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Select item 110354661.

Sujuan Li, Anran Tian, Yu Wen, Wei Gu, Wei Li, Xiaohong Qiao, Cai Zhang, Xiaoping Luo

Eur J Pediatr. 2024; 183(5): 2257–2272. Published online 2024 Feb 27. doi: 10.1007/s00431-024-05484-9

PMCID:: PMC11035466

Article PDF–1.8M

Select item 110157082.

Prenatal Coffin-Siris Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Disease

Sini Keskinen, Teija Paakkola, Mirjami Mattila, Marja Hietala, Hannele Koillinen, Jukka Laine, Maria K. Haanpää

Pediatr Dev Pathol. 2024 Mar-Apr; 27(2): 181–186. Published online 2023 Nov 19. doi: 10.1177/10935266231210155

PMCID:: PMC11015708

Article PDF–911K

Select item 109528333.

Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re‐classification of an ARID1B missense variant

Caitlin Forwood, Katie Ashton, Ying Zhu, Futao Zhang, Kerith‐Rae Dias, Krystle Standen, Carey‐Anne Evans, Louise Carey, Michael Cardamone, Carolyn Shalhoub, Hala Katf, Carlos Riveros, Tzung‐Chien Hsieh, Peter Krawitz, Peter N Robinson, Tracy Dudding‐Byth, Bekim Sadikovic, Jason Pinner, Michael F. Buckley, Tony Roscioli

Am J Med Genet C Semin Med Genet. 2023 Sep; 193(3): e32056. Published online 2023 Aug 31. doi: 10.1002/ajmg.c.32056

PMCID:: PMC10952833

Article PDF–1.9M

Select item 108150614.

Gollop–Wolfgang Complex Is Associated with a Monoallelic Variation in WNT11

Adrian Odrzywolski, Beyhan Tüysüz, Philippe Debeer, Erika Souche, Arnout Voet, Boyan Dimitrov, Paulina Krzesińska, Joris Robert Vermeesch, Przemko Tylzanowski

Genes (Basel) 2024 Jan; 15(1): 129. Published online 2024 Jan 20. doi: 10.3390/genes15010129

PMCID:: PMC10815061

Article PDF–2.5M

Select item 105212545.

Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism

Nadja Ehmke, Kristina Cusmano-Ozog, Rainer Koenig, Manuel Holtgrewe, Banu Nur, Ercan Mihci, Holly Babcock, Claudia Gonzaga-Jauregui, John D. Overton, Jing Xiao, Ariel Martinez, Max Muenke, Alexander Balzer, Judith Jochim, Naji El Choubassi, Björn Fischer-Zirnsak, Céline Huber, Uwe Kornak, Sarah Elsea, Valérie Cormier-Daire, Carlos R. Ferreira

Bone. Author manuscript; available in PMC 2023 Sep 26.

Published in final edited form as: Bone. 2020 Apr; 133: 115219. Published online 2020 Jan 7. doi: 10.1016/j.bone.2019.115219

PMCID:: PMC10521254

Article PDF–1.0M

Select item 104425106.

Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors

Dimuthu Alankarage, Annabelle Enriquez, Robert D Steine, Cathy Raggio, Megan Higgins, Di Milnes, David T Humphreys, Emma L Duncan, Duncan B Sparrow, Philip F Giampietro, Gavin Chapman, Sally L Dunwoodie

Differentiation. Author manuscript; available in PMC 2023 Aug 22.

Published in final edited form as: Differentiation. 2022 Nov-Dec; 128: 1–12. Published online 2022 Sep 24. doi: 10.1016/j.diff.2022.09.002

PMCID:: PMC10442510

Article PDF–1.6M

Select item 101001077.

Two SOX11 variants cause Coffin–Siris syndrome with a new feature of sensorineural hearing loss

Qiuquan Wang, Jie Wu, Jinyuan Yang, Shasha Huang, Yongyi Yuan, Pu Dai

Am J Med Genet A. 2023 Jan; 191(1): 183–189. Published online 2022 Nov 11. doi: 10.1002/ajmg.a.63011

PMCID:: PMC10100107

Article PDF–3.7M

Select item 95924728.

Triphalangeal thump, thumb duplication, and syndactyly: The first case report in the literature

Sarya Swed, Abdulqadir J. Nashwan, Hiba Haj Saleh, Yamane Chawa, Alaa Baria, Aladdin Etr

Medicine (Baltimore) 2022 Oct 21; 101(42): e31237. Published online 2022 Oct 21. doi: 10.1097/MD.0000000000031237

PMCID:: PMC9592472

Article PDF–421K

Select item 94787149.

Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of 18q12.3 encompassing SETBP1

Yaqing Zhou, Yan Quan, Yijun Wu, Yinxing Zhang

J Int Med Res. 2022 Sep; 50(9): 03000605221121955. Published online 2022 Sep 13. doi: 10.1177/03000605221121955

PMCID:: PMC9478714

Article PDF–515K

Select item 944677010.

A novel variant in the ROR2 gene underlying brachydactyly type B: a case report

Jiaqi Shao, Yue Liu, Shuyang Zhao, Weisheng Sun, Jie Zhan, Lihua Cao

BMC Pediatr. 2022; 22: 528. Published online 2022 Sep 5. doi: 10.1186/s12887-022-03564-z

PMCID:: PMC9446770

Article PDF–1.5M

Select item 943347011.

Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome

Marco Angelozzi, Anirudha Karvande, Arnaud N Molin, Alyssa L Ritter, Jacqueline M M Leonard, Juliann M Savatt, Kristen Douglass, Scott M Myers, Mina Grippa, Dara Tolchin, Elaine Zackai, Sarah Donoghue, Anna C E Hurst, Maria Descartes, Kirstin Smith, Danita Velasco, Andrew Schmanski, Amy Crunk, Mari J Tokita, Iris M de Lange, Koen van Gassen, Hannah Robinson, Katie Guegan, Mohnish Suri, Chirag Patel, Marie Bournez, Laurence Faivre, Frédéric Tran-Mau-Them, Janice Baker, Noelle Fabie, K Weaver, Amelle Shillington, Robert J Hopkin, Daniela Q C.M Barge-Schaapveld, Claudia AL Ruivenkamp, Regina Bökenkamp, Samantha Vergano, Maria Noelia Seco Moro, Aranzazu Díaz de Bustamante, Vinod K Misra, Kelly Kennelly, Caleb Rogers, Jennifer Friedman, Kristen M Wigby, Jerica Lenberg, Claudio Graziano, Rebecca C Ahrens-Nicklas, Veronique Lefebvre

J Med Genet. Author manuscript; available in PMC 2022 Nov 1.

Published in final edited form as: J Med Genet. 2022 Nov; 59(11): 1058–1068. Published online 2022 Mar 1. doi: 10.1136/jmedgenet-2021-108375

PMCID:: PMC9433470

Article PDF–3.1M

Select item 937857712.

Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia

Yoel Gofin, Xiaonan Zhao, Amanda Gerard, Fernando Scaglia, Michael F. Wangler, Samantha A. Schrier Vergano, Daryl A. Scott

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

Published in final edited form as: Am J Med Genet A. 2022 Sep; 188(9): 2718–2723. Published online 2022 Jul 7. doi: 10.1002/ajmg.a.62889

PMCID:: PMC9378577

Article PDF–229K

Select item 937854413.

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

Pleuntje J. van der Sluijs, Marieke Joosten, Caroline Alby, Tania Attié-Bitach, Kelly Gilmore, Christele Dubourg, Mélanie Fradin, Tianyun Wang, Evangeline C. Kurtz-Nelson, Kaitlyn P. Ahlers, Peer Arts, Christopher P. Barnett, Myla Ashfaq, Anwar Baban, Myrthe van den Born, Sarah Borrie, Tiffany Busa, Alicia Byrne, Miriam Carriero, Claudia Cesario, Karen Chong, Anna Maria Cueto-González, Jennifer C. Dempsey, Karin E.M. Diderich, Dan Doherty, Stense Farholt, Erica H. Gerkes, Svetlana Gorokhova, Lutgarde C.P. Govaerts, Pernille A. Gregersen, Scott E. Hickey, Mathilde Lefebvre, Francesca Mari, Jelena Martinovic, Hope Northrup, Melanie O’Leary, Kareesma Parbhoo, Sophie Patrier, Bernt Popp, Fernando Santos-Simarro, Corinna Stoltenburg, Christel Thauvin-Robinet, Elisabeth Thompson, Anneke T. Vulto-van Silfhout, Farah R. Zahir, Hamish S. Scott, Rachel K. Earl, Evan E. Eichler, Neeta L. Vora, Yael Wilnai, Jessica L. Giordano, Ronald J. Wapner, Jill A. Rosenfeld, Monique C. Haak, Gijs W.E. Santen

Genet Med. Author manuscript; available in PMC 2023 Feb 1.

Published in final edited form as: Genet Med. 2022 Aug; 24(8): 1753–1760. Published online 2022 May 18. doi: 10.1016/j.gim.2022.04.010

Correction in:: Genet Med. 2023 Feb; 25(2): 100004.

PMCID:: PMC9378544

Article PDF–129K

Select item 937542514.

Short stature and melanocytic nevi in a girl with ARID1B-related Coffin-Siris syndrome: a case report

Dong-Ying Tao, Huan-Hong Niu, Jing-Jing Zhang, Hui-Qin Zhang, Ming-Hua Zeng, Sheng-Quan Cheng

BMC Pediatr. 2022; 22: 486. Published online 2022 Aug 13. doi: 10.1186/s12887-022-03535-4

PMCID:: PMC9375425

Article PDF–965K

Select item 936339015.

Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis

Giulia Napoli, Noemi Panzironi, Alice Traversa, Caterina Catalanotto, Valentina Pace, Francesco Petrizzelli, Agnese Giovannetti, Sara Lazzari, Carlo Cogoni, Marco Tartaglia, Massimo Carella, Tommaso Mazza, Antonio Pizzuti, Chiara Parisi, Viviana Caputo

Mol Neurobiol. 2022; 59(8): 4825–4838. Published online 2022 May 31. doi: 10.1007/s12035-022-02886-4

PMCID:: PMC9363390

Article PDF–3.6M

Select item 933865716.

Natural history of Myhre syndrome

David Dawei Yang, Marlene Rio, Caroline Michot, Nathalie Boddaert, Wael Yacoub, Nicolas Garcelon, Briac Thierry, Damien Bonnet, Sophie Rondeau, Dominique Herve, Stephanie Guey, Francois Angoulvant, Valerie Cormier-Daire

Orphanet J Rare Dis. 2022; 17: 304. Published online 2022 Jul 30. doi: 10.1186/s13023-022-02447-x

PMCID:: PMC9338657

Article PDF–1.3M

Select item 932160417.

Novel truncating variants in FGD1 detected in two Danish families with Aarskog–Scott syndrome and myopathic features

Allan Bayat, Bjørg Krett, Morten Dunø, Pernille Mathiesen Torring, John Vissing

Am J Med Genet A. 2022 Jul; 188(7): 2251–2257. Published online 2022 Apr 7. doi: 10.1002/ajmg.a.62753

PMCID:: PMC9321604

Article PDF–9.4M

Select item 924554718.

Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome

Dong Li, Michael E. March, Paola Fortugno, Liza L. Cox, Leticia S. Matsuoka, Rosanna Monetta, Christoph Seiler, Louise C. Pyle, Emma C. Bedoukian, María José Sánchez-Soler, Oana Caluseriu, Katheryn Grand, Allison Tam, Alicia R. P. Aycinena, Letizia Camerota, Yiran Guo, Patrick Sleiman, Bert Callewaert, Candy Kumps, Annelies Dheedene, Michael Buckley, Edwin P. Kirk, Anne Turner, Benjamin Kamien, Chirag Patel, Meredith Wilson, Tony Roscioli, John Christodoulou, Timothy C. Cox, Elaine H. Zackai, Francesco Brancati, Hakon Hakonarson, Elizabeth J. Bhoj

Hum Genet. Author manuscript; available in PMC 2022 Jun 30.

Published in final edited form as: Hum Genet. 2021 Jul; 140(7): 1061–1076. Published online 2021 Apr 3. doi: 10.1007/s00439-021-02274-3

PMCID:: PMC9245547

Article PDF–2.9M

Select item 916288219.

Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A

Anne Slavotinek, Mathilde Lefebvre, Anne-Claire Brehin, Christel Thauvin, Sophie Patrier, Teresa N. Sparks, Mary Norton, Jingwei Yu, Eric Huang

Eur J Med Genet. Author manuscript; available in PMC 2023 Feb 1.

Published in final edited form as: Eur J Med Genet. 2022 Feb; 65(2): 104407. Published online 2021 Dec 20. doi: 10.1016/j.ejmg.2021.104407

PMCID:: PMC9162882

Article PDF–778K

Select item 903467820.

Clinical observation and genetic analysis of a SYNS1 family caused by novel NOG gene mutation

Zhao Zhang, Yu Lu, Jing‐Yuan Cao, Li Wang, Lin‐Ke Li, Chao Wang, Xuan Ye, Yi‐Ming Ji, Lin‐Yi Tu, Yi Sun

Mol Genet Genomic Med. 2022 May; 10(5): e1933. Published online 2022 Mar 25. doi: 10.1002/mgg3.1933

PMCID:: PMC9034678

Article PDF–2.3M

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