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Select item 54950321.

Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral–facial–digital overlap syndrome

Jennifer J. Johnston, Chanjae Lee, Ingrid M. Wentzensen, Melissa A. Parisi, Molly M. Crenshaw, Julie C. Sapp, Jeffrey M. Gross, John B. Wallingford, Leslie G. Biesecker

Cold Spring Harb Mol Case Stud. 2017 Jul; 3(4): a001321. doi: 10.1101/mcs.a001321

PMCID:: PMC5495032

Abstract Article PDF–1.1M

Select item 112198622.

A second hotspot for pathogenic exon-skipping variants in CDC45

Kelly Schoch, Mischa S. G. Ruegg, Bridget J. Fellows, Joseph Cao, Sabine Uhrig, Stephanie Einsele-Scholz, Saskia Biskup, Samuel R. A. Hawarden, Vincenzo Salpietro, Valeria Capra, Undiagnosed Diseases Network, Chris M. Brown, Andrea Accogli, Vandana Shashi, Louise S. Bicknell

Eur J Hum Genet. 2024 Jul; 32(7): 786–794. Published online 2024 Mar 11. doi: 10.1038/s41431-024-01583-1

PMCID:: PMC11219862

Abstract Article PDF–2.2M

Select item 108881663.

Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome

Henrique Garcia Silveira, Carlos Eduardo Steiner, Giovana Toccoli, Luise Longo Angeloni, Júlia Lôndero Heleno, Samira Spineli-Silva, Ana Mondadori dos Santos, Társis Paiva Vieira, Maria Isabel Melaragno, Vera Lúcia Gil-da-Silva-Lopes

Genes (Basel) 2024 Feb; 15(2): 211. Published online 2024 Feb 6. doi: 10.3390/genes15020211

PMCID:: PMC10888166

Abstract Article PDF–623K

Select item 107675984.

Hearing characteristics and otoradiological abnormalities in three patients with novel pathogenic variants of KMT2D‐related Kabuki syndrome

Zhoushu Zheng, Lu Ding, Meihong Wang, Yinghui Zhang, Yihui Yang, Ming Tang, Jun Xu, Liangjiong Wang, Junhua Wu, Haibo Li

Mol Genet Genomic Med. 2024 Jan; 12(1): e2306. Published online 2023 Nov 3. doi: 10.1002/mgg3.2306

PMCID:: PMC10767598

Abstract Article PDF–1.3M

Select item 106209445.

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

Elisa Cali, Mohnish Suri, Marcello Scala, Matteo P. Ferla, Shahryar Alavi, Eissa Ali Faqeih, Emilia K. Bijlsma, Kristen M. Wigby, Diana Baralle, Mohammad Y.V. Mehrjardi, Jennifer Schwab, Konrad Platzer, Katharina Steindl, Mais Hashem, Marilyn Jones, Dmitriy M. Niyazov, Jennifer Jacober, Rebecca Okashah Littlejohn, Denisa Weis, Neda Zadeh, Lance Rodan, Alice Goldenberg, François Lecoquierre, Marina Dutra-Clarke, Gabriella Horvath, Dana Young, Naama Orenstein, Shahad Bawazeer, Anneke T. Vulto-van Silfhout, Yvan Herenger, Mohammadreza Dehghani, Seyed Mohammad Seyedhassani, Amir Bahreini, Mahya E. Nasab, A. Gulhan Ercan-Sencicek, Zahra Firoozfar, Mojtaba Movahedinia, Stephanie Efthymiou, Pasquale Striano, Ehsan Ghayoor Karimiani, Vincenzo Salpietro, Jenny C. Taylor, Melody Redman, Alexander P.A. Stegmann, Andreas Laner, Ghada Abdel-Salam, Megan Li, Mario Bengala, Amelie Johanna Müller, Maria C. Digilio, Anita Rauch, Murat Gunel, Hannah Titheradge, Daniela N. Schweitzer, Alison Kraus, Irene Valenzuela, Scott D. McLean, Chanika Phornphutkul, Mustafa Salih, Amber Begtrup, Rhonda E. Schnur, Erin Torti, Tobias B. Haack, Carlos E. Prada, Fowzan S. Alkuraya, Henry Houlden, Reza Maroofian

Genet Med. 2023 Jan; 25(1): 135–142. doi: 10.1016/j.gim.2022.09.016

PMCID:: PMC10620944

Abstract Article PDF–1.9M

Select item 103358156.

A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy

Bryce A. Mendelsohn, Daniah T. Beleford, Aya Abu-El-Haija, Norah S. Alsaleh, Zuhair Rahbeeni, Pierre-Marie Martin, Shannon Rego, Alyssa Huang, Gina Capodanno, Joseph T. Shieh, Jessica Van Ziffle, Neil Risch, Fowzan S. Alkuraya, Anne M. Slavotinek

Am J Med Genet A. Author manuscript; available in PMC 2023 Jul 11.

Published in final edited form as: Am J Med Genet A. 2020 Mar; 182(3): 513–520. Published online 2019 Dec 27. doi: 10.1002/ajmg.a.61450

PMCID:: PMC10335815

Abstract Article PDF–1.2M

Select item 95599067.

Focal Dermal Hypoplasia with Osteopathia Striata

Shefa S. Almashaqbeh, Diana S. Aljammal, Hend M. Alharahsheh, Samer F. Alqudah, Rana A. Alkrimeen

Med Arch. 2022 Aug; 76(4): 301–304. doi: 10.5455/medarh.2022.76.301-304

PMCID:: PMC9559906

Abstract Article PDF–277K

Select item 95433568.

Keratosis pilaris and filaggrin loss‐of‐function mutations in patients with atopic dermatitis – Results of a Finnish cross‐sectional study

Alexander Salava, Ville Salo, Anita Remitz

J Dermatol. 2022 Sep; 49(9): 928–932. Published online 2022 May 26. doi: 10.1111/1346-8138.16477

PMCID:: PMC9543356

Abstract Article PDF–680K

Select item 91415989.

Prominent Follicular Keratosis in Multiple Intestinal Atresia with Combined Immune Deficiency Caused by a TTC7A Homozygous Mutation

Andrea Diociaiuti, Roberta Caruso, Silvia Ricci, Rita De Vito, Luisa Strocchio, Daniele Castiglia, Giovanna Zambruno, May El Hachem

Genes (Basel) 2022 May; 13(5): 821. Published online 2022 May 4. doi: 10.3390/genes13050821

PMCID:: PMC9141598

Abstract Article PDF–1.9M

Select item 914041410.

A Novel de Novo Variant in 5′ UTR of the NIPBL Associated with Cornelia de Lange Syndrome

Yonghua Chen, Qingqing Chen, Ke Yuan, Jianfang Zhu, Yanlan Fang, Qingfeng Yan, Chunlin Wang

Genes (Basel) 2022 May; 13(5): 740. Published online 2022 Apr 22. doi: 10.3390/genes13050740

PMCID:: PMC9140414

Abstract Article PDF–2.5M

Select item 855512911.

Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea

Yena Lee, Yunha Choi, Go Hun Seo, Gu-Hwan Kim, Changwon Keum, Yoo-Mi Kim, Hyo-Sang Do, Jeongmin Choi, In Hee Choi, Han-Wook Yoo, Beom Hee Lee

BMC Med Genomics. 2021; 14: 254. Published online 2021 Oct 27. doi: 10.1186/s12920-021-01104-9

PMCID:: PMC8555129

Abstract Article PDF–767K

Select item 851514112.

A Chinese Case of Cornelia de Lange Syndrome Caused by a Pathogenic Variant in SMC3 and a Literature Review

Ran Li, Bowen Tian, Hanting Liang, Meiping Chen, Hongbo Yang, Linjie Wang, Hui Pan, Huijuan Zhu

Front Endocrinol (Lausanne) 2021; 12: 604500. Published online 2021 Sep 30. doi: 10.3389/fendo.2021.604500

PMCID:: PMC8515141

Abstract Article PDF–712K

Select item 815651113.

Ectodermal Dysplasia-Syndactyly Syndrome with Toe-Only Minimal Syndactyly Due to a Novel Mutation in NECTIN4: A Case Report and Literature Review

Roberta Rotunno, Andrea Diociaiuti, Maria Lisa Dentici, Martina Rinelli, Michele Callea, Chiara Retrosi, Giovanna Zambruno, Emanuele Bellacchio, May El Hachem

Genes (Basel) 2021 May; 12(5): 748. Published online 2021 May 17. doi: 10.3390/genes12050748

PMCID:: PMC8156511

Abstract Article PDF–2.9M

Select item 754955514.

TRPS1 mutation detection in Chinese patients with Tricho‐rhino‐phalangeal syndrome and identification of four novel mutations

Chen Wang, Yufei Xu, Yanrong Qing, Ruen Yao, Niu Li, Xiumin Wang, Tingting Yu, Jian Wang

Mol Genet Genomic Med. 2020 Oct; 8(10): e1417. Published online 2020 Aug 10. doi: 10.1002/mgg3.1417

PMCID:: PMC7549555

Abstract Article PDF–2.3M

Select item 747358115.

Clinical and molecular spectrum of CHOPS syndrome

Sarah E. Raible, Devanshi Mehta, Chiara Bettale, Sarah Fiordaliso, Maninder Kaur, Livija Medne, Marlene Rio, Eric Haan, Susan M. White, Kristina Cusmano-Ozog, Eriko Nishi, Yiran Guo, Honglin Wu, Xiaoqing Shi, Qingjie Zhao, Xueqin Zhang, Qi Lei, Aimei Lu, Xiyu He, Nobuhiko Okamoto, Noriko Miyake, Joseph Piccione, Julian Allen, Naomichi Matsumoto, Mary Pipan, Ian D. Krantz, Kosuke Izumi

Am J Med Genet A. Author manuscript; available in PMC 2020 Sep 4.

Published in final edited form as: Am J Med Genet A. 2019 Jul; 179(7): 1126–1138. Published online 2019 May 6. doi: 10.1002/ajmg.a.61174

PMCID:: PMC7473581

Abstract Article PDF–2.2M

Select item 729500616.

Phenotypic Expansion of KMT2D-Related Disorder: Beyond Kabuki Syndrome

Dustin Baldridge, Rebecca C. Spillmann, Daniel J. Wegner, Jennifer A. Wambach, Frances V. White, Kathleen Sisco, Tomi L. Toler, Patricia I. Dickson, F. Sessions Cole, Vandana Shashi, Dorothy K. Grange

Am J Med Genet A. Author manuscript; available in PMC 2021 May 1.

Published in final edited form as: Am J Med Genet A. 2020 May; 182(5): 1053–1065. Published online 2020 Feb 21. doi: 10.1002/ajmg.a.61518

PMCID:: PMC7295006

Abstract Article PDF–952K

Select item 727348417.

The Novel Compound Heterozygous Mutations of ECEL1 Identified in a Family with Distal Arthrogryposis Type 5D

Jie-Yuan Jin, Dan-Yu Liu, Zi-Jun Jiao, Yi Dong, Jie Li, Rong Xiang

Biomed Res Int. 2020; 2020: 2149342. Published online 2020 May 23. doi: 10.1155/2020/2149342

PMCID:: PMC7273484

Abstract Article PDF–1.0M

Select item 691315318.

An intragenic duplication of TRPS1 leading to abnormal transcripts and causing trichorhinophalangeal syndrome type I

Cinthya J. Zepeda-Mendoza, Margot A. Cousin, Shubham Basu, Garrett Jenkinson, Gavin Oliver, Siobhan T. Pittock, Linda B. Baughn, Eric W. Klee, Dusica Babovic-Vuksanovic

Cold Spring Harb Mol Case Stud. 2019 Dec; 5(6): a004655. doi: 10.1101/mcs.a004655

PMCID:: PMC6913153

Abstract Article PDF–3.0M

Select item 691314619.

Three rare disease diagnoses in one patient through exome sequencing

Alejandro Ferrer, Laura Schultz-Rogers, Charu Kaiwar, Jennifer L. Kemppainen, Eric W. Klee, Ralitza H. Gavrilova

Cold Spring Harb Mol Case Stud. 2019 Dec; 5(6): a004390. doi: 10.1101/mcs.a004390

PMCID:: PMC6913146

Abstract Article PDF–1.1M

Select item 675227320.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Pleuntje J. van der Sluijs, Sandra Jansen, Samantha A. Vergano, Miho Adachi-Fukuda, Yasemin Alanay, Adila AlKindy, Anwar Baban, Allan Bayat, Stefanie Beck-Wödl, Katherine Berry, Emilia K. Bijlsma, Levinus A. Bok, Alwin F. J. Brouwer, Ineke van der Burgt, Philippe M. Campeau, Natalie Canham, Krystyna Chrzanowska, Yoyo W. Y. Chu, Brain H. Y. Chung, Karin Dahan, Marjan De Rademaeker, Anne Destree, Tracy Dudding-Byth, Rachel Earl, Nursel Elcioglu, Ellen R. Elias, Christina Fagerberg, Alice Gardham, Blanca Gener, Erica H. Gerkes, Ute Grasshoff, Arie van Haeringen, Karin R. Heitink, Johanna C. Herkert, Nicolette S. den Hollander, Denise Horn, David Hunt, Sarina G. Kant, Mitsuhiro Kato, Hülya Kayserili, Rogier Kersseboom, Esra Kilic, Malgorzata Krajewska-Walasek, Kylin Lammers, Lone W. Laulund, Damien Lederer, Melissa Lees, Vanesa López-González, Saskia Maas, Grazia M. S. Mancini, Carlo Marcelis, Francisco Martinez, Isabelle Maystadt, Marianne McGuire, Shane McKee, Sarju Mehta, Kay Metcalfe, Jeff Milunsky, Seiji Mizuno, John B. Moeschler, Christian Netzer, Charlotte W. Ockeloen, Barbara Oehl-Jaschkowitz, Nobuhiko Okamoto, Sharon N. M. Olminkhof, Carmen Orellana, Laurent Pasquier, Caroline Pottinger, Vera Riehmer, Stephen P. Robertson, Maian Roifman, Caroline Rooryck, Fabienne G. Ropers, Monica Rosello, Claudia A. L. Ruivenkamp, Mahmut S. Sagiroglu, Suzanne C. E. H. Sallevelt, Amparo Sanchis Calvo, Pelin O. Simsek-Kiper, Gabriela Soares, Lucia Solaeche, Fatma Mujgan Sonmez, Miranda Splitt, Duco Steenbeek, Alexander P. A. Stegmann, Constance T. R. M. Stumpel, Saori Tanabe, Eyyup Uctepe, G. Eda Utine, Hermine E. Veenstra-Knol, Sunita Venkateswaran, Catheline Vilain, Catherine Vincent-Delorme, Anneke T. Vulto-van Silfhout, Patricia Wheeler, Golder N. Wilson, Louise C. Wilson, Bernd Wollnik, Tomoki Kosho, Dagmar Wieczorek, Evan Eichler, Rolph Pfundt, Bert B. A. de Vries, Jill Clayton-Smith, Gijs W. E. Santen

Genet Med. 2019; 21(6): 1295–1307. Published online 2018 Nov 8. doi: 10.1038/s41436-018-0330-z

Correction in:: Genet Med. 2019; 21(9): 2160–2161.

PMCID:: PMC6752273

Abstract Article PDF–488K

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