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

Autor: 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

Publikováno v: van der Sluijs, P J, Joosten, M, Alby, C, Attié-Bitach, T, Gilmore, K, Dubourg, C, Fradin, M, Wang, T, Kurtz-Nelson, E C, Ahlers, K P, Arts, P, Barnett, C P, Ashfaq, M, Baban, A, van den Born, M, Borrie, S, Busa, T, Byrne, A, Carriero, M, Cesario, C, Chong, K, Cueto-González, A M, Dempsey, J C, Diderich, K E M, Doherty, D, Farholt, S, Gerkes, E H, Gorokhova, S, Govaerts, L C P, Gregersen, P A, Hickey, S E, Lefebvre, M, Mari, F, Martinovic, J, Northrup, H, O'Leary, M, Parbhoo, K, Patrier, S, Popp, B, Santos-Simarro, F, Stoltenburg, C, Thauvin-Robinet, C, Thompson, E, Vulto-van Silfhout, A T, Zahir, F R, Scott, H S, Earl, R K, Eichler, E E, Vora, N L, Wilnai, Y, Giordano, J L, Wapner, R J, Rosenfeld, J A, Haak, M C & Santen, G W E 2022, ' Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort ', Genetics in Medicine, vol. 24, no. 8, pp. 1753-1760 . https://doi.org/10.1016/j.gim.2022.04.010
Genetics in Medicine, 24, 1753-1760
Genetics in Medicine, 24, 8, pp. 1753-1760
Genetics in Medicine
Genetics in Medicine, 2022, 24 (8), pp.1753-1760. ⟨10.1016/j.gim.2022.04.010⟩
Genet Med
Genetics in Medicine, 24(8), 1753-1760. Lippincott Williams & Wilkins
Genetics in Medicine, 24(8), 1753-1760. Nature Publishing Group
Genetics in Medicine, 24(8), 1753-1760. ELSEVIER SCIENCE INC

Purpose: Genome-wide sequencing is increasingly being performed during pregnancy to identify the genetic cause of congenital anomalies. The interpretation of prenatally identified variants can be challenging and is hampered by our often limited knowl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::302232c268a34e8154eb121a3a262acc
http://www.scopus.com/inward/record.url?scp=85130377668&partnerID=8YFLogxK

Organophosphate Esters and Their Metabolites in Breast Milk from the United States: Breastfeeding Is an Important Exposure Pathway for Infants

Autor: Valerie Chu, Amina Salamova, Erika Schreder, Gabriel Andres, Nancy Uding, Sheela Sathyanarayana, Guomao Zheng, Jennifer C. Dempsey

Publikováno v: Environmental Science & Technology Letters. 8:224-230

Organophosphate esters (OPEs) are among the synthetic chemicals found in the highest concentrations in the indoor environment due to their use as flame retardants and plasticizers. In fish and wild...

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f56bb64501b2f54d33739d0f4578ffc5
https://doi.org/10.1021/acs.estlett.0c00916

A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria

Autor: Claudia A. L. Ruivenkamp, Isabelle Maystadt, Scott E. Hickey, Bert B.A. de Vries, Marielle Alders, Stéphanie Moortgat, Bregje W.M. van Bon, Jill A. Rosenfeld, Kareesma Parbhoo, Catherine Vincent-Delorme, Johan T. den Dunnen, Thomas Smol, Debra S. Regier, Pleuntje J. van der Sluijs, Gijs W. E. Santen, Alexander J. M. Dingemans, Betsy Schmalz, Erica H. Gerkes, Bekim Sadikovic, Kyra E. Stuurman, Dan Doherty, Jennifer C. Dempsey, Ilana M. Milller

Publikováno v: Genes
Volume 12
Issue 8
Paediatrics Publications
Genes, 12
Genes, 12, 8
Genes, 12(8):1275. Multidisciplinary Digital Publishing Institute (MDPI)
Genes, 12(8)
GENES
Genes, Vol 12, Iss 1275, p 1275 (2021)
Genes, 12(8):1275. MDPI AG

ARID1B is one of the most frequently mutated genes in intellectual disability (~1%). Most variants are readily classified, since they are de novo and are predicted to lead to loss of function, and therefore classified as pathogenic according to the A

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c369d8eb79c9d809709091e4a84f4d8

Per- and Polyfluoroalkyl Substances (PFAS) in Breast Milk: Concerning Trends for Current-Use PFAS

Autor: Gabriel Andres, Valerie Chu, Nancy Uding, Erika Schreder, Amina Salamova, Sheela Sathyanarayana, Jennifer C. Dempsey, Guomao Zheng

Publikováno v: Environmental sciencetechnology. 55(11)

This is the first study in the last 15 years to analyze per- and polyfluoroalkyl substances (PFAS) in breast milk collected from mothers (n = 50) in the United States, and our findings indicate that both legacy and current-use PFAS now contaminate br

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7370a18364002fdb88f94598b889b67
https://pubmed.ncbi.nlm.nih.gov/33982557

SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum

Autor: Valentina, Serpieri, Fulvio, D'Abrusco, Jennifer C, Dempsey, Yong-Han Hank, Cheng, Filippo, Arrigoni, Janice, Baker, Roberta, Battini, Enrico Silvio, Bertini, Renato, Borgatti, Angela K, Christman, Cynthia, Curry, Stefano, D'Arrigo, Joel, Fluss, Michael, Freilinger, Simone, Gana, Gisele E, Ishak, Vincenzo, Leuzzi, Hailey, Loucks, Filippo, Manti, Nancy, Mendelsohn, Laura, Merlini, Caitlin V, Miller, Ansar, Muhammad, Sara, Nuovo, Romina, Romaniello, Wolfgang, Schmidt, Sabrina, Signorini, Sabrina, Siliquini, Krzysztof, Szczałuba, Gessica, Vasco, Meredith, Wilson, Ginevra, Zanni, Eugen, Boltshauser, Dan, Doherty, Enza Maria, Valente, X, Zhang

Publikováno v: Journal of medical genetics, vol. 59, no. 9, pp. 888-894

BackgroundJoubert syndrome (JS) is a recessively inherited ciliopathy characterised by congenital ocular motor apraxia (COMA), developmental delay (DD), intellectual disability, ataxia, multiorgan involvement, and a unique cerebellar and brainstem ma

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc739ec43b16294432e6c486a220ed30
http://hdl.handle.net/11573/1582161