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Select item 105031491.

Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach

Ainhoa Pascual-Alonso, Clara Xiol, Dmitrii Smirnov, Robert Kopajtich, Holger Prokisch, Judith Armstrong

Hum Genomics. 2023; 17: 85. Published online 2023 Sep 15. doi: 10.1186/s40246-023-00532-1

PMCID:: PMC10503149

Abstract Article PDF–3.6M

Select item 104499712.

Prospective phenotyping of CHAMP1 disorder indicates that coding mutations may not act through haploinsufficiency

Tess Levy, Thariana Pichardo, Hailey Silver, Bonnie Lerman, Jessica Zweifach, Danielle Halpern, Paige M. Siper, Alexander Kolevzon, Joseph D. Buxbaum

Hum Genet. 2023; 142(9): 1385–1394. Published online 2023 Jul 16. doi: 10.1007/s00439-023-02578-6

PMCID:: PMC10449971

Abstract Article PDF–1.4M

Select item 104539043.

Intellectual and Behavioral Phenotypes of Smith–Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic RAI1 Variant

Cathelijne C. Linders, Agnies M. van Eeghen, Janneke R. Zinkstok, Marie-José van den Boogaard, Erik Boot

Genes (Basel) 2023 Aug; 14(8): 1514. Published online 2023 Jul 25. doi: 10.3390/genes14081514

PMCID:: PMC10453904

Abstract Article PDF–666K

Select item 104540414.

Sarah Abi Raad, Vanda Yazbeck Karam, Eliane Chouery, Cybel Mehawej, Andre Megarbane

Genes (Basel) 2023 Aug; 14(8): 1546. Published online 2023 Jul 28. doi: 10.3390/genes14081546

PMCID:: PMC10454041

Abstract Article PDF–595K

Select item 104540715.

Aicardi Syndrome Is a Genetically Heterogeneous Disorder

Thuong T. Ha, Rosemary Burgess, Morgan Newman, Ching Moey, Simone A. Mandelstam, Alison E. Gardner, Atma M. Ivancevic, Duyen Pham, Raman Kumar, Nicholas Smith, Chirag Patel, Stephen Malone, Monique M. Ryan, Sophie Calvert, Clare L. van Eyk, Michael Lardelli, Samuel F. Berkovic, Richard J. Leventer, Linda J. Richards, Ingrid E. Scheffer, Jozef Gecz, Mark A. Corbett

Genes (Basel) 2023 Aug; 14(8): 1565. Published online 2023 Jul 31. doi: 10.3390/genes14081565

PMCID:: PMC10454071

Abstract Article PDF–3.1M

Select item 104543236.

Three-Year Follow-Up after Intrauterine mTOR Inhibitor Administration for Fetus with TSC-Associated Rhabdomyoma

Anita Maász, Tímea Bodó, Ágnes Till, Gábor Molnár, György Masszi, Gusztáv Labossa, Zsuzsanna Herbert, Judit Bene, Kinga Hadzsiev

Int J Mol Sci. 2023 Aug; 24(16): 12886. Published online 2023 Aug 17. doi: 10.3390/ijms241612886

PMCID:: PMC10454323

Abstract Article PDF–4.4M

Select item 104547337.

The ATP6V1B2 DDOD/DOORS-Associated p.Arg506* Variant Causes Hyperactivity and Seizures in Mice

Justine Rousseau, Samuel Boris Tene Tadoum, Marisol Lavertu Jolin, Thi Tuyet Mai Nguyen, Norbert Fonya Ajeawung, Ann M. Flenniken, Lauryl M. J. Nutter, Igor Vukobradovic, Elsa Rossignol, Philippe M. Campeau

Genes (Basel) 2023 Aug; 14(8): 1538. Published online 2023 Jul 27. doi: 10.3390/genes14081538

PMCID:: PMC10454733

Abstract Article PDF–2.3M

Select item 104640458.

Dorsal visual stream and LIMK1: hemideletion, haplotype, and enduring effects in children with Williams syndrome

J. Shane Kippenhan, Michael D. Gregory, Tiffany Nash, Philip Kohn, Carolyn B. Mervis, Daniel P. Eisenberg, Madeline H. Garvey, Katherine Roe, Colleen A. Morris, Bhaskar Kolachana, Ariel M. Pani, Leah Sorcher, Karen F. Berman

J Neurodev Disord. 2023; 15: 29. Published online 2023 Aug 26. doi: 10.1186/s11689-023-09493-x

PMCID:: PMC10464045

Abstract Article PDF–2.5M

Select item 104641199.

The recurrent WASF1 nonsense variant identified in two unaffected Chinese families with neurodevelopmental disorder: case report and review of the literatures

Xiang Tang, Guoqing Liu, Li Lin, Nong Xiao, Yuxia Chen

BMC Med Genomics. 2023; 16: 203. Published online 2023 Aug 28. doi: 10.1186/s12920-023-01630-8

PMCID:: PMC10464119

Abstract Article PDF–1.1M

Select item 1046967010.

Fragile X Syndrome in children

David O. Acero-Garcés, Wilmar Saldarriaga, Ana M. Cabal-Herrera, Christian A. Rojas, Randi J. Hagerman

Colomb Med (Cali) 2023 Apr-Jun; 54(2): e4005089. Published online 2023 May 20. doi: 10.25100/cm.v54i2.5089

PMCID:: PMC10469670

Abstract Article PDF–2.2M

Select item 1047220411.

Enrichment of self-domestication and neural crest function loci in the heritability of neurodevelopmental disorders

Dora Koller, Antonio Benítez-Burraco, Renato Polimanti

Hum Genet. Author manuscript; available in PMC 2024 Feb 1.

Published in final edited form as: Hum Genet. 2023 Aug; 142(8): 1271–1279. Published online 2023 Mar 17. doi: 10.1007/s00439-023-02541-5

PMCID:: PMC10472204

Abstract Article PDF–555K

Select item 1047404512.

Camille Engel, Stéphanie Valence, Geoffroy Delplancq, Reza Maroofian, Andrea Accogli, Emanuele Agolini, Fowzan S. Alkuraya, Valentina Baglioni, Irene Bagnasco, Mathilde Becmeur-Lefebvre, Enrico Bertini, Ingo Borggraefe, Elise Brischoux-Boucher, Ange-Line Bruel, Alfredo Brusco, Dalal K. Bubshait, Christelle Cabrol, Maria Roberta Cilio, Marie-Coralie Cornet, Christine Coubes, Olivier Danhaive, Valérie Delague, Anne-Sophie Denommé-Pichon, Marilena Carmela Di Giacomo, Martine Doco-Fenzy, Hartmut Engels, Kirsten Cremer, Marion Gérard, Joseph G. Gleeson, Delphine Heron, Joanna Goffeney, Anne Guimier, Frederike L. Harms, Henry Houlden, Michele Iacomino, Rauan Kaiyrzhanov, Benjamin Kamien, Ehsan Ghayoor Karimiani, Dror Kraus, Paul Kuentz, Kerstin Kutsche, Damien Lederer, Lauren Massingham, Cyril Mignot, Déborah Morris-Rosendahl, Lakshmi Nagarajan, Sylvie Odent, Clothilde Ormières, Jennifer Neil Partlow, Laurent Pasquier, Lynette Penney, Christophe Philippe, Gianluca Piccolo, Cathryn Poulton, Audrey Putoux, Marlène Rio, Christelle Rougeot, Vincenzo Salpietro, Ingrid Scheffer, Amy Schneider, Siddharth Srivastava, Rachel Straussberg, Pasquale Striano, Enza Maria Valente, Perrine Venot, Laurent Villard, Antonio Vitobello, Johanna Wagner, Matias Wagner, Maha S. Zaki, Federizo Zara, Gaetan Lesca, Vahid Reza Yassaee, Mohammad Miryounesi, Farzad Hashemi-Gorji, Mehran Beiraghi, Farah Ashrafzadeh, Hamid Galehdari, Christopher Walsh, Antonio Novelli, Moritz Tacke, Dinara Sadykova, Yerdan Maidyrov, Kairgali Koneev, Chingiz Shashkin, Valeria Capra, Mina Zamani, Lionel Van Maldergem, Lydie Burglen, Juliette Piard

Eur J Hum Genet. 2023 Sep; 31(9): 1023–1031. Published online 2023 Jun 21. doi: 10.1038/s41431-023-01410-z

PMCID:: PMC10474045

Abstract Article PDF–1.7M

Select item 1048388613.

A functional link between lariat debranching enzyme and the intron binding complex is defective in non-photosensitive trichothiodystrophy

Brittany A. Townley, Luke Buerer, Ning Tsao, Albino Bacolla, Fadhel Mansoori, Timur Rusanov, Nathanial Clark, Negar Goodarzi, Nicolas Schmidt, Sridhar Nonavinkere Srivatsan, Hua Sun, Reilly A. Sample, Joshua R. Brickner, Drew McDonald, Miaw-Sheue Tsai, Matthew J. Walter, David F. Wozniak, Alex S. Holehouse, Vladimir Pena, John A. Tainer, William G. Fairbrother, Nima Mosammaparast

Mol Cell. Author manuscript; available in PMC 2024 Jul 6.

Published in final edited form as: Mol Cell. 2023 Jul 6; 83(13): 2258–2275.e11. Published online 2023 Jun 26. doi: 10.1016/j.molcel.2023.06.011

PMCID:: PMC10483886

Abstract Article PDF–3.0M

Select item 1048563714.

Quantitative proteomics and phosphoproteomics of PP2A-PPP2R5D variants reveal deregulation of RPS6 phosphorylation via converging signaling cascades

Kali A. Smolen, Cinta M. Papke, Mark R. Swingle, Alla Musiyenko, Chenchen Li, E. Alan Salter, Ashley D. Camp, Richard E. Honkanen, Arminja N. Kettenbach

J Biol Chem. 2023 Sep; 299(9): 105154. Published online 2023 Aug 10. doi: 10.1016/j.jbc.2023.105154

PMCID:: PMC10485637

Abstract Article PDF–2.9M

Select item 1048725615.

Brain Metabolomics in Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)

Maria Jimena Salcedo-Arellano, Michael D. Johnson, Yingratana A. McLennan, Ye Hyun Hwang, Pablo Juarez, Erin Lucille McBride, Adriana P. Pantoja, Blythe Durbin-Johnson, Flora Tassone, Randi J. Hagerman, Verónica Martínez-Cerdeño

Cells. 2023 Sep; 12(17): 2132. Published online 2023 Aug 23. doi: 10.3390/cells12172132

PMCID:: PMC10487256

Abstract Article PDF–2.0M

Select item 1049604316.

Case reports of two siblings with autism spectrum disorder and 15q13.3 deletions

Sawako Furukawa, Itaru Kushima, Branko Aleksic, Norio Ozaki

Neuropsychopharmacol Rep. 2023 Sep; 43(3): 462–466. Published online 2023 Jun 1. doi: 10.1002/npr2.12340

PMCID:: PMC10496043

Abstract Article PDF–1.0M

Select item 1044996017.

A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation

Alexandra Frohne, Martin Koenighofer, Hakan Cetin, Michael Nieratschker, David T. Liu, Franco Laccone, Juergen Neesen, Stefan F. Nemec, Ursula Schwarz-Nemec, Christian Schoefer, Karen B. Avraham, Klemens Frei, Katharina Grabmeier-Pfistershammer, Bernhard Kratzer, Klaus Schmetterer, Winfried F. Pickl, Thomas Parzefall

Hum Genet. 2023; 142(8): 1077–1089. Published online 2022 Nov 29. doi: 10.1007/s00439-022-02506-0

PMCID:: PMC10449960

Abstract Article PDF–4.6M

Select item 1052424018.

Do PACS1 variants impeding adaptor protein binding predispose to syndromic intellectual disability?

Ashley Moller-Hansen, Duha Hejla, Hyun Kyung Lee, Jenea Barbara Lyles, Yunhan Yang, Kun Chen, Wenhui Laura Li, Gary Thomas, Cornelius F. Boerkoel

Am J Med Genet A. Author manuscript; available in PMC 2024 Aug 1.

Published in final edited form as: Am J Med Genet A. 2023 Aug; 191(8): 2181–2187. Published online 2023 May 4. doi: 10.1002/ajmg.a.63232

PMCID:: PMC10524240

Abstract Article PDF–881K

Select item 1052467819.

Updated Consensus Guidelines on the Management of Phelan-McDermid Syndrome

Siddharth Srivastava, Mustafa Sahin, Joseph D. Buxbaum, Elizabeth Berry-Kravis, Latha Valluripalli Soorya, Audrey Thurm, Jonathan A. Bernstein, Afua Asante-Otoo, William E. Bennett, Jr., Catalina Betancur, Tegwyn H. Brickhouse, Maria Rita Passos Bueno, Maya Chopra, Celanie K. Christensen, Jennifer L. Cully, Kira Dies, Kate Friedman, Brittany Gummere, J. Lloyd Holder, Jr., Andres Jimenez-Gomez, Carolyn A. Kerins, Omar Khan, Teresa Kohlenberg, Ronald V. Lacro, Lori A. Levy, Tess Levy, Diane Linnehan, Eva Loth, Baharak Moshiree, Ann Neumeyer, Scott M. Paul, Katy Phelan, Antonio Persico, Robert Rapaport, Curtis Rogers, Jeffrey Saland, Swathi Sethuram, Janine Shapiro, Phillip I. Tarr, Kerry M. White, Jordan Wickstrom, Kent M. Williams, Dana Winrow, Brian Wishart, Alexander Kolevzon

Am J Med Genet A. Author manuscript; available in PMC 2024 Aug 1.

Published in final edited form as: Am J Med Genet A. 2023 Aug; 191(8): 2015–2044. Published online 2023 Jul 1. doi: 10.1002/ajmg.a.63312

PMCID:: PMC10524678

Abstract Article PDF–710K

Select item 1052492720.

Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing

Stephanie A Felker, James MJ Lawlor, Susan M Hiatt, Michelle L Thompson, Donald R Latner, Candice R Finnila, Kevin M Bowling, Zachary T Bonnstetter, Katherine E Bonini, Nicole R Kelly, Whitley V Kelley, Anna CE Hurst, Salman Rashid, Melissa A Kelly, Ghunwa Nakouzi, Laura G Hendon, E Martina Bebin, Eimear E Kenny, Gregory M Cooper

Genet Med. Author manuscript; available in PMC 2024 Aug 1.

Published in final edited form as: Genet Med. 2023 Aug; 25(8): 100884. Published online 2023 May 6. doi: 10.1016/j.gim.2023.100884

PMCID:: PMC10524927

Abstract Article PDF–499K

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