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Items: 1 to 20 of 290

1.
Repair protein persistence at DNA lesions characterizes XPF defect with Cockayne syndrome features
Mariangela Sabatella, Arjan F Theil, Cristina Ribeiro-Silva, Jana Slyskova, Karen Thijssen, Chantal Voskamp, Hannes Lans, Wim Vermeulen
Nucleic Acids Res. 2018 Oct 12; 46(18): 9563–9577. Published online 2018 Aug 27. doi: 10.1093/nar/gky774
PMCID:
PMC6182131
AbstractArticlePDF–3.6M
2.
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome
Georgia Vasileiou, Silvia Vergarajauregui, Sabine Endele, Bernt Popp, Christian Büttner, Arif B. Ekici, Marion Gerard, Nuria C. Bramswig, Beate Albrecht, Jill Clayton-Smith, Jenny Morton, Susan Tomkins, Karen Low, Astrid Weber, Maren Wenzel, Janine Altmüller, Yun Li, Bernd Wollnik, George Hoganson, Maria-Renée Plona, Megan T. Cho, Deciphering Developmental Disorders Study, Christian T. Thiel, Hermann-Josef Lüdecke, Tim M. Strom, Eduardo Calpena, Andrew O.M. Wilkie, Dagmar Wieczorek, Felix B. Engel, André Reis
Am J Hum Genet. 2018 Mar 1; 102(3): 468–479. Published online 2018 Feb 8. doi: 10.1016/j.ajhg.2018.01.014
PMCID:
PMC5985265
AbstractArticlePDF–2.1M
3.
Concurrent somatic KRAS mutation and germline 10q22.3-q23.2 deletion in a patient with juvenile myelomonocytic leukemia, developmental delay, and multiple malformations: a case report
Ruen Yao, Tingting Yu, Yufei Xu, Guoqiang Li, Lei Yin, Yunfang Zhou, Jian Wang, Zhilong Yan
BMC Med Genomics. 2018; 11: 60. Published online 2018 Jul 16. doi: 10.1186/s12920-018-0377-3
PMCID:
PMC6048798
AbstractArticlePDF–722K
4.
Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features
Hideyuki Takeuchi, Derek Wong, Michael Schneider, Hudson H Freeze, Megumi Takeuchi, Steven J Berardinelli, Atsuko Ito, Hane Lee, Stanley F Nelson, Robert S Haltiwanger
Glycobiology. 2018 May; 28(5): 276–283. Published online 2018 Feb 14. doi: 10.1093/glycob/cwy014
PMCID:
PMC6057529
AbstractArticlePDF–710K
5.
A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome
Malavika Hebbar, Anil Kanthi, Anju Shukla, Stephanie Bielas, Katta M Girisha
J Hum Genet. Author manuscript; available in PMC 2018 Oct 25.
Published in final edited form as: J Hum Genet. 2018 Jul; 63(8): 935–939. Published online 2018 Apr 25. doi: 10.1038/s10038-018-0462-7
PMCID:
PMC6060014
AbstractArticlePDF–382K
6.
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells
Davor Lessel, Christina Gehbauer, Nuria C Bramswig, Caroline Schluth-Bolard, Sathish Venkataramanappa, Koen L I van Gassen, Maja Hempel, Tobias B Haack, Anja Baresic, Casie A Genetti, Mariana F A Funari, Ivana Lessel, Leonie Kuhlmann, Ruth Simon, Pentao Liu, Jonas Denecke, Alma Kuechler, Ineke de Kruijff, Moneef Shoukier, Monkol Lek, Thomas Mullen, Hermann-Josef Lüdecke, Antonio M Lerario, Robin Kobbe, Thorsten Krieger, Benedicte Demeer, Marine Lebrun, Boris Keren, Caroline Nava, Julien Buratti, Alexandra Afenjar, Marwan Shinawi, Maria J Guillen Sacoto, Julie Gauthier, Fadi F Hamdan, Anne-Marie Laberge, Philippe M Campeau, Raymond J Louie, Sara S Cathey, Immo Prinz, Alexander A L Jorge, Paulien A Terhal, Boris Lenhard, Dagmar Wieczorek, Tim M Strom, Pankaj B Agrawal, Stefan Britsch, Eva Tolosa, Christian Kubisch
Brain. 2018 Aug; 141(8): 2299–2311. Published online 2018 Jul 9. doi: 10.1093/brain/awy173
PMCID:
PMC6061686
AbstractArticlePDF–1.1M
7.
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
AbstractArticlePDF–5.8M
8.
Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy
Thi Tuyet Mai Nguyen, Yoshiko Murakami, Kristen M. Wigby, Nissan V. Baratang, Justine Rousseau, Anik St-Denis, Jill A. Rosenfeld, Stephanie C. Laniewski, Julie Jones, Alejandro D. Iglesias, Marilyn C. Jones, Diane Masser-Frye, Angela E. Scheuerle, Denise L. Perry, Ryan J. Taft, Françoise Le Deist, Miles Thompson, Taroh Kinoshita, Philippe M. Campeau
Am J Hum Genet. 2018 Oct 4; 103(4): 602–611. Published online 2018 Sep 27. doi: 10.1016/j.ajhg.2018.08.014
PMCID:
PMC6174287
AbstractArticlePDF–1.9M
9.
Reduced cell surface levels of GPI‐linked markers in a new case with PIGG loss of function
Jin James Zhao, Jonatan Halvardson, Alexej Knaus, Patrik Georgii‐Hemming, Peter Baeck, Peter M. Krawitz, Ann‐Charlotte Thuresson, Lars Feuk
Hum Mutat. 2017 Oct; 38(10): 1394–1401. Published online 2017 Jun 12. doi: 10.1002/humu.23268
PMCID:
PMC6180480
AbstractArticlePDF–958K
10.
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
AbstractArticlePDF–1.1M
11.
A homozygous deleterious mutation in CDK10 is associated with agenesis of corpus callosum, retinopathy and deafness.
Vincent J. Guen, Simon Edvardson, Nitay D. Fraenkel, Aviva Fattal-Valevski, Chaim Jalas, Irene Anteby, Avraham Shaag, Talia Dor, David Gillis, Eitan Kerem, Jacqueline A. Lees, Pierre Colas, Orly Elpeleg
Am J Med Genet A. Author manuscript; available in PMC 2019 Jan 1.
Published in final edited form as: Am J Med Genet A. 2018 Jan; 176(1): 92–98. Published online 2017 Nov 12. doi: 10.1002/ajmg.a.38506
PMCID:
PMC6190576
AbstractArticlePDF–834K
12.
Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism
Joshi Stephen, Sateesh Maddirevula, Sheela Nampoothiri, John D. Burke, Matthew Herzog, Anju Shukla, Katharina Steindl, Ascia Eskin, Siddaramappa J. Patil, Pascal Joset, Hane Lee, Lisa. J. Garrett, Tadafumi Yokoyama, Nicholas Balanda, Steven P. Bodine, Nathanial J. Tolman, Patricia M. Zerfas, Allison Zheng, Georgia Ramantani, Katta M. Girisha, Cecilia Rivas, Pujar V. Suresh, Abdel Elkahloun, Hessa S. Alsaif, Salma M. Wakil, Laila Mahmoud, Rehab Ali, Michaela Prochazkova, Undiagnosed Diseases Network members, Ashok B. Kulkarni, Tawfeg Ben-Omran, Dilek Colak, H. Douglas Morris, Anita Rauch, Julian A. Martinez-Agosto, Stanley F. Nelson, Fowzan S. Alkuraya, William A. Gahl, May Christine V. Malicdan
Am J Hum Genet. 2018 Dec 6; 103(6): 948–967. Published online 2018 Dec 6. doi: 10.1016/j.ajhg.2018.11.001
PMCID:
PMC6288279
AbstractArticlePDF–3.4M
13.
Trisomy of a Down Syndrome Critical Region Globally Amplifies Transcription via HMGN1 Overexpression
Cody T. Mowery, Jaime M. Reyes, Lucia Cabal-Hierro, Kelly J. Higby, Kristen L. Karlin, Jarey H. Wang, Robert J. Kimmerling, Paloma Cejas, Klothilda Lim, Hubo Li, Takashi Furusawa, Henry W. Long, David Pellman, Bjoern Chapuy, Michael Bustin, Scott R. Manalis, Thomas F. Westbrook, Charles Y. Lin, Andrew A. Lane
Cell Rep. Author manuscript; available in PMC 2019 Jan 6.
Published in final edited form as: Cell Rep. 2018 Nov 13; 25(7): 1898–1911.e5. doi: 10.1016/j.celrep.2018.10.061
PMCID:
PMC6321629
AbstractArticlePDF–2.2M
14.
Decreased Nuclear Ascorbate Accumulation Accompanied with Altered Genomic Methylation Pattern in Fibroblasts from Arterial Tortuosity Syndrome Patients
Csilla E. Németh, Zsófia Nemoda, Péter Lőw, Pál Szabó, Erzsébet Z. Horváth, Andy Willaert, Annekatrien Boel, Bert L. Callewaert, Paul J. Coucke, Marina Colombi, Gábor Bánhegyi, Éva Margittai
Oxid Med Cell Longev. 2019; 2019: 8156592. Published online 2019 Jan 13. doi: 10.1155/2019/8156592
PMCID:
PMC6360052
AbstractArticlePDF–1.7M
15.
Case report of a child bearing a novel deleterious splicing variant in PIGT
Samantha Mason, Laura Castilla-Vallmanya, Con James, P. Ian Andrews, Susana Balcells, Daniel Grinberg, Edwin P. Kirk, Roser Urreizti
Medicine (Baltimore) 2019 Feb; 98(8): e14524. Published online 2019 Feb 22. doi: 10.1097/MD.0000000000014524
PMCID:
PMC6407924
AbstractArticlePDF–446K
16.
Two Chinese Xia‐Gibbs syndrome patients with partial growth hormone deficiency
Xinran Cheng, Fang Tang, Xuyun Hu, Hongduo Li, Mengting Li, Yiyong Fu, Li Yan, Zhonghui Li, Peng Gou, Na Su, Chunzhu Gong, Weilan He, Rong Xiang, Dongmei Bu, Yiping Shen
Mol Genet Genomic Med. 2019 Apr; 7(4): e00596. Published online 2019 Feb 6. doi: 10.1002/mgg3.596
PMCID:
PMC6465669
AbstractArticlePDF–927K
17.
A novel case of global developmental delay syndrome with microdeletion at 10p14–p15.3 and microduplication at 18p11.31–p11.32
Danyan Zhang, Yijian Zhu, Xuefei Feng, Limeng Dai, Mingfu Ma, Lianbing Li, Hong Guo, Letian Zhao, Yuping Zhang, Yun Bai
Medicine (Baltimore) 2019 Apr; 98(15): e15146. Published online 2019 Apr 12. doi: 10.1097/MD.0000000000015146
PMCID:
PMC6485806
AbstractArticlePDF–560K
18.
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy
Andreea Manole, Zane Jaunmuktane, Iain Hargreaves, Marthe H R Ludtmann, Vincenzo Salpietro, Oscar D Bello, Simon Pope, Amelie Pandraud, Alejandro Horga, Renata S Scalco, Abi Li, Balasubramaniem Ashokkumar, Charles M Lourenço, Simon Heales, Rita Horvath, Patrick F Chinnery, Camilo Toro, Andrew B Singleton, Thomas S Jacques, Andrey Y Abramov, Francesco Muntoni, Michael G Hanna, Mary M Reilly, Tamas Revesz, Dimitri M Kullmann, James E C Jepson, Henry Houlden
Brain. 2017 Nov; 140(11): 2820–2837. Published online 2017 Sep 26. doi: 10.1093/brain/awx231
PMCID:
PMC5808726
AbstractArticlePDF–1.9M
19.
tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy
Simon Edvardson, Laurence Prunetti, Aiman Arraf, Drago Haas, Jo Marie Bacusmo, Jennifer F Hu, Asas Ta-Shma, Peter C Dedon, Valérie de Crécy-Lagard, Orly Elpeleg
Eur J Hum Genet. 2017 May; 25(5): 545–551. Published online 2017 Mar 8. doi: 10.1038/ejhg.2017.30
PMCID:
PMC5437908
AbstractArticlePDF–1.0M
20.
Nephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null LAMB2 mutations
Jiro Kino, Hiroyasu Tsukaguchi, Takahisa Kimata, Huan Thanh Nguyen, Yorika Nakano, Noriko Miyake, Naomichi Matsumoto, Kazunari Kaneko
BMC Nephrol. 2017; 18: 220. Published online 2017 Jul 6. doi: 10.1186/s12882-017-0632-4
Correction in:
BMC Nephrol. 2017; 18: 271.
PMCID:
PMC5501564
AbstractArticlePDF–1.0M

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