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Items: 1 to 20 of 111

1.
De novo TRPM3 missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy
Jagadish Chandrabose Sundaramurthi, Anita M. Bagley, Hannah Blau, Leigh Carmody, Amy Crandall, Daniel Danis, Michael A. Gargano, Anxhela Gjyshi Gustafson, Ellen M. Raney, Mallory Shingle, Jon R. Davids, Peter N. Robinson
Cold Spring Harb Mol Case Stud. 2023 Dec; 9(4): a006293. doi: 10.1101/mcs.a006293
PMCID:
PMC10815282
ArticlePDF–4.7M
2.
Clinical features of PPP2 syndrome type R5D (Jordan's syndrome) to support standardization of care
Alexis D. Levine, Wendy K. Chung
Cold Spring Harb Mol Case Stud. 2023 Jun; 9(3): a006285. doi: 10.1101/mcs.a006285
PMCID:
PMC10393186
ArticlePDF–863K
3.
Autosomal recessive congenital cataract is associated with a novel 4-bp splicing deletion mutation in a novel C10orf71 human gene
M. Chograni, H. M. Alahdal, M. Rejili
Hum Genomics. 2023; 17: 41. Published online 2023 May 13. doi: 10.1186/s40246-023-00492-6
PMCID:
PMC10182639
ArticlePDF–1.2M
4.
Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder
Jesse M. Hunter, Lauren J. Massingham, Kandamurugu Manickam, Dennis Bartholomew, Rachel K. Williamson, Jennifer L. Schwab, Mohammad Marhabaie, Amy Siemon, Emily de los Reyes, Shalini C. Reshmi, Catherine E. Cottrell, Richard K. Wilson, Daniel C. Koboldt
Cold Spring Harb Mol Case Stud. 2022 Feb; 8(2): a006180. doi: 10.1101/mcs.a006180
PMCID:
PMC8958914
ArticlePDF–3.5M
5.
SLC6A1 G443D associated with developmental delay and epilepsy
Seth Devries, Monica Mulder, Jacob G. Charron, Jeremy W. Prokop, Paul R. Mark
Cold Spring Harb Mol Case Stud. 2020 Aug; 6(4): a005371. doi: 10.1101/mcs.a005371
PMCID:
PMC7476406
ArticlePDF–3.0M
6.
VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation
Gholson J. Lyon, Elaine Marchi, Joseph Ekstein, Vardiella Meiner, Yoel Hirsch, Sholem Scher, Edward Yang, Darryl C. De Vivo, Ricardo Madrid, Quan Li, Kai Wang, Andrea Haworth, Ilana Chilton, Wendy K. Chung, Milen Velinov
Cold Spring Harb Mol Case Stud. 2019 Dec; 5(6): a003715. doi: 10.1101/mcs.a003715
PMCID:
PMC6913149
ArticlePDF–1.0M
7.
Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay
Volkan Okur, Charles A. LeDuc, Edwin Guzman, Zaheer M. Valivullah, Kwame Anyane-Yeboa, Wendy K. Chung
Cold Spring Harb Mol Case Stud. 2019 Jun; 5(3): a004101. doi: 10.1101/mcs.a004101
PMCID:
PMC6549555
ArticlePDF–1.3M
8.
Early-onset infant epileptic encephalopathy associated with a de novo PPP3CA gene mutation
Yanyan Qian, Bingbing Wu, Yulan Lu, Xinran Dong, Qian Qin, Wenhao Zhou, Huijun Wang
Cold Spring Harb Mol Case Stud. 2018 Dec; 4(6): a002949. doi: 10.1101/mcs.a002949
PMCID:
PMC6318765
ArticlePDF–3.7M
9.
9p24 triplication in syndromic hydrocephalus with diffuse villous hyperplasia of the choroid plexus
Charuta Furey, Prince Antwi, Daniel Duran, Andrew T. Timberlake, Carol Nelson-Williams, Charles C. Matouk, Michael L. DiLuna, Murat Günel, Kristopher T. Kahle
Cold Spring Harb Mol Case Stud. 2018 Oct; 4(5): a003145. doi: 10.1101/mcs.a003145
PMCID:
PMC6169828
ArticlePDF–1.5M
10.
Co-occurrence of a maternally inherited DNMT3A duplication and a paternally inherited pathogenic variant in EZH2 in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a DNMT3A dosage effect?
Katarzyna Polonis, Patrick R. Blackburn, Raul A. Urrutia, Gwen A. Lomberk, Teresa Kruisselbrink, Margot A. Cousin, Nicole J. Boczek, Nicole L. Hoppman, Dusica Babovic-Vuksanovic, Eric W. Klee, Pavel N. Pichurin
Cold Spring Harb Mol Case Stud. 2018 Aug; 4(4): a002899. doi: 10.1101/mcs.a002899
PMCID:
PMC6071565
ArticlePDF–5.8M
11.
The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin–Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections
Nathaly M. Sweeney, Shareef A. Nahas, Shimul Chowdhury, Miguel Del Campo, Marilyn C. Jones, David P. Dimmock, Stephen F. Kingsmore, on behalf of the RCIGM Investigators
Cold Spring Harb Mol Case Stud. 2018 Jun; 4(3): a002469. doi: 10.1101/mcs.a002469
PMCID:
PMC5983173
ArticlePDF–1.1M
12.
De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism
Akemi J. Tanaka, Megan T. Cho, Rebecca Willaert, Kyle Retterer, Yuri A. Zarate, Katie Bosanko, Vikki Stefans, Kimihiko Oishi, Amy Williamson, Golder N. Wilson, Alice Basinger, Tina Barbaro-Dieber, Lucia Ortega, Susanna Sorrentino, Melissa K. Gabriel, Ilse J. Anderson, Maria J. Guillen Sacoto, Rhonda E. Schnur, Wendy K. Chung
Cold Spring Harb Mol Case Stud. 2017 Nov; 3(6): a002097. doi: 10.1101/mcs.a002097
PMCID:
PMC5701309
ArticlePDF–17M
13.
Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases
Patrick R. Blackburn, Sarah S. Barnett, Michael T. Zimmermann, Margot A. Cousin, Charu Kaiwar, Filippo Pinto e Vairo, Zhiyv Niu, Matthew J. Ferber, Raul A. Urrutia, Duygu Selcen, Eric W. Klee, Pavel N. Pichurin
Cold Spring Harb Mol Case Stud. 2017 May; 3(3): a001743. doi: 10.1101/mcs.a001743
PMCID:
PMC5411688
ArticlePDF–3.6M
14.
Disruption of mitochondrial and lysosomal functions by human CACNA1C variants expressed in HEK 293 and CHO cells
Miriam Kessi, Baiyu Chen, Langui Pan, Li Yang, Lifen Yang, Jing Peng, Fang He, Fei Yin
Front Mol Neurosci. 2023; 16: 1209760. Published online 2023 Jun 28. doi: 10.3389/fnmol.2023.1209760
PMCID:
PMC10336228
ArticlePDF–4.0M
15.
Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC23A
Swati Gupta, Somayyeh Fahiminiya, Tracy Wang, Laura Dempsey Nunez, David S. Rosenblatt, William T. Gibson, Brian Gilfix, John J. M. Bergeron, Loydie A. Jerome-Majewska
Cold Spring Harb Mol Case Stud. 2016 May; 2(3): a000737. doi: 10.1101/mcs.a000737
PMCID:
PMC4853519
ArticlePDF–4.1M
16.
Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome
Nicholas L. Rider, Bertrand Boisson, Soma Jyonouchi, Eric P. Hanson, Sergio D. Rosenzweig, Jean-Laurent Casanova, Jordan S. Orange
Front Pediatr. 2015; 3: 2. Published online 2015 Jan 30. doi: 10.3389/fped.2015.00002
Correction in:
Front Pediatr. 2015; 3: 28.
PMCID:
PMC4311608
ArticlePDF–929K
17.
Precocious puberty in Turner Syndrome: report of a case and review of the literature
Nicola Improda, Martina Rezzuto, Sara Alfano, Giancarlo Parenti, Pietro Vajro, Claudio Pignata, Mariacarolina Salerno
Ital J Pediatr. 2012; 38: 54. Published online 2012 Oct 17. doi: 10.1186/1824-7288-38-54
PMCID:
PMC3481396
ArticlePDF–1.2M
18.
Meningitis due to ampicillin-and chloramphenicol-resistant Haemophilus influenzae type b in Canada. Case report and review
Amin Kabani, Ari Joffe, Gisele Cadrain, Taj Jadavji
Can J Infect Dis. 1990 Autumn; 1(3): 92–96. doi: 10.1155/1990/691734
PMCID:
PMC3327975
ArticlePDF–8.6M
19.
Chromosomal 16p microdeletion in Rubinstein-Taybi syndrome detected by oligonucleotide-based array comparative genomic hybridization: a case report
Md A Mohd Fadley, Azli Ismail, Thong Meow Keong, Narazah Mohd Yusoff, Zubaidah Zakaria
J Med Case Reports. 2012; 6: 30. Published online 2012 Jan 23. doi: 10.1186/1752-1947-6-30
PMCID:
PMC3295639
ArticlePDF–1.9M
20.
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
ArticlePDF–2.1M

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