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Select item 96689631.

Post-remission measurable residual disease directs treatment choice and improves outcomes for patients with intermediate-risk acute myeloid leukemia in CR1

Lijie Han, Yilu Li, Jiaying Wu, Jie Peng, Xiaolin Han, Hongmian Zhao, Chen He, Yuanyuan Li, Weimin Wang, Mengmeng Zhang, Yafei Li, Hui Sun, Haixia Cao, Li’na Sang, Zhongxing Jiang, Jifeng Yu

Int J Hematol. 2022; 116(6): 892–901. Published online 2022 Aug 28. doi: 10.1007/s12185-022-03441-6

PMCID:: PMC9668963

Abstract Article PDF–931K

Select item 106906842.

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

Abstract Article PDF–4.6M

Select item 106680413.

Neurodevelopmental disorder caused by an inherited novel KMT5B variant: case report

Ljubica Odak, Katarina Vulin, Ana-Maria Meašić, Lara Šamadan, Ana Tripalo Batoš

Croat Med J. 2023 Oct; 64(5): 334–338. doi: 10.3325/cmj.2023.64.334

PMCID:: PMC10668041

Abstract Article PDF–1.2M

Select item 105521914.

Novel SETBP1 mutation in a chinese family with intellectual disability

Le Wang, Xu-Dong Wang, Bo Yang, Xue-Meng Wang, Yu-Qian Peng, Hang-Jing Tan, Hong-Mei Xiao

BMC Med Genomics. 2023; 16: 233. Published online 2023 Oct 5. doi: 10.1186/s12920-023-01649-x

PMCID:: PMC10552191

Abstract Article PDF–1.0M

Select item 105063675.

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

Frédéric Ebstein, Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie-Pier Scott-Boyer, Geeske M. van Woerden, Thomas Besnard, Jonas Johannes Papendorf, Maja Studencka-Turski, Tianyun Wang, Tzung-Chien Hsieh, Richard Golnik, Dustin Baldridge, Cara Forster, Charlotte de Konink, Selina M.W. Teurlings, Virginie Vignard, Richard H. van Jaarsveld, Lesley Ades, Benjamin Cogné, Cyril Mignot, Wallid Deb, Marjolijn C.J. Jongmans, F. Sessions Cole, Marie-José H. van den Boogaard, Jennifer A. Wambach, Daniel J. Wegner, Sandra Yang, Vickie Hannig, Jennifer Ann Brault, Neda Zadeh, Bruce Bennetts, Boris Keren, Anne-Claire Gélineau, Zöe Powis, Meghan Towne, Kristine Bachman, Andrea Seeley, Anita E. Beck, Jennifer Morrison, Rachel Westman, Kelly Averill, Theresa Brunet, Judith Haasters, Melissa T. Carter, Matthew Osmond, Patricia G. Wheeler, Francesca Forzano, Shehla Mohammed, Yannis Trakadis, Andrea Accogli, Rachel Harrison, Yiran Guo, Hakon Hakonarson, Sophie Rondeau, Geneviève Baujat, Giulia Barcia, René Günther Feichtinger, Johannes Adalbert Mayr, Martin Preisel, Frédéric Laumonnier, Tilmann Kallinich, Alexej Knaus, Bertrand Isidor, Peter Krawitz, Uwe Völker, Elke Hammer, Arnaud Droit, Evan E. Eichler, Ype Elgersma, Peter W. Hildebrand, François Bolduc, Elke Krüger, Stéphane Bézieau

Sci Transl Med. Author manuscript; available in PMC 2023 Nov 30.

Published in final edited form as: Sci Transl Med. 2023 May 31; 15(698): eabo3189. Published online 2023 May 31. doi: 10.1126/scitranslmed.abo3189

PMCID:: PMC10506367

Abstract Article PDF–2.2M

Select item 105014846.

Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape

Dezső David, João P. Freixo, Joana Fino, Inês Carvalho, Mariana Marques, Manuela Cardoso, Raul E. Piña-Aguilar, Cynthia C. Morton

Hum Genet. Author manuscript; available in PMC 2023 Sep 14.

Published in final edited form as: Hum Genet. 2020 Apr; 139(4): 531–543. Published online 2020 Feb 6. doi: 10.1007/s00439-020-02121-x

PMCID:: PMC10501484

Abstract Article PDF–1.2M

Select item 104543567.

Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes

Irene Ambrosetti, Laura Bernardini, Marzia Pollazzon, Maria Grazia Giuffrida, Valentina Guida, Francesca Peluso, Maria Chiara Baroni, Valeria Polizzi, Manuela Napoli, Simonetta Rosato, Gabriele Trimarchi, Chiara Gelmini, Stefano Giuseppe Caraffi, Anita Wischmeijer, Daniele Frattini, Antonio Novelli, Livia Garavelli

Genes (Basel) 2023 Aug; 14(8): 1526. Published online 2023 Jul 26. doi: 10.3390/genes14081526

PMCID:: PMC10454356

Abstract Article PDF–2.2M

Select item 103934178.

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Stephanie Efthymiou, Giovanni Zifarelli, Tipu Sultan, Mehran Beiraghi Toosi, Sahar Sedighzadeh, Victoria Mok Siu, Juan Darío Ortigoza-Escobar, Aisha M AlShamsi, Shahnaz Ibrahim, Nouriya Abbas Al-Sannaa, Walla Al-Hertani, Whalen Sandra, Mark Tarnopolsky, Shahryar Alavi, Chumei Li, Debra-Lynn Day-Salvatore, Maria Jesús Martínez-González, Kristin M Levandoski, Emma Bedoukian, Suneeta Madan-Khetarpal, Michaela J Idleburg, Minal Juliet Menezes, Aishwarya Siddharth, Konrad Platzer, Henry Oppermann, Martin Smitka, Felicity Collins, Monkol Lek, Mohmmad Shahrooei, Maryam Ghavideldarestani, Isabella Herman, John Rendu, Julien Faure, Janice Baker, Vikas Bhambhani, Laurel Calderwood, Javad Akhondian, Shima Imannezhad, Hanieh Sadat Mirzadeh, Narges Hashemi, Mohammad Doosti, Mojtaba Safi, Najmeh Ahangari, Paria Najarzadeh Torbati, Soheila Abedini, Vincenzo Salpietro, Elif Yilmaz Gulec, Safieh Eshaghian, Mohammadreza Ghazavi, Michael T Pascher, Marina Vogel, Angela Abicht, Sébastien Moutton, Ange-Line Bruel, Claudine Rieubland, Sabina Gallati, Tim M Strom, Hanns Lochmüller, Mohammad Hasan Mohammadi, Javeria Raza Alvi, Elaine H Zackai, Beth A Keena, Cara M Skraban, Seth I Berger, Erin H Andrew, Elham Rahimian, Michelle M Morrow, Ingrid M Wentzensen, Francisca Millan, Lindsay B Henderson, Hormos Salimi Dafsari, Heinz Jungbluth, Natalia Gomez-Ospina, Anne McRae, Merlene Peter, Danai Veltra, Nikolaos M Marinakis, Christalena Sofocleous, Farah Ashrafzadeh, Davut Pehlivan, Johannes R Lemke, Judith Melki, Audrey Benezit, Peter Bauer, Denisa Weis, James R Lupski, Jan Senderek, John Christodoulou, Wendy K Chung, Rose Goodchild, Amaka C Offiah, Andres Moreno-De-Luca, Mohnish Suri, Darius Ebrahimi-Fakhari, Henry Houlden, Reza Maroofian

Brain. 2023 Aug; 146(8): 3273–3288. Published online 2023 Feb 9. doi: 10.1093/brain/awad039

PMCID:: PMC10393417

Abstract Article PDF–34M

Select item 103649289.

Utility of whole‐exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population

Rai‐Hseng Hsu, Chen‐Hao Lee, Yin‐Hsiu Chien, Shuan‐Pei Lin, Miao‐Zi Hung, Nai‐Chi Chen, Yi‐Lin Lin, Wuh‐Liang Hwu, Ni‐Chung Lee

Mol Genet Genomic Med. 2023 Jun; 11(6): e2160. Published online 2023 Feb 27. doi: 10.1002/mgg3.2160

PMCID:: PMC10364928

Abstract Article PDF–462K

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 1032957011.

Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder

Gianluca D’Onofrio, Andrea Accogli, Mariasavina Severino, Haluk Caliskan, Tomislav Kokotović, Antonela Blazekovic, Kristina Gotovac Jercic, Silvana Markovic, Tamara Zigman, Krnjak Goran, Nina Barišić, Vlasta Duranovic, Ana Ban, Fran Borovecki, Danijela Petković Ramadža, Ivo Barić, Walid Fazeli, Peter Herkenrath, Carla Marini, Roberta Vittorini, Vykuntaraju Gowda, Arjan Bouman, Clarissa Rocca, Issam Azmi Alkhawaja, Bibi Nazia Murtaza, Malik Mujaddad Ur Rehman, Chadi Al Alam, Gisele Nader, Maria Margherita Mancardi, Thea Giacomini, Siddharth Srivastava, Javeria Raza Alvi, Hoda Tomoum, Sara Matricardi, Michele Iacomino, Antonella Riva, Marcello Scala, Francesca Madia, Angela Pistorio, Vincenzo Salpietro, Carlo Minetti, Jean-Baptiste Rivière, Myriam Srour, Stephanie Efthymiou, Reza Maroofian, Henry Houlden, Sonja Catherine Vernes, Federico Zara, Pasquale Striano, Vanja Nagy

Hum Genet. 2023; 142(7): 909–925. Published online 2023 May 14. doi: 10.1007/s00439-023-02552-2

PMCID:: PMC10329570

Abstract Article PDF–1.6M

Select item 1024719312.

SYNGAP1基因变异相关常染色体显性智力障碍5型8例并文献复习

王晓乐, 田亚男, 陈晨, 彭镜

Zhongguo Dang Dai Er Ke Za Zhi. 2023 May 15; 25(5): 489–496. Chinese. doi: 10.7499/j.issn.1008-8830.2301054

PMCID:: PMC10247193

Abstract Article PDF–648K

Select item 997695713.

Late-onset sensory-motor axonal neuropathy, a novel SLC12A6-related phenotype

Sissel Løseth, Helle Høyer, Kim-Mai Le, Eric Delpire, Einar Kinge, Asgeir Lande, Hilde Tveitan Hilmarsen, Toril Fagerheim, Øivind Nilssen, Geir Julius Braathen

Brain. 2023 Mar; 146(3): 912–922. Published online 2022 Dec 21. doi: 10.1093/brain/awac488

PMCID:: PMC9976957

Abstract Article PDF–505K

Select item 992860614.

Expansion of the genotypic and phenotypic spectrum of CTCF-related disorder guides clinical management: 43 new subjects and a comprehensive literature review

Hannah Gabriela Valverde de Morales, Hsiao-Lin V. Wang, Kathryn Garber, Xiaodong Cheng, Victor G. Corces, Hong Li

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

Published in final edited form as: Am J Med Genet A. 2023 Mar; 191(3): 718–729. Published online 2022 Dec 1. doi: 10.1002/ajmg.a.63065

PMCID:: PMC9928606

Abstract Article PDF–1.4M

Select item 973093815.

The p190 RhoGAPs, ARHGAP35 and ARHGAP5, are Implicated in GnRH Neuronal Development: Evidence from Patients with Idiopathic Hypogonadotropic Hypogonadism, Zebrafish and in vitro GAP Activity Assay

Margaret F. Lippincott, Wanxue Xu, Abigail A. Smith, Xinyu Miao, Agathe Lafont, Omar Shennib, Gordon J. Farley, Riwa Sabbagh, Angela Delaney, Maria Stamou, Lacey Plummer, Kathryn Salnikov, Neoklis A. Georgopoulos, Veronica Mericq, Richard Quinton, Frederic Tran Mau-Them, Sophie Nambot, Asma Hamad, Helen Brittain, Rebecca S. Tooze, Eduardo Calpena, Andrew O.M. Wilkie, Marjolaine Willems, William F. Crowley, Ravikumar Balasubramanian, Nathalie Lamarche-Vane, Erica E. Davis, Stephanie B. Seminara

Genet Med. Author manuscript; available in PMC 2023 Dec 1.

Published in final edited form as: Genet Med. 2022 Dec; 24(12): 2501–2515. Published online 2022 Sep 30. doi: 10.1016/j.gim.2022.08.025

PMCID:: PMC9730938

Abstract Article PDF–1.2M

Select item 969352116.

Whole Exome Sequencing Identifies a Heterozygous Variant in the Cav1.3 Gene CACNA1D Associated with Familial Sinus Node Dysfunction and Focal Idiopathic Epilepsy

Susanne Rinné, Birgit Stallmeyer, Alexandra Pinggera, Michael F. Netter, Lina A. Matschke, Sven Dittmann, Uwe Kirchhefer, Ulrich Neudorf, Joachim Opp, Jörg Striessnig, Niels Decher, Eric Schulze-Bahr

Int J Mol Sci. 2022 Nov; 23(22): 14215. Published online 2022 Nov 17. doi: 10.3390/ijms232214215