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1

by Sørensen, Ida W., Prescott, Trine, F. Rustad, Cecilie, Blinkenberg, Ellen Ø., Lippe, Charlotte von der
Published in Tidsskrift for Den norske legeforening (2020)

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2

Germline PTEN mutations are rare and highly penetrant

by Rustad, Cecilie F, Bjørnslett, Merete, Heimdal, Ketil R, Mæhle, Lovise, Apold, Jaran, Møller, Pål
Published in Hered Cancer Clin Pract (2006)

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3

Positive response to imatinib in PDGFRB ‐related Kosaki overgrowth syndrome

by Rustad, Cecilie F., Tveten, Kristian, Prescott, Trine E., Bjerkeseth, Peder O., Bredrup, Cecilie, Pfeiffer, Helle Cecilie Viekilde
Published in American Journal of Medical Genetics Part A (2021)

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4

Mann med stort hode, lærevansker og multiple basalcellekarsinomer

by Lippe, Charlotte von der, Roscher, Ingrid, Nordgarden, Hilde, Rustad, Cecilie, Larsen, Selma Mujezinovic, Mjøen, Even, Bratland, Åse
Published in Tidsskrift for Den norske legeforening (2014)

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5

Neurofibromatosis type 2: Multiple intra-dermal tumors in a toddler

by Rustad, Cecilie F., Dahl, Hilde M., Bowers, Naomi L., Sitek, Jan C., Heiberg, Arvid, Huson, Susan, Prescott, Trine, Evans, D. Gareth R.
Published in American Journal of Medical Genetics Part A (2017)

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6

Re: Spesialpoliklinikk for skjelettdysplasier

by Rustad, Cecilie, Bjørndalen, Hilde, Myhre, Anne Grethe, Heier, Cathrine Alsaker, Horn, Joachim, Knaus, Andreas, Hvid, Ivan, Merckoll, Else, Tveiterås, Målfrid, Westvik, Jostein
Published in Tidsskrift for Den norske legeforening (2015)

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7

Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis

by Smith, Miriam J., Kulkarni, Anjana, Rustad, Cecilie, Bowers, Naomi L., Wallace, Andrew J., Holder, Susan E., Heiberg, Arvid, Ramsden, Richard T., Evans, D. Gareth
Published in American Journal of Medical Genetics Part A (2012)

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8

Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations

by Bober, Michael B., Niiler, Tim, Duker, Angela L., Murray, Jennie E., Ketterer, Tara, Harley, Margaret E., Alvi, Sabah, Flora, Christina, Rustad, Cecilie, Bongers, Ernie M.H.F., Bicknell, Louise S., Wise, Carol, Jackson, Andrew P.
Published in American Journal of Medical Genetics Part A (2012)

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9

The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping

by Marbach, Felix, Rustad, Cecilie F., Riess, Angelika, Đukić, Dejan, Hsieh, Tzung-Chien, Jobani, Itamar, Prescott, Trine, Bevot, Andrea, Erger, Florian, Houge, Gunnar, Redfors, Maria, Altmueller, Janine, Stokowy, Tomasz, Gilissen, Christian, Kubisch, Christian, Scarano, Emanuela, Mazzanti, Laura, Fiskerstrand, Torunn, Krawitz, Peter M., Lessel, Davor, Netzer, Christian
Published in The American Journal of Human Genetics (2019)

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10

Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults: Recommendations for Genetic Diagnosis, Clinical Management and Follow-up

by Baliakas, Panagiotis, Tesi, Bianca, Wartiovaara-Kautto, Ulla, Stray-Pedersen, Asbjørg, Friis, Lone Smidstrup, Dybedal, Ingunn, Hovland, Randi, Jahnukainen, Kirsi, Raaschou-Jensen, Klas, Ljungman, Per, Rustad, Cecilie F., Lautrup, Charlotte K., Kilpivaara, Outi, Kittang, Astrid Olsnes, Grønbæk, Kirsten, Cammenga, Jörg, Hellström-Lindberg, Eva, Andersen, Mette K.
Published in HemaSphere (2019)

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11

by 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
Published in American Journal of Medical Genetics Part A (2019)

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12

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

by Wang, Zheng, Iida, Aritoshi, Miyake, Noriko, Nishiguchi, Koji M., Fujita, Kosuke, Nakazawa, Toru, Alswaid, Abdulrahman, Albalwi, Mohammed A., Kim, Ok-Hwa, Cho, Tae-Joon, Lim, Gye-Yeon, Isidor, Bertrand, David, Albert, Rustad, Cecilie F., Merckoll, Else, Westvik, Jostein, Stattin, Eva-Lena, Grigelioniene, Giedre, Kou, Ikuyo, Nakajima, Masahiro, Ohashi, Hirohumi, Smithson, Sarah, Matsumoto, Naomichi, Nishimura, Gen, Ikegawa, Shiro
Published in PLOS ONE (2016)

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13

The Cardiac Phenotype in Patients With a CHD7 Mutation

by Corsten-Janssen, Nicole, Kerstjens-Frederikse, Wilhelmina S., du Marchie Sarvaas, Gideon J., Baardman, Maria E., Bakker, Marian K., Bergman, Jorieke E.H., Hove, Hanne D., Heimdal, Ketil R., Rustad, Cecilie F., Hennekam, Raoul C.M., Hofstra, Robert M.W., Hoefsloot, Lies H., Van Ravenswaaij-Arts, Conny M.A., Kapusta, Livia
Published in Circulation: Cardiovascular Genetics (2013)

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14

Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients

by Vals, Mari-Anne, Ashikov, Angel, Ilves, Pilvi, Loorits, Dagmar, Zeng, Qiang, Barone, Rita, Huijben, Karin, Sykut-Cegielska, Jolanta, Diogo, Luísa, Elias, Abdallah F., Greenwood, Robert S., Grunewald, Stephanie, van Hasselt, Peter M., van de Kamp, Jiddeke M., Mancini, Grazia, Okninska, Agnieszka, Pajusalu, Sander, Rudd, Pauline M., Rustad, Cecilie F., Salvarinova, Ramona, de Vries, Bert B.A., Wolf, Nicole I., Ng, Bobby G., Freeze, Hudson H., Lefeber, Dirk J., Õunap, Katrin
Published in Journal of Inherited Metabolic Disease (2019)

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15

PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia

by Stray-Pedersen, Asbjørg, Backe, Paul H., Sorte, Hanne S., Mørkrid, Lars, Chokshi, Niti Y., Erichsen, Hans Christian, Gambin, Tomasz, Elgstøen, Katja B.P., Bjørås, Magnar, Wlodarski, Marcin W., Krüger, Marcus, Jhangiani, Shalini N., Muzny, Donna M., Patel, Ankita, Raymond, Kimiyo M., Sasa, Ghadir S., Krance, Robert A., Martinez, Caridad A., Abraham, Shirley M., Speckmann, Carsten, Ehl, Stephan, Hall, Patricia, Forbes, Lisa R., Merckoll, Else, Westvik, Jostein, Nishimura, Gen, Rustad, Cecilie F., Abrahamsen, Tore G., Rønnestad, Arild, Osnes, Liv T., Egeland, Torstein, Rødningen, Olaug K., Beck, Christine R., Boerwinkle, Eric A., Gibbs, Richard A., Lupski, James R., Orange, Jordan S., Lausch, Ekkehart, Hanson, I. Celine
Published in The American Journal of Human Genetics (2014)

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