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Select item 67775381.

Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases

Patrick R. Blackburn, Cinthya J. Zepeda-Mendoza, Teresa M. Kruisselbrink, Lisa A. Schimmenti, Sixto García-Miñaur, María Palomares, Julián Nevado, María A. Mori, Guylène Le Meur, Eric W. Klee, Cédric Le Caignec, Pablo Lapunzina, Bertrand Isidor, Dusica Babovic-Vuksanovic

Eur J Hum Genet. 2019 Sep; 27(9): 1379–1388. Published online 2019 May 3. doi: 10.1038/s41431-019-0423-4

PMCID:: PMC6777538

Abstract Article PDF–1.7M

Select item 56858802.

A Novel Missense Variant in the GLI3 Zinc Finger Domain in a Family with Digital Anomalies

J. Aaron Crapster, Louanne Hudgins, James K. Chen, Natalia Gomez-Ospina

Am J Med Genet A. Author manuscript; available in PMC 2018 Dec 1.

Published in final edited form as: Am J Med Genet A. 2017 Dec; 173(12): 3221–3225. Published online 2017 Sep 8. doi: 10.1002/ajmg.a.38415

PMCID:: PMC5685880

Abstract Article PDF–410K

Select item 47855463.

Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral–facial–digital anomalies

Ingrid M Wentzensen, Jennifer J Johnston, Kim Keppler-Noreuil, Karina Acrich, Karen David, Kisha D Johnson, John M Graham, Jr, Julie C Sapp, Leslie G Biesecker

Hum Genome Var. 2015; 2: 15045. Published online 2015 Nov 19. doi: 10.1038/hgv.2015.45

PMCID:: PMC4785546

Abstract Article PDF–493K

Select item 10156554.

Unknown syndrome: Noonan-like craniofacial features, digital anomalies, and premature birth.

R C Shepherd, D R Goudie, J L Tolmie

J Med Genet. 1989 Jul; 26(7): 470–472. doi: 10.1136/jmg.26.7.470

PMCID:: PMC1015655

Summary Page Browse PDF–753K

Select item 104235095.

Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder

Reza Maroofian, Stephanie Efthymiou, Mohnish Suri, Fatima Rahman, Maha S Zaki, Shazia Maqbool, Najwa Anwa, Victor L Ruiz-Pérez, Shira Yanovsky-Dagan, Orly Elpeleg, Sniya Sudhakar, Kshitij Mankad, Tamar Harel, Henry Houlden

J Med Genet. 2023 Aug; 60(8): 791–796. Published online 2022 Dec 29. doi: 10.1136/jmg-2022-108566

PMCID:: PMC10423509

Abstract Article PDF–739K

Select item 103574796.

Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans

Long Guo, Smrithi Salian, Jing-yi Xue, Nicola Rath, Justine Rousseau, Hyunyun Kim, Sophie Ehresmann, Shahida Moosa, Norio Nakagawa, Hiroshi Kuroda, Jill Clayton-Smith, Juan Wang, Zheng Wang, Siddharth Banka, Adam Jackson, Yan-min Zhang, Zhen-jie Wei, Irina Hüning, Theresa Brunet, Hirofumi Ohashi, Molly F. Thomas, Caleb Bupp, Noriko Miyake, Naomichi Matsumoto, Roberto Mendoza-Londono, Gregory Costain, Gabriele Hahn, Nataliya Di Donato, Gökhan Yigit, Takahiro Yamada, Gen Nishimura, K Mark Ansel, Bernd Wollnik, Martin Hrabě de Angelis, André Mégarbané, Jill A. Rosenfeld, Vigo Heissmeyer, Shiro Ikegawa, Philippe M. Campeau

Am J Hum Genet. 2023 Jul 6; 110(7): 1068–1085. Published online 2023 Jun 22. doi: 10.1016/j.ajhg.2023.06.001

PMCID:: PMC10357479

Abstract Article PDF–6.4M

Select item 83264397.

New insights into hallux valgus by whole exome sequencing study

Jun Jia, Junyi Li, Huiqi Qu, Mengyu Li, Sipeng Zhang, Jun Hao, Xinyi Gao, Xinyi Meng, Yan Sun, Hakon Hakonarson, Xiantie Zeng, Qianghua Xia, Jin Li

Exp Biol Med (Maywood) 2021 Jul; 246(14): 1607–1616. Published online 2021 Apr 29. doi: 10.1177/15353702211008641

PMCID:: PMC8326439

Abstract Article PDF–641K

Select item 80930148.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

Laura Castilla-Vallmanya, Kaja K. Selmer, Clémantine Dimartino, Raquel Rabionet, Bernardo Blanco-Sánchez, Sandra Yang, Margot R. F. Reijnders, Antonie J. van Essen, Myriam Oufadem, Magnus D. Vigeland, Barbro Stadheim, Gunnar Houge, Helen Cox, Helen Kingston, Jill Clayton-Smith, Jeffrey W. Innis, Maria Iascone, Anna Cereda, Sara Gabbiadini, Wendy K. Chung, Victoria Sanders, Joel Charrow, Emily Bryant, John Millichap, Antonio Vitobello, Christel Thauvin, Frederic Tran Mau-Them, Laurence Faivre, Gaetan Lesca, Audrey Labalme, Christelle Rougeot, Nicolas Chatron, Damien Sanlaville, Katherine M. Christensen, Amelia Kirby, Raymond Lewandowski, Rachel Gannaway, Maha Aly, Anna Lehman, Lorne Clarke, Luitgard Graul-Neumann, Christiane Zweier, Davor Lessel, Bernarda Lozic, Ingvild Aukrust, Ryan Peretz, Robert Stratton, Thomas Smol, Anne Dieux-Coëslier, Joanna Meira, Elizabeth Wohler, Nara Sobreira, Erin M. Beaver, Jennifer Heeley, Lauren C. Briere, Frances A. High, David A. Sweetser, Melissa A. Walker, Catherine E. Keegan, Parul Jayakar, Marwan Shinawi, Wilhelmina S. Kerstjens-Frederikse, Dawn L. Earl, Victoria M. Siu, Emma Reesor, Tony Yao, Robert A. Hegele, Olena M. Vaske, Shannon Rego, Undiagnosed Diseases Network, Care4Rare Canada Consortium, Kevin A. Shapiro, Brian Wong, Michael J. Gambello, Marie McDonald, Danielle Karlowicz, Roberto Colombo, Alessandro Serretti, Lynn Pais, Anne O’Donnell-Luria, Alison Wray, Simon Sadedin, Belinda Chong, Tiong Y. Tan, John Christodoulou, Susan M. White, Anne Slavotinek, Deborah Barbouth, Dayna Morel Swols, Mélanie Parisot, Christine Bole-Feysot, Patrick Nitschké, Véronique Pingault, Arnold Munnich, Megan T. Cho, Valérie Cormier-Daire, Susanna Balcells, Stanislas Lyonnet, Daniel Grinberg, Jeanne Amiel, Roser Urreizti, Christopher T. Gordon

Genet Med. Author manuscript; available in PMC 2021 May 3.

Published in final edited form as: Genet Med. 2020 Jul; 22(7): 1215–1226. Published online 2020 May 7. doi: 10.1038/s41436-020-0792-7

PMCID:: PMC8093014

Abstract Article PDF–1.0M

Select item 80593739.

A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome

Susan M. White, Elizabeth Bhoj, Christoffer Nellåker, Augusta M.A. Lachmeijer, Aren E. Marshall, Kym M. Boycott, Dong Li, Wendy Smith, Taila Hartley, Arran McBride, Michelle E. Ernst, Alison S. May, Dagmar Wieczorek, Rami Abou Jamra, Margarete Koch-Hogrebe, Katrin Õunap, Sander Pajusalu, K.L.I. van Gassen, Simon Sadedin, Sara Ellingwood, Tiong Yang Tan, John Christodoulou, Jaime Barea, Paul J. Lockhart, Care4Rare Canada Consortium, Marjan M. Nezarati, Kristin D. Kernohan

Am J Hum Genet. 2021 Apr 1; 108(4): 749–756. Published online 2021 Mar 19. doi: 10.1016/j.ajhg.2021.03.007

PMCID:: PMC8059373

Abstract Article PDF–953K

Select item 754954810.

Lacrimo‐auriculo‐dento‐digital syndrome: A novel mutation in a Korean family and review of literature

Young Hye Ryu, Jong Kyun Chae, Jung‐Wook Kim, Soyoung Lee

Mol Genet Genomic Med. 2020 Oct; 8(10): e1412. Published online 2020 Jul 26. doi: 10.1002/mgg3.1412

PMCID:: PMC7549548

Abstract Article PDF–833K

Select item 721225911.

Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities

Alison M. Muir, Jennifer L. Cohen, Sarah E. Sheppard, Pavithran Guttipatti, Tsz Y. Lo, Natalie Weed, Dan Doherty, Danielle DeMarzo, Christina R. Fagerberg, Lars Kjærsgaard, Martin J. Larsen, Patrick Rump, Katharina Löhner, Yoel Hirsch, David A. Zeevi, Elaine H. Zackai, Elizabeth Bhoj, Yuanquan Song, Heather C. Mefford

Am J Hum Genet. 2020 May 7; 106(5): 623–631. Published online 2020 Apr 9. doi: 10.1016/j.ajhg.2020.03.009

PMCID:: PMC7212259

Abstract Article PDF–1.2M

Select item 694760512.

Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome

Lucia Micale, Vito Guarnieri, Bartolomeo Augello, Orazio Palumbo, Emanuele Agolini, Valentina Maria Sofia, Tommaso Mazza, Antonio Novelli, Massimo Carella, Marco Castori

Genes (Basel) 2019 Dec; 10(12): 967. Published online 2019 Nov 25. doi: 10.3390/genes10120967

PMCID:: PMC6947605

Abstract Article PDF–1.1M

Select item 677208913.

Increased Sylvian fissure angle as early sonographic sign of malformation of cortical development

R. K. Pooh, M. Machida, T. Nakamura, K. Uenishi, H. Chiyo, K. Itoh, J. Yoshimatsu, H. Ueda, K. Ogo, P. Chaemsaithong, L. C. Poon

Ultrasound Obstet Gynecol. 2019 Aug; 54(2): 199–206. Published online 2019 Jul 8. doi: 10.1002/uog.20171

PMCID:: PMC6772089

Abstract Article PDF–23M

Select item 611726414.

A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication

Amina Al-Yassin, Alistair D. Calder, Mike Harrison, Tracy Lester, Helen Lord, Michael Oldridge, Sophie Watkins, Richard Keen, Emma L. Wakeling

Eur J Hum Genet. 2018 Sep; 26(9): 1288–1293. Published online 2018 Jun 11. doi: 10.1038/s41431-018-0166-7

PMCID:: PMC6117264

Abstract Article PDF–4.7M

Select item 603537215.

De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features

Mari J. Tokita, Chun-An Chen, David Chitayat, Ellen Macnamara, Jill A. Rosenfeld, Neil Hanchard, Andrea M. Lewis, Chester W. Brown, Ronit Marom, Yunru Shao, Danica Novacic, Lynne Wolfe, Colleen Wahl, Cynthia J. Tifft, Camilo Toro, Jonathan A. Bernstein, Caitlin L. Hale, Julia Silver, Louanne Hudgins, Amitha Ananth, Andrea Hanson-Kahn, Shirley Shuster, Undiagnosed Diseases Network, Pilar L. Magoulas, Vipulkumar N. Patel, Wenmiao Zhu, Stella M. Chen, Yanjun Jiang, Pengfei Liu, Christine M. Eng, Dominyka Batkovskyte, Alberto di Ronza, Marco Sardiello, Brendan H. Lee, Christian P. Schaaf, Yaping Yang, Xia Wang

Am J Hum Genet. 2018 Jul 5; 103(1): 154–162. Published online 2018 Jun 28. doi: 10.1016/j.ajhg.2018.06.005

PMCID:: PMC6035372

Abstract Article PDF–1.3M

Select item 511791216.

Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome)

Glen R Monroe, Isabelle FPM Kappen, Marijn F Stokman, Paulien A Terhal, Marie-José H van den Boogaard, Sanne MC Savelberg, Lars T van der Veken, Robert JJ van Es, Susanne M Lens, Rutger C Hengeveld, Marijn A Creton, Nard G Janssen, Aebele B Mink van der Molen, Michelle B Ebbeling, Rachel H Giles, Nine V Knoers, Gijs van Haaften

Eur J Hum Genet. 2016 Dec; 24(12): 1752–1760. Published online 2016 Aug 17. doi: 10.1038/ejhg.2016.103

PMCID:: PMC5117912

Abstract Article PDF–1.7M

Select item 503388517.

Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis

Hani Bagheri, Chansonette Badduke, Ying Qiao, Rita Colnaghi, Iga Abramowicz, Diana Alcantara, Christopher Dunham, Jiadi Wen, Robert S. Wildin, Malgorzata J.M. Nowaczyk, Jennifer Eichmeyer, Anna Lehman, Bruno Maranda, Sally Martell, Xianghong Shan, Suzanne M.E. Lewis, Mark O’Driscoll, Cheryl Y. Gregory-Evans, Evica Rajcan-Separovic

JCI Insight. 2016 Mar 17; 1(3): e85461. Published online 2016 Mar 17. doi: 10.1172/jci.insight.85461

PMCID:: PMC5033885

Abstract Article PDF–4.8M

Select item 386540218.

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

Sureni V Mullegama, Jill A Rosenfeld, Carmen Orellana, Bregje W M van Bon, Sara Halbach, Elena A Repnikova, Lauren Brick, Chumei Li, Lucie Dupuis, Monica Rosello, Swaroop Aradhya, D James Stavropoulos, Kandamurugu Manickam, Elyse Mitchell, Jennelle C Hodge, Michael E Talkowski, James F Gusella, Kory Keller, Jonathan Zonana, Stuart Schwartz, Robert E Pyatt, Darrel J Waggoner, Lisa G Shaffer, Angela E Lin, Bert B A de Vries, Roberto Mendoza-Londono, Sarah H Elsea

Eur J Hum Genet. 2014 Jan; 22(1): 57–63. Published online 2013 May 1. doi: 10.1038/ejhg.2013.67

PMCID:: PMC3865402

Abstract Article PDF–843K

Select item 365202519.

The Fibroblast Growth Factor Receptor 2 p.Ala172Phe Mutation in Pfeiffer Syndrome—History Repeating Itself

Sally Jay, Akira Wiberg, Marc Swan, Tracy Lester, Louise J Williams, Indira B Taylor, David Johnson, Andrew OM Wilkie

Am J Med Genet A. 2013 May; 161(5): 1158–1163. Published online 2013 Mar 26. doi: 10.1002/ajmg.a.35842

PMCID:: PMC3652025

Abstract Article PDF–4.3M

Select item 364464120.

Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase

Philippe M. Campeau, Guy M. Lenk, James T. Lu, Yangjin Bae, Lindsay Burrage, Peter Turnpenny, Jorge Román Corona-Rivera, Lucia Morandi, Marina Mora, Heiko Reutter, Anneke T. Vulto-van Silfhout, Laurence Faivre, Eric Haan, Richard A. Gibbs, Miriam H. Meisler, Brendan H. Lee

Am J Hum Genet. 2013 May 2; 92(5): 781–791. doi: 10.1016/j.ajhg.2013.03.020

PMCID:: PMC3644641

Abstract Article PDF–1.3M

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