis Tzanakis, Georgios V. Vergoulas, Nicoletta Printza, Constantinos Deltas

Genes (Basel) 2022 Dec; 13(12): 2203. Published online 2022 Nov 24. doi: 10.3390/genes13122203

PMCID:: PMC9778032

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Select item 977124118.

Frontier and hotspot evolution in Wiskott–Aldrich syndrome: A bibliometric analysis from 2001 to 2021

Shixu Liu, Xiaoyan Yao, Kun Xia, Jinzhi Zhang, Yanyi Liu, Xiao Xia, Guangxi Li

Medicine (Baltimore) 2022 Dec 16; 101(50): e32347. Published online 2022 Dec 16. doi: 10.1097/MD.0000000000032347

PMCID:: PMC9771241

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Select item 974825319.

TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions

Hadia Hijazi, Linda M. Reis, Davut Pehlivan, Jonathan A. Bernstein, Michael Muriello, Erin Syverson, Devon Bonner, Mehrdad A. Estiar, Ziv Gan-Or, Guy A. Rouleau, Ekaterina Lyulcheva, Lynn Greenhalgh, Marine Tessarech, Estelle Colin, Agnès Guichet, Dominique Bonneau, R.H. van Jaarsveld, A.M.A. Lachmeijer, Lyse Ruaud, Jonathan Levy, Anne-Claude Tabet, Rafal Ploski, Małgorzata Rydzanicz, Łukasz Kępczyński, Katarzyna Połatyńska, Yidan Li, Jawid M. Fatih, Dana Marafi, Jill A. Rosenfeld, Zeynep Coban-Akdemir, Weimin Bi, Richard A. Gibbs, Grace M. Hobson, Jill V. Hunter, Claudia M.B. Carvalho, Jennifer E. Posey, Elena V. Semina, James R. Lupski

Am J Hum Genet. 2022 Dec 1; 109(12): 2270–2282. Published online 2022 Nov 10. doi: 10.1016/j.ajhg.2022.10.007

PMCID:: PMC9748253

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Select item 969090420.

Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome

Liselot van der Laan, Kathleen Rooney, Mariëlle Alders, Raissa Relator, Haley McConkey, Jennifer Kerkhof, Michael A. Levy, Peter Lauffer, Mio Aerden, Miel Theunis, Eric Legius, Matthew L. Tedder, Lisenka E. L. M. Vissers, Saskia Koene, Claudia Ruivenkamp, Mariette J. V. Hoffer, Dagmar Wieczorek, Nuria C. Bramswig, Theresia Herget, Vanesa López González, Fernando Santos-Simarro, Pernille M. Tørring, Anne-Sophie Denomme-Pichon, Bertrand Isidor, Boris Keren, Sophie Julia, Elise Schaefer, Christine Francannet, Pierre-Yves Maillard, Mala Misra-Isrie, Hilde Van Esch, Marcel M. A. M. Mannens, Bekim Sadikovic, Mieke M. van Haelst, Peter Henneman

Int J Mol Sci. 2022 Nov; 23(22): 13664. Published online 2022 Nov 8. doi: 10.3390/ijms232213664

PMCID:: PMC9690904

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