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Sofia Douzgou Houge
Sofia Douzgou Houge
Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway
Verified email at helse-bergen.no
Title
Cited by
Cited by
Year
Prevalence and architecture of de novo mutations in developmental disorders
Nature 542 (7642), 433-438, 2017
8662017
100,000 genomes pilot on rare-disease diagnosis in health care—preliminary report
100,000 Genomes Project Pilot Investigators
New England Journal of Medicine 385 (20), 1868-1880, 2021
3592021
Histone lysine methylases and demethylases in the landscape of human developmental disorders
V Faundes, WG Newman, L Bernardini, N Canham, J Clayton-Smith, ...
The American Journal of Human Genetics 102 (1), 175-187, 2018
2022018
Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype
LG Sadleir, EI Mountier, D Gill, S Davis, C Joshi, C DeVile, MA Kurian, ...
Neurology 89 (10), 1035-1042, 2017
1242017
Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients
L Micale, B Augello, C Fusco, A Selicorni, MN Loviglio, MC Silengo, ...
Orphanet journal of rare diseases 6, 1-8, 2011
1062011
Epistasis between dopamine regulating genes identifies a nonlinear response of the human hippocampus during memory tasks
A Bertolino, A Di Giorgio, G Blasi, F Sambataro, G Caforio, L Sinibaldi, ...
Biological psychiatry 64 (3), 226-234, 2008
942008
PEDIA: prioritization of exome data by image analysis
TC Hsieh, MA Mensah, JT Pantel, D Aguilar, O Bar, A Bayat, ...
Genetics in Medicine 21 (12), 2807-2814, 2019
832019
Pathogenicity and selective constraint on variation near splice sites
J Lord, G Gallone, PJ Short, JF McRae, H Ironfield, EH Wynn, SS Gerety, ...
Genome research 29 (2), 159-170, 2019
762019
Clinical variability of genetic isolates of Cohen syndrome
S Douzgou, MB Petersen
Clinical genetics 79 (6), 501-506, 2011
762011
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature
MRF Reijnders, R Janowski, M Alvi, JE Self, TJ Van Essen, M Vreeburg, ...
Journal of medical genetics 55 (2), 104-113, 2018
712018
Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome
D Wieczorek, WG Newman, T Wieland, T Berulava, M Kaffe, ...
The American Journal of Human Genetics 95 (6), 698-707, 2014
642014
Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy
AH O’Donnell-Luria, LS Pais, V Faundes, JC Wood, A Sveden, V Luria, ...
The American Journal of Human Genetics 104 (6), 1210-1222, 2019
632019
Delineation of a human Mendelian disorder of the DNA demethylation machinery: TET3 deficiency
DB Beck, A Petracovici, C He, HW Moore, RJ Louie, M Ansar, S Douzgou, ...
The American Journal of Human Genetics 106 (2), 234-245, 2020
612020
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing
A Ghosh, H Schlecht, LE Heptinstall, JK Bassett, E Cartwright, SS Bhaskar, ...
Archives of Disease in Childhood 102 (11), 1019-1029, 2017
612017
COMT Val158Met polymorphism predicts negative symptoms response to treatment with olanzapine in schizophrenia
A Bertolino, G Caforio, G Blasi, A Rampino, M Nardini, DR Weinberger, ...
Schizophrenia research 95 (1-3), 253-255, 2007
612007
Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesia
KM Gorman, E Meyer, D Grozeva, E Spinelli, A McTague, A Sanchis-Juan, ...
The American Journal of Human Genetics 104 (5), 948-956, 2019
582019
Panel-based clinical genetic testing in 85 children with inherited retinal disease
RL Taylor, NRA Parry, SJ Barton, C Campbell, CM Delaney, JM Ellingford, ...
Ophthalmology 124 (7), 985-991, 2017
572017
Diagnosing fetal alcohol syndrome: new insights from newer genetic technologies
S Douzgou, C Breen, YJ Crow, K Chandler, K Metcalfe, E Jones, B Kerr, ...
Archives of Disease in Childhood 97 (9), 812-817, 2012
532012
Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study
JF McRae, S Clayton, TW Fitzgerald, J Kaplanis, E Prigmore, D Rajan, ...
BioRxiv, 049056, 2016
512016
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders
E Lenassi, J Clayton-Smith, S Douzgou, SC Ramsden, S Ingram, G Hall, ...
Genetics in Medicine 22 (4), 745-751, 2020
492020
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