Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis von Tonne, Elin, Due-Tonnessen, Bernt Johan, Mero, Inger-Lise, Wiig, Ulrikke Straume, Kulseth, Mari Ann, Vigeland, Magnus Dehli, Sheng, Ying, von der Lippe, Charlotte, Tveten, Kristian, Meling, Torstein Ragnar, Helseth, Eirik, Heimdal, Ketil Riddervold

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RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric function von Samra, Nadra, Toubiana, Shir, Yttervik, Hilde, Tzur-Gilat, Aya, Morani, Ilham, Itzkovich, Chen, Giladi, Liran, Abu Jabal, Kamal, Cao, John Z., Godley, Lucy A., Mory, Adi, Baris Feldman, Hagit, Tveten, Kristian, Selig, Sara, Weiss, Karin

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PCSK9-mediated degradation of the LDL receptor generates a 17 kDa C-terminal LDL receptor fragment von Tveten, Kristian, Str⊘m, Thea Bismo, Berge, Knut Erik, Leren, Trond P.

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Role of the C-terminal domain of PCSK9 in degradation of the LDL receptors von Holla, Øystein L., Cameron, Jamie, Tveten, Kristian, Str⊘m, Thea Bismo, Berge, Knut Erik, Laerdahl, Jon K., Leren, Trond P.

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PAPSS2‐related brachyolmia: Clinical and radiological phenotype in 18 new cases von Bownass, Lucy, Abbs, Stephen, Armstrong, Ruth, Baujat, Genevieve, Behzadi, Gry, Berentsen, Ragnhild Drage, Burren, Christine, Calder, Alistair, Cormier‐Daire, Valérie, Newbury‐Ecob, Ruth, Foulds, Nicola, Juliusson, Petur B., Kant, Sarina G., Lefroy, Henrietta, Mehta, Sarju G., Merckoll, Else, Michot, Caroline, Monsell, Fergal, Offiah, Amaka C., Richards, Allan, Rosendahl, Karen, Rustad, Cecilie F., Shears, Deborah, Tveten, Kristian, Wellesley, Diana, Wordsworth, Paul, Smithson, Sarah

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A monoallelic UXS1 variant associated with short‐limbed short stature von Rustad, Cecilie F., Backe, Paul Hoff, Jin, Chunsheng, Merckoll, Else, Tveten, Kristian, Maciej‐Hulme, Marissa Lucy, Karlsson, Niclas, Prescott, Trine, Sand, Elise Sandås, Woldseth, Berit, Elgstøen, Katja Benedikte Prestø, Holla, Øystein L.

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Mutations in the SORT1 gene are unlikely to cause autosomal dominant hypercholesterolemia von Tveten, Kristian, Strøm, Thea Bismo, Cameron, Jamie, Berge, Knut Erik, Leren, Trond P

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Genetic and Phenotypic Characterization of Community Hospital Patients With QT Prolongation von Gibbs, Charlotte, Thalamus, Jacob, Tveten, Kristian, Busk, Øyvind L, Hysing, Jan, Haugaa, Kristina H, Holla, Øystein L

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4‐Phenylbutyrate restores the functionality of a misfolded mutant low‐density lipoprotein receptor von Tveten, Kristian, Holla, Øystein L., Ranheim, Trine, Berge, Knut E., Leren, Trond P., Kulseth, Mari A.

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Mutation G805R in the transmembrane domain of the LDL receptor gene causes familial hypercholesterolemia by inducing ectodomain cleavage of the LDL receptor in the endoplasmic reti... von Strøm, Thea Bismo, Tveten, Kristian, Laerdahl, Jon K., Leren, Trond P.

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Characterization of a naturally occurring degradation product of the LDL receptor von Tveten, Kristian, Strøm, Thea Bismo, Cameron, Jamie, Holla, Øystein L., Berge, Knut Erik, Leren, Trond P.

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Phenotypic expansion of ARSK‐related mucopolysaccharidosis von Rustad, Cecilie F., Prescott, Trine E., Merckoll, Else, Kristensen, Erle, Salvador, Cathrin L., Nordgarden, Hilde, Tveten, Kristian

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De novo substitutions of TRPM3 cause intellectual disability and epilepsy von Dyment, David A, Terhal, Paulien A, Rustad, Cecilie F, Tveten, Kristian, Griffith, Christopher, Jayakar, Parul, Shinawi, Marwan, Ellingwood, Sara, Smith, Rosemarie, van Gassen, Koen, McWalter, Kirsty, Innes, A Micheil, Lines, Matthew A

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Genetic overlap between ALS and other neurodegenerative or neuromuscular disorders von Olsen, Cathrine Goberg, Busk, Øyvind, Holla, Øystein Lunde, Tveten, Kristian, Holmøy, Trygve, Tysnes, Ole-Bjørn, Høyer, Helle

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KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating von Zhang, Yongqiang, Tachtsidis, Georgios, Schob, Claudia, Koko, Mahmoud, Hedrich, Ulrike B S, Lerche, Holger, Lemke, Johannes R, van Haeringen, Arie, Ruivenkamp, Claudia, Prescott, Trine, Tveten, Kristian, Gerstner, Thorsten, Pruniski, Brianna, DiTroia, Stephanie, VanNoy, Grace E, Rehm, Heidi L, McLaughlin, Heather, Bolz, Hanno J, Zechner, Ulrich, Bryant, Emily, McDonough, Tiffani, Kindler, Stefan, Bähring, Robert

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Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia von Barish, Scott, Lin, Sheng-Jia, Maroofian, Reza, Gezdirici, Alper, Alhebby, Hamoud, Trimouille, Aurélien, Biderman Waberski, Marta, Mitani, Tadahiro, Huber, Ilka, Tveten, Kristian, Holla, Øystein L., Busk, Øyvind L., Houlden, Henry, Ghayoor Karimiani, Ehsan, Beiraghi Toosi, Mehran, Shervin Badv, Reza, Najarzadeh Torbati, Paria, Eghbal, Fatemeh, Akhondian, Javad, Al Safar, Ayat, Alswaid, Abdulrahman, Zifarelli, Giovanni, Bauer, Peter, Marafi, Dana, Fatih, Jawid M., Huang, Kevin, Petree, Cassidy, Calame, Daniel G., von der Lippe, Charlotte, Alkuraya, Fowzan S., Wali, Sami, Lupski, James R., Varshney, Gaurav K., Posey, Jennifer E., Pehlivan, Davut

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The effect of bafilomycin A1 and protease inhibitors on the degradation and recycling of a Class 5-mutant LDLR von Tveten, Kristian, Ranheim, Trine, Berge, Knut Erik, Leren, Trond P., Kulseth, Mari Ann

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Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies von Nil, Zelha, Deshwar, Ashish R, Barish, Scott, Zhang, Xi, Choufani, Sanaa, Le Quesne Stabej, Polona, Hayes, Ian, Yap, Patrick, Haldeman-Englert, Chad, Wilson, Carolyn, Prescott, Trine, Tveten, Kristian, Vøllo, Arve, Haynes, Devon, Wheeler, Patricia G, Zon, Jessica, Cytrynbaum, Cheryl, Jobling, Rebekah, Blyth, Moira, Banka, Siddharth, Afenjar, Alexandra, Mignot, Cyril, Robin-Renaldo, Florence, Keren, Boris, Kanca, Oguz, Mao, Xiao, Wegner, Daniel J, Sisco, Kathleen, Shinawi, Marwan, Wangler, Michael F, Weksberg, Rosanna, Yamamoto, Shinya, Costain, Gregory, Bellen, Hugo J

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De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders von Dulovic-Mahlow, Marija, Trinh, Joanne, Kandaswamy, Krishna Kumar, Braathen, Geir Julius, Di Donato, Nataliya, Rahikkala, Elisa, Beblo, Skadi, Werber, Martin, Krajka, Victor, Busk, Øyvind L., Baumann, Hauke, Al-Sannaa, Nouriya Abbas, Hinrichs, Frauke, Affan, Rabea, Navot, Nir, Al Balwi, Mohammed A., Oprea, Gabriela, Holla, Øystein L., Weiss, Maximilian E.R., Jamra, Rami A., Kahlert, Anne-Karin, Kishore, Shivendra, Tveten, Kristian, Vos, Melissa, Rolfs, Arndt, Lohmann, Katja

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Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies von Yuan, Bo, Neira, Juanita, Pehlivan, Davut, Santiago-Sim, Teresa, Song, Xiaofei, Rosenfeld, Jill, Posey, Jennifer E., Patel, Vipulkumar, Jin, Weihong, Adam, Margaret P., Baple, Emma L., Dean, John, Fong, Chin-To, Hickey, Scott E., Hudgins, Louanne, Leon, Eyby, Madan-Khetarpal, Suneeta, Rawlins, Lettie, Rustad, Cecilie F., Stray-Pedersen, Asbjørg, Tveten, Kristian, Wenger, Olivia, Diaz, Jullianne, Jenkins, Laura, Martin, Laura, McGuire, Marianne, Pietryga, Marguerite, Ramsdell, Linda, Slattery, Leah, Abid, Farida, Bertuch, Alison A., Grange, Dorothy, Immken, LaDonna, Schaaf, Christian P., Van Esch, Hilde, Bi, Weimin, Cheung, Sau Wai, Breman, Amy M., Smith, Janice L., Shaw, Chad, Crosby, Andrew H., Eng, Christine, Yang, Yaping, Lupski, James R., Xiao, Rui, Liu, Pengfei

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