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14 results on '"Wells, Constance F"'

1. Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital’s perspective

Author

Wells, Constance F., Boursier, Guilaine, Yauy, Kevin, Ruiz-Pallares, Nathalie, Mechin, Déborah, Ruault, Valentin, Tharreau, Mylène, Blanchet, Patricia, Pinson, Lucile, Coubes, Christine, Fila, Marc, Baleine, Julien, Pidoux, Odile, Badr, Maliha, Milesi, Christophe, Cambonie, Gilles, Mesnage, Renaud, Dereure, Maëlle, Ardouin, Olivier, Guignard, Thomas, Geneviève, David, Barat-Houari, Mouna, and Willems, Marjolaine

Published
2022
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2. 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

3. Postnatal outcome of children with antenatal colonic hyperechogenicity

Author

Fuchs, Florent, primary, Rodriguez, Alexis, additional, Mousty, Eve, additional, Morin, Denis, additional, Roubertie, Agathe, additional, Wells, Constance F., additional, Prodhomme, Olivier, additional, Benoist, Jean‐François, additional, Dreux, Sophie, additional, Faure, Jean‐Michel, additional, and Willems, Marjolaine, additional

Published
2023
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4. Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

Author

Zhang, Li Xin, Lemire, Gabrielle, Gonzaga-Jauregui, Claudia, Molidperee, Sirinart, Galaz-Montoya, Carolina, Liu, David S., Verloes, Alain, Shillington, Amelle G., Izumi, Kosuke, Ritter, Alyssa L., Keena, Beth, Zackai, Elaine, Li, Dong, Bhoj, Elizabeth, Tarpinian, Jennifer M., Bedoukian, Emma, Kukolich, Mary K., Innes, A. Micheil, Ediae, Grace U., Sawyer, Sarah L., Nair, Karippoth Mohandas, Soumya, Para Chottil, Subbaraman, Kinattinkara R., Probst, Frank J., Bassetti, Jennifer A., Sutton, Reid V., Gibbs, Richard A., Brown, Chester, Boone, Philip M., Holm, Ingrid A., Tartaglia, Marco, Ferrero, Giovanni Battista, Niceta, Marcello, Dentici, Maria Lisa, Radio, Francesca Clementina, Keren, Boris, Wells, Constance F., Coubes, Christine, Laquerrière, Annie, Aziza, Jacqueline, Dubucs, Charlotte, Nampoothiri, Sheela, Mowat, David, Patel, Millan S., Bracho, Ana, Cammarata-Scalisi, Francisco, Gezdirici, Alper, Fernandez-Jaen, Alberto, Hauser, Natalie, Zarate, Yuri A., Bosanko, Katherine A., Dieterich, Klaus, Carey, John C., Chong, Jessica X., Nickerson, Deborah A., Bamshad, Michael J., Lee, Brendan H., Yang, Xiang-Jiao, Lupski, James R., and Campeau, Philippe M.

Published
2020
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5. Postnatal outcome of children with antenatal colonic hyperechogenicity.

Author

Fuchs, Florent, Rodriguez, Alexis, Mousty, Eve, Morin, Denis, Roubertie, Agathe, Wells, Constance F., Prodhomme, Olivier, Benoist, Jean‐François, Dreux, Sophie, Faure, Jean‐Michel, and Willems, Marjolaine

Abstract

Objective: To evaluate the postnatal outcome of children with antenatal colonic hyperechogenicity, currently considered as a sign of lysinuria‐cystinuria, but which may also be a sign of other disorders with a more severe prognosis. Method: We carried out a French multi‐centric retrospective study via 15 Multidisciplinary Center for Prenatal Diagnosis from January 2011 to January 2021. We included pregnancies for which fetal colonic hyperechogenicity had been demonstrated. We collected the investigations performed during pregnancy and at birth as well as the main clinical features of the mother and the child. We then established the prevalence of pathologies such as lysinuria‐cystinuria (LC), hypotonia‐cystinuria syndrome (HC), or lysinuric protein intolerance (LPI). Results: Among the 33 cases of colonic hyperechogenicity collected, and after exclusion of those lost to follow‐up, we identified 63% of children with lysinuria‐cystinuria, 8% with lysinuric rotein intolerance, and 4% with hypotonia‐cystinuria syndrome. Conclusion: Management of prenatal hyperechoic colon should include a specialized consultation with a clinical geneticist to discuss further investigations, which could include invasive amniotic fluid sampling for molecular diagnosis. A better understanding of diagnoses and prognosis should improve medical counseling and guide parental decision making. Key points: What's already known about this topic ? Currently, colonic hyperechogenicity is a sign of lysinuria‐cystinuria, but it can also be a sign of other disorders with a more severe prognosis. What does this study add? In this retrospective study, among fetuses with hyperechoic colon, we identified 63% of children with lysinuria‐cystinuria, 8% with lysinuric protein intolerance, and 4% with hypotonia‐cystinuria syndrome. These data are likely to modify the management of patients in whom a hyperechogenic fetal colon is identified. [ABSTRACT FROM AUTHOR]

Published
2024
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6. Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool

Author

Tran Mau-Them, Frédéric, primary, Delanne, Julian, additional, Denommé-Pichon, Anne-Sophie, additional, Safraou, Hana, additional, Bruel, Ange-Line, additional, Vitobello, Antonio, additional, Garde, Aurore, additional, Nambot, Sophie, additional, Bourgon, Nicolas, additional, Racine, Caroline, additional, Sorlin, Arthur, additional, Moutton, Sébastien, additional, Marle, Nathalie, additional, Rousseau, Thierry, additional, Sagot, Paul, additional, Simon, Emmanuel, additional, Vincent-Delorme, Catherine, additional, Boute, Odile, additional, Colson, Cindy, additional, Petit, Florence, additional, Legendre, Marine, additional, Naudion, Sophie, additional, Rooryck, Caroline, additional, Prouteau, Clément, additional, Colin, Estelle, additional, Guichet, Agnès, additional, Ziegler, Alban, additional, Bonneau, Dominique, additional, Morel, Godelieve, additional, Fradin, Mélanie, additional, Lavillaureix, Alinoé, additional, Quelin, Chloé, additional, Pasquier, Laurent, additional, Odent, Sylvie, additional, Vera, Gabriella, additional, Goldenberg, Alice, additional, Guerrot, Anne-Marie, additional, Brehin, Anne-Claire, additional, Putoux, Audrey, additional, Attia, Jocelyne, additional, Abel, Carine, additional, Blanchet, Patricia, additional, Wells, Constance F., additional, Deiller, Caroline, additional, Nizon, Mathilde, additional, Mercier, Sandra, additional, Vincent, Marie, additional, Isidor, Bertrand, additional, Amiel, Jeanne, additional, Dard, Rodolphe, additional, Godin, Manon, additional, Gruchy, Nicolas, additional, Jeanne, Médéric, additional, Schaeffer, Elise, additional, Maillard, Pierre-Yves, additional, Payet, Frédérique, additional, Jacquemont, Marie-Line, additional, Francannet, Christine, additional, Sigaudy, Sabine, additional, Bergot, Marine, additional, Tisserant, Emilie, additional, Ascencio, Marie-Laure, additional, Binquet, Christine, additional, Duffourd, Yannis, additional, Philippe, Christophe, additional, Faivre, Laurence, additional, and Thauvin-Robinet, Christel, additional

Published
2023
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8. Erratum : Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3 (The American Journal of Human Genetics (2018) 102(6) (1115–1125), (S000292971830140X), (10.1016/j.ajhg.2018.04.008))

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.

Subjects
Published Erratum
Abstract

(The American Journal of Human Genetics 102, 1115–1125; June 7, 2018) In the originally published version of this article, Kathrin Ludwig's name was misspelled in the author list. Her name appears correctly here and in the article online. The authors regret the error.

Published
2019

9. Erratum: Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3 (The American Journal of Human Genetics (2018) 102(6) (1115–1125), (S000292971830140X), (10.1016/j.ajhg.2018.04.008))

Author

Genetica Klinische Genetica, 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., Robertson, Stephen P., Genetica Klinische Genetica, 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
2019

10. Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3

Author

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

Published
2019
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11. 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, Ludkig, Kathrin, Trevisson, Eva, Bahlo, Melanie, Markie, David M, Jenkins, Zandra A, Robertson, Stephen P, 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, Ludkig, Kathrin, Trevisson, Eva, Bahlo, Melanie, Markie, David M, Jenkins, Zandra A, and Robertson, Stephen P

Published
2018

12. Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3

Author

Genetica Klinische Genetica, 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, Ludkig, Kathrin, Trevisson, Eva, Bahlo, Melanie, Markie, David M, Jenkins, Zandra A, Robertson, Stephen P, Genetica Klinische Genetica, 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, Ludkig, Kathrin, Trevisson, Eva, Bahlo, Melanie, Markie, David M, Jenkins, Zandra A, and Robertson, Stephen P

Published
2018

13. Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3

Author

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

Published
2018
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14. WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features

Author

Genetica, Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Skraban, Cara M, Wells, Constance F, Markose, Preetha, Cho, Megan T., Nesbitt, Addie I, Au, P Y Billie, Begtrup, Amber, Bernat, John A, Bird, Lynne M., Cao, Kajia, de Brouwer, Arjan P M, 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 L S, Verbeek, Nienke E., Walsh, Laurence E, Warner, Taylor C, Wheeler, Patricia G., Wieczorek, Dagmar, Wilkens, Alisha B, Zonneveld-Huijssoon, Evelien, Kleefstra, Tjitske, Robertson, Stephen P., Santani, Avni, van Gassen, Koen L.I., Deardorff, Matthew A, Genetica, Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Skraban, Cara M, Wells, Constance F, Markose, Preetha, Cho, Megan T., Nesbitt, Addie I, Au, P Y Billie, Begtrup, Amber, Bernat, John A, Bird, Lynne M., Cao, Kajia, de Brouwer, Arjan P M, 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 L S, Verbeek, Nienke E., Walsh, Laurence E, Warner, Taylor C, Wheeler, Patricia G., Wieczorek, Dagmar, Wilkens, Alisha B, Zonneveld-Huijssoon, Evelien, Kleefstra, Tjitske, Robertson, Stephen P., Santani, Avni, van Gassen, Koen L.I., and Deardorff, Matthew A

Published
2017

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