List of Publications
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Albinism: An Underdiagnosed Condition
Arveiler B, Michaud V, Lasseaux E
The Journal of investigative dermatology. 2020;140(7):1449–51
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Delineation of phenotypes and genotypes related to cohesin structural protein RAD21
Krab LC, Marcos-Alcalde I, Assaf M, Balasubramanian M, Andersen JB, Bisgaard A-M, Fitzpatrick DR, Gudmundsson S, Huisman SA, Kalayci T, Maas SM, Martinez F, McKee S, Menke LA, Mulder PA, Murch OD, Parker M, Pie J, Ramos FJ, Rieubland C, Rosenfeld Mokry JA, Scarano E, Shinawi M, Gómez-Puertas P, Tümer Z, Hennekam RC
Human genetics. 2020 May;139(5):575–92
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Clinical utility of genetic testing in 201 preschool children with inherited eye disorders
Lenassi E, Clayton-Smith J, Douzgou S, Ramsden SC, Ingram S, Hall G, Hardcastle CL, Fletcher TA, Taylor RL, Ellingford JM, Newman WD, Fenerty C, Sharma V, Lloyd IC, Biswas S, Ashworth JL, Black GC, Sergouniotis PI
Genetics in medicine : official journal of the American College of Medical Genetics. 2020;22(4):745–51
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Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD
Granadillo JL, P A Stegmann A, Guo H, Xia K, Angle B, Bontempo K, Ranells JD, Newkirk P, Costin C, Viront J, Stumpel CT, Sinnema M, Panis B, Pfundt R, Krapels IPC, Klaassens M, Nicolai J, Li J, Jiang Y, Marco E, Canton A, Latronico AC, Montenegro L, Leheup B, Bonnet C, M Amudhavalli S, Lawson CE, McWalter K, Telegrafi A, Pearson R, Kvarnung M, Wang X, Bi W, Rosenfeld JA, Shinawi M
Journal of medical genetics. 2020;57(10):717–24
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Health-Related Quality of Life in Patients with the Bladder Exstrophy-Epispadias Complex and Relationship to Incontinence and Sexual Factors: A Review of the Recent Literature. European...
Holmdahl G, Dellenmark-Blom M, Nordenskjöld A, Sjöström S
Zeitschrift fur Kinderchirurgie. 2020 Jun;30(3):251–60
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Discovery of Novel Sequences in 1,000 Swedish Genomes
Eisfeldt J, Mårtensson G, Ameur A, Nilsson D, Lindstrand A
Molecular biology and evolution. 2020 Jan 1;37(1):18–30
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Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications
Myers L, Blyth M, Moradkhani K, Hranilović D, Polesie S, Isaksson J, Nordgren A, Bucan M, Vincent M, Bölte S, Anderlid B-M, Tammimies K
Molecular genetics & genomic medicine. 2020;8(1):e1013
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Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia
Dahl S, Pettersson M, Eisfeldt J, Schröder AK, Wickström R, Teär Fahnehjelm K, Anderlid B-M, Lindstrand A
PloS one. 2020;15(2):e0228622
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Clinical versus automated assessments of morphological variants in twins with and without neurodevelopmental disorders
Myers L, Anderlid B-M, Nordgren A, Lundin K, Kuja-Halkola R, Tammimies K, Bölte S
American journal of medical genetics Part A. 2020;182(5):1177–89
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Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome
Plesser Duvdevani M, Pettersson M, Eisfeldt J, Avraham O, Dagan J, Frumkin A, Lupski JR, Lindstrand A, Harel T
American journal of medical genetics Part A. 2020;182(5):1143–51