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Siren Berland
Siren Berland
MD PhD Genetics, Haukeland, Bergen, Norway
Verified email at helse-bergen.no
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Cited by
Year
Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA
P Edery, C Marcaillou, M Sahbatou, A Labalme, J Chastang, R Touraine, ...
Science 332 (6026), 240-243, 2011
2422011
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis
ZA Jenkins, M van Kogelenberg, T Morgan, A Jeffs, R Fukuzawa, E Pearl, ...
Nature genetics 41 (1), 95-100, 2009
2182009
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum
S Banka, R Veeramachaneni, W Reardon, E Howard, S Bunstone, ...
European Journal of Human Genetics 20 (4), 381-388, 2012
1932012
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability
G Houge, D Haesen, LELM Vissers, S Mehta, MJ Parker, M Wright, J Vogt, ...
The Journal of clinical investigation 125 (8), 3051-3062, 2015
1192015
EPHB4 kinase–inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis
S Martin-Almedina, I Martinez-Corral, R Holdhus, A Vicente, E Fotiou, ...
The Journal of clinical investigation 126 (8), 3080-3088, 2016
1022016
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients
S Moortgat, S Berland, I Aukrust, I Maystadt, L Baker, V Benoit, ...
European Journal of Human Genetics 26 (1), 64-74, 2018
932018
Copy-number gains of HUWE1 due to replication-and recombination-based rearrangements
G Froyen, S Belet, F Martinez, CB Santos-Rebouças, M Declercq, ...
The American Journal of Human Genetics 91 (2), 252-264, 2012
932012
Further delineation of the KAT6B molecular and phenotypic spectrum
T Gannon, R Perveen, H Schlecht, S Ramsden, B Anderson, B Kerr, ...
European Journal of Human Genetics 23 (9), 1165-1170, 2015
622015
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum
EDH Konrad, N Nardini, A Caliebe, I Nagel, D Young, G Horvath, ...
Genetics in Medicine 21 (12), 2723-2733, 2019
602019
Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents
D Smajlagić, K Lavrichenko, S Berland, Ø Helgeland, GP Knudsen, ...
European Journal of Human Genetics 29 (1), 205-215, 2021
532021
PHF6 deletions may cause Borjeson-Forssman-Lehmann syndrome in females
S Berland, K Alme, A Brendehaug, G Houge, R Hovland
Molecular syndromology 1 (6), 294-300, 2011
422011
NFIB haploinsufficiency is associated with intellectual disability and macrocephaly
I Schanze, J Bunt, JWC Lim, D Schanze, RJ Dean, M Alders, P Blanchet, ...
The American Journal of Human Genetics 103 (5), 752-768, 2018
402018
Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features
JS Cohen, S Srivastava, KD Farwell Hagman, DN Shinde, R Huether, ...
Clinical Genetics 91 (5), 697-707, 2017
382017
Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability
S Johansson, S Berland, GA Gradek, E Bongers, N de Leeuw, R Pfundt, ...
American Journal of Medical Genetics Part A 164 (7), 1622-1626, 2014
382014
Evidence for anticipation in Beckwith–Wiedemann syndrome
S Berland, M Appelbäck, O Bruland, J Beygo, K Buiting, DJG Mackay, ...
European Journal of Human Genetics 21 (12), 1344-1348, 2013
372013
The intronic ABCA4 c.5461‐10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level
I Aukrust, RW Jansson, C Bredrup, HE Rusaas, S Berland, A Jørgensen, ...
Acta Ophthalmologica 95 (3), 240-246, 2017
332017
Females with de novo aberrations in PHF6: Clinical overlap of Borjeson–Forssman–Lehmann with Coffin–Siris syndrome
C Zweier, O Rittinger, I Bader, S Berland, T Cole, F Degenhardt, ...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2014
332014
De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females
DL Polla, EJ Bhoj, J Verheij, JSK Wassink-Ruiter, A Reis, C Deshpande, ...
Genetics in Medicine 23 (4), 645-652, 2021
222021
A clinical scoring system for congenital contractural arachnodactyly
I Meerschaut, S De Coninck, W Steyaert, A Barnicoat, A Bayat, ...
Genetics in Medicine 22 (1), 124-131, 2020
222020
Late-onset gain of skills and peculiar jugular pit in an 11-year-old girl with 5q14. 3 microdeletion including MEF2C
S Berland, G Houge
Clinical Dysmorphology 19 (4), 222-224, 2010
212010
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