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Select item 110443491.

Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder

Itay Tokatly Latzer, Jean-Baptiste Roullet, Wardiya Afshar-Saber, Henry H. C. Lee, Mariarita Bertoldi, Gabrielle E. McGinty, Melissa L. DiBacco, Erland Arning, Melissa Tsuboyama, Alexander Rotenberg, Thomas Opladen, Kathrin Jeltsch, Àngels García-Cazorla, Natalia Juliá-Palacios, K. Michael Gibson, Mustafa Sahin, Phillip L. Pearl

J Neurodev Disord. 2024; 16: 21. Published online 2024 Apr 24. doi: 10.1186/s11689-024-09538-9

PMCID:: PMC11044349

Abstract Article PDF–4.2M

Select item 110273392.

ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel–Van der Aa syndrome autopsy case

Claudio D’Incal, Anke Van Dijck, Joe Ibrahim, Kevin De Man, Lina Bastini, Anthony Konings, Ellen Elinck, lllana Gozes, Zlatko Marusic, Mirna Anicic, Jurica Vukovic, Nathalie Van der Aa, Ligia Mateiu, Wim Vanden Berghe, R. Frank Kooy

Acta Neuropathol Commun. 2024; 12: 62. Published online 2024 Apr 18. doi: 10.1186/s40478-024-01743-w

PMCID:: PMC11027339

Abstract Article PDF–9.9M

Select item 109526353.

Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome

Emma K. Baker, Marta Arpone, Minh Bui, Claudine M. Kraan, Ling Ling, David Francis, Mathew F. Hunter, Carolyn Rogers, Michael J. Field, Lorena Santa María, Víctor Faundes, Bianca Curotto, Paulina Morales, Cesar Trigo, Isabel Salas, Angelica M. Alliende, David J. Amor, David E. Godler

Am J Med Genet A. 2023 Feb; 191(2): 357–369. Published online 2022 Nov 8. doi: 10.1002/ajmg.a.63027

PMCID:: PMC10952635

Abstract Article PDF–2.2M

Select item 109398754.

Clinical variants paired with phenotype: A rich resource for brain gene curation

Maya Chopra, Juliann M. Savatt, Taylor I. Bingaman, Molly E. Good, Alexis Morgan, Caitlin Cooney, Allison M. Rossel, Bryanna VanHoute, Ineke Cordova, Sonal Mahida, Virginia Lanzotti, Dustin Baldridge, Christina A. Gurnett, Joseph Piven, Heather Hazlett, Scott L. Pomeroy, Mustafa Sahin, Philip R.O. Payne, Erin Rooney Riggs, John N. Constantino, behalf of the Brain Gene Registry Consortium

Genet Med. Author manuscript; available in PMC 2024 Mar 14.

Published in final edited form as: Genet Med. 2024 Mar; 26(3): 101035. Published online 2023 Dec 4. doi: 10.1016/j.gim.2023.101035

PMCID:: PMC10939875

Abstract Article PDF–882K

Select item 107398285.

Combining chromosomal microarray and clinical exome sequencing for genetic diagnosis of intellectual disability

Jaewon Kim, Jaewoong Lee, Dae-Hyun Jang

Sci Rep. 2023; 13: 22807. Published online 2023 Dec 20. doi: 10.1038/s41598-023-50285-z

PMCID:: PMC10739828

Abstract Article PDF–1.3M

Select item 106900116.

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders

Reza Maroofian, Rauan Kaiyrzhanov, Elisa Cali, Mina Zamani, Maha S Zaki, Matteo Ferla, Domenico Tortora, Saeid Sadeghian, Saadia Maryam Saadi, Uzma Abdullah, Ehsan Ghayoor Karimiani, Stephanie Efthymiou, Gözde Yeşil, Shahryar Alavi, Aisha M Al Shamsi, Homa Tajsharghi, Mohamed S Abdel-Hamid, Nebal Waill Saadi, Fuad Al Mutairi, Lama Alabdi, Christian Beetz, Zafar Ali, Mehran Beiraghi Toosi, Sabine Rudnik-Schöneborn, Meisam Babaei, Pirjo Isohanni, Jameel Muhammad, Sheraz Khan, Maha Al Shalan, Scott E Hickey, Daphna Marom, Emil Elhanan, Manju A Kurian, Dana Marafi, Alihossein Saberi, Mohammad Hamid, Robert Spaull, Linyan Meng, Seema Lalani, Shazia Maqbool, Fatima Rahman, Jürgen Seeger, Timothy Blake Palculict, Tracy Lau, David Murphy, Niccolo Emanuele Mencacci, Katharina Steindl, Anais Begemann, Anita Rauch, Sinan Akbas, Ayça Dilruba Aslanger, Vincenzo Salpietro, Hammad Yousaf, Shay Ben-Shachar, Katarina Ejeskär, Aida I Al Aqeel, Frances A High, Amy E Armstrong-Javors, Seyed Mohammadsaleh Zahraei, Tahereh Seifi, Jawaher Zeighami, Gholamreza Shariati, Alireza Sedaghat, Samaneh Noroozi Asl, Mohmmad Shahrooei, Giovanni Zifarelli, Lydie Burglen, Claudia Ravelli, Johannes Zschocke, Ulrich A Schatz, Maryam Ghavideldarestani, Walaa A Kamel, Hilde Van Esch, Annette Hackenberg, Jenny C Taylor, Lihadh Al-Gazali, Peter Bauer, Joseph J Gleeson, Fowzan Sami Alkuraya, James R Lupski, Hamid Galehdari, Reza Azizimalamiri, Wendy K Chung, Shahid Mahmood Baig, Henry Houlden, Mariasavina Severino

Brain. 2023 Dec; 146(12): 5031–5043. Published online 2023 Jul 30. doi: 10.1093/brain/awad257

PMCID:: PMC10690011

Abstract Article PDF–1.1M

Select item 106849347.

Proteome profiling identifies circulating biomarkers associated with hepatic steatosis in subjects with Prader-Willi syndrome

Devis Pascut, Pablo J. Giraudi, Cristina Banfi, Stefania Ghilardi, Claudio Tiribelli, Adele Bondesan, Diana Caroli, Alessandro Minocci, Graziano Grugni, Alessandro Sartorio

Front Endocrinol (Lausanne) 2023; 14: 1254778. Published online 2023 Nov 15. doi: 10.3389/fendo.2023.1254778

PMCID:: PMC10684934

Abstract Article PDF–6.9M

Select item 106411968.

Long-term Observation of a Japanese Patient with a Multiple-system Neurodegenerative Disorder with a Uniallelic de novo Missense Variant in KIF1A

Katsuya Nakamura, Tsuneaki Yoshinaga, Minori Kodaira, Emiko Kise, Tomoki Kosho, Yoshiki Sekijima

Intern Med. 2023 Oct 15; 62(20): 3047–3051. Published online 2023 Mar 8. doi: 10.2169/internalmedicine.1184-22

PMCID:: PMC10641196

Abstract Article PDF–1.6M

Select item 106370199.

A single-center observational study on long-term neurodevelopmental outcomes in children with tuberous sclerosis complex

D. Mammadova, J. Vecko, M. Hofmann, S. C. Schüssler, L. Deiters, A. Canda, A. K. Wieland, S. Gollwitzer, H. Hamer, Regina Trollmann

Orphanet J Rare Dis. 2023; 18: 349. Published online 2023 Nov 9. doi: 10.1186/s13023-023-02959-0

PMCID:: PMC10637019

Abstract Article PDF–953K

Select item 1036257510.

Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice

María Juliana Ballesta-Martínez, Virginia Pérez-Fernández, Vanesa López-González, María José Sánchez-Soler, Ana Teresa Serrano-Antón, Lidia Isolina Rodríguez-Peña, Maria Barreda-Sánchez, Lluís Armengol-Dulcet, Encarna Guillén-Navarro

Orphanet J Rare Dis. 2023; 18: 201. Published online 2023 Jul 21. doi: 10.1186/s13023-023-02809-z

PMCID:: PMC10362575

Abstract Article PDF–1.0M

Select item 1034212711.

Defining the 3′Epigenetic Boundary of the FMR1 Promoter and Its Loss in Individuals with Fragile X Syndrome

David E. Godler, Yoshimi Inaba, Minh Q. Bui, David Francis, Cindy Skinner, Charles E. Schwartz, David J. Amor

Int J Mol Sci. 2023 Jul; 24(13): 10712. Published online 2023 Jun 27. doi: 10.3390/ijms241310712

PMCID:: PMC10342127

Abstract Article PDF–4.4M

Select item 1033244312.

Fluorescence in situ hybridization (FISH) as an irreplaceable diagnostic tool for Williams-Beuren syndrome in developing countries: a literature review

Bianca Soares Carlotto, Desirée Deconte, Bruna Lixinski Diniz, Priscila Ramires da Silva, Paulo Ricardo Gazzola Zen, André Anjos da Silva

Rev Paul Pediatr. 2024; 42: e2022125. Published online 2023 Jul 10. doi: 10.1590/1984-0462/2023/41/2022125

PMCID:: PMC10332443

Abstract Article PDF–732K

Select item 1025242013.

Narrative Review: Update on the Molecular Diagnosis of Fragile X Syndrome

Cristian-Gabriel Ciobanu, Irina Nucă, Roxana Popescu, Lucian-Mihai Antoci, Lavinia Caba, Anca Viorica Ivanov, Karina-Alexandra Cojocaru, Cristina Rusu, Cosmin-Teodor Mihai, Monica-Cristina Pânzaru

Int J Mol Sci. 2023 Jun; 24(11): 9206. Published online 2023 May 24. doi: 10.3390/ijms24119206

PMCID:: PMC10252420

Abstract Article PDF–1.0M

Select item 1017233514.

Expanding the speech and language phenotype in Koolen-de Vries syndrome: late onset and periodic stuttering a novel feature

Miya St John, Olivia van Reyk, David A. Koolen, Bert B. A. de Vries, David J. Amor, Angela T. Morgan

Eur J Hum Genet. 2023 May; 31(5): 531–540. Published online 2022 Dec 19. doi: 10.1038/s41431-022-01230-7

PMCID:: PMC10172335

Abstract Article PDF–1.2M

Select item 1009407315.

KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature

Yunha Choi, Jungmin Choi, Hyosang Do, Soojin Hwang, Go Hun Seo, In Hee Choi, Changwon Keum, Jin‐Ho Choi, Minji Kang, Gu‐Hwan Kim, Han‐Wook Yoo, Beom Hee Lee

Mol Genet Genomic Med. 2023 Apr; 11(4): e2127. Published online 2022 Dec 23. doi: 10.1002/mgg3.2127

PMCID:: PMC10094073

Abstract Article PDF–2.1M

Select item 995752216.

Genotype–Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review

Eva-Cristiana Gavril, Irina Nucă, Monica-Cristina Pânzaru, Anca Viorica Ivanov, Cosmin-Teodor Mihai, Lucian-Mihai Antoci, Cristian-Gabriel Ciobanu, Cristina Rusu, Roxana Popescu

Genes (Basel) 2023 Feb; 14(2): 465. Published online 2023 Feb 11. doi: 10.3390/genes14020465

PMCID:: PMC9957522

Abstract Article PDF–2.1M

Select item 993901417.

Patterns of delay in early gross motor and expressive language milestone attainment in probands with genetic conditions versus idiopathic ASD from SFARI registries

Jordan Wickstrom, Cristan Farmer, LeeAnne Green Snyder, Andrew R. Mitz, Stephan J. Sanders, Somer Bishop, Audrey Thurm

J Child Psychol Psychiatry. Author manuscript; available in PMC 2023 Feb 19.

Published in final edited form as: J Child Psychol Psychiatry. 2021 Nov; 62(11): 1297–1307. Published online 2021 Aug 12. doi: 10.1111/jcpp.13492

PMCID:: PMC9939014

Abstract Article PDF–415K

Select item 986300518.

Chromosomal Microarray Study in Prader-Willi Syndrome

Merlin G. Butler, Waheeda A. Hossain, Neil Cowen, Anish Bhatnagar

Int J Mol Sci. 2023 Jan; 24(2): 1220. Published online 2023 Jan 7. doi: 10.3390/ijms24021220

PMCID:: PMC9863005

Abstract Article PDF–3.8M

Select item 983423319.

Microdeletions and microduplications linked to severe congenital disorders in infertile men

Triin Kikas, Anna Maria Punab, Laura Kasak, Olev Poolamets, Vladimir Vihljajev, Kristjan Pomm, Mario Reiman, Stanislav Tjagur, Paul Korrovits, Margus Punab, Maris Laan

Sci Rep. 2023; 13: 574. Published online 2023 Jan 11. doi: 10.1038/s41598-023-27750-w

PMCID:: PMC9834233

Abstract Article PDF–1.5M

Select item 977744820.

A Targeted Epigenetic Clock for the Prediction of Biological Age

Noémie Gensous, Claudia Sala, Chiara Pirazzini, Francesco Ravaioli, Maddalena Milazzo, Katarzyna Malgorzata Kwiatkowska, Elena Marasco, Sara De Fanti, Cristina Giuliani, Camilla Pellegrini, Aurelia Santoro, Miriam Capri, Stefano Salvioli, Daniela Monti, Gastone Castellani, Claudio Franceschi, Maria Giulia Bacalini, Paolo Garagnani

Cells. 2022 Dec; 11(24): 4044. Published online 2022 Dec 14. doi: 10.3390/cells11244044

PMCID:: PMC9777448

Abstract Article PDF–1.1M

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