Mutational spectrum and phenotypes in Danish families with hereditary angioedema because of C1 inhibitor deficiency von Bygum, A, Fagerberg, C.R, Ponard, D, Monnier, N, Lunardi, J, Drouet, C

Volltext

Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration von Fagerberg, Christina R, Taylor, Adrian, Distelmaier, Felix, Schrøder, Henrik D, Kibæk, Maria, Wieczorek, Dagmar, Tarnopolsky, Mark, Brady, Lauren, Larsen, Martin J, Jamra, Rami A, Seibt, Annette, Hejbøl, Eva Kildall, Gade, Else, Markovic, Ljubo, Klee, Dirk, Nagy, Peter, Rouse, Nicholas, Agarwal, Prasoon, Dolinsky, Vernon W, Bakovic, Marica

Volltext

Mutations affecting the N-terminal domains of SHANK3 point to different pathomechanisms in neurodevelopmental disorders von Woike, Daniel, Wang, Emily, Tibbe, Debora, Hassani Nia, Fatemeh, Failla, Antonio Virgilio, Kibæk, Maria, Overgård, Tinett Martesen, Larsen, Martin J., Fagerberg, Christina R., Barsukov, Igor, Kreienkamp, Hans-Jürgen

Volltext

Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism von Twigg, S.R.F., Ousager, L.B., Miller, K.A., Zhou, Y., Elalaoui, S.C., Sefiani, A., Bak, G.S, Hove, H., Hansen, L.K., Fagerberg, C.R., Tajir, M., Wilkie, A.O.M.

Volltext

Histiocytic disorders of the gastrointestinal tract von Detlefsen, Sönke, MD, PhD, Fagerberg, Christina R., MD, Ousager, Lilian B., MD, PhD, Lindebjerg, Jan, MD, Marcussen, Niels, MD, DrMedSc, Nathan, Torben, MD, Sørensen, Flemming B., MD, DrMedSc

Volltext

Comprehensive Noninvasive Fetal Screening by Deep Trio-Exome Sequencing von Miceikaitė, Ieva, Hao, Qin, Brasch-Andersen, Charlotte, Fagerberg, Christina R., Torring, Pernille M., Kristiansen, Britta S., Ousager, Lilian B., Sperling, Lene, Ibsen, Mette H., Löser, Katrin, Larsen, Martin J.

Volltext

ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature von Kushary, Sulagna Tina, Revah‐Politi, Anya, Barua, Subit, Ganapathi, Mythily, Accogli, Andrea, Aggarwal, Vimla, Brunetti‐Pierri, Nicola, Cappuccio, Gerarda, Capra, Valeria, Fagerberg, Christina R., Gazdagh, Gabriella, Guzman, Edwin, Hadonou, Medard, Harrison, Victoria, Havelund, Kathrine, Iancu, Daniela, Kraus, Alison, Lippa, Natalie C., Mansukhani, Mahesh, McBrian, Danielle, McEntagart, Meriel, Pacio‐Míguez, Marta, Palomares‐Bralo, María, Pottinger, Carrie, Ruivenkamp, Claudia A. L., Sacco, Oliviero, Santen, Gijs W. E., Santos‐Simarro, Fernando, Scala, Marcello, Short, John, Sørensen, Kristina P., Woods, Christopher G., Anyane Yeboa, Kwame

Volltext

Heart defects and other features of the 22q11 distal deletion syndrome von Fagerberg, Christina R, Graakjaer, Jesper, Heinl, Ulrike D, Ousager, Lilian B, Dreyer, Inken, Kirchhoff, Maria, Rasmussen, Anders A, Lautrup, Charlotte K, Birkebaek, Niels, Sorensen, Keld

Volltext

Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3 mutation von Bygum, Anette, Fagerberg, Christina R, Clemmensen, Ole J, Fiebig, Britta, Hafner, Christian

Volltext

Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities von Muir, Alison M., Cohen, Jennifer L., Sheppard, Sarah E., Guttipatti, Pavithran, Lo, Tsz Y., Weed, Natalie, Doherty, Dan, DeMarzo, Danielle, Fagerberg, Christina R., Kjærsgaard, Lars, Larsen, Martin J., Rump, Patrick, Löhner, Katharina, Hirsch, Yoel, Zeevi, David A., Zackai, Elaine H., Bhoj, Elizabeth, Song, Yuanquan, Mefford, Heather C.

Volltext

Mono‐allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletions von Terkelsen, Thorkild, Brasch‐Andersen, Charlotte, Illum, Niels, Busa, Tiffany, Missirian, Chantal, Chandler, Kate, Holden, Simon T., Jensen, Uffe Birk, Fagerberg, Christina R.

Volltext

De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies von Holt, Richard J., Young, Rodrigo M., Crespo, Berta, Ceroni, Fabiola, Curry, Cynthia J., Bellacchio, Emanuele, Bax, Dorine A., Ciolfi, Andrea, Simon, Marleen, Fagerberg, Christina R., van Binsbergen, Ellen, De Luca, Alessandro, Memo, Luigi, Dobyns, William B., Mohammed, Alaa Afif, Clokie, Samuel J.H., Zazo Seco, Celia, Jiang, Yong-Hui, Sørensen, Kristina P., Andersen, Helle, Sullivan, Jennifer, Powis, Zöe, Chassevent, Anna, Smith-Hicks, Constance, Petrovski, Slavé, Antoniadi, Thalia, Shashi, Vandana, Gelb, Bruce D., Wilson, Stephen W., Gerrelli, Dianne, Tartaglia, Marco, Chassaing, Nicolas, Calvas, Patrick, Ragge, Nicola K.

Volltext

Nutritive Phagocyte Incubation Chambers Provide a Structural and Nutritive Microenvironment for Germ Cells of Strongylocentrotus droebachiensis, the Green Sea Urchin von Walker, Charles W., Harrington, Laura M., Lesser, Michael P., Fagerberg, Wayne R.

Volltext

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism von Guo, Hui, Zhang, Qiumeng, Dai, Rujia, Yu, Bin, Hoekzema, Kendra, Tan, Jieqiong, Tan, Senwei, Jia, Xiangbin, Chung, Wendy K, Hernan, Rebecca, Alkuraya, Fowzan S, Alsulaiman, Ahood, Al-Muhaizea, Mohammad A, Lesca, Gaetan, Pons, Linda, Labalme, Audrey, Laux, Linda, Bryant, Emily, Brown, Natasha J, Savva, Elena, Ayres, Samantha, Eratne, Dhamidhu, Peeters, Hilde, Bilan, Frédéric, Letienne-Cejudo, Lucile, Gilbert-Dussardier, Brigitte, Ruiz-Arana, Inge-Lore, Merlini, Jenny Meylan, Boizot, Alexia, Bartoloni, Lucia, Santoni, Federico, Karlowicz, Danielle, McDonald, Marie, Wu, Huidan, Hu, Zhengmao, Chen, Guodong, Ou, Jianjun, Brasch-Andersen, Charlotte, Fagerberg, Christina R, Dreyer, Inken, Chun-Hui Tsai, Anne, Slegesky, Valerie, McGee, Rose B, Daniels, Brina, Sellars, Elizabeth A, Carpenter, Lori A, Schaefer, Bradley, Sacoto, Maria J Guillen, Begtrup, Amber, Schnur, Rhonda E, Punj, Sumit, Wentzensen, Ingrid M, Rhodes, Lindsay, Pan, Qian, Bernier, Raphael A, Chen, Chao, Eichler, Evan E, Xia, Kun

Volltext

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology von Oppermann, Henry, Marcos-Grañeda, Elia, Weiss, Linnea A, Gurnett, Christina A, Jelsig, Anne Marie, Vineke, Susanne H, Isidor, Bertrand, Mercier, Sandra, Magnussen, Kari, Zacher, Pia, Hashim, Mona, Pagnamenta, Alistair T, Race, Simone, Srivastava, Siddharth, Frazier, Zoë, Maiwald, Robert, Pergande, Matthias, Milani, Donatella, Rinelli, Martina, Levy, Jonathan, Krey, Ilona, Fontana, Paolo, Lonardo, Fortunato, Riley, Stephanie, Kretzer, Jasmine, Rankin, Julia, Reis, Linda M, Semina, Elena V, Reuter, Miriam S, Scherer, Stephen W, Iascone, Maria, Weis, Denisa, Fagerberg, Christina R, Brasch-Andersen, Charlotte, Hansen, Lars Kjaersgaard, Kuechler, Alma, Noble, Nathan, Gardham, Alice, Tenney, Jessica, Rathore, Geetanjali, Beck-Woedl, Stefanie, Haack, Tobias B, Pavlidou, Despoina C, Atallah, Isis, Vodopiutz, Julia, Janecke, Andreas R, Hsieh, Tzung-Chien, Lesmann, Hellen, Klinkhammer, Hannah, Krawitz, Peter M, Lemke, Johannes R, Jamra, Rami Abou, Nieto, Marta, Tümer, Zeynep, Platzer, Konrad

Volltext

Carriers of COL3A1 pathogenic variants in Denmark: Interfamilial variability in severity and outcome of elective surgical procedures von Sølyst, Sofus, Oksjoki, Riina, Farholt, Stense, Nielsen, Dorte Guldbrand, Christensen, Alex H., Fagerberg, Christina R., Risom, Lotte, Gregersen, Pernille Axél, Christensen, Maria Bejerholm, Rasmussen, Torsten Bloch, Diness, Birgitte Rode

Volltext

Prostaglandin E2‐EP3 receptor subtype gene deletion in mother and son impairs platelet aggregation von Goharian, Tina S., Fagerberg, Christina R., Jensen, Boye L., Graakjaer, Jesper, Brasch‐Andersen, Charlotte, Nybo, Mads

Volltext

Prostaglandin E 2 -EP 3 receptor subtype gene deletion in mother and son impairs platelet aggregation von Goharian, Tina S, Fagerberg, Christina R, Jensen, Boye L, Graakjaer, Jesper, Brasch-Andersen, Charlotte, Nybo, Mads

Volltext

Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI‐anchored proteins von Salian, Smrithi, Scala, Marcello, Nguyen, Thi Tuyet Mai, Severino, Mariasavina, Accogli, Andrea, Amadori, Elisabetta, Torella, Annalaura, Pinelli, Michele, Hudson, Beth, Boothe, Megan, Hurst, Anna, Ben‐Omran, Tawfeg, Larsen, Martin J., Fagerberg, Christina R., Sperling, Lene, Miceikaite, Ieva, Herissant, Lucas, Doco‐Fenzy, Martine, Jennesson, Mélanie, Nigro, Vincenzo, Striano, Pasquale, Minetti, Carlo, Sachdev, Rani K., Palmer, Emma Elizabeth, Capra, Valeria, Campeau, Philippe M.

Volltext

Novel phenotype of syndromic premature ovarian insufficiency associated with TP63 molecular defect von Mathorne, Stine W., Ravn, Pernille, Hansen, Dorte, Beck‐Nielsen, Signe S., Gjørup, Hans, Sørensen, Kristina P., Fagerberg, Christina R.

Volltext