PMC Articles for MedGen (Select 1823970) - PMC

Select item 66876611.

A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination

Sachiko Miyamoto, Mitsuko Nakashima, Tsukasa Ohashi, Takuya Hiraide, Kenji Kurosawa, Toshiyuki Yamamoto, Junichi Takanashi, Hitoshi Osaka, Ken Inoue, Takehiro Miyazaki, Yoshinao Wada, Nobuhiko Okamoto, Hirotomo Saitsu

Mol Genet Genomic Med. 2019 Aug; 7(8): e814. Published online 2019 Jun 23. doi: 10.1002/mgg3.814

PMCID:: PMC6687661

Abstract Article PDF–1.1M

Select item 32343802.

Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia

Mohammed A. Aldahmesh, Jawahir Y. Mohamed, Hisham S. Alkuraya, Ishwar C. Verma, Ratna D. Puri, Ayodele A. Alaiya, William B. Rizzo, Fowzan S. Alkuraya

Am J Hum Genet. 2011 Dec 9; 89(6): 745–750. doi: 10.1016/j.ajhg.2011.10.011

PMCID:: PMC3234380

Abstract Article PDF–696K

Select item 45649883.

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

Akemi J. Tanaka, Megan T. Cho, Francisca Millan, Jane Juusola, Kyle Retterer, Charuta Joshi, Dmitriy Niyazov, Adolfo Garnica, Edward Gratz, Matthew Deardorff, Alisha Wilkins, Xilma Ortiz-Gonzalez, Katherine Mathews, Karin Panzer, Eva Brilstra, Koen L.I. van Gassen, Catharina M.L. Volker-Touw, Ellen van Binsbergen, Nara Sobreira, Ada Hamosh, Dianalee McKnight, Kristin G. Monaghan, Wendy K. Chung

Am J Hum Genet. 2015 Sep 3; 97(3): 457–464. Published online 2015 Aug 20. doi: 10.1016/j.ajhg.2015.07.014

PMCID:: PMC4564988

Abstract Article PDF–2.2M

Select item 48865524.

Genotype–Phenotype Correlation of Congenital Anomalies in Multiple Congenital Anomalies Hypotonia Seizures Syndrome (MCAHS1)/ PIGN-Related Epilepsy

Leah Fleming, Monica Lemmon, Natalie Beck, Maria Johnson, Weiyi Mu, David Murdock, Joann Bodurtha, Julie Hoover-Fong, Ronald Cohn, Thangamadhan Bosemani, Kristin Barañano, Ada Hamosh

Am J Med Genet A. Author manuscript; available in PMC 2016 May 31.

Published in final edited form as: Am J Med Genet A. 2016 Jan; 170A(1): 77–86. Published online 2015 Sep 23. doi: 10.1002/ajmg.a.37369

PMCID:: PMC4886552

Abstract Article PDF–626K

Select item 55018735.

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features

Cara M. Skraban, Constance F. Wells, Preetha Markose, Megan T. Cho, Addie I. Nesbitt, P.Y. Billie Au, Amber Begtrup, John A. Bernat, Lynne M. Bird, Kajia Cao, Arjan P.M. de Brouwer, Elizabeth H. Denenberg, Ganka Douglas, Kristin M. Gibson, Katheryn Grand, Alice Goldenberg, A. Micheil Innes, Jane Juusola, Marlies Kempers, Esther Kinning, David M. Markie, Martina M. Owens, Katelyn Payne, Richard Person, Rolph Pfundt, Amber Stocco, Claire L.S. Turner, Nienke E. Verbeek, Laurence E. Walsh, Taylor C. Warner, Patricia G. Wheeler, Dagmar Wieczorek, Alisha B. Wilkens, Evelien Zonneveld-Huijssoon, Deciphering Developmental Disorders Study, Tjitske Kleefstra, Stephen P. Robertson, Avni Santani, Koen L.I. van Gassen, Matthew A. Deardorff

Am J Hum Genet. 2017 Jul 6; 101(1): 139–148. Published online 2017 Jul 6. doi: 10.1016/j.ajhg.2017.06.002

PMCID:: PMC5501873

Abstract Article PDF–2.0M

Select item 55328826.

BRAT1 Mutations Present with a Spectrum of Clinical Severity

Siddharth Srivastava, Heather E. Olson, Julie S. Cohen, Cynthia S. Gubbels, Sharyn Lincoln, Brigette Tippin Davis, Layla Shahmirzadi, Siddharth Gupta, Jonathan Picker, Timothy W. Yu, David T. Miller, Janet S. Soul, Andrea Poretti, SakkuBai Naidu

Am J Med Genet A. Author manuscript; available in PMC 2017 Sep 1.

Published in final edited form as: Am J Med Genet A. 2016 Sep; 170(9): 2265–2273. Published online 2016 Jun 9. doi: 10.1002/ajmg.a.37783

PMCID:: PMC5532882

Abstract Article PDF–1.6M

Select item 56690167.

Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia

Conceição Bettencourt, Vincenzo Salpietro, Stephanie Efthymiou, Viorica Chelban, Deborah Hughes, Alan M. Pittman, Monica Federoff, Thomas Bourinaris, Martha Spilioti, Georgia Deretzi, Triantafyllia Kalantzakou, Henry Houlden, Andrew B. Singleton, Georgia Xiromerisiou

Orphanet J Rare Dis. 2017; 12: 172. Published online 2017 Nov 2. doi: 10.1186/s13023-017-0721-2

PMCID:: PMC5669016

Abstract Article PDF–4.7M

Select item 58325998.

Characterization of a Novel Variant in Siblings with Asparagine Synthetase Deficiency

Stephanie J. Sacharow, Elizabeth E. Dudenhausen, Carrie L. Lomelino, Lance Rodan, Christelle Moufawad El Achkar, Heather E. Olson, Casie A Genetti, Pankaj B. Agrawal, Robert McKenna, Michael S. Kilberg

Mol Genet Metab. Author manuscript; available in PMC 2019 Mar 1.

Published in final edited form as: Mol Genet Metab. 2018 Mar; 123(3): 317–325. Published online 2017 Dec 20. doi: 10.1016/j.ymgme.2017.12.433

PMCID:: PMC5832599

Abstract Article PDF–944K

Select item 61142709.

Neurodegeneration in an adolescent with Sjogren-Larsson syndrome: a decade-long follow-up case report

Kye Hee Cho, Sung Han Shim, Youngsoo Jung, Se Ra Sung, MinYoung Kim

BMC Med Genet. 2018; 19: 152. Published online 2018 Aug 29. doi: 10.1186/s12881-018-0663-0

PMCID:: PMC6114270

Abstract Article PDF–1.9M

Select item 1114910210.

PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature

Christina L. Magyar, David R. Murdock, Lindsay C. Burrage, Hongzheng Dai, Seema R. Lalani, Richard A. Lewis, Yuezhen Lin, Marcela F. Astudillo, Jill A. Rosenfeld, Alyssa A. Tran, James B. Gibson, Undiagnosed Diseases Network, Carlos A. Bacino, Brendan H. Lee, Hsiao-Tuan Chao

Am J Med Genet A. Author manuscript; available in PMC 2024 Jun 4.

Published in final edited form as: Am J Med Genet A. 2022 Jun; 188(6): 1868–1874. Published online 2022 Feb 23. doi: 10.1002/ajmg.a.62704

PMCID:: PMC11149102

Abstract Article PDF–855K

Select item 690630811.

Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities

Renee Bend, Lior Cohen, Melissa T. Carter, Michael J. Lyons, Dmitriy Niyazov, Mohamad A. Mikati, Samantha K. Rojas, Richard E. Person, Yue Si, Ingrid M. Wentzensen, Regeneron Genetics Center, Erin Torti, Jennifer A. Lee, Kym M. Boycott, Lina Basel-Salmon, Carlos R. Ferreira, Claudia Gonzaga-Jauregui

Eur J Hum Genet. 2020 Jan; 28(1): 76–87. Published online 2019 Aug 8. doi: 10.1038/s41431-019-0487-1

PMCID:: PMC6906308

Abstract Article PDF–2.1M

Select item 693575312.

Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability

Nicole J Van Bergen, Yiran Guo, Noraldin Al-Deri, Zhanna Lipatova, Daniela Stanga, Sarah Zhao, Rakhilya Murtazina, Valeriya Gyurkovska, Davut Pehlivan, Tadahiro Mitani, Alper Gezdirici, Jayne Antony, Felicity Collins, Mary J H Willis, Zeynep H Coban Akdemir, Pengfei Liu, Jaya Punetha, Jill V Hunter, Shalini N Jhangiani, Jawid M Fatih, Jill A Rosenfeld, Jennifer E Posey, Richard A Gibbs, Ender Karaca, Sean Massey, Thisara G Ranasinghe, Patrick Sleiman, Chris Troedson, James R Lupski, Michael Sacher, Nava Segev, Hakon Hakonarson, John Christodoulou

Brain. 2020 Jan; 143(1): 112–130. Published online 2019 Dec 3. doi: 10.1093/brain/awz374

Correction in:: Brain. 2020 Mar; 143(3): e24.

PMCID:: PMC6935753

Abstract Article PDF–1.9M

Select item 711662813.

A de novo truncating mutation in ASXL1 associated with segmental overgrowth

Stephanie Efthymiou, Vincenzo Salpietro, Erica Pironti, Maria Bonsignore, Valentina Ferrazzoli, Gabriella Di Rosa, Henry Houlden

J Genet. Author manuscript; available in PMC 2021 Jan 25.

Published in final edited form as: J Genet. 2019 Dec 1; 98: 108. Published online 2019 Nov 22. doi: 10.1007/s12041-019-1155-5

PMCID:: PMC7116628

Abstract Article PDF–619K

Select item 935931714.

El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: further delineation of the phenotype and genotype

Mohammed Almannai, Dana Marafi, Ghada M.H. Abdel-Salam, Maha S. Zaki, Ruizhi Duan, Daniel Calame, Isabella Herman, Felix SHA Levesque, Hasnaa M Elbendary, Ibrahim Hegazy, Wendy K. Chung, Haluk Kavus, Kolsoum Saeidi, Reza Maroofian, Aqeela AlHashim, Ali Al-Otaibi, Asma Al Madhi, Hager M. Aboalseood, Ali Alasmari, Henry Houlden, Joseph G Gleeson, Jill V Hunter, Jennifer E. Posey, James R. Lupski, Ayman W. El-Hattab

Clin Genet. Author manuscript; available in PMC 2023 May 1.

Published in final edited form as: Clin Genet. 2022 May; 101(5-6): 530–540. Published online 2022 Apr 12. doi: 10.1111/cge.14132

PMCID:: PMC9359317

Abstract Article PDF–1.2M

Select item 954421815.

HPDL mutations identified by exome sequencing are associated with infant neurodevelopmental disorders

Yanhong Wang, Xuan Zheng, Chao Feng, Xiaoge Fan, Lei Liu, Pengbo Guo, Zhi Lei, Shiyue Mei

Mol Genet Genomic Med. 2022 Oct; 10(10): e2025. Published online 2022 Aug 19. doi: 10.1002/mgg3.2025

PMCID:: PMC9544218

Abstract Article PDF–2.6M

Select item 974825316.

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

Abstract Article PDF–3.5M

Select item 1099453317.

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

Rauan Kaiyrzhanov, Aboulfazl Rad, Sheng-Jia Lin, Aida Bertoli-Avella, Wouter W Kallemeijn, Annie Godwin, Maha S Zaki, Kevin Huang, Tracy Lau, Cassidy Petree, Stephanie Efthymiou, Ehsan Ghayoor Karimiani, Maja Hempel, Elizabeth A Normand, Sabine Rudnik-Schöneborn, Ulrich A Schatz, Marc P Baggelaar, Muhammad Ilyas, Tipu Sultan, Javeria Raza Alvi, Manizha Ganieva, Ben Fowler, Ruxandra Aanicai, Gulsen Akay Tayfun, Abdulaziz Al Saman, Abdulrahman Alswaid, Nafise Amiri, Nilufar Asilova, Vorasuk Shotelersuk, Patra Yeetong, Matloob Azam, Meisam Babaei, Gholamreza Bahrami Monajemi, Pouria Mohammadi, Saeed Samie, Selina Husna Banu, Jorge Pinto Basto, Fanny Kortüm, Mislen Bauer, Peter Bauer, Christian Beetz, Masoud Garshasbi, Awatif Hameed Issa, Wafaa Eyaid, Hind Ahmed, Narges Hashemi, Kazem Hassanpour, Isabella Herman, Sherozjon Ibrohimov, Ban A Abdul-Majeed, Maria Imdad, Maksudjon Isrofilov, Qassem Kaiyal, Suliman Khan, Brian Kirmse, Janet Koster, Charles Marques Lourenço, Tadahiro Mitani, Oana Moldovan, David Murphy, Maryam Najafi, Davut Pehlivan, Maria Eugenia Rocha, Vincenzo Salpietro, Miriam Schmidts, Adel Shalata, Mohammad Mahroum, Jawabreh Kassem Talbeya, Robert W Taylor, Dayana Vazquez, Annalisa Vetro, Hans R Waterham, Mashaya Zaman, Tina A Schrader, Wendy K Chung, Renzo Guerrini, James R Lupski, Joseph Gleeson, Mohnish Suri, Yalda Jamshidi, Kailash P Bhatia, Barbara Vona, Michael Schrader, Mariasavina Severino, Matthew Guille, Edward W Tate, Gaurav K Varshney, Henry Houlden, Reza Maroofian

Brain. 2024 Apr; 147(4): 1436–1456. Published online 2023 Nov 10. doi: 10.1093/brain/awad380

PMCID:: PMC10994533

Abstract Article PDF–2.1M

Select item 1106810618.

Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome

Stephanie Efthymiou, Marcello Scala, Vini Nagaraj, Katarzyna Ochenkowska, Fenne L Komdeur, Robin A Liang, Mohamed S Abdel-Hamid, Tipu Sultan, Tuva Barøy, Marijke Van Ghelue, Barbara Vona, Reza Maroofian, Faisal Zafar, Fowzan S Alkuraya, Maha S Zaki, Mariasavina Severino, Kingsley C Duru, Robert C Tryon, Lin Vigdis Brauteset, Morad Ansari, Mark Hamilton, Mieke M van Haelst, Gijs van Haaften, Federico Zara, Henry Houlden, Éric Samarut, Colin G Nichols, Marie F Smeland, Conor McClenaghan

Brain. 2024 May; 147(5): 1822–1836. Published online 2024 Jan 13. doi: 10.1093/brain/awae010

PMCID:: PMC11068106

Abstract Article PDF–1.0M

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