Phenotype and Genotype in Rare Disorders: Publications

Publications 2025

Perry J, Bunnik E, Rietschel M, Bentzen HB, Ingvoldstad Malmgren C, Pawlak J, Chaumette B, Tammimies K, Bialy F, Bizzarri V, Borg I, Coviello D, Crepaz-Keay D, Ivanova E, McQuillin A, Mežinska S, Johansson Soller M, Suvisaari J, Watson M, Wirgenes K, Wynn SL, Degenhardt F, Schicktanz S (2025)
Unresolved ethical issues of genetic counseling and testing in clinical psychiatry
Psychiatr Genet, 35 (2), 26-36
DOI 10.1097/YPG.0000000000000385, PubMed 39945108

Publications 2024

Dodd DO, Mechaussier S, Yeyati PL, McPhie F, Anderson JR, Khoo CJ, Shoemark A, Gupta DK, Attard T, Zariwala MA, Legendre M, Bracht D, Wallmeier J, Gui M, Fassad MR, Parry DA, Tennant PA, Meynert A, Wheway G, Fares-Taie L, Black HA, Mitri-Frangieh R, Faucon C, Kaplan J, Patel M et al. (2024)
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules
Science, 384 (6694), eadf5489
DOI 10.1126/science.adf5489, PubMed 38662826

Husain RA, Jiao X, Hennings JC, Giesecke J, Palsule G, Beck-Wödl S, Osmanović D, Bjørgo K, Mir A, Ilyas M, Abbasi SM, Efthymiou S, Dominik N, Maroofian R, Houlden H, Rankin J, Pagnamenta AT, Nashabat M, Altwaijri W, Alfadhel M, Umair M, Khouj E, Reardon W, El-Hattab AW, Mekki M et al. (2024)
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease
Brain, 147 (4), 1197-1205
DOI 10.1093/brain/awad434, PubMed 38141063

Iversen N, Henriksson CE, Sletten M, Le MS, Lindberg BR, Andersen R, Paus B (2024)
Heterozygosity for the Budapest 3 mutation in SERPINC1 in a family with thrombophilia and structural anomalies of the inferior vena cava
Thromb J, 22 (1), 75
DOI 10.1186/s12959-024-00644-1, PubMed 39129027

Kennelly SS, Hovland V, Matthews IL, Reinholt FP, Skjerven H, Heimdal K, Crowley S (2024)
Tracheobronchomalacia is common in children with primary ciliary dyskinesia-A case note review
Pediatr Pulmonol, 59 (12), 3560-3568
DOI 10.1002/ppul.27262, PubMed 39291788

Mero IL, Orozco Rodriguez JM, Bjørgo K, Hankin RA, Krupinska E, Kulseth MA, Rossow MA, Knecht W (2024)
A mild skeletal phenotype with overlapping features of Miller syndrome and functional characterisation of two new variants of human dihydroorotate dehydrogenase
Heliyon, 10 (19), e38659
DOI 10.1016/j.heliyon.2024.e38659, PubMed 39430512

Revencu N, Eijkelenboom A, Bracquemart C, Alhopuro P, Armstrong J, Baselga E, Cesario C, Dentici ML, Eyries M, Frisk S, Karstensen HG, Gene-Olaciregui N, Kivirikko S, Lavarino C, Mero IL, Michiels R, Pisaneschi E, Schönewolf-Greulich B, Wieland I, Zenker M, Vikkula M (2024)
Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA
Orphanet J Rare Dis, 19 (1), 213
DOI 10.1186/s13023-024-03196-9, PubMed 38778413

Revencu N, Eijkelenboom A, Bracquemart C, Alhopuro P, Armstrong J, Baselga E, Cesario C, Dentici ML, Eyries M, Frisk S, Karstensen HG, Gene-Olaciregui N, Kivirikko S, Lavarino C, Mero IL, Michiels R, Pisaneschi E, Schönewolf-Greulich B, Wieland I, Zenker M, Vikkula M (2024)
Correction to: Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA
Orphanet J Rare Dis, 19 (1), 369
DOI 10.1186/s13023-024-03296-6, PubMed 39375751

Ørstavik K, Solbakken G, Rasmussen M, Sanaker PS, Fossmo HL, Bryne E, Knutsen-Øy T, Elgsås T, Heiberg A (2024)
[Not Available]
Tidsskr Nor Laegeforen, 144
DOI 10.4045/tidsskr.24.0236, PubMed 38738573

Publications 2023

Chaudhry FA, Sajjad TA, Heiberg A (2023)
[Not Available]
Tidsskr Nor Laegeforen, 143 (18)
DOI 10.4045/tidsskr.23.0733, PubMed 38088291

Cockerell I, Christensen J, Hoei-Hansen CE, Holst L, Grenaa Frederiksen M, Issa-Epe AI, Nedregaard B, Solhoff R, Heimdal K, Johannessen Landmark C, Lund C, Nærland T (2023)
Effectiveness and safety of everolimus treatment in patients with tuberous sclerosis complex in real-world clinical practice
Orphanet J Rare Dis, 18 (1), 377
DOI 10.1186/s13023-023-02982-1, PubMed 38042867

Dahll LK, Westbye AB, Vinorum K, Sejersted Y, Barøy T, Thorsby PM, Hammerstad SS (2023)
Clinical and Biochemical Characteristics of Untreated Adult Patients With Resistance to Thyroid Hormone Alpha
J Endocr Soc, 7 (8), bvad089
DOI 10.1210/jendso/bvad089, PubMed 37469961

Jacob P, Lindelöf H, Rustad CF, Sutton VR, Moosa S, Udupa P, Hammarsjö A, Bhavani GS, Batkovskyte D, Tveten K, Dalal A, Horemuzova E, Nordgren A, Tham E, Shah H, Merckoll E, Orellana L, Nishimura G, Girisha KM, Grigelioniene G (2023)
Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13
NPJ Genom Med, 8 (1), 39
DOI 10.1038/s41525-023-00380-x, PubMed 37993442

Jamali A, Kristensen E, Tangeraas T, Arntsen V, Sikiric A, Kupliauskiene G, Myren-Svelstad S, Berland S, Sejersted Y, Gerstner T, Hassel B, Bindoff LA, Brodtkorb E (2023)
The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study
Epilepsy Res, 190, 107099
DOI 10.1016/j.eplepsyres.2023.107099, PubMed 36731270

Jamali A, Kristensen E, Tangeraas T, Arntsen V, Sikiric A, Kupliauskiene G, Myren-Svelstad S, Berland S, Sejersted Y, Gerstner T, Hassel B, Bindoff LA, Brodtkorb E (2023)
Corrigendum to "The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study" [Epilepsy Res. 190 (2023) 107099]
Epilepsy Res, 198, 107113
DOI 10.1016/j.eplepsyres.2023.107113, PubMed 36906427

Jørgensen OJ, Steineger JE, Hillarp A, Pareli Wåland E, Holme PA, Heimdal K, Dheyauldeen S (2023)
Elevated FVIII levels in hereditary hemorrhagic telangiectasia: Implications for clinical management
Laryngoscope Investig Otolaryngol, 9 (1), e1196
DOI 10.1002/lio2.1196, PubMed 38362186

Misceo D, Senaratne LDS, Mero IL, Sundaram AYM, Bjørnstad PM, Szczałuba K, Gasperowicz P, Kamien B, Nedregaard B, Holmgren A, Strømme P, Frengen E (2023)
Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome
Genes (Basel), 14 (11)
DOI 10.3390/genes14111985, PubMed 38002928

Ververi A, Zagaglia S, Menzies L, Baptista J, Caswell R, Baulac S, Ellard S, Lynch S, Genomics England Research Consortium, Jacques TS, Chawla MS, Heier M, Kulseth MA, Mero IL, Våtevik AK, Kraoua I, Ben Rhouma H, Ben Younes T, Miladi Z, Ben Youssef Turki I, Jones WD, Clement E, Eltze C, Mankad K, Merve A et al. (2023)
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria
Hum Mol Genet, 32 (4), 580-594
DOI 10.1093/hmg/ddac225, PubMed 36067010

Wiedmann MKH, Steinsvåg IV, Dinh T, Vigeland MD, Larsson PG, Hjorthaug H, Sheng Y, Mero IL, Selmer KK (2023)
Whole-exome sequencing in moyamoya patients of Northern-European origin identifies gene variants involved in Nitric Oxide metabolism: A pilot study
Brain Spine, 3, 101745
DOI 10.1016/j.bas.2023.101745, PubMed 37383439

Publications 2022

Absalom NL, Liao VWY, Johannesen KMH, Gardella E, Jacobs J, Lesca G, Gokce-Samar Z, Arzimanoglou A, Zeidler S, Striano P, Meyer P, Benkel-Herrenbrueck I, Mero IL, Rummel J, Chebib M, Møller RS, Ahring PK (2022)
Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies
Nat Commun, 13 (1), 1822
DOI 10.1038/s41467-022-29280-x, PubMed 35383156

Ahring PK, Liao VWY, Gardella E, Johannesen KM, Krey I, Selmer KK, Stadheim BF, Davis H, Peinhardt C, Koko M, Coorg RK, Syrbe S, Bertsche A, Santiago-Sim T, Diemer T, Fenger CD, Platzer K, Eichler EE, Lerche H, Lemke JR, Chebib M, Møller RS (2022)
Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy
Brain, 145 (4), 1299-1309
DOI 10.1093/brain/awab391, PubMed 34633442

Celse T, Tingaud-Sequeira A, Dieterich K, Siegfried G, Lecaignec C, Bouneau L, Fannemel M, Salaun G, Laffargue F, Martinez G, Satre V, Vieville G, Bidart M, Soussi Zander C, Turesson AC, Splitt M, Reboul D, Chiesa J, Khau Van Kien P, Godin M, Gruchy N, Goel H, Palmer E, Demetriou K, Shalhoub C et al. (2022)
OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum
J Med Genet, 60 (6), 620-626
DOI 10.1136/jmg-2022-108678, PubMed 36368868

Hardcastle A, Berry AM, Campbell IM, Zhao X, Liu P, Gerard AE, Rosenfeld JA, Sisoudiya SD, Hernandez-Garcia A, Loddo S, Di Tommaso S, Novelli A, Dentici ML, Capolino R, Digilio MC, Graziani L, Rustad CF, Neas K, Ferrero GB, Brusco A, Di Gregorio E, Wellesley D, Beneteau C, Joubert M, Van Den Bogaert K et al. (2022)
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data
Am J Med Genet A, 188 (10), 2958-2968
DOI 10.1002/ajmg.a.62919, PubMed 35904974

Johannessen J, Nærland T, Hope S, Torske T, Kaale A, Wirgenes KV, Malt E, Djurovic S, Rietschel M, Andreassen OA (2022)
Correction to: Attitudes among parents of persons with autism spectrum disorder towards information about genetic risk and future health
Eur J Hum Genet, 30 (10), 1198
DOI 10.1038/s41431-021-01021-6, PubMed 34903869

Ratajska A, Vigeland MD, Wirgenes KV, Krohg-Sørensen K, Paus B (2022)
The use of segregation analysis in interpretation of sequence variants in SMAD3: A case report
Mol Genet Genomic Med, 11 (2), e2107
DOI 10.1002/mgg3.2107, PubMed 36495030

Ritter AL, Gold J, Hayashi H, Ackermann AM, Hanke S, Skraban C, Cuddapah S, Bhoj E, Li D, Kuroda Y, Wen J, Takeda R, Bibb A, El Chehadeh S, Piton A, Ohl J, Kukolich MK, Nagasaki K, Kato K, Ogi T, Bhatti T, Russo P, Krock B, Murrell JR, Sullivan JA et al. (2022)
Expanding the phenotypic spectrum of ARCN1-related syndrome
Genet Med, 24 (6), 1227-1237
DOI 10.1016/j.gim.2022.02.005, PubMed 35300924

Rustad CF, Prescott TE, Merckoll E, Kristensen E, Salvador CL, Nordgarden H, Tveten K (2022)
Phenotypic expansion of ARSK-related mucopolysaccharidosis
Am J Med Genet A, 188 (11), 3369-3373
DOI 10.1002/ajmg.a.62934, PubMed 35959767

Rustad CF, Tveten K, Braathen GJ, Merckoll E, Kirkhus E, Fossmo HL, Ørstavik K (2022)
A woman in her fifties with chronic muscle weakness
Tidsskr Nor Laegeforen, 142 (1)
DOI 10.4045/tidsskr.21.0038, PubMed 35026081

Rustad CF, Tveten K, Braathen GJ, Merckoll E, Kirkhus E, Fossmo HL, Ørstavik K (2022)
[Correction: A woman in her fifties with chronic muscle weakness]
Tidsskr Nor Laegeforen, 142 (2)
DOI 10.4045/tidsskr.22.0032, PubMed 35107936

Seim BE, Holt MF, Ratajska A, Michelsen A, Ringseth MM, Halvorsen BE, Skjelland M, Kvitting JP, Lundblad R, Krohg-Sørensen K, Osnes LTN, Aukrust P, Paus B, Ueland T (2022)
Markers of extracellular matrix remodeling and systemic inflammation in patients with heritable thoracic aortic diseases
Front Cardiovasc Med, 9, 1073069
DOI 10.3389/fcvm.2022.1073069, PubMed 36606286

Solhaug TS, Tjønnfjord GE, Bjørgo K, Kildahl-Andersen O (2022)
A family with cytotoxic T-lymphocyte-associated protein 4 haploinsufficiency presenting with aplastic anaemia
BMJ Case Rep, 15 (2)
DOI 10.1136/bcr-2021-247653, PubMed 35228238

Timberlake AT, Kiziltug E, Jin SC, Nelson-Williams C, Loring E, Yale Center for Genome Analysis, Allocco A, Marlier A, Banka S, Stuart H, Passos-Buenos MR, Rosa R, Rogatto SR, Tonne E, Stiegler AL, Boggon TJ, Alperovich M, Steinbacher D, Staffenberg DA, Flores RL, Persing JA, Kahle KT, Lifton RP (2022)
De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis
Hum Genet, 142 (1), 21-32
DOI 10.1007/s00439-022-02477-2, PubMed 35997807

Tønne E, Due-Tønnessen BJ, Vigeland MD, Amundsen SS, Ribarska T, Åsten PM, Sheng Y, Helseth E, Gilfillan GD, Mero IL, Heimdal KR (2022)
Whole-exome sequencing in syndromic craniosynostosis increases diagnostic yield and identifies candidate genes in osteogenic signaling pathways
Am J Med Genet A, 188 (5), 1464-1475
DOI 10.1002/ajmg.a.62663, PubMed 35080095

Werner MCF, Wirgenes KV, Shadrin A, Lunding SH, Rødevand L, Hjell G, Ormerod MBEG, Haram M, Agartz I, Djurovic S, Melle I, Aukrust P, Ueland T, Andreassen OA, Steen NE (2022)
Immune marker levels in severe mental disorders: associations with polygenic risk scores of related mental phenotypes and psoriasis
Transl Psychiatry, 12 (1), 38
DOI 10.1038/s41398-022-01811-6, PubMed 35082268

Werner MCF, Wirgenes KV, Shadrin AA, Lunding SH, Rødevand L, Hjell G, Ormerod MBEG, Haram M, Agartz I, Djurovic S, Melle I, Aukrust P, Ueland T, Andreassen OA, Steen NE (2022)
Limited association between infections, autoimmune disease and genetic risk and immune activation in severe mental disorders
Prog Neuropsychopharmacol Biol Psychiatry, 116, 110511
DOI 10.1016/j.pnpbp.2022.110511, PubMed 35063598

Publications 2021

Berland S, Rustad CF, Bentsen MHL, Wollen EJ, Turowski G, Johansson S, Houge G, Haukanes BI (2021)
Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith-Wiedemann spectrum features
Cold Spring Harb Mol Case Stud, 7 (6)
DOI 10.1101/mcs.a006113, PubMed 34615670

Frič R, Nedregaard B, Heimdal KR, Weber C, Due-Tønnessen BJ (2021)
Ruptured Aneurysm of the Anterior Communicating Artery in a Newborn: A Case Report and Review of the Literature
J Neurol Surg A Cent Eur Neurosurg, 84 (4), 399-403
DOI 10.1055/s-0041-1739209, PubMed 34897611

Glinton KE, Hurst ACE, Bowling KM, Cristian I, Haynes D, Adstamongkonkul D, Schnappauf O, Beck DB, Brewer C, Parikh AS, Shinde DN, Donaldson A, Brautbar A, Koene S, van Haeringen A, Piton A, Capri Y, Furlan M, Gardella E, Møller RS, van de Beek I, Zuurbier L, Lakeman P, Bayat A, Martinez J et al. (2021)
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
Am J Med Genet A, 185 (5), 1366-1378
DOI 10.1002/ajmg.a.62102, PubMed 33522091

Harris HK, Nakayama T, Lai J, Zhao B, Argyrou N, Gubbels CS, Soucy A, Genetti CA, Suslovitch V, Rodan LH, Tiller GE, Lesca G, Gripp KW, Asadollahi R, Hamosh A, Applegate CD, Turnpenny PD, Simon MEH, Volker-Touw CML, Gassen KLIV, Binsbergen EV, Pfundt R, Gardeitchik T, Vries BBA, Immken LL et al. (2021)
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
Genet Med, 23 (6), 1028-1040
DOI 10.1038/s41436-021-01114-z, PubMed 33658631

Johannessen J, Nærland T, Hope S, Torske T, Kaale A, Wirgenes KV, Malt E, Djurovic S, Rietschel M, Andreassen OA (2021)
Attitudes among parents of persons with autism spectrum disorder towards information about genetic risk and future health
Eur J Hum Genet, 30 (10), 1138-1146
DOI 10.1038/s41431-021-00966-y, PubMed 34776508

Paus B (2021)
WHAT DO WE WANT WITH THE FETAL DIAGNOSIS? Ethics of fetal diagnostics
Tidsskr. Nor. Laegeforen., 141 (12), 1217

Pihlstrøm HK, Weedon-Fekjær MS, Bjerkely BL, von der Lippe C, Ørstavik K, Mathisen P, Heimdal K, Jenssen TG, Dahle DO, Solberg OK, Sigurdardottir S (2021)
Health-related quality of life in Norwegian adults with Fabry disease: Disease severity, pain, fatigue and psychological distress
JIMD Rep, 62 (1), 56-69
DOI 10.1002/jmd2.12240, PubMed 34765399

Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV et al. (2021)
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
Genet Med, 23 (10), 1922-1932
DOI 10.1038/s41436-021-01232-8, PubMed 34163037

Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV et al. (2021)
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
Genet Med, 23 (10), 2016
DOI 10.1038/s41436-021-01306-7, PubMed 34522029

Rots D, Chater-Diehl E, Dingemans AJM, Goodman SJ, Siu MT, Cytrynbaum C, Choufani S, Hoang N, Walker S, Awamleh Z, Charkow J, Meyn S, Pfundt R, Rinne T, Gardeitchik T, de Vries BBA, Deden AC, Leenders E, Kwint M, Stumpel CTRM, Stevens SJC, Vermeulen JR, van Harssel JVT, Bosch DGM, van Gassen KLI et al. (2021)
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
Am J Hum Genet, 108 (6), 1053-1068
DOI 10.1016/j.ajhg.2021.04.008, PubMed 33909990

Rustad CF, Tveten K, Prescott TE, Bjerkeseth PO, Bredrup C, Pfeiffer HCV (2021)
Positive response to imatinib in PDGFRB-related Kosaki overgrowth syndrome
Am J Med Genet A, 185 (8), 2597-2601
DOI 10.1002/ajmg.a.62264, PubMed 33979467

Sigurdardottir S, Bjerkely B, Jenssen TG, Mathisen P, von der Lippe C, Ørstavik K, Heimdal K, Dahle DO, Weedon-Fekjær MS, Solberg O, Pihlstrøm HK (2021)
The impact of demographic and clinical characteristics on the trajectories of health-related quality of life among patients with Fabry disease
Orphanet J Rare Dis, 16 (1), 427
DOI 10.1186/s13023-021-02066-y, PubMed 34641933

Stang A, McMaster ML, Sesterhenn IA, Rapley E, Huddart R, Heimdal K, McGlynn KA, Oosterhuis JW, Greene MH (2021)
Histological Features of Sporadic and Familial Testicular Germ Cell Tumors Compared and Analysis of Age-Related Changes of Histology
Cancers (Basel), 13 (7)
DOI 10.3390/cancers13071652, PubMed 33916078

Sørensen IW, Glad R, Houge G, Blomhoff A, Haug MG, Steen VM (2021)
[More accurate fetal diagnostics]
Tidsskr Nor Laegeforen, 141 (2021-14)
DOI 10.4045/tidsskr.21.0424, PubMed 34641655

Sørensen IW, Glad R, Houge G, Blomhoff A, Haug MG, Steen VM (2021)
[Correction: More accurate fetal diagnostics]
Tidsskr Nor Laegeforen, 141 (16)
DOI 10.4045/tidsskr.21.0728, PubMed 34758600

Voisin N, Schnur RE, Douzgou S, Hiatt SM, Rustad CF, Brown NJ, Earl DL, Keren B, Levchenko O, Geuer S, Verheyen S, Johnson D, Zarate YA, Hančárová M, Amor DJ, Bebin EM, Blatterer J, Brusco A, Cappuccio G, Charrow J, Chatron N, Cooper GM, Courtin T, Dadali E, Delafontaine J et al. (2021)
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy
Am J Hum Genet, 108 (5), 857-873
DOI 10.1016/j.ajhg.2021.04.001, PubMed 33961779

Whitman MC, Barry BJ, Robson CD, Facio FM, Van Ryzin C, Chan WM, Lehky TJ, Thurm A, Zalewski C, King KA, Brewer C, Almpani K, Lee JS, Delaney A, FitzGibbon EJ, Lee PR, Toro C, Paul SM, Abdul-Rahman OA, Webb BD, Jabs EW, Moller HU, Larsen DA, Antony JH, Troedson C et al. (2021)
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy
Hum Genet, 140 (12), 1709-1731
DOI 10.1007/s00439-021-02379-9, PubMed 34652576

Publications 2020

Bahrami S, Steen NE, Shadrin A, O'Connell K, Frei O, Bettella F, Wirgenes KV, Krull F, Fan CC, Dale AM, Smeland OB, Djurovic S, Andreassen OA (2020)
Shared Genetic Loci Between Body Mass Index and Major Psychiatric Disorders: A Genome-wide Association Study
JAMA Psychiatry, 77 (5), 503-512
DOI 10.1001/jamapsychiatry.2019.4188, PubMed 31913414

Brunet T, McWalter K, Mayerhanser K, Anbouba GM, Armstrong-Javors A, Bader I, Baugh E, Begtrup A, Bupp CP, Callewaert BL, Cereda A, Cousin MA, Del Rey Jimenez JC, Demmer L, Dsouza NR, Fleischer N, Gavrilova RH, Ghate S, Graf E, Green A, Green SR, Iascone M, Kdissa A, Klee D, Klee EW et al. (2020)
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder
Genet Med, 23 (2), 384-395
DOI 10.1038/s41436-020-00993-y, PubMed 33173220

Chen CA, Crutcher E, Gill H, Nelson TN, Robak LA, Jongmans MCJ, Pfundt R, Prasad C, Berard RA, Fannemel M, Frengen E, Misceo D, Ramsey K, Yang Y, Schaaf CP, Wang X (2020)
The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome
Hum Mutat, 41 (10), 1738-1744
DOI 10.1002/humu.24075, PubMed 32643838

Faughnan ME, Mager JJ, Hetts SW, Palda VA, Lang-Robertson K, Buscarini E, Deslandres E, Kasthuri RS, Lausman A, Poetker D, Ratjen F, Chesnutt MS, Clancy M, Whitehead KJ, Al-Samkari H, Chakinala M, Conrad M, Cortes D, Crocione C, Darling J, de Gussem E, Derksen C, Dupuis-Girod S, Foy P, Geisthoff U et al. (2020)
Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia
Ann Intern Med, 173 (12), 989-1001
DOI 10.7326/M20-1443, PubMed 32894695

Fazio P, Fitzer-Attas CJ, Mrzljak L, Bronzova J, Nag S, Warner JH, Landwehrmeyer B, Al-Tawil N, Halldin C, Forsberg A, Ware J, Dilda V, Wood A, Sampaio C, Varrone A, Svenningsson P, Paucar M, Sundblom J, Nyholm D, Widner H, Heiberg A, Frich J, Nielsen J, Hjermind L, Roos R et al. (2020)
PET molecular imaging of phosphodiesterase 10A: An early biomarker of Huntington's disease progression
Mov. Disord., 35 (4), 606-615
DOI 10.1002/mds.27963

Fredwall SO, Steen U, de Vries O, Rustad CF, Eggesbø HB, Weedon-Fekjær H, Lidal IB, Savarirayan R, Månum G (2020)
High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study
Orphanet J Rare Dis, 15 (1), 123
DOI 10.1186/s13023-020-01397-6, PubMed 32450891

Fredwall SO, Steen U, de Vries O, Rustad CF, Eggesbø HB, Weedon-Fekjær H, Lidal IB, Savarirayan R, Månum G (2020)
Correction to: High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study
Orphanet J Rare Dis, 15 (1), 342
DOI 10.1186/s13023-020-01636-w, PubMed 33287852

Henriksen MW, Breck H, Sejersted Y, Diseth T, von Tetzchner S, Paus B, Skjeldal OH (2020)
Genetic and clinical variations in a Norwegian sample diagnosed with Rett syndrome
Brain Dev, 42 (7), 484-495
DOI 10.1016/j.braindev.2020.03.008, PubMed 32336485

Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy JL, McCormick E, Hakonarson H, Falk MJ, Li D, Blackburn P, Klee E et al. (2020)
Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants
Genet Med, 22 (11), 1920
DOI 10.1038/s41436-020-00944-7, PubMed 32814847

Rana MU, Østhus AA, Heimdal K, Jebsen P, Revheim MR, Osnes TA (2020)
Head and neck paragangliomas in Norway, importance of genetics, updated diagnostic workup and treatment
Acta Otolaryngol, 141 (3), 303-308
DOI 10.1080/00016489.2020.1845397, PubMed 33320715

Smeland OB, Shadrin A, Bahrami S, Broce I, Tesli M, Frei O, Wirgenes KV, O'Connell KS, Krull F, Bettella F, Steen NE, Sugrue L, Wang Y, Svenningsson P, Sharma M, Pihlstrøm L, Toft M, O'Donovan M, Djurovic S, Desikan R, Dale AM, Andreassen OA (2020)
Genome-wide Association Analysis of Parkinson's Disease and Schizophrenia Reveals Shared Genetic Architecture and Identifies Novel Risk Loci
Biol Psychiatry, 89 (3), 227-235
DOI 10.1016/j.biopsych.2020.01.026, PubMed 32201043

Sorensen IW, Prescott T, Rustad CF, Blinkenberg EO, von der Lippe C (2020)
Gene panel testing
Tidsskr. Nor. Laegeforen., 140 (3), 224-227

Sumathipala D, Strømme P, Gilissen C, Einarsen IH, Bjørndalen HJ, Server A, Corominas J, Hassel B, Fannemel M, Misceo D, Frengen E (2020)
Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report
BMC Med Genet, 21 (1), 96
DOI 10.1186/s12881-020-01024-y, PubMed 32381069

Tillerås KH, Kjoelaas SH, Dramstad E, Feragen KB, von der Lippe C (2020)
Psychological reactions to predictive genetic testing for Huntington's disease: A qualitative study
J Genet Couns, 29 (6), 1093-1105
DOI 10.1002/jgc4.1245, PubMed 32162754

Tønne E, Due-Tønnessen BJ, Mero IL, Wiig US, Kulseth MA, Vigeland MD, Sheng Y, von der Lippe C, Tveten K, Meling TR, Helseth E, Heimdal KR (2020)
Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis
Eur J Hum Genet, 29 (6), 920-929
DOI 10.1038/s41431-020-00788-4, PubMed 33288889

Tønne E, Due-Tønnessen BJ, Wiig U, Stadheim BF, Meling TR, Helseth E, Heimdal KR (2020)
Epidemiology of craniosynostosis in Norway
J Neurosurg Pediatr, 26 (1), 68-75
DOI 10.3171/2020.1.PEDS2051, PubMed 32244202

Werner MCF, Wirgenes KV, Haram M, Bettella F, Lunding SH, Rødevand L, Hjell G, Agartz I, Djurovic S, Melle I, Andreassen OA, Steen NE (2020)
Indicated association between polygenic risk score and treatment-resistance in a naturalistic sample of patients with schizophrenia spectrum disorders
Schizophr Res, 218, 55-62
DOI 10.1016/j.schres.2020.03.006, PubMed 32171635

Publications 2019

Baliakas P, Tesi B, Wartiovaara-Kautto U, Stray-Pedersen A, Friis LS, Dybedal I, Hovland R, Jahnukainen K, Raaschou-Jensen K, Ljungman P, Rustad CF, Lautrup CK, Kilpivaara O, Kittang AO, Grønbæk K, Cammenga J, Hellström-Lindberg E, Andersen MK (2019)
Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults: Recommendations for Genetic Diagnosis, Clinical Management and Follow-up
Hemasphere, 3 (6), e321
DOI 10.1097/HS9.0000000000000321, PubMed 31976490

Bownass L, Abbs S, Armstrong R, Baujat G, Behzadi G, Berentsen RD, Burren C, Calder A, Cormier-Daire V, Newbury-Ecob R, Foulds N, Juliusson PB, Kant SG, Lefroy H, Mehta SG, Merckoll E, Michot C, Monsell F, Offiah AC, Richards A, Rosendahl K, Rustad CF, Shears D, Tveten K, Wellesley D et al. (2019)
PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases
Am J Med Genet A, 179 (9), 1884-1894
DOI 10.1002/ajmg.a.61282, PubMed 31313512

Bratlie S, Halvorsen K, Myskja BK, Mellegård H, Bjorvatn C, Frost P, Heiene G, Hofmann B, Holst-Jensen A, Holst-Larsen T, Malnes RS, Paus B, Sandvig B, Sjøli SI, Skarstein B, Thorseth MB, Vagstad N, Våge DI, Borge OJ (2019)
A novel governance framework for GMO: A tiered, more flexible regulation for GMOs would help to stimulate innovation and public debate
EMBO Rep, 20 (5)
DOI 10.15252/embr.201947812, PubMed 31015362

Böker T, Vanem TT, Pripp AH, Rand-Hendriksen S, Paus B, Smith HJ, Lundby R (2019)
Dural ectasia in Marfan syndrome and other hereditary connective tissue disorders: a 10-year follow-up study
Spine J, 19 (8), 1412-1421
DOI 10.1016/j.spinee.2019.04.010, PubMed 30998996

Dyment DA, Terhal PA, Rustad CF, Tveten K, Griffith C, Jayakar P, Shinawi M, Ellingwood S, Smith R, van Gassen K, McWalter K, Innes AM, Lines MA (2019)
De novo substitutions of TRPM3 cause intellectual disability and epilepsy
Eur J Hum Genet, 27 (10), 1611-1618
DOI 10.1038/s41431-019-0462-x, PubMed 31278393

Henriksen MW, Breck H, von Tetzchner S, Paus B, Skjeldal OH (2019)
Medical Issues in Adults with Rett Syndrome - A National Survey
Dev Neurorehabil, 23 (2), 106-112
DOI 10.1080/17518423.2019.1646341, PubMed 31342829

Holtan JP, Selmer KK, Heimdal KR, Bragadóttir R (2019)
Inherited retinal disease in Norway - a characterization of current clinical and genetic knowledge
Acta Ophthalmol, 98 (3), 286-295
DOI 10.1111/aos.14218, PubMed 31429209

Marbach F, Rustad CF, Riess A, Đukić D, Hsieh TC, Jobani I, Prescott T, Bevot A, Erger F, Houge G, Redfors M, Altmueller J, Stokowy T, Gilissen C, Kubisch C, Scarano E, Mazzanti L, Fiskerstrand T, Krawitz PM, Lessel D, Netzer C (2019)
The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping
Am J Hum Genet, 104 (4), 749-757
DOI 10.1016/j.ajhg.2019.02.021, PubMed 30905398

Pope MK, Ratajska A, Johnsen H, Rypdal KB, Sejersted Y, Paus B (2019)
Diagnostics of Hereditary Connective Tissue Disorders by Genetic Next-Generation Sequencing
Genet Test Mol Biomarkers, 23 (11), 783-790
DOI 10.1089/gtmb.2019.0064, PubMed 31638417

Steineger J, Geirdal AØ, Osnes T, Heimdal KR, Dheyauldeen S (2019)
Intranasal bevacizumab injections improve quality of life in HHT patients
Laryngoscope, 130 (5), E284-E288
DOI 10.1002/lary.28179, PubMed 31287573

Vals MA, Ashikov A, Ilves P, Loorits D, Zeng Q, Barone R, Huijben K, Sykut-Cegielska J, Diogo L, Elias AF, Greenwood RS, Grunewald S, van Hasselt PM, van de Kamp JM, Mancini G, Okninska A, Pajusalu S, Rudd PM, Rustad CF, Salvarinova R, de Vries BBA, Wolf NI, EPGEN Study, Ng BG, Freeze HH et al. (2019)
Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients
J Inherit Metab Dis, 42 (3), 553-564
DOI 10.1002/jimd.12055, PubMed 30746764

Publications 2018

Bakke KA, Howlin P, Retterstøl L, Kanavin ØJ, Heiberg A, Nærland T (2018)
Effect of epilepsy on autism symptoms in Angelman syndrome
Mol Autism, 9, 2
DOI 10.1186/s13229-017-0185-1, PubMed 29340132

Cockerell I, Guenin M, Heimdal K, Bjørnvold M, Selmer KK, Rouvière O (2018)
Renal manifestations of tuberous sclerosis complex: patients' and parents' knowledge and routines for renal follow-up - a questionnaire study
BMC Nephrol, 19 (1), 39
DOI 10.1186/s12882-018-0835-3, PubMed 29439672

Falkenberg-Jensen B, Heimdal KR, Høgevold HE, Jablonski GE, Due-Tønnessen BJ, Hopp E (2018)
Abnormally wide eustachian tubes involving the sphenoid bone: A collection
Laryngoscope Investig Otolaryngol, 3 (3), 214-217
DOI 10.1002/lio2.158, PubMed 30062137

Fjermestad KW, Nyhus L, Kanavin ØJ, Heiberg A, Hoxmark LB (2018)
Health Survey of Adults with Neurofibromatosis 1 Compared to Population Study Controls
J Genet Couns, 27 (5), 1102-1110
DOI 10.1007/s10897-018-0229-5, PubMed 29429039

Henriksen MW, Breck H, von Tetzchner S, Paus B, Skjeldal OH, Brodtkorb E (2018)
Epilepsy in classic Rett syndrome: Course and characteristics in adult age
Epilepsy Res, 145, 134-139
DOI 10.1016/j.eplepsyres.2018.06.012, PubMed 29966812

Henriksen MW, Ravn K, Paus B, von Tetzchner S, Skjeldal OH (2018)
De novo mutations in SCN1A are associated with classic Rett syndrome: a case report
BMC Med Genet, 19 (1), 184
DOI 10.1186/s12881-018-0700-z, PubMed 30305042

Heramb C, Wangensteen T, Grindedal EM, Ariansen SL, Lothe S, Heimdal KR, Mæhle L (2018)
BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway
Hered Cancer Clin Pract, 16, 3
DOI 10.1186/s13053-017-0085-6, PubMed 29339979

Jørstad ØK, Ødegaard EM, Heimdal KR, Kerty E (2018)
Leber Hereditary Optic Neuropathy Caused by a Mitochondrial DNA 10663T>C Point Mutation and Its Response to Idebenone Treatment
J Neuroophthalmol, 38 (1), 129-131
DOI 10.1097/WNO.0000000000000598, PubMed 29210930

Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy JL, McCormick E, Hakonarson H, Falk MJ, Li D, Blackburn P, Klee E et al. (2018)
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants
Genet Med, 21 (4), 850-860
DOI 10.1038/s41436-018-0259-2, PubMed 30245513

Makrythanasis P, Maroofian R, Stray-Pedersen A, Musaev D, Zaki MS, Mahmoud IG, Selim L, Elbadawy A, Jhangiani SN, Coban Akdemir ZH, Gambin T, Sorte HS, Heiberg A, McEvoy-Venneri J, James KN, Stanley V, Belandres D, Guipponi M, Santoni FA, Ahangari N, Tara F, Doosti M, Iwaszkiewicz J, Zoete V, Backe PH et al. (2018)
Biallelic variants in KIF14 cause intellectual disability with microcephaly
Eur J Hum Genet, 26 (3), 330-339
DOI 10.1038/s41431-017-0088-9, PubMed 29343805

Menke LA, DDD study, Gardeitchik T, Hammond P, Heimdal KR, Houge G, Hufnagel SB, Ji J, Johansson S, Kant SG, Kinning E, Leon EL, Newbury-Ecob R, Paolacci S, Pfundt R, Ragge NK, Rinne T, Ruivenkamp C, Saitta SC, Sun Y, Tartaglia M, Terhal PA, van Essen AJ, Vigeland MD, Xiao B et al. (2018)
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome
Am J Med Genet A, 176 (4), 862-876
DOI 10.1002/ajmg.a.38626, PubMed 29460469

Navarro-Fernández J, Eugenia de la Morena-Barrio M, Martínez-Alonso E, Dybedal I, Toderici M, Bohdan N, Miñano A, Heimdal K, Abildgaard U, Martínez-Menárguez JÁ, Corral J, Vicente V (2018)
Biochemical and cellular consequences of the antithrombin p.Met1? mutation identified in a severe thrombophilic family
Oncotarget, 9 (69), 33202-33214
DOI 10.18632/oncotarget.26059, PubMed 30237862

Paus B (2018)
The right to know amyotrophic lateral sclerosis Reply
Tidsskr. Nor. Laegeforen., 138 (16), 1502-1503

Paus B (2018)
Perhaps test, often explore, always counsel
Tidsskr Nor Laegeforen, 138 (13)
DOI 10.4045/tidsskr.18.0574, PubMed 30180484

Paus B (2018)
[B. Paus responds]
Tidsskr Nor Laegeforen, 138 (16)
DOI 10.4045/tidsskr.18.0735, PubMed 30344325

Rama M, Duflos C, Melki I, Bessis D, Bonhomme A, Martin H, Doummar D, Valence S, Rodriguez D, Carme E, Genevieve D, Heimdal K, Insalaco A, Franck N, Queyrel-Moranne V, Tieulie N, London J, Uettwiller F, Georgin-Lavialle S, Belot A, Koné-Paut I, Hentgen V, Boursier G, Touitou I, Sarrabay G (2018)
A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience
Eur J Hum Genet, 26 (7), 960-971
DOI 10.1038/s41431-018-0130-6, PubMed 29681619

Riise N, Lindberg BR, Kulseth MA, Fredwall SO, Lundby R, Estensen ME, Drolsum L, Merckoll E, Krohg-Sørensen K, Paus B (2018)
Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report
BMC Med Genet, 19 (1), 155
DOI 10.1186/s12881-018-0671-0, PubMed 30170566

Rydning SL, Dudesek A, Rimmele F, Funke C, Krüger S, Biskup S, Vigeland MD, Hjorthaug HS, Sejersted Y, Tallaksen C, Selmer KK, Kamm C (2018)
A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia
Eur J Neurol, 25 (7), 943-e71
DOI 10.1111/ene.13625, PubMed 29528531

Steineger J, Osnes T, Heimdal K, Dheyauldeen S (2018)
Long-term experience with intranasal bevacizumab therapy
Laryngoscope, 128 (10), 2237-2244
DOI 10.1002/lary.27147, PubMed 29469958

Steineger J, Ueland T, Aukrust P, Michelsen A, Osnes T, Heimdal K, Dheyauldeen S (2018)
Pentraxin 3 level is elevated in hereditary hemorrhagic telangiectasia and reflects the severity of disease-associated epistaxis
Laryngoscope, 129 (1), E44-E49
DOI 10.1002/lary.27548, PubMed 30329172

Tonne E (2018)
COLOR ATLAS OF GENETICS
Tidsskr. Nor. Laegeforen., 138 (14), 1368

Vanem TT, Geiran OR, Krohg-Sørensen K, Røe C, Paus B, Rand-Hendriksen S (2018)
Survival, causes of death, and cardiovascular events in patients with Marfan syndrome
Mol Genet Genomic Med, 6 (6), 1114-1123
DOI 10.1002/mgg3.489, PubMed 30393980

Yuan B, Neira J, Pehlivan D, Santiago-Sim T, Song X, Rosenfeld J, Posey JE, Patel V, Jin W, Adam MP, Baple EL, Dean J, Fong CT, Hickey SE, Hudgins L, Leon E, Madan-Khetarpal S, Rawlins L, Rustad CF, Stray-Pedersen A, Tveten K, Wenger O, Diaz J, Jenkins L, Martin L et al. (2018)
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies
Genet Med, 21 (3), 663-675
DOI 10.1038/s41436-018-0085-6, PubMed 30158690

Publications 2017

Bjørgo K, Fjær R, Mørk HH, Ferdinandusse S, Falkenberg KD, Waterham HR, Øye AM, Sikiric A, Amundsen SS, Kulseth MA, Selmer K (2017)
Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder
Mol Genet Metab, 121 (4), 325-328
DOI 10.1016/j.ymgme.2017.06.004, PubMed 28673549

Cockerell I, Guenin M, Heimdal K, Bjørnvold M, Selmer KK, Rouvière O (2017)
Prevalence of Renal Angiomyolipomas and Spontaneous Bleeding Related to Angiomyolipomas in Tuberous Sclerosis Complex Patients in France and Norway-a Questionnaire Study
Urology, 104, 70-76
DOI 10.1016/j.urology.2017.02.023, PubMed 28232177

Hamilton MJ, Caswell RC, Canham N, Cole T, Firth HV, Foulds N, Heimdal K, Hobson E, Houge G, Joss S, Kumar D, Lampe AK, Maystadt I, McKay V, Metcalfe K, Newbury-Ecob R, Park SM, Robert L, Rustad CF, Wakeling E, Wilkie AOM, Study TDDD, Twigg SRF, Suri M (2017)
Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability
J Med Genet, 55 (1), 28-38
DOI 10.1136/jmedgenet-2017-104620, PubMed 29021403

Holm I, Spildrejorde M, Stadheim B, Eiklid KL, Samarakoon PS (2017)
Whole exome sequencing of sporadic patients with Currarino Syndrome: A report of three trios
Gene, 624, 50-55
DOI 10.1016/j.gene.2017.04.030, PubMed 28456592

Johannessen J, Nærland T, Hope S, Torske T, Høyland AL, Strohmaier J, Heiberg A, Rietschel M, Djurovic S, Andreassen OA (2017)
Parents' Attitudes toward Clinical Genetic Testing for Autism Spectrum Disorder-Data from a Norwegian Sample
Int J Mol Sci, 18 (5)
DOI 10.3390/ijms18051078, PubMed 28524073

Krohg-Sørensen K, Lingaas PS, Lundblad R, Seem E, Paus B, Geiran OR (2017)
Cardiovascular surgery in Loeys-Dietz syndrome types 1-4
Eur J Cardiothorac Surg, 52 (6), 1125-1131
DOI 10.1093/ejcts/ezx147, PubMed 28541520

Mero IL, Mørk HH, Sheng Y, Blomhoff A, Opheim GL, Erichsen A, Vigeland MD, Selmer KK (2017)
Homozygous KIDINS220 loss-of-function variants in fetuses with cerebral ventriculomegaly and limb contractures
Hum Mol Genet, 26 (19), 3792-3796
DOI 10.1093/hmg/ddx263, PubMed 28934391

Pakdaman Y, Sanchez-Guixé M, Kleppe R, Erdal S, Bustad HJ, Bjørkhaug L, Haugarvoll K, Tzoulis C, Heimdal K, Knappskog PM, Johansson S, Aukrust I (2017)
In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins
Biosci Rep, 37 (2)
DOI 10.1042/BSR20170251, PubMed 28396517

Rustad CF, Dahl HM, Bowers NL, Sitek JC, Heiberg A, Huson S, Prescott T, Evans DGR (2017)
Neurofibromatosis type 2: Multiple intra-dermal tumors in a toddler
Am J Med Genet A, 173 (5), 1447-1449
DOI 10.1002/ajmg.a.38177, PubMed 28371307

Schinagl C, Melum GR, Rødningen OK, Bjørgo K, Andresen JH (2017)
Severe persistent pulmonary hypertension of the newborn and dysmorphic features in neonate with a deletion involving TWIST1 and PHF14: a case report
J Med Case Rep, 11 (1), 226
DOI 10.1186/s13256-017-1402-4, PubMed 28814329

Weiss K, Wigby K, Fannemel M, Henderson LB, Beck N, Ghali N, Study DDD, Anderlid BM, Lundin J, Hamosh A, Jones MC, Ghedia S, Muenke M, Kruszka P (2017)
Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay
Eur J Hum Genet, 25 (8), 946-951
DOI 10.1038/ejhg.2017.86, PubMed 28513610

Publications 2016

Demain LA, Urquhart JE, O'Sullivan J, Williams SG, Bhaskar SS, Jenkinson EM, Lourenco CM, Heiberg A, Pearce SH, Shalev SA, Yue WW, Mackinnon S, Munro KJ, Newbury-Ecob R, Becker K, Kim MJ, O' Keefe RT, Newman WG (2016)
Expanding the genotypic spectrum of Perrault syndrome
Clin Genet, 91 (2), 302-312
DOI 10.1111/cge.12776, PubMed 26970254

Goscinski MA, Hole KH, Tønne E, Ryder T, Grøholt KK, Flatmark K (2016)
Fibromatosis in vertical rectus abdominis myocutaneous flap imitating tumor recurrence after surgery for locally advanced rectal cancer: case report
World J Surg Oncol, 14, 63
DOI 10.1186/s12957-016-0818-4, PubMed 26940557

Johannessen J, Nærland T, Bloss C, Rietschel M, Strohmaier J, Gjevik E, Heiberg A, Djurovic S, Andreassen OA (2016)
Parents' attitudes toward genetic research in autism spectrum disorder
Psychiatr Genet, 26 (2), 74-80
DOI 10.1097/YPG.0000000000000121, PubMed 26867185

Nordstrom M, Paus B, Retterstol K, Kolset SO (2016)
The prevalence of metabolic risk factors of atherosclerotic cardiovascular disease in Williams syndrome, Prader-Willi syndrome, and Down syndrome
J. Intellect. Dev. Dis., 41 (3), 187-196
DOI 10.3109/13668250.2016.1167845

Pedurupillay CR, Amundsen SS, Barøy T, Rasmussen M, Blomhoff A, Stadheim BF, Ørstavik K, Holmgren A, Iqbal T, Frengen E, Misceo D, Strømme P (2016)
Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2
Neuromuscul Disord, 26 (9), 570-5
DOI 10.1016/j.nmd.2016.06.457, PubMed 27450922

Prescott TE, Kulseth MA, Heimdal KR, Stadheim B, Hopp E, Gambin T, Coban Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Stray-Pedersen A (2016)
Two male sibs with severe micrognathia and a missense variant in MED12
Eur J Med Genet, 59 (8), 367-72
DOI 10.1016/j.ejmg.2016.06.001, PubMed 27286923

Wang Z, Iida A, Miyake N, Nishiguchi KM, Fujita K, Nakazawa T, Alswaid A, Albalwi MA, Kim OH, Cho TJ, Lim GY, Isidor B, David A, Rustad CF, Merckoll E, Westvik J, Stattin EL, Grigelioniene G, Kou I, Nakajima M, Ohashi H, Smithson S, Matsumoto N, Nishimura G, Ikegawa S (2016)
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations
PLoS One, 11 (3), e0150555
DOI 10.1371/journal.pone.0150555, PubMed 26974433

Publications 2015

Abrahamsen BJ, Kulseth MA, Paus B (2015)
A 19-year-old man with relapsing bilateral pneumothorax, hemoptysis, and intrapulmonary cavitary lesions diagnosed with vascular Ehlers-Danlos syndrome and a novel missense mutation in COL3A1
Chest, 147 (5), e166-e170
DOI 10.1378/chest.13-3002, PubMed 25940258

Barber JC, Rosenfeld JA, Graham JM, Kramer N, Lachlan KL, Bateman MS, Collinson MN, Stadheim BF, Turner CL, Gauthier JN, Reimschisel TE, Qureshi AM, Dabir TA, Humphreys MW, Marble M, Huang T, Beal SJ, Massiah J, Taylor EJ, Wynn SL (2015)
Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance
Am J Med Genet A, 167A (9), 2052-64
DOI 10.1002/ajmg.a.37120, PubMed 26097203

Carlsen EØ, Frengen E, Fannemel M, Misceo D (2015)
Haploinsufficiency of ANO6, NELL2 and DBX2 in a boy with intellectual disability and growth delay
Am J Med Genet A, 167A (8), 1890-6
DOI 10.1002/ajmg.a.37079, PubMed 25846056

Heimdal K, Dalhus B, Rødningen OK, Kroken M, Eiklid K, Dheyauldeen S, Røysland T, Andersen R, Kulseth MA (2015)
Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1
Clin Genet, 89 (2), 182-6
DOI 10.1111/cge.12612, PubMed 25970827

Johnsrud I, Kulseth MA, Rødningen OK, Landrø L, Helsing P, Waage Nielsen E, Heimdal K (2015)
A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1
PLoS One, 10 (7), e0131637
DOI 10.1371/journal.pone.0131637, PubMed 26154504

Johnsrud I, Kulseth MA, Rødningen OK, Landrø L, Helsing P, Waage Nielsen E, Heimdal K (2015)
Correction: A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1
PLoS One, 10 (8), e0136011
DOI 10.1371/journal.pone.0136011, PubMed 26270546

McMaster ML, Heimdal KR, Loud JT, Bracci JS, Rosenberg PS, Greene MH (2015)
Nontesticular cancers in relatives of testicular germ cell tumor (TGCT) patients from multiple-case TGCT families
Cancer Med, 4 (7), 1069-78
DOI 10.1002/cam4.450, PubMed 25882629

Nordstrøm M, Paus B, Andersen LF, Kolset SO (2015)
Dietary aspects related to health and obesity in Williams syndrome, Down syndrome, and Prader-Willi syndrome
Food Nutr Res, 59, 25487
DOI 10.3402/fnr.v59.25487, PubMed 25653019

Pedurupillay CR, Barøy T, Holmgren A, Blomhoff A, Vigeland MD, Sheng Y, Frengen E, Strømme P, Misceo D (2015)
Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B
Am J Med Genet A, 167A (3), 657-63
DOI 10.1002/ajmg.a.36944, PubMed 25691420

Rustad C, Bjørndalen H, Myhre AG, Heier CA, Horn J, Knaus A, Hvid I, Merckoll E, Tveiterås M, Westvik J (2015)
[Re: Special outpatient clinic for skeletal dysplasias]
Tidsskr Nor Laegeforen, 135 (8), 736
DOI 10.4045/tidsskr.15.0440, PubMed 25947586

Tjeldhorn L, Amundsen SS, Barøy T, Rand-Hendriksen S, Geiran O, Frengen E, Paus B (2015)
Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome
BMC Med Genet, 16, 113
DOI 10.1186/s12881-015-0260-4, PubMed 26684006

Tønne E, Holdhus R, Stansberg C, Stray-Pedersen A, Petersen K, Brunner HG, Gilissen C, Hoischen A, Prescott T, Steen VM, Fiskerstrand T (2015)
Syndromic X-linked intellectual disability segregating with a missense variant in RLIM
Eur J Hum Genet, 23 (12), 1652-6
DOI 10.1038/ejhg.2015.30, PubMed 25735484

Publications 2014

Apelland T, Gude E, Strøm EH, Gullestad L, Eiklid KL, Månsson JE, Reinholt FP, Houge G, Dahl CP, Almaas VM, Heiberg A (2014)
Familial globotriaosylceramide-associated cardiomyopathy mimicking Fabry disease
Heart, 100 (22), 1793-8
DOI 10.1136/heartjnl-2014-305616, PubMed 25031264

Drolsum L, Rand-Hendriksen S, Paus B, Geiran OR, Semb SO (2014)
Ocular findings in 87 adults with Ghent-1 verified Marfan syndrome
Acta Ophthalmol, 93 (1), 46-53
DOI 10.1111/aos.12448, PubMed 24853997

Fannemel M, Barøy T, Holmgren A, Rødningen OK, Haugsand TM, Hansen B, Frengen E, Misceo D (2014)
Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms
Eur J Med Genet, 57 (9), 513-9
DOI 10.1016/j.ejmg.2014.05.008, PubMed 24911659

Geirdal AØ, Lund-Petersen I, Heiberg A (2014)
Understanding the experience of myotonic dystrophy. Mixed method study
J Genet Couns, 24 (1), 169-78
DOI 10.1007/s10897-014-9752-1, PubMed 25123360

Gustavsen MW, Viken MK, Celius EG, Berge T, Mero IL, Berg-Hansen P, Aarseth JH, Myhr KM, Søndergaard HB, Sellebjerg F, Oturai AB, Hillert J, Alfredsson L, Olsson T, Kockum I, Lie BA, Harbo HF (2014)
Oligoclonal band phenotypes in MS differ in their HLA class II association, while specific KIR ligands at HLA class I show association to MS in general
J Neuroimmunol, 274 (1-2), 174-9
DOI 10.1016/j.jneuroim.2014.06.024, PubMed 25037176

Heiberg A, Frich J, Røttingen JA (2014)
[A. Heiberg and colleagues reply]
Tidsskr Nor Laegeforen, 134 (8), 809-10
DOI 10.4045/tidsskr.14.0451, PubMed 24780961

Heimdal K, Sanchez-Guixé M, Aukrust I, Bollerslev J, Bruland O, Jablonski GE, Erichsen AK, Gude E, Koht JA, Erdal S, Fiskerstrand T, Haukanes BI, Boman H, Bjørkhaug L, Tallaksen CM, Knappskog PM, Johansson S (2014)
STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity
Orphanet J Rare Dis, 9, 146
DOI 10.1186/s13023-014-0146-0, PubMed 25258038

Johansson S, Berland S, Gradek GA, Bongers E, de Leeuw N, Pfundt R, Fannemel M, Rødningen O, Brendehaug A, Haukanes BI, Hovland R, Helland G, Houge G (2014)
Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability
Am J Med Genet A, 164A (7), 1622-6
DOI 10.1002/ajmg.a.36498, PubMed 24678003

Samarakoon PS, Sorte HS, Kristiansen BE, Skodje T, Sheng Y, Tjønnfjord GE, Stadheim B, Stray-Pedersen A, Rødningen OK, Lyle R (2014)
Identification of copy number variants from exome sequence data
BMC Genomics, 15 (1), 661
DOI 10.1186/1471-2164-15-661, PubMed 25102989

Smith MJ, Isidor B, Beetz C, Williams SG, Bhaskar SS, Richer W, O'Sullivan J, Anderson B, Daly SB, Urquhart JE, Fryer A, Rustad CF, Mills SJ, Samii A, du Plessis D, Halliday D, Barbarot S, Bourdeaut F, Newman WG, Evans DG (2014)
Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis
Neurology, 84 (2), 141-7
DOI 10.1212/WNL.0000000000001129, PubMed 25480913

Stray-Pedersen A, Backe PH, Sorte HS, Mørkrid L, Chokshi NY, Erichsen HC, Gambin T, Elgstøen KB, Bjørås M, Wlodarski MW, Krüger M, Jhangiani SN, Muzny DM, Patel A, Raymond KM, Sasa GS, Krance RA, Martinez CA, Abraham SM, Speckmann C, Ehl S, Hall P, Forbes LR, Merckoll E, Westvik J et al. (2014)
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia
Am J Hum Genet, 95 (1), 96-107
DOI 10.1016/j.ajhg.2014.05.007, PubMed 24931394

Taruscio D, Vittozzi L, Choquet R, Heimdal K, Iskrov G, Kodra Y, Landais P, Posada M, Stefanov R, Steinmueller C, Swinnen E, Van Oyen H (2014)
National registries of rare diseases in Europe: an overview of the current situation and experiences
Public Health Genomics, 18 (1), 20-5
DOI 10.1159/000365897, PubMed 25228300

von der Lippe C, Roscher I, Nordgarden H, Rustad C, Larsen SM, Mjøen E, Bratland Å (2014)
Man with macrocephaly, learning disability and multiple basal cell carcinomas
Tidsskr Nor Laegeforen, 134 (11), 1151-4
DOI 10.4045/tidsskr.13.0894, PubMed 24939783

Walz K, Cohen D, Neilsen PM, Foster J, Brancati F, Demir K, Fisher R, Moffat M, Verbeek NE, Bjørgo K, Lo Castro A, Curatolo P, Novelli G, Abad C, Lei C, Zhang L, Diaz-Horta O, Young JI, Callen DF, Tekin M (2014)
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome
Hum Genet, 134 (2), 181-90
DOI 10.1007/s00439-014-1509-2, PubMed 25413698

Publications 2013

Corsten-Janssen N, Kerstjens-Frederikse WS, du Marchie Sarvaas GJ, Baardman ME, Bakker MK, Bergman JE, Hove HD, Heimdal KR, Rustad CF, Hennekam RC, Hofstra RM, Hoefsloot LH, Van Ravenswaaij-Arts CM, Kapusta L (2013)
The cardiac phenotype in patients with a CHD7 mutation
Circ Cardiovasc Genet, 6 (3), 248-54
DOI 10.1161/CIRCGENETICS.113.000054, PubMed 23677905

Gamage TH, Misceo D, Fannemel M, Frengen E (2013)
A balanced de novo inv(7)(p14.3q22.3) disrupting PDE1C and ATXN7L1 in a 14-year old developmentally delayed boy
Eur J Med Genet, 56 (7), 361-4
DOI 10.1016/j.ejmg.2013.04.005, PubMed 23664928

Helle JR, Barøy T, Misceo D, Braaten Ø, Fannemel M, Frengen E (2013)
Hyperphagia, mild developmental delay but apparently no structural brain anomalies in a boy without SOX3 expression
Am J Med Genet A, 161A (5), 1137-42
DOI 10.1002/ajmg.a.35823, PubMed 23463539

Holm I, Monclair T, Lundar T, Stadheim B, Prescott TE, Eiklid KL (2013)
A 5.8 kb deletion removing the entire MNX1 gene in a Norwegian family with Currarino syndrome
Gene, 518 (2), 457-60
DOI 10.1016/j.gene.2013.01.029, PubMed 23370340

International Multiple Sclerosis Genetics Consortium (IMSGC), Beecham AH, Patsopoulos NA, Xifara DK, Davis MF, Kemppinen A, Cotsapas C, Shah TS, Spencer C, Booth D, Goris A, Oturai A, Saarela J, Fontaine B, Hemmer B, Martin C, Zipp F, D'Alfonso S, Martinelli-Boneschi F, Taylor B, Harbo HF, Kockum I, Hillert J, Olsson T, Ban M et al. (2013)
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis
Nat Genet, 45 (11), 1353-60
DOI 10.1038/ng.2770, PubMed 24076602

Maehlen MT, Provan SA, de Rooy DP, van der Helm-van Mil AH, Krabben A, Saxne T, Lindqvist E, Semb AG, Uhlig T, van der Heijde D, Mero IL, Olsen IC, Kvien TK, Lie BA (2013)
Associations between APOE genotypes and disease susceptibility, joint damage and lipid levels in patients with rheumatoid arthritis
PLoS One, 8 (4), e60970
DOI 10.1371/journal.pone.0060970, PubMed 23613766

Mero IL, Gustavsen MW, Sæther HS, Flåm ST, Berg-Hansen P, Søndergaard HB, Jensen PE, Berge T, Bjølgerud A, Muggerud A, Aarseth JH, International Multiple Sclerosis Genetics Consortium, Myhr KM, Celius EG, Sellebjerg F, Hillert J, Alfredsson L, Olsson T, Oturai AB, Kockum I, Lie BA, Andreassen BK, Harbo HF (2013)
Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles
PLoS One, 8 (3), e58352
DOI 10.1371/journal.pone.0058352, PubMed 23472185

Nordstrøm M, Hansen BH, Paus B, Kolset SO (2013)
Accelerometer-determined physical activity and walking capacity in persons with Down syndrome, Williams syndrome and Prader-Willi syndrome
Res Dev Disabil, 34 (12), 4395-403
DOI 10.1016/j.ridd.2013.09.021, PubMed 24139709

Papathomas TG, Gaal J, Corssmit EP, Oudijk L, Korpershoek E, Heimdal K, Bayley JP, Morreau H, van Dooren M, Papaspyrou K, Schreiner T, Hansen T, Andresen PA, Restuccia DF, van Kessel I, van Leenders GJ, Kros JM, Looijenga LH, Hofland LJ, Mann W, van Nederveen FH, Mete O, Asa SL, de Krijger RR, Dinjens WN (2013)
Non-pheochromocytoma (PCC)/paraganglioma (PGL) tumors in patients with succinate dehydrogenase-related PCC-PGL syndromes: a clinicopathological and molecular analysis
Eur J Endocrinol, 170 (1), 1-12
DOI 10.1530/EJE-13-0623, PubMed 24096523

Prescott T, Redfors M, Rustad CF, Eiklid KL, Geirdal AØ, Storhaug K, Jensen JL (2013)
Characterization of a Norwegian cherubism cohort; molecular genetic findings, oral manifestations and quality of life
Eur J Med Genet, 56 (3), 131-7
DOI 10.1016/j.ejmg.2012.12.008, PubMed 23298620

Rolseth V, Krokeide SZ, Kunke D, Neurauter CG, Suganthan R, Sejersted Y, Hildrestrand GA, Bjørås M, Luna L (2013)
Loss of Neil3, the major DNA glycosylase activity for removal of hydantoins in single stranded DNA, reduces cellular proliferation and sensitizes cells to genotoxic stress
Biochim Biophys Acta, 1833 (5), 1157-64
DOI 10.1016/j.bbamcr.2012.12.024, PubMed 23305905

Yasmeen S, Lund K, De Paepe A, De Bie S, Heiberg A, Silva J, Martins M, Skjørringe T, Møller LB (2013)
Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon
Eur J Hum Genet, 22 (4), 517-21
DOI 10.1038/ejhg.2013.191, PubMed 24002164

Østertun Geirdal A, Øverland B, Heimdal K, Storhaug K, Asten P, Akre H (2013)
Association between obstructive sleep apnea and health-related quality of life in individuals affected with Treacher Collins syndrome
Eur Arch Otorhinolaryngol, 270 (11), 2879-84
DOI 10.1007/s00405-013-2409-0, PubMed 23455582

Publications 1996

Leclerc D, Campeau E, Goyette P, Adjalla CE, Christensen B, Ross M, Eydoux P, Rosenblatt DS, Rozen R, Gravel RA (1996)
Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders
Hum Mol Genet, 5 (12), 1867-74
DOI 10.1093/hmg/5.12.1867, PubMed 8968737

Publications 1994

Fiskerstrand T, Christensen B, Tysnes OB, Ueland PM, Refsum H (1994)
Development and reversion of methionine dependence in a human glioma cell line: relation to homocysteine remethylation and cobalamin status
Cancer Res, 54 (18), 4899-906
PubMed 8069855