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1. Further delineation of the SCAF4-associated neurodevelopmental disorder

Author

Schmid, Cosima M., Gregor, Anne, Ruiz, Anna, Manso Bazús, Carmen, Herman, Isabella, Ammouri, Farah, Kotzaeridou, Urania, McNiven, Vanda, Dupuis, Lucie, Steindl, Katharina, Begemann, Anaïs, Rauch, Anita, Suter, Aude-Annick, Isidor, Bertrand, Mercier, Sandra, Nizon, Mathilde, Cogné, Benjamin, Deb, Wallid, Besnard, Thomas, Haack, Tobias B., Falb, Ruth J., Müller, Amelie J., Linden, Tobias, Haldeman-Englert, Chad R., Ockeloen, Charlotte W., Mattioli, Francesca, Reymond, Alexandre, Ibrahim, Nazia, Naz, Shagufta, Lacaze, Elodie, Bassetti, Jennifer A., Hoefele, Julia, Brunet, Theresa, Riedhammer, Korbinian M., Elloumi, Houda Z., Person, Richard, Zou, Fanggeng, Kahle, Juliette J., Cremer, Kirsten, Schmidt, Axel, Delrue, Marie-Ange, Almeida, Pedro M., Ramos, Fabiana, Srivastava, Siddharth, Quinlan, Aisling, Robertson, Stephen, Manka, Eva, Kuechler, Alma, Spranger, Stephanie, Nowaczyk, Malgorzata J. M., Elshafie, Reem M., Alsharhan, Hind, Hillman, Paul R., Dunnington, Leslie A., Braakman, Hilde M. H., McKee, Shane, Moresco, Angelica, Ignat, Andrea-Diana, Newbury-Ecob, Ruth, Banneau, Guillaume, Patat, Olivier, Kuerbitz, Jeffrey, Rzucidlo, Susan, Sell, Susan S., Gordon, Patricia, Schuhmann, Sarah, Reis, André, Halleb, Yosra, Stoeva, Radka, Keren, Boris, Al Masseri, Zainab, Tümer, Zeynep, Hammer-Hansen, Sophia, Krüger Sølyst, Sofus, Steigerwald, Connolly G., Abreu, Nicolas J., Faust, Helene, Müller-Nedebock, Amica, Tran Mau-Them, Frédéric, Sticht, Heinrich, and Zweier, Christiane

Published
2024
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4. Nosology of genetic skeletal disorders: 2023 revision.

Author

Unger, Sheila, Ferreira, Carlos, Mortier, Geert, Ali, Houda, Bertola, Débora, Calder, Alistair, Cohn, Daniel, Cormier-Daire, Valerie, Girisha, Katta, Hall, Christine, Makitie, Outi, Mundlos, Stefan, Nishimura, Gen, Robertson, Stephen, Savarirayan, Ravi, Sillence, David, Simon, Marleen, Sutton, V, Warman, Matthew, Superti-Furga, Andrea, and Krakow, Deborah

Abstract

The Nosology of genetic skeletal disorders has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in molecular delineation of new disorders thanks to advances in DNA sequencing technology. The most significant change as compared to previous versions is the adoption of the dyadic naming system, systematically associating a phenotypic entity with the gene it arises from. We consider this a significant step forward as dyadic naming is more informative and less prone to errors than the traditional use of list numberings and eponyms. Despite the adoption of dyadic naming, efforts have been made to maintain strong ties to the MIM catalog and its historical data. As with the previous versions, the list of disorders and genes in the Nosology may be useful in considering the differential diagnosis in the clinic, directing bioinformatic analysis of next-generation sequencing results, and providing a basis for novel advances in biology and medicine.

Published
2023

6. Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles

Author

Angius, Andrea, Baker, Janice A., Bedoukian, Emma, Bhambhani, Vikas, Bodamer, Olaf, O’Brien, Alan, Clayton-Smith, Jill, Crisponi, Laura, Cueto González, Anna María, the DDD study, Devriendt, Koenraad, Garrido, Elena Dominguez, Ehmke, Nadja, van Eerde, Albertien, van den Elzen, Annette P.M., Faivre, Laurence, Fisher, Laura, Flores-Daboub, Josue A., Foster, Alison, Friedman, Jennifer, Gabau, Elisabeth, Galazzi, Elena, García-Miñaúr, Sixto, Garavelli, Livia, Gardeitchik, Thatjana, Gerkes, Erica H., van Gils, Julien, Giltay, Jacques C., Garcia, Aixa Gonzalez, Heimdal, Ketil Riddervold, Horn, Denise, Houge, Gunnar, Hufnagel, Sophia B., Ilencikova, Denisa, Julia, Sophie, Kant, Sarina G., Kinning, Esther, Klee, Eric W., Kois, Chelsea, Kovačević, Maja, Lachmeijer, A.M.A. (Guus), Lanpher, Brendan, Lebrun, Marine, Leon, Eyby, Lichty, Angie Ward, Lin, Ruth, Llano-Rivas, Isabel, Lynch, Sally Ann, Maas, Saskia M., Maitz, Silvia B., McKee, Shane, Melis, Daniela, Merati, Elisabetta, Merla, Giuseppe, Newbury-Ecob, Ruth, Nizon, Mathilde, Park, Soo-Mi, Patterson, Jennifer, Petit, Florence, Peeters, Hilde, Persani, Luca, Persico, Ivana, Pes, Valentina, Pollazzon, Marzia, Potjer, Thomas, Potocki, Lorraine, Pottinger, Carrie, Prasad, Chitra, Prijoles, Eloise J., Ragge, Nicola K., Rake, Jan Peter, van Ravenswaaij-Arts, Conny M.A., Rea, Gillian, Ruivenkamp, Claudia, Rutz, Audrey, Saitta, Sulagna C., Russo, Rossana Sanchez, Santen, Gijs W.E., Schaefer, Elise, Shashi, Vandana, Schultz-Rogers, Laura, Sluga, Andrea, Sotgiu, Stefano, Steichen-Gersdorf, Elisabeth, Sullivan, Jennifer A., Sun, Yu, Suri, Mohnish, Tartaglia, Marco, Tedder, Matt, Terhal, Paulien, Tully, Ian, Verbeek, Nienke, Wenzel, Maren, White, Susan M., Xiao, Bing, Haghshenas, Sadegheh, Bout, Hidde J., Schijns, Josephine M., Levy, Michael A., Kerkhof, Jennifer, Bhai, Pratibha, McConkey, Haley, Jenkins, Zandra A., Williams, Ella M., Halliday, Benjamin J., Huisman, Sylvia A., Lauffer, Peter, de Waard, Vivian, Witteveen, Laura, Banka, Siddharth, Brady, Angela F., Hurst, Anna C.E., Kaiser, Frank J., Lacombe, Didier, Martinez-Monseny, Antonio F., Fergelot, Patricia, Monteiro, Fabíola P., Parenti, Ilaria, Santos-Simarro, Fernando, Simpson, Brittany N., Alders, Mariëlle, Robertson, Stephen P., Sadikovic, Bekim, and Menke, Leonie A.

Published
2024
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7. Intervertebral disc degeneration is rescued by TGFβ/BMP signaling modulation in an ex vivo filamin B mouse model

Author

Zieba, Jennifer, Forlenza, Kimberly N, Heard, Kelly, Martin, Jorge H, Bosakova, Michaela, Cohn, Daniel H, Robertson, Stephen P, Krejci, Pavel, and Krakow, Deborah

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Back Pain, Rare Diseases, Neurosciences, Pain Research, 2.1 Biological and endogenous factors, Musculoskeletal, Clinical sciences
Abstract

Spondylocarpotarsal syndrome (SCT) is a rare musculoskeletal disorder characterized by short stature and vertebral, carpal, and tarsal fusions resulting from biallelic nonsense mutations in the gene encoding filamin B (FLNB). Utilizing a FLNB knockout mouse, we showed that the vertebral fusions in SCT evolved from intervertebral disc (IVD) degeneration and ossification of the annulus fibrosus (AF), eventually leading to full trabecular bone formation. This resulted from alterations in the TGFβ/BMP signaling pathway that included increased canonical TGFβ and noncanonical BMP signaling. In this study, the role of FLNB in the TGFβ/BMP pathway was elucidated using in vitro, in vivo, and ex vivo treatment methodologies. The data demonstrated that FLNB interacts with inhibitory Smads 6 and 7 (i-Smads) to regulate TGFβ/BMP signaling and that loss of FLNB produces increased TGFβ receptor activity and decreased Smad 1 ubiquitination. Through the use of small molecule inhibitors in an ex vivo spine model, TGFβ/BMP signaling was modulated to design a targeted treatment for SCT and disc degeneration. Inhibition of canonical and noncanonical TGFβ/BMP pathway activity restored Flnb-/- IVD morphology. These most effective improvements resulted from specific inhibition of TGFβ and p38 signaling activation. FLNB acts as a bridge for TGFβ/BMP signaling crosstalk through i-Smads and is key for the critical balance in TGFβ/BMP signaling that maintains the IVD. These findings further our understanding of IVD biology and reveal new molecular targets for disc degeneration as well as congenital vertebral fusion disorders.

Published
2022

8. Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase

Author

Jones, Amy G., Aquilino, Matilde, Tinker, Rory J., Duncan, Laura, Jenkins, Zandra, Carvill, Gemma L., DeWard, Stephanie J., Grange, Dorothy K., Hajianpour, MJ, Halliday, Benjamin J., Holder-Espinasse, Muriel, Horvath, Judit, Maitz, Silvia, Nigro, Vincenzo, Morleo, Manuela, Paul, Victoria, Spencer, Careni, Esterhuizen, Alina I., Polster, Tilman, Spano, Alice, Gómez-Lozano, Inés, Kumar, Abhishek, Poke, Gemma, Phillips, John A., III, Underhill, Hunter R., Gimenez, Gregory, Namba, Takashi, and Robertson, Stephen P.

Published
2024
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10. The hinge‐1 domain of Flna is not necessary for diverse physiological functions in mice.

Author

Wade, Emma M., Goodin, Elizabeth A., Morgan, Tim, Pereira, Stephana, Woolley, Adele G., Jenkins, Zandra A., Daniel, Philip B., and Robertson, Stephen P.

Subjects
CYTOSKELETAL proteins, CARRIER proteins, SKELETAL dysplasia, PROTEIN structure, CELL communication
Abstract

Introduction: The filamins are cytoskeletal binding proteins that dynamically crosslink actin into orthogonal networks or bundle it into stress fibres. The domain structure of filamin proteins is very well characterised, with an N‐terminal actin‐binding region, followed by 24 immunoglobulin‐like repeat units. The repeat domains are separated into distinct segments by two regions of low‐complexity known as hinge‐1 and hinge‐2. The role of hinge‐1 especially has been proposed to be essential for protein function as it provides flexibility to the otherwise rigid protein, and is a target for cleavage by calpain. Hinge‐1 protects cells from otherwise destructive forces, and the products of calpain cleavage are involved in critical cellular signalling processes, such as survival during hypoxia. Pathogenic variants in FLNA encoding Filamin A, including those that remove the hinge‐1 domain, cause a wide range of survivable developmental disorders. In contrast, complete loss of function of this gene is embryonic lethal in human and mouse. Methods and Results: In this study, we show that removing filamin A hinge‐1 from mouse (FlnaΔH1), while preserving its expression level leads to no obvious developmental phenotype. Detailed characterisation of the skeletons of FlnaΔH1 mice showed no skeletal phenotype reminiscent of that found in the FLNA‐causing skeletal dysplasia. Furthermore, nuclear functions of FLNA are maintained with loss of Filamin A hinge‐1. Conclusion: We conclude that hinge‐1 is dispensable for filamin A protein function during development over the murine lifespan. [ABSTRACT FROM AUTHOR]

Published
2024
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11. Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711

Author

Wang, Jiyong, Foroutan, Aidin, Richardson, Ellen, Skinner, Steven A., Reilly, Jack, Kerkhof, Jennifer, Curry, Cynthia J., Tarpey, Patrick S., Robertson, Stephen P., Maystadt, Isabelle, Keren, Boris, Dixon, Joanne W., Skinner, Cindy, Stapleton, Rachel, Ruaud, Lyse, Gumus, Evren, Lakeman, Phillis, Alders, Mariëlle, Tedder, Matthew L., Schwartz, Charles E., Friez, Michael J., Sadikovic, Bekim, and Stevenson, Roger E.

Published
2022
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13. TAK1 operates at the primary cilium in non-canonical TGFB/BMP signaling to control heart development

Author

Doganli, Canan, primary, Baird, Daniel A., additional, Ali, Yeasmeen, additional, Thomsen, Oskar Kaaber, additional, Audain, Enrique, additional, Jessen, Line, additional, Truelsen, Pauline Munch, additional, Mogensen, Johanne Bay, additional, Holm, Maria Schrøder, additional, Apolínova, Kateřina, additional, Buttò, Lorenzo, additional, Diamanti, Maria, additional, Fialová, Jindřiška Leischner, additional, Wade, Emma M., additional, Robertson, Stephen P., additional, Pedersen, Lotte B, additional, Argiro, Laurent B, additional, Lescroart, Fabienne, additional, Hitz, Marc-Phillip, additional, Christensen, Soren Tvorup, additional, and Larsen, Lars Allan, additional

Published
2024
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14. WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features

Author

Skraban, Cara M, Wells, Constance F, Markose, Preetha, Cho, Megan T, Nesbitt, Addie I, Au, PY Billie, Begtrup, Amber, Bernat, John A, Bird, Lynne M, Cao, Kajia, de Brouwer, Arjan PM, Denenberg, Elizabeth H, Douglas, Ganka, Gibson, Kristin M, Grand, Katheryn, Goldenberg, Alice, Innes, A Micheil, Juusola, Jane, Kempers, Marlies, Kinning, Esther, Markie, David M, Owens, Martina M, Payne, Katelyn, Person, Richard, Pfundt, Rolph, Stocco, Amber, Turner, Claire LS, Verbeek, Nienke E, Walsh, Laurence E, Warner, Taylor C, Wheeler, Patricia G, Wieczorek, Dagmar, Wilkens, Alisha B, Zonneveld-Huijssoon, Evelien, Study, Deciphering Developmental Disorders, Kleefstra, Tjitske, Robertson, Stephen P, Santani, Avni, van Gassen, Koen LI, and Deardorff, Matthew A

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Genetics, Dental/Oral and Craniofacial Disease, Rare Diseases, Neurodegenerative, Epilepsy, Clinical Research, Pediatric, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Adaptor Proteins, Signal Transducing, Amino Acid Sequence, Base Sequence, Child, Preschool, Chromosome Deletion, Facies, Female, Gait, Growth and Development, Haploinsufficiency, Humans, Intellectual Disability, Male, Mutation, Proteins, RNA Stability, Seizures, Syndrome, Deciphering Developmental Disorders Study, WD-40, WDR protein, WDR26, intellectual disability, seizure, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

We report 15 individuals with de novo pathogenic variants in WDR26. Eleven of the individuals carry loss-of-function mutations, and four harbor missense substitutions. These 15 individuals comprise ten females and five males, and all have intellectual disability with delayed speech, a history of febrile and/or non-febrile seizures, and a wide-based, spastic, and/or stiff-legged gait. These subjects share a set of common facial features that include a prominent maxilla and upper lip that readily reveal the upper gingiva, widely spaced teeth, and a broad nasal tip. Together, these features comprise a recognizable facial phenotype. We compared these features with those of chromosome 1q41q42 microdeletion syndrome, which typically contains WDR26, and noted that clinical features are consistent between the two subsets, suggesting that haploinsufficiency of WDR26 contributes to the pathology of 1q41q42 microdeletion syndrome. Consistent with this, WDR26 loss-of-function single-nucleotide mutations identified in these subjects lead to nonsense-mediated decay with subsequent reduction of RNA expression and protein levels. We derived a structural model of WDR26 and note that missense variants identified in these individuals localize to highly conserved residues of this WD-40-repeat-containing protein. Given that WDR26 mutations have been identified in ∼1 in 2,000 of subjects in our clinical cohorts and that WDR26 might be poorly annotated in exome variant-interpretation pipelines, we would anticipate that this disorder could be more common than currently appreciated.

Published
2017

15. Pathogenic FLNA variants affecting the hinge region of filamin A are associated with male survival.

Author

Wade, Emma M., Morgan, Tim, Gimenez, Gregory, Jenkins, Zandra A., Titheradge, Hannah, O'Donnell, Marie, Skidmore, David, Suri, Mohnish, and Robertson, Stephen P.

Abstract

Pathogenic variants in FLNA cause a diversity of X‐linked developmental disorders associated with either preserved or diminished levels of filamin A protein and are conceptualized dichotomously as relating to underlying gain‐ or loss‐of‐function pathogenic mechanisms. Hemizygosity for germline deletions or truncating variants in FLNA is generally considered to result in embryonic lethality. Structurally, filamin A is composed of an N‐terminal actin‐binding region, followed by 24 immunoglobulin‐like repeat units. The repeat domains are separated into distinct segments by two regions of low‐complexity known as hinge‐1 and hinge‐2. Hinge‐1 is proposed to confer flexibility to the otherwise rigid protein and is a target for cleavage by calpain with the resultant filamin fragments mediating crucial cellular signaling processes. Here, three families with pathogenic variants in FLNA that impair the function of hinge‐1 in males are described, leading to distinct clinical phenotypes. One large in‐frame deletion that includes the hinge leads to frontometaphyseal dysplasia in affected males and females, while two germline truncating variants located within the exon encoding hinge 1 result in phenotypes in males that are explained by exon skipping and under‐expression of a transcript that deletes hinge‐1 from the resultant protein. These three variants affecting hinge‐1 indicate that this domain does not mediate cellular functions that, when deficientresult in embryonic lethality in males and that germline truncating variants in this region of FLNA can result in viable phenotypes in males. [ABSTRACT FROM AUTHOR]

Published
2024
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17. Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles

Author

Haghshenas, Sadegheh, primary, Bout, Hidde J., additional, Schijns, Josephine M., additional, Levy, Michael A., additional, Kerkhof, Jennifer, additional, Bhai, Pratibha, additional, McConkey, Haley, additional, Jenkins, Zandra A., additional, Williams, Ella M., additional, Halliday, Benjamin J., additional, Huisman, Sylvia A., additional, Lauffer, Peter, additional, de Waard, Vivian, additional, Witteveen, Laura, additional, Banka, Siddharth, additional, Brady, Angela F., additional, Galazzi, Elena, additional, van Gils, Julien, additional, Hurst, Anna C.E., additional, Kaiser, Frank J., additional, Lacombe, Didier, additional, Martinez-Monseny, Antonio F., additional, Fergelot, Patricia, additional, Monteiro, Fabíola P., additional, Parenti, Ilaria, additional, Persani, Luca, additional, Simarro, Fernando Santos, additional, Simpson, Brittany N., additional, Alders, Mariëlle, additional, Robertson, Stephen P., additional, Sadikovic, Bekim, additional, and Menke, Leonie A., additional

Published
2024
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22. Extracellular LGALS3BP regulates neural progenitor position and relates to human cortical complexity

Author

Kyrousi, Christina, O’Neill, Adam C., Brazovskaja, Agnieska, He, Zhisong, Kielkowski, Pavel, Coquand, Laure, Di Giaimo, Rossella, D’ Andrea, Pierpaolo, Belka, Alexander, Forero Echeverry, Andrea, Mei, Davide, Lenge, Matteo, Cruceanu, Cristiana, Buchsbaum, Isabel Y., Khattak, Shahryar, Fabien, Guimiot, Binder, Elisabeth, Elmslie, Frances, Guerrini, Renzo, Baffet, Alexandre D., Sieber, Stephan A., Treutlein, Barbara, Robertson, Stephen P., and Cappello, Silvia

Published
2021
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23. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Author

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

Published
2019
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24. A Theory of Information Matching

Author

Gorla, Jagadeesh, Robertson, Stephen, Wang, Jun, and Jambor, Tamas

Subjects
Computer Science - Information Retrieval
Abstract

In this work, we propose a theory for information matching. It is motivated by the observation that retrieval is about the relevance matching between two sets of properties (features), namely, the information need representation and information item representation. However, many probabilistic retrieval models rely on fixing one representation and optimizing the other (e.g. fixing the single information need and tuning the document) but not both. Therefore, it is difficult to use the available related information on both the document and the query at the same time in calculating the probability of relevance. In this paper, we address the problem by hypothesizing the relevance as a logical relationship between the two sets of properties; the relationship is defined on two separate mappings between these properties. By using the hypothesis we develop a unified probabilistic relevance model which is capable of using all the available information. We validate the proposed theory by formulating and developing probabilistic relevance ranking functions for both ad-hoc text retrieval and collaborative filtering. Our derivation in text retrieval illustrates the use of the theory in the situation where no relevance information is available. In collaborative filtering, we show that the resulting recommender model unifies the user and item information into a relevance ranking function without applying any dimensionality reduction techniques or computing explicit similarity between two different users (or items), in contrast to the state-of-the-art recommender models.

Published
2012

25. A Unified Relevance Retrieval Model by Eliteness Hypothesis

Author

Gorla, Jagadeesh, Robertson, Stephen, and Wang, Jun

Subjects
Computer Science - Information Retrieval
Abstract

In this paper, an Eliteness Hypothesis for information retrieval is proposed, where we define two generative processes to create information items and queries. By assuming the deterministic relationships between the eliteness of terms and relevance, we obtain a new theoretical retrieval framework. The resulting ranking function is a unified one as it is capable of using available relevance information on both the document and the query, which is otherwise unachievable by existing retrieval models. Our preliminary experiment on a simple ranking function has demonstrated the potential of the approach.

Published
2011

26. Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

Author

McMillin, Margaret J, Beck, Anita E, Chong, Jessica X, Shively, Kathryn M, Buckingham, Kati J, Gildersleeve, Heidi IS, Aracena, Mariana I, Aylsworth, Arthur S, Bitoun, Pierre, Carey, John C, Clericuzio, Carol L, Crow, Yanick J, Curry, Cynthia J, Devriendt, Koenraad, Everman, David B, Fryer, Alan, Gibson, Kate, Uzielli, Maria Luisa Giovannucci, Graham, John M, Hall, Judith G, Hecht, Jacqueline T, Heidenreich, Randall A, Hurst, Jane A, Irani, Sarosh, Krapels, Ingrid PC, Leroy, Jules G, Mowat, David, Plant, Gordon T, Robertson, Stephen P, Schorry, Elizabeth K, Scott, Richard H, Seaver, Laurie H, Sherr, Elliott, Splitt, Miranda, Stewart, Helen, Stumpel, Constance, Temel, Sehime G, Weaver, David D, Whiteford, Margo, Williams, Marc S, Tabor, Holly K, Smith, Joshua D, Shendure, Jay, Nickerson, Deborah A, Genomics, University of Washington Center for Mendelian, and Bamshad, Michael J

Subjects
Rare Diseases, Human Genome, Genetics, Congenital Structural Anomalies, Pediatric, Dental/Oral and Craniofacial Disease, 2.1 Biological and endogenous factors, Aetiology, Congenital, Abnormalities, Multiple, Arachnodactyly, Arthrogryposis, Blepharophimosis, Child, Child, Preschool, Cleft Palate, Clubfoot, Connective Tissue Diseases, Contracture, Exome, Female, Hand Deformities, Congenital, Humans, Ion Channels, Male, Mutation, Ophthalmoplegia, Pedigree, Retinal Diseases, University of Washington Center for Mendelian Genomics, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Gordon syndrome (GS), or distal arthrogryposis type 3, is a rare, autosomal-dominant disorder characterized by cleft palate and congenital contractures of the hands and feet. Exome sequencing of five GS-affected families identified mutations in piezo-type mechanosensitive ion channel component 2 (PIEZO2) in each family. Sanger sequencing revealed PIEZO2 mutations in five of seven additional families studied (for a total of 10/12 [83%] individuals), and nine families had an identical c.8057G>A (p.Arg2686His) mutation. The phenotype of GS overlaps with distal arthrogryposis type 5 (DA5) and Marden-Walker syndrome (MWS). Using molecular inversion probes for targeted sequencing to screen PIEZO2, we found mutations in 24/29 (82%) DA5-affected families and one of two MWS-affected families. The presence of cleft palate was significantly associated with c.8057G>A (Fisher's exact test, adjusted p value < 0.0001). Collectively, although GS, DA5, and MWS have traditionally been considered separate disorders, our findings indicate that they are etiologically related and perhaps represent variable expressivity of the same condition.

Published
2014

27. Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q10 Deficiency in a Female Sib-Pair

Author

Jacobsen, Jessie C., Whitford, Whitney, Swan, Brendan, Taylor, Juliet, Love, Donald R., Hill, Rosamund, Molyneux, Sarah, George, Peter M., Mackay, Richard, Robertson, Stephen P., Snell, Russell G., Lehnert, Klaus, Baumgartner, Matthias, Series Editor, Patterson, Marc, Series Editor, Rahman, Shamima, Series Editor, Peters, Verena, Series Editor, Morava, Eva, Editor-in-Chief, and Zschocke, Johannes, Series Editor

Published
2018
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30. Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3

Author

Cameron-Christie, Sophia R., Wells, Constance F., Simon, Marleen, Wessels, Marja, Tang, Candy Z.N., Wei, Wenhua, Takei, Riku, Aarts-Tesselaar, Coranne, Sandaradura, Sarah, Sillence, David O., Cordier, Marie-Pierre, Veenstra-Knol, Hermine E., Cassina, Matteo, Ludwig, Kathrin, Trevisson, Eva, Bahlo, Melanie, Markie, David M., Jenkins, Zandra A., and Robertson, Stephen P.

Published
2018
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31. Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis

Author

Pisano, Tiziana, Barkovich, A James, Leventer, Richard J, Squier, Waney, Scheffer, Ingrid E, Parrini, Elena, Blaser, Susan, Marini, Carla, Robertson, Stephen, Tortorella, Gaetano, Rosenow, Felix, Thomas, Pierre, McGillivray, George, Andermann, Eva, Andermann, Frederick, Berkovic, Samuel F, Dobyns, William B, and Guerrini, Renzo

Subjects
Brain Disorders, Neurosciences, Pediatric, Clinical Research, Neurological, Adolescent, Adult, Agenesis of Corpus Callosum, Brain, Cerebellum, Child, Child, Preschool, Epilepsy, Female, Humans, Infant, Magnetic Resonance Imaging, Male, Middle Aged, Periventricular Nodular Heterotopia, Clinical Sciences, Cognitive Sciences, Neurology & Neurosurgery
Abstract

ObjectiveTo describe a homogeneous subtype of periventricular nodular heterotopia (PNH) as part of a newly defined malformation complex.MethodsObservational study including review of brain MRI and clinical findings of a cohort of 50 patients with PNH in the temporo-occipital horns and trigones, mutation analysis of the FLNA gene, and anatomopathologic study of a fetal brain.ResultsThere were 28 females and 22 males. All were sporadic with the exception of an affected mother and son. Epilepsy occurred in 62%, cerebellar signs in 56%, cognitive impairment in 56%, and autism in 12%. Seventy percent were referred within the 3rd year of life. Imaging revealed a normal cerebral cortex in 76% and abnormal cortical folding in 24%. In all patients the hippocampi were under-rotated and in 10% they merged with the heterotopia. Cerebellar dysgenesis was observed in 84% and a hypoplastic corpus callosum in 60%. There was no gender bias or uneven gender distribution of clinical and anatomic severity. No mutations of FLNA occurred in 33 individuals examined. Heterotopia in the fetal brain revealed cytoarchitectonic characteristics similar to those associated with FLNA mutations; cortical pathology was not typical of polymicrogyria. Cerebellar involvement was more severe and the hippocampi appeared simple and under-rotated.ConclusionsThis series delineates a malformation complex in which PNH in the trigones and occipito-temporal horns is associated with hippocampal, corpus callosum, and cerebellar dysgenesis. This subtype of PNH is distinct from classic PNH caused by FLNA mutations.

Published
2012

32. Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features

Author

Reversade, Bruno, Escande-Beillard, Nathalie, Dimopoulou, Aikaterini, Fischer, Björn, Chng, Serene C., Li, Yun, Shboul, Mohammad, Tham, Puay-Yoke, Kayserili, Hülya, Al-Gazali, Lihadh, Shahwan, Monzer, Brancati, Francesco, Lee, Hane, O’Connor, Brian D., Kegler, Mareen Schmidt-von, Merriman, Barry, Nelson, Stanley F., Masri, Amira, Alkazaleh, Fawaz, Guerra, Deanna, Ferrari, Paola, Nanda, Arti, Rajab, Anna, Markie, David, Gray, Mary, Nelson, John, Grix, Arthur, Sommer, Annemarie, Savarirayan, Ravi, Janecke, Andreas R., Steichen, Elisabeth, Sillence, David, Haußer, Ingrid, Budde, Birgit, Nürnberg, Gudrun, Nürnberg, Peter, Seemann, Petra, Kunkel, Désirée, Zambruno, Giovanna, Dallapiccola, Bruno, Schuelke, Markus, Robertson, Stephen, Hamamy, Hanan, Wollnik, Bernd, Van Maldergem, Lionel, Mundlos, Stefan, and Kornak, Uwe

Published
2022
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36. Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature

Author

Peluso, Francesca, primary, Caraffi, Stefano G, additional, Contrò, Gianluca, additional, Valeri, Lara, additional, Napoli, Manuela, additional, Carboni, Giorgia, additional, Seth, Alka, additional, Zuntini, Roberta, additional, Coccia, Emanuele, additional, Astrea, Guja, additional, Bisgaard, Anne-Marie, additional, Ivanovski, Ivan, additional, Maitz, Silvia, additional, Brischoux-Boucher, Elise, additional, Carter, Melissa T, additional, Dentici, Maria Lisa, additional, Devriendt, Koenraad, additional, Bellini, Melissa, additional, Digilio, Maria Cristina, additional, Doja, Asif, additional, Dyment, David A, additional, Farholt, Stense, additional, Ferreira, Carlos R, additional, Wolfe, Lynne A, additional, Gahl, William A, additional, Gnazzo, Maria, additional, Goel, Himanshu, additional, Grønborg, Sabine Weller, additional, Hammer, Trine, additional, Iughetti, Lorenzo, additional, Kleefstra, Tjitske, additional, Koolen, David A, additional, Lepri, Francesca Romana, additional, Lemire, Gabrielle, additional, Louro, Pedro, additional, McCullagh, Gary, additional, Madeo, Simona F, additional, Milone, Annarita, additional, Milone, Roberta, additional, Nielsen, Jens Erik Klint, additional, Novelli, Antonio, additional, Ockeloen, Charlotte W., additional, Pascarella, Rosario, additional, Pippucci, Tommaso, additional, Ricca, Ivana, additional, Robertson, Stephen P, additional, Sawyer, Sarah, additional, Falkenberg Smeland, Marie, additional, Stegmann, Sander, additional, Stumpel, Constanze T, additional, Goel, Amy, additional, Taylor, Juliet M, additional, Barbuti, Domenico, additional, Soresina, Annarosa, additional, Bedeschi, Maria Francesca, additional, Battini, Roberta, additional, Cavalli, Anna, additional, Fusco, Carlo, additional, Iascone, Maria, additional, Van Maldergem, Lionel, additional, Venkateswaran, Sunita, additional, Zuffardi, Orsetta, additional, Vergano, Samantha, additional, Garavelli, Livia, additional, and Bayat, Allan, additional

Published
2023
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39. Mitochondrial disease in New Zealand: a nationwide prevalence study.

Author

Missen, Sarah, Wilson, Callum, Potter, Howard, Vincent, Andrea L., Murphy, Rinki, Roxburgh, Richard, Rodrigues, Miriam, Poke, Gemma, Robertson, Stephen P., Thorburn, David R., and Glamuzina, Emma

Subjects
GENOMICS, DESCRIPTIVE statistics, CELLULAR signal transduction, MITOCHONDRIAL pathology, GENETIC mutation, DATA analysis software, CONFIDENCE intervals, HEALTH education, MOLECULAR diagnosis, PHENOTYPES
Abstract

Background: The complexities of mitochondrial disease make epidemiological studies challenging, yet this information is important in understanding the healthcare burden and addressing service and educational needs. Existing studies are limited to quaternary centres or focus on a single genotype or phenotype and estimate disease prevalence at 12.5 per 100 000. New Zealand's (NZ) size and partially integrated national healthcare system make it amenable to a nationwide prevalence study. Aim: To estimate the prevalence of molecularly confirmed and suspected mitochondrial disease on 31 December 2015 in NZ. Methods: Cases were identified from subspecialists and laboratory databases and through interrogation of the Ministry of Health National Minimum Dataset with a focus on presentations between 2000 and 2015. Patient records were reviewed, and those with a diagnosis of 'mitochondrial disease' who were alive and residing in NZ on the prevalence date were included. These were divided into molecularly confirmed and clinically suspected cases. Official NZ estimated resident population data were used to calculate prevalence. Results: Seven hundred twenty‐three unique national health index numbers were identified. Five hundred five were excluded. The minimum combined prevalence for mitochondrial disease was 4.7 per 100 000 (95% confidence interval (CI): 4.1–5.4). The minimum prevalence for molecularly confirmed and suspected disease was 2.9 (95% CI 2.4–3.4) and 1.8 (95% CI 1.4–2.2) cases per 100 000 respectively. Conclusions: Within the limitations of this study, comparison to similar prevalence studies performed by specialist referral centres suggests mitochondrial disease is underdiagnosed in NZ. This highlights a need for improved education and referral pathways for mitochondrial disease in NZ. [ABSTRACT FROM AUTHOR]

Published
2024
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40. Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

Author

Heyn, Patricia, Logan, Clare V., Fluteau, Adeline, Challis, Rachel C., Auchynnikava, Tatsiana, Martin, Carol-Anne, Marsh, Joseph A., Taglini, Francesca, Kilanowski, Fiona, Parry, David A., Cormier-Daire, Valerie, Fong, Chin-To, Gibson, Kate, Hwa, Vivian, Ibáñez, Lourdes, Robertson, Stephen P., Sebastiani, Giorgia, Rappsilber, Juri, Allshire, Robin C., Reijns, Martin A. M., Dauber, Andrew, Sproul, Duncan, and Jackson, Andrew P.

Published
2019
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42. Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

Author

Wade, Emma M., Daniel, Philip B., Jenkins, Zandra A., McInerney-Leo, Aideen, Leo, Paul, Morgan, Tim, Addor, Marie Claude, Adès, Lesley C., Bertola, Debora, Bohring, Axel, Carter, Erin, Cho, Tae-Joon, Duba, Hans-Christoph, Fletcher, Elaine, Kim, Chong A., Krakow, Deborah, Morava, Eva, Neuhann, Teresa, Superti-Furga, Andrea, Veenstra-Knol, Irma, Wieczorek, Dagmar, Wilson, Louise C., Hennekam, Raoul C.M., Sutherland-Smith, Andrew J., Strom, Tim M., Wilkie, Andrew O.M., Brown, Matthew A., Duncan, Emma L., Markie, David M., and Robertson, Stephen P.

Published
2016
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45. Nosology of genetic skeletal disorders: 2023 revision

Author

Genetica Klinische Genetica, Unger, Sheila, Ferreira, Carlos R, Mortier, Geert R, Ali, Houda, Bertola, Débora R, Calder, Alistair, Cohn, Daniel H, Cormier-Daire, Valerie, Girisha, Katta M, Hall, Christine, Krakow, Deborah, Makitie, Outi, Mundlos, Stefan, Nishimura, Gen, Robertson, Stephen P, Savarirayan, Ravi, Sillence, David, Simon, Marleen, Sutton, V Reid, Warman, Matthew L, Superti-Furga, Andrea, Genetica Klinische Genetica, Unger, Sheila, Ferreira, Carlos R, Mortier, Geert R, Ali, Houda, Bertola, Débora R, Calder, Alistair, Cohn, Daniel H, Cormier-Daire, Valerie, Girisha, Katta M, Hall, Christine, Krakow, Deborah, Makitie, Outi, Mundlos, Stefan, Nishimura, Gen, Robertson, Stephen P, Savarirayan, Ravi, Sillence, David, Simon, Marleen, Sutton, V Reid, Warman, Matthew L, and Superti-Furga, Andrea

Published
2023

46. Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia

Author

Gray, Mary J., Kannu, Peter, Sharma, Swarkar, Neyt, Christine, Zhang, Dongping, Paria, Nandina, Daniel, Philip B., Whetstone, Heather, Sprenger, Hans-Georg, Hammerschmidt, Philipp, Weng, Angela, Dupuis, Lucie, Jobling, Rebekah, Mendoza-Londono, Roberto, Dray, Michael, Su, Peiqiang, Wilson, Megan J., Kapur, Raj P., McCarthy, Edward F., Alman, Benjamin A., Howard, Andrew, Somers, Gino R., Marshall, Christian R., Manners, Simon, Flanagan, Adrienne M., Rathjen, Karl E., Karol, Lori A., Crawford, Haemish, Markie, David M., Rios, Jonathan J., Wise, Carol A., and Robertson, Stephen P.

Published
2015
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48. Mutations in the netrin-1 gene cause congenital mirror movements

Author

Meneret, Aurelie, Franz, Elizabeth A., Trouillard, Oriane, Oliver, Thomas C., Zagar, Yvrick, Robertson, Stephen P., Welniarz, Quentin, MacKinlay Gardner, R.J., Gallea, Cecile, Srour, Myriam, Depienne, Christel, Jasoni, Christine L., Dubacq, Caroline, Riant, Florence, Lamy, Jean-Charles, Morel, Marie- Pierre, Guerois, Raphael, Andreani, Jessica, Fouquet, Coralie, Doulazmi, Mohamed, Vidailhet, Marie, Rouleau, Guy A., Brice, Alexis, Chedotal, Alain, Dusart, Isabelle, Roze, Emmanuel, and Markie, David

Subjects
Electromyography -- Usage, Movement disorders -- Diagnosis -- Care and treatment, Gene mutation -- Research, Cell migration -- Research, Health care industry
Abstract

Netrin-1 is a secreted protein that was first identified 20 years ago as an axon guidance molecule that regulates midline crossing in the CNS. It plays critical roles in various tissues throughout development and is implicated in tumorigenesis and inflammation in adulthood. Despite extensive studies, no inherited human disease has been directly associated with mutations in NTN1, the gene coding for netrin-1. Here, we have identified 3 mutations in exon 7 of NTN1 in 2 unrelated families and 1 sporadic case with isolated congenital mirror movements (CMM), a disorder characterized by involuntary movements of one hand that mirror intentional movements of the opposite hand. Given the diverse roles of netrin-1, the absence of manifestations other than CMM in NTN1 mutation carriers was unexpected. Using multimodal approaches, we discovered that the anatomy of the corticospinal tract (CST) is abnormal in patients with NTNI-mutant CMM. When expressed in HEK293 or stable HeLa cells, the 3 mutated netrin-1 proteins were almost exclusively detected in the intracellular compartment, contrary to WT netrin-1, which is detected in both intracellular and extracellular compartments. Since netrin-1 is a diffusible extracellular cue, the pathophysiology likely involves its loss of function and subsequent disruption of axon guidance, resulting in abnormal decussation of the CST., Introduction Netrins are a family of extracellular proteins that regulate cell migration and survival during development and adulthood. The first member, netrin-1, was identified as a secreted protein mediating axon [...]

Published
2017
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