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Select item 104639781.

A novel smoothed (SMO) point mutation in congenital tibial hemimelia: a case report

Xiaodong Yang, Siyu Pu, Bo Xiang, Xueyang Tang, Jing Chen

BMC Pediatr. 2023; 23: 424. Published online 2023 Aug 25. doi: 10.1186/s12887-023-04167-y

PMCID:: PMC10463978

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Select item 103589922.

Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease

Magdaléna Neřoldová, Elżbieta Ciara, Janka Slatinská, Soňa Fraňková, Petra Lišková, Radana Kotalová, Janka Globinovská, Markéta Šafaříková, Lucie Pfeiferová, Hana Zůnová, Lenka Mrázová, Viktor Stránecký, Alena Vrbacká, Ondřej Fabián, Eva Sticová, Daniela Skanderová, Jan Šperl, Marta Kalousová, Tomáš Zima, Milan Macek, Joanna Pawlowska, A. S. Knisely, Stanislav Kmoch, Milan Jirsa

PLoS One. 2023; 18(7): e0288907. Published online 2023 Jul 20. doi: 10.1371/journal.pone.0288907

PMCID:: PMC10358992

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Select item 103477703.

Delineation of the phenotypes and genotypes of facial infiltrating lipomatosis associated with PIK3CA mutations

Hongrui Chen, Bin Sun, Wei Gao, Yajing Qiu, Chen Hua, Xiaoxi Lin

Orphanet J Rare Dis. 2023; 18: 189. Published online 2023 Jul 14. doi: 10.1186/s13023-023-02786-3

PMCID:: PMC10347770

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Select item 102759234.

A missense variant at the RAC1-PAK1 binding site of RAC1 inactivates downstream signaling in VACTERL association

Rie Seyama, Masashi Nishikawa, Yuri Uchiyama, Keisuke Hamada, Yuka Yamamoto, Masahiro Takeda, Takanori Ochi, Monami Kishi, Toshifumi Suzuki, Kohei Hamanaka, Atsushi Fujita, Naomi Tsuchida, Eriko Koshimizu, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Shintaro Makino, Takashi Yao, Hidenori Ito, Atsuo Itakura, Kazuhiro Ogata, Koh-ichi Nagata, Naomichi Matsumoto

Sci Rep. 2023; 13: 9789. Published online 2023 Jun 16. doi: 10.1038/s41598-023-36381-0

PMCID:: PMC10275923

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Select item 102575595.

De Novo GLI3 Pathogenic Variants May Cause Hypotonia and a Range of Brain Malformations Without Skeletal Abnormalities

Lyna Siafa, Emanuela Argilli, Elliott H. Sherr, Kenneth A. Myers

Pediatr Neurol. Author manuscript; available in PMC 2023 Jun 11.

Published in final edited form as: Pediatr Neurol. 2022 Jun; 131: 1–3. Published online 2022 Mar 31. doi: 10.1016/j.pediatrneurol.2022.03.005

PMCID:: PMC10257559

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Select item 102185726.

WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects

Adella Karam, Clarisse Delvallée, Alejandro Estrada-Cuzcano, Véronique Geoffroy, Jean-Baptiste Lamouche, Anne-Sophie Leuvrey, Elsa Nourisson, Julien Tarabeux, Corinne Stoetzel, Sophie Scheidecker, Louise Frances Porter, Emmanuelle Génin, Richard Redon, Florian Sandron, Anne Boland, Jean-François Deleuze, Nicolas Le May, Hélène Dollfus, Jean Muller

Int J Mol Sci. 2023 May; 24(10): 8729. Published online 2023 May 13. doi: 10.3390/ijms24108729

PMCID:: PMC10218572

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Select item 102179287.

Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet–Biedl Syndrome

Hamed Nawaz, Mujahid, Sher Alam Khan, Farhana Bibi, Ahmed Waqas, Abdul Bari, Fardous, Niamatullah Khan, Nazif Muhammad, Amjad Khan, Sohail Aziz Paracha, Qamre Alam, Mohammad Azhar Kamal, Misbahuddin M. Rafeeq, Noor Muhammad, Fayaz Ul Haq, Shazia Khan, Arif Mahmood, Saadullah Khan, Muhammad Umair

Genes (Basel) 2023 May; 14(5): 1113. Published online 2023 May 19. doi: 10.3390/genes14051113

PMCID:: PMC10217928

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Select item 101376108.

Identification of Compound Heterozygous EVC2 Gene Variants in Two Mexican Families with Ellis–van Creveld Syndrome

Nancy Negrete-Torres, María del Carmen Chima-Galán, Ernesto Antonio Sierra-López, Janet Sánchez-Ramos, Isela Álvarez-González, Julia Reyes-Reali, María Isabel Mendoza-Ramos, Efraín Garrido-Guerrero, Dante Amato, Claudia Fabiola Méndez-Catalá, Glustein Pozo-Molina, Adolfo René Méndez-Cruz

Genes (Basel) 2023 Apr; 14(4): 887. Published online 2023 Apr 9. doi: 10.3390/genes14040887

PMCID:: PMC10137610

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Select item 101375759.

Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly

Safeer Ahmad, Muhammad Zeeshan Ali, Muhammad Muzammal, Amjad Ullah Khan, Muhammad Ikram, Mari Muurinen, Shabir Hussain, Petra Loid, Muzammil Ahmad Khan, Outi Mäkitie

Genes (Basel) 2023 Apr; 14(4): 869. Published online 2023 Apr 5. doi: 10.3390/genes14040869

PMCID:: PMC10137575

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Select item 1007411810.

Ubiquitylation of BBSome is required for ciliary assembly and signaling

Francesco Chiuso, Rossella delle Donne, Giuliana Giamundo, Laura Rinaldi, Domenica Borzacchiello, Federica Moraca, Daniela Intartaglia, Rosa Iannucci, Emanuela Senatore, Luca Lignitto, Corrado Garbi, Paolo Conflitti, Bruno Catalanotti, Ivan Conte, Antonio Feliciello

EMBO Rep. 2023 Apr; 24(4): e55571. Published online 2023 Feb 6. doi: 10.15252/embr.202255571

PMCID:: PMC10074118

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Select item 1001399111.

Holoprosencephaly in Patau Syndrome

Amanda de Souza Schlosser, Giovani José Coury Costa, Henrique Salmazo da Silva, Juan Luca Menezes de Mello, Lucy de Oliveira Gomes, Marina Michalski Oliveira Onoyama, Tatiana Martins Coury Costa

Rev Paul Pediatr. 2023; 41: e2022027. Published online 2023 Mar 13. doi: 10.1590/1984-0462/2023/41/2022027

PMCID:: PMC10013991

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Select item 993158812.

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases

Martin A. Mensah, Henri Niskanen, Alexandre P. Magalhaes, Shaon Basu, Martin Kircher, Henrike L. Sczakiel, Alisa M. V. Reiter, Jonas Elsner, Peter Meinecke, Saskia Biskup, Brian H. Y. Chung, Gregor Dombrowsky, Christel Eckmann-Scholz, Marc Phillip Hitz, Alexander Hoischen, Paul-Martin Holterhus, Wiebke Hülsemann, Kimia Kahrizi, Vera M. Kalscheuer, Anita Kan, Mandy Krumbiegel, Ingo Kurth, Jonas Leubner, Ann Carolin Longardt, Jörg D. Moritz, Hossein Najmabadi, Karolina Skipalova, Lot Snijders Blok, Andreas Tzschach, Eberhard Wiedersberg, Martin Zenker, Carla Garcia-Cabau, René Buschow, Xavier Salvatella, Matthew L. Kraushar, Stefan Mundlos, Almuth Caliebe, Malte Spielmann, Denise Horn, Denes Hnisz

Nature. 2023; 614(7948): 564–571. Published online 2023 Feb 8. doi: 10.1038/s41586-022-05682-1

PMCID:: PMC9931588

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Select item 985853313.

Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations

Piranit Kantaputra, Prapai Dejkhamron, Rekwan Sittiwangkul, Kamornwan Katanyuwong, Chumpol Ngamphiw, Nuntigar Sonsuwan, Worrachet Intachai, Sissades Tongsima, Philip L. Beales, Worakanya Buranaphatthana

Genes (Basel) 2023 Jan; 14(1): 84. Published online 2022 Dec 27. doi: 10.3390/genes14010084

PMCID:: PMC9858533

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Select item 982558014.

ChromLoops: a comprehensive database for specific protein-mediated chromatin loops in diverse organisms

Qiangwei Zhou, Sheng Cheng, Shanshan Zheng, Zhenji Wang, Pengpeng Guan, Zhixian Zhu, Xingyu Huang, Cong Zhou, Guoliang Li

Nucleic Acids Res. 2023 Jan 6; 51(D1): D57–D69. Published online 2022 Oct 16. doi: 10.1093/nar/gkac893

PMCID:: PMC9825580

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Select item 980855015.

Characterization of a novel deep-intronic variant in DYNC2H1 identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III

Muqsit Buchh, Patrick J. Gillespie, Kayla Treat, Marco A. Abreu, Tae-Hwi Linus Schwantes-An, Benjamin M. Helm, Fang Fang, Xiaoling Xuei, Lili Mantcheva, Kristen R. Suhrie, Brett H. Graham, Erin Conboy, Francesco Vetrini

Cold Spring Harb Mol Case Stud. 2022 Dec; 8(7): a006254. doi: 10.1101/mcs.a006254

PMCID:: PMC9808550

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Select item 977126816.

A Japanese boy with Bardet-Biedl syndrome caused by a novel homozygous variant in the ARL6 gene who was initially diagnosed with retinitis punctata albescens: A case report

Keitaro Mizumoto, Kumiko Kato, Kaoru Fujinami, Tadasu Sugita, Iichiro Sugita, Ayako Hattori, Shinji Saitoh, Shinji Ueno, Kazushige Tsunoda, Takeshi Iwata, Mineo Kondo

Medicine (Baltimore) 2022 Dec 16; 101(50): e32161. Published online 2022 Dec 16. doi: 10.1097/MD.0000000000032161

PMCID:: PMC9771268

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Select item 977123517.

A review of polydactyly and its inheritance: Connecting the dots

Dalal K Bubshait

Medicine (Baltimore) 2022 Dec 16; 101(50): e32060. Published online 2022 Dec 16. doi: 10.1097/MD.0000000000032060

PMCID:: PMC9771235

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Select item 975614118.

De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome

Monica Penon-Portmann, Mohammad K. Eldomery, Lorraine Potocki, Dana Marafi, Jennifer E. Posey, Zeynep Coban-Akdemir, Tamar Harel, Christopher M. Grochowski, Hailey Loucks, W. Patrick Devine, Jessica van Ziffle, Dan Doherty, James R. Lupski, Joseph T. Shieh

Am J Med Genet A. Author manuscript; available in PMC 2023 Aug 1.

Published in final edited form as: Am J Med Genet A. 2022 Aug; 188(8): 2360–2366. Published online 2022 Jun 25. doi: 10.1002/ajmg.a.62872

PMCID:: PMC9756141

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Select item 974495619.

Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B

Luke Viehl, Daniel J. Wegner, Stanley P. Hmiel, Frances V. White, Sanjay Jain, F. S. Cole, Jennifer A. Wambach

Pediatr Nephrol. Author manuscript; available in PMC 2023 Feb 1.

Published in final edited form as: Pediatr Nephrol. 2023 Feb; 38(2): 605–609. Published online 2022 Jun 13. doi: 10.1007/s00467-022-05616-z

PMCID:: PMC9744956

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Select item 968753720.

Disease-associated mutations in WDR34 lead to diverse impacts on the assembly and function of dynein-2

Caroline Shak, Laura Vuolo, Borhan Uddin, Yohei Katoh, Tom Brown, Aakash G. Mukhopadhyay, Kate Heesom, Anthony J. Roberts, Nicola Stevenson, Kazuhisa Nakayama, David J. Stephens

J Cell Sci. 2023 Mar 1; 136(5): jcs260073. Published online 2022 Nov 7. doi: 10.1242/jcs.260073

PMCID:: PMC9687537

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