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Select item 95289651.

PHIP variants associated with Chung–Jansen syndrome disrupt replication fork stability and genome integrity

Neysha Tirado-Class, Caitlin Hathaway, Wendy K. Chung, Huzefa Dungrawala

Cold Spring Harb Mol Case Stud. 2022 Aug; 8(5): a006212. doi: 10.1101/mcs.a006212

PMCID:: PMC9528965

Abstract Article PDF–1.9M

Select item 98861392.

PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals

Antje Kampmeier, Elsa Leitão, Ilaria Parenti, Jasmin Beygo, Christel Depienne, Nuria C Bramswig, Tzung-Chien Hsieh, Alexandra Afenjar, Stefanie Beck-Wödl, Ute Grasshoff, Tobias B Haack, Emilia K Bijlsma, Claudia Ruivenkamp, Eva Lausberg, Miriam Elbracht, Maria K Haanpää, Hannele Koillinen, Uwe Heinrich, Imma Rost, Rami Abou Jamra, Denny Popp, Margarete Koch-Hogrebe, Kevin Rostasy, Vanesa López-González, María José Sanchez-Soler, Catarina Macedo, Ariane Schmetz, Carmen Steinborn, Sabine Weidensee, Hellen Lesmann, Felix Marbach, Pilar Caro, Christian P. Schaaf, Peter Krawitz, Dagmar Wieczorek, Frank J Kaiser, Alma Kuechler

Front Cell Dev Biol. 2022; 10: 1020609. Published online 2023 Jan 16. doi: 10.3389/fcell.2022.1020609

PMCID:: PMC9886139

Abstract Article PDF–2.7M

Select item 86537893.

A trivalent nucleosome interaction by PHIP/BRWD2 is disrupted in neurodevelopmental disorders and cancer

Marc A.J. Morgan, Irina K. Popova, Anup Vaidya, Jonathan M. Burg, Matthew R. Marunde, Emily J. Rendleman, Zachary J. Dumar, Rachel Watson, Matthew J. Meiners, Sarah A. Howard, Natalia Khalatyan, Robert M. Vaughan, Scott B. Rothbart, Michael-C. Keogh, Ali Shilatifard

Genes Dev. 2021 Dec 1; 35(23-24): 1642–1656. doi: 10.1101/gad.348766.121

PMCID:: PMC8653789

Abstract Article PDF–4.3M

Select item 113285764.

Pathogenic PHIP Variants are Variably Associated With CAKUT

Jonathan de Fallois, Tobias Sieckmann, Ria Schönauer, Friederike Petzold, Johannes Münch, Melissa Pauly, Georgia Vasileiou, Christin Findeisen, Antje Kampmeier, Alma Kuechler, André Reis, Eva Decker, Carsten Bergmann, Konrad Platzer, Velibor Tasic, Karin Michaela Kirschner, Shirlee Shril, Friedhelm Hildebrandt, Wendy K. Chung, Jan Halbritter

Kidney Int Rep. 2024 Aug; 9(8): 2484–2497. Published online 2024 May 27. doi: 10.1016/j.ekir.2024.05.024

PMCID:: PMC11328576

Abstract Article PDF–4.1M

Select item 111868735.

The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes

Niels Vos, Sadegheh Haghshenas, Liselot van der Laan, Perle K. M. Russel, Kathleen Rooney, Michael A. Levy, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Saskia M. Maas, Lisenka E. L. M. Vissers, Bert B. A. de Vries, Rolph Pfundt, Mariet W. Elting, Johanna M. van Hagen, Nienke E. Verbeek, Marjolijn C. J. Jongmans, Phillis Lakeman, Lynne Rumping, Danielle G. M. Bosch, Antonio Vitobello, Christel Thauvin-Robinet, Laurence Faivre, Sophie Nambot, Aurore Garde, Marjolaine Willems, David Genevieve, Gaël Nicolas, Tiffany Busa, Annick Toutain, Marion Gérard, Varoona Bizaoui, Bertrand Isidor, Giuseppe Merla, Maria Accadia, Charles E. Schwartz, Katrin Ounap, Mariëtte J. V. Hoffer, Marjan M. Nezarati, Marie-José H. van den Boogaard, Matthew L. Tedder, Curtis Rogers, Alfredo Brusco, Giovanni B. Ferrero, Marta Spodenkiewicz, Richard Sidlow, Alessandro Mussa, Slavica Trajkova, Emma McCann, Henry J. Mroczkowski, Sandra Jansen, Laura Donker-Kaat, Floor A. M. Duijkers, Kyra E. Stuurman, Marcel M. A. M. Mannens, Mariëlle Alders, Peter Henneman, Susan M. White, Bekim Sadikovic, Mieke M. van Haelst

Hum Genet. 2024; 143(6): 761–773. Published online 2024 May 24. doi: 10.1007/s00439-024-02679-w

PMCID:: PMC11186873

Abstract Article PDF–3.2M

Select item 51110116.

De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features

Emily Webster, Megan T. Cho, Nora Alexander, Sonal Desai, Sakkubai Naidu, Mir Reza Bekheirnia, Andrea Lewis, Kyle Retterer, Jane Juusola, Wendy K. Chung

Cold Spring Harb Mol Case Stud. 2016 Nov; 2(6): a001172. doi: 10.1101/mcs.a001172

PMCID:: PMC5111011

Abstract Article PDF–1.0M

Select item 66886217.

Prader-Willi syndrome and atypical submicroscopic 15q11-q13 deletions with or without imprinting defects

Maaz Hassan, Merlin G. Butler

Eur J Med Genet. Author manuscript; available in PMC 2019 Aug 9.

Published in final edited form as: Eur J Med Genet. 2016 Nov; 59(11): 584–589. Published online 2016 Sep 19. doi: 10.1016/j.ejmg.2016.09.017

PMCID:: PMC6688621

Abstract Article PDF–499K

Select item 51162888.

The phenotypic spectrum of Schaaf-Yang syndrome – 18 new affected individuals from 14 families

Michael D. Fountain, Emmelien Aten, Megan T. Cho, Jane Juusola, Magdalena A. Walkiewicz, Joseph W. Ray, Fan Xia, Yaping Yang, Brett H. Graham, Carlos A. Bacino, Lorraine Potocki, Arie van Haeringen, Claudia A.L. Ruivenkamp, Pedro Mancias, Hope Northrup, Mary K. Kukolich, Marjan M. Weiss, Conny M.A. van Ravenswaaij-Arts, Inge B. Mathijssen, Sebastien Levesque, Naomi Meeks, Jill A. Rosenfeld, Danielle Lemke, Ada Hamosh, Suzanne K. Lewis, Simone Race, Laura L. Stewart, Beverly Hay, Andrea M. Lewis, Rita L. Guerreiro, Jose T. Bras, Marcia P. Martins, Gerarda Derksen-Lubsen, Els Peeters, Connie Stumpel, Sander Stegmann, Levinus A. Bok, Gijs W.E. Santen, Christian P. Schaaf

Genet Med. Author manuscript; available in PMC 2017 Jan 11.

Published in final edited form as: Genet Med. 2017 Jan; 19(1): 45–52. Published online 2016 May 19. doi: 10.1038/gim.2016.53

Correction in:: Genet Med. 2016 Oct; 18(10): 1066.

PMCID:: PMC5116288

Abstract Article PDF–531K

Select item 51179399.

De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth

Johanna Schäfgen, Kirsten Cremer, Jessica Becker, Thomas Wieland, Alexander M Zink, Sarah Kim, Isabelle C Windheuser, Martina Kreiß, Stefan Aretz, Tim M Strom, Dagmar Wieczorek, Hartmut Engels

Eur J Hum Genet. 2016 Dec; 24(12): 1739–1745. Published online 2016 Jul 20. doi: 10.1038/ejhg.2016.90

PMCID:: PMC5117939

Abstract Article PDF–739K

Select item 519970710.

Impaired prohormone processing: a grand unified theory for features of Prader-Willi syndrome?

Joseph Polex-Wolf, Giles S.H. Yeo, Stephen O’Rahilly

J Clin Invest. 2017 Jan 3; 127(1): 98–99. Published online 2016 Dec 12. doi: 10.1172/JCI91307

PMCID:: PMC5199707

Abstract Article PDF–58K

Select item 569355911.

First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations

Imen Rejeb, Houweyda Jilani, Yasmina Elaribi, Syrine Hizem, Lamia Hila, Julia Lauer Zillahrdt, Jamel Chelly, Lamia Benjemaa

BMC Med Genet. 2017; 18: 134. Published online 2017 Nov 17. doi: 10.1186/s12881-017-0493-5

PMCID:: PMC5693559

Abstract Article PDF–1.0M

Select item 570130912.

De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism

Akemi J. Tanaka, Megan T. Cho, Rebecca Willaert, Kyle Retterer, Yuri A. Zarate, Katie Bosanko, Vikki Stefans, Kimihiko Oishi, Amy Williamson, Golder N. Wilson, Alice Basinger, Tina Barbaro-Dieber, Lucia Ortega, Susanna Sorrentino, Melissa K. Gabriel, Ilse J. Anderson, Maria J. Guillen Sacoto, Rhonda E. Schnur, Wendy K. Chung

Cold Spring Harb Mol Case Stud. 2017 Nov; 3(6): a002097. doi: 10.1101/mcs.a002097

PMCID:: PMC5701309

Abstract Article PDF–17M

Select item 583904213.

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

Sandra Jansen, Alexander Hoischen, Bradley P. Coe, Gemma L. Carvill, Hilde Van Esch, Daniëlle G. M. Bosch, Ulla A. Andersen, Carl Baker, Marijke Bauters, Raphael A. Bernier, Bregje W. van Bon, Hedi L. Claahsen-van der Grinten, Jozef Gecz, Christian Gilissen, Lucia Grillo, Anna Hackett, Tjitske Kleefstra, David Koolen, Malin Kvarnung, Martin J. Larsen, Carlo Marcelis, Fiona McKenzie, Marie-Lorraine Monin, Caroline Nava, Janneke H. Schuurs-Hoeijmakers, Rolph Pfundt, Marloes Steehouwer, Servi J. C. Stevens, Connie T. Stumpel, Fleur Vansenne, Mirella Vinci, Maartje van de Vorst, Petra de Vries, Kali Witherspoon, Joris A. Veltman, Han G. Brunner, Heather C. Mefford, Corrado Romano, Lisenka E. L. M. Vissers, Evan E. Eichler, Bert B. A. de Vries

Eur J Hum Genet. 2018 Jan; 26(1): 54–63. Published online 2017 Dec 5. doi: 10.1038/s41431-017-0039-5

PMCID:: PMC5839042

Abstract Article PDF–1.0M

Select item 608076914.

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

Anne Gregor, Lynette G. Sadleir, Reza Asadollahi, Silvia Azzarello-Burri, Agatino Battaglia, Lilian Bomme Ousager, Paranchai Boonsawat, Ange-Line Bruel, Rebecca Buchert, Eduardo Calpena, Benjamin Cogné, Bruno Dallapiccola, Felix Distelmaier, Frances Elmslie, Laurence Faivre, Tobias B. Haack, Victoria Harrison, Alex Henderson, David Hunt, Bertrand Isidor, Pascal Joset, Satoko Kumada, Augusta M.A. Lachmeijer, Melissa Lees, Sally Ann Lynch, Francisco Martinez, Naomichi Matsumoto, Carey McDougall, Heather C. Mefford, Noriko Miyake, Candace T. Myers, Sébastien Moutton, Addie Nesbitt, Antonio Novelli, Carmen Orellana, Anita Rauch, Monica Rosello, Ken Saida, Avni B. Santani, Ajoy Sarkar, Ingrid E. Scheffer, Marwan Shinawi, Katharina Steindl, Joseph D. Symonds, Elaine H. Zackai, University of Washington Center for Mendelian Genomics, DDD Study, André Reis, Heinrich Sticht, Christiane Zweier

Am J Hum Genet. 2018 Aug 2; 103(2): 305–316. Published online 2018 Jul 26. doi: 10.1016/j.ajhg.2018.07.003

PMCID:: PMC6080769

Abstract Article PDF–1.8M

Select item 658003715.

Possibility of early diagnosis in a fetus affected by Prader-Willi syndrome with maternal hetero-UPD15: A lesson to be learned

Yanling Dong, Shu Liu, Junnan Li, Jian Li, Qian Chen, Jianyun Luo, Chunlei Li, Huifan Li, Hongbo Qi, Rong Li

Mol Med Rep. 2019 Jul; 20(1): 95–102. Published online 2019 May 15. doi: 10.3892/mmr.2019.10246

PMCID:: PMC6580037

Abstract Article PDF–664K

Select item 667202616.

Clinical and genetic characterization of individuals with predicted deleterious PHIP variants

Kirsten E. Craddock, Volkan Okur, Ashley Wilson, Erica H. Gerkes, Keri Ramsey, Jennifer M. Heeley, Jane Juusola, Antonio Vitobello, Marie-Noelle Bonnet Dupeyron, Laurence Faivre, Wendy K. Chung

Cold Spring Harb Mol Case Stud. 2019 Aug; 5(4): a004200. doi: 10.1101/mcs.a004200

PMCID:: PMC6672026

Abstract Article PDF–2.7M

Select item 171608617.

Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.

C E Browne, N R Dennis, E Maher, F L Long, J C Nicholson, J Sillibourne, J C Barber

Am J Hum Genet. 1997 Dec; 61(6): 1342–1352. doi: 10.1086/301624

PMCID:: PMC1716086

Summary Page Browse PDF–1.8M

Select item 489024118.

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

Holly A.F. Stessman, Marjolein H. Willemsen, Michaela Fenckova, Osnat Penn, Alexander Hoischen, Bo Xiong, Tianyun Wang, Kendra Hoekzema, Laura Vives, Ida Vogel, Han G. Brunner, Ineke van der Burgt, Charlotte W. Ockeloen, Janneke H. Schuurs-Hoeijmakers, Jolien S. Klein Wassink-Ruiter, Connie Stumpel, Servi J.C. Stevens, Hans S. Vles, Carlo M. Marcelis, Hans van Bokhoven, Vincent Cantagrel, Laurence Colleaux, Michael Nicouleau, Stanislas Lyonnet, Raphael A. Bernier, Jennifer Gerdts, Bradley P. Coe, Corrado Romano, Antonino Alberti, Lucia Grillo, Carmela Scuderi, Magnus Nordenskjöld, Malin Kvarnung, Hui Guo, Kun Xia, Amélie Piton, Bénédicte Gerard, David Genevieve, Bruno Delobel, Daphne Lehalle, Laurence Perrin, Fabienne Prieur, Julien Thevenon, Jozef Gecz, Marie Shaw, Rolph Pfundt, Boris Keren, Aurelia Jacquette, Annette Schenck, Evan E. Eichler, Tjitske Kleefstra

Am J Hum Genet. 2016 Mar 3; 98(3): 541–552. Published online 2016 Mar 3. doi: 10.1016/j.ajhg.2016.02.004

PMCID:: PMC4890241

Abstract Article PDF–1.1M

Select item 485948419.

Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders

Anthony R. Isles, Andrés Ingason, Chelsea Lowther, James Walters, Micha Gawlick, Gerald Stöber, Elliott Rees, Joanna Martin, Rosie B. Little, Harry Potter, Lyudmila Georgieva, Lucilla Pizzo, Norio Ozaki, Branko Aleksic, Itaru Kushima, Masashi Ikeda, Nakao Iwata, Douglas F. Levinson, Pablo V. Gejman, Jianxin Shi, Alan R. Sanders, Jubao Duan, Joseph Willis, Sanjay Sisodiya, Gregory Costain, Thomas M. Werge, Franziska Degenhardt, Ina Giegling, Dan Rujescu, Stefan J. Hreidarsson, Evald Saemundsen, Joo Wook Ahn, Caroline Ogilvie, Santhosh D. Girirajan, Hreinn Stefansson, Kari Stefansson, Michael C. O’Donovan, Michael J. Owen, Anne Bassett, George Kirov

PLoS Genet. 2016 May; 12(5): e1005993. Published online 2016 May 6. doi: 10.1371/journal.pgen.1005993