Genome sequencing in a cohort of 32 fetuses with genetic skeletal disorders

Authors: Lindelof, H, Hammarsjo, A, Voss, U, Piticchio, SG, Conner, P, Papadogiannakis, N, Batkovskyte, D, Orellana, L, Kvarnung, M, Malmgren, H

Source: EUROPEAN JOURNAL OF HUMAN GENETICS. 33(11):1474-1483

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The value of age of onset and family history as predictors of molecular diagnosis in a Swedish cohort of inherited retinal disease

Authors: De, Geer K, Lofgren, S, Lindstrand, A, Kvarnung, M, Bjorck, E

Source: ACTA OPHTHALMOLOGICA. 103(3):327-338

Access URL: http://kipublications.ki.se/Default.aspx?queryparsed=id:160513765

Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder

Authors: Kvarnung, M, Pettersson, M, Chun-on, P, Rafati, M, Mcreynolds, LJ, Norberg, A, Moura, PL, Pesonen, I, Chaireti, R, Soderholm, BG

Source: EUROPEAN JOURNAL OF HUMAN GENETICS. 33(5):580-587

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Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting

Authors: Malmgren, H, Kvarnung, M, Gustafsson, P, Anderlid, B-M, Arthur, C, Carlsten, J, De, Geer K, Ehn, E, Grigelioniene, G, Hammarsjo, A

Source: FRONTIERS IN GENETICS. 16

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A Novel Type of Autosomal Dominant Episodic Nystagmus Segregating with a Variant in the FRMD5 Gene

Authors: Hammar, B, Paulsson, S, Helgadottir, HT, Albinsson, J, Naumovska, M, Sheikh, R, Kvarnung, M

Source: NEURO-OPHTHALMOLOGY. 48(6):407-416

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Multi-omics analysis detail a submicroscopic inv(15)(q14q15) generating fusion transcripts and MEIS2 and NUSAP1 haploinsufficiency

Authors: Ek, M, Kvarnung, M, Pettersson, M, Soller, MJ, Anderlid, B-M, Thonberg, H, Eisfeldt, J, Lindstrand, A

Source: SCIENTIFIC REPORTS. 14(1)

Access URL: http://kipublications.ki.se/Default.aspx?queryparsed=id:160381730

Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability

Authors: Lindstrand, A, Ek, M, Kvarnung, M, Anderlid, B-M, Bjoerck, E, Carlsten, J, Eisfeldt, J, Grigelioniene, G, Gustavsson, P, Hammarsjoe, A

Source: GENETICS IN MEDICINE. 24(11):2296-2307

Access URL: http://kipublications.ki.se/Default.aspx?queryparsed=id:151627721

Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations

Authors: Mereaux, J-L, Firanescu, C, Coarelli, G, Kvarnung, M, Rodrigues, R, Pegoraro, E, Tazir, M, Taithe, F, Valter, R, Huin, V

Source: NEUROGENETICS. 22(1):71-79

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Insights into heterozygous ITPR1 variants associated with ataxia and miosis

Authors: Wincent, J, Zhang, S, Nolan, A, Nordin, F, Kvarnung, M, Uhlén, P, Paucar, M, Eidhof, I

Source: medRxiv.

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Unraveling GRIA1 neurodevelopmental disorders: Lessons learned from the p.(Ala636Thr) variant

Authors: Tvergaard, NK, Tkemaladze, T, Stodberg, T, Kvarnung, M, Tatton-Brown, K, Baralle, D, Tumer, Z, Bayat, A

Source: CLINICAL GENETICS. 106(4):427-436

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Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

Authors: Stranneheim, H, Lagerstedt-Robinson, K, Magnusson, M, Kvarnung, M, Nilsson, D, Lesko, N, Engvall, M, Anderlid, B-M, Arnell, H, Johansson, CB

Source: GENOME MEDICINE. 13(1)

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Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

Authors: Stessman, HAF, Xiong, B, Coe, BP, Wang, T, Hoekzema, K, Fenckova, M, Kvarnung, M, Gerdts, J, Trinh, S, Cosemans, N

Source: NATURE GENETICS. 49(4):515-526

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Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

Authors: Geisheker, MR, Heymann, G, Wang, T, Coe, BP, Turner, TN, Stessman, HAF, Hoekzema, K, Kvarnung, M, Shaw, M, Friend, K

Source: NATURE NEUROSCIENCE. 20(8):1043-1051

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Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Authors: Wang, T, Hoekzema, K, Vecchio, D, Wu, H, Sulovari, A, Coe, BP, Gillentine, MA, Wilfert, AB, Perez-Jurado, LA, Kvarnung, M

Source: NATURE COMMUNICATIONS. 11(1)

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ARID1B-related disorder in 87 adults: Natural history and self-sustainability

Authors: van der Sluijs, P.J. ¹, Gösgens, M. ¹, Dingemans, A.J.M. ², Striano, P. ^{3, 4}, Riva, A. ^{4, 5}, Mignot, C. ⁶, Faudet, A. ⁷, Vasileiou, G. ^{8, 9}, Walther, M. ⁸, Schrier Vergano, S.A. ^{10, 11}, Alders, M. ¹², Alkuraya, F.S. ^{13, 14}, Alorainy, I. ¹⁵, Alsaif, H.S. ^{13, 16}, Anderlid, B. ¹⁷, Bache, I. ¹⁸, van Beek, I. ¹², Blanluet, M. ¹⁹, van Bon, B.W. ²⁰, Brunet, T. ^{21, 22}, Brunner, H. ², Carriero, M.L. ²³, Charles, P. ⁶, Chatron, N. ^{24, 25}, Coccia, E. ²⁶, Dubourg, C. ^{27, 28}, Earl, R.K. ²⁹, Eichler, E.E. ^{30, 31}, Faivre, L. ^{32, 33}, Foulds, N. ³⁴, Graziano, C. ³⁵, Guerrot, A.M. ³⁶, Hashem, M.O. ¹³, Heide, S. ⁷, Heron, D. ⁷, Hickey, S.E. ^{37, 38}, Hopman, S.M.J. ³⁹, Kattentidt-Mouravieva, A. ⁴⁰, Kerkhof, J. ⁴¹, Klein Wassink-Ruiter, J.S. ⁴², Kurtz-Nelson, E.C. ^{29, 43}, Kušíková, K. ⁴⁴, Kvarnung, M. ¹⁷, Lecoquierre, F. ³⁶, Leszinski, G.S. ²¹, Loberti, L. ^{23, 45}, Magoulas, P.L. ⁴⁶, Mari, F. ²³, Maystadt, I. ⁴⁷, Merla, G. ^{48, 49}, Milunsky, J.M. ⁵⁰, Moortgat, S. ⁴⁷, Nicolas, G. ³⁶, Leary, M.O.’ ⁵¹, Odent, S. ^{28, 52}, Ozmore, J.R. ⁵³, Parbhoo, K. ^{37, 54}, Pfundt, R. ², Piccione, M. ^{55, 56}, Pinto, A.M. ²³, Popp, B. ⁵⁷, Putoux, A. ²⁴, Rehm, H.L. ⁵¹, Reis, A. ^{8, 9}, Renieri, A. ^{23, 45}, Rosenfeld, J.A. ^{46, 58}, Rossi, M. ²⁴, Salzano, E. ⁵⁵, Saugier-Veber, P. ³⁶, Seri, M. ²⁶, Severi, G. ²⁶, Sonmez, F.M. ⁵⁹, Strobl-Wildemann, G. ⁶⁰, Stuurman, K.E. ⁶¹, Uctepe, E. ⁶², Van Esch, H. ⁶³, Vitetta, G. ²⁶, de Vries, B.B.A. ², Wahl, D. ⁶⁴, Wang, T. ^{30, 65, 66, 67}, Zacher, P. ⁶⁸, Heitink, K.R. ⁶⁹, Ropers, F.G. ⁷⁰, Steenbeek, D. ⁷¹, Rybak, T. ⁷², Santen, G.W.E. ^{1, ∗}

Source: In Genetics in Medicine Open 2024 2

Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186

Authors: Kvarnung, M, Shahsavani, M, Taylan, F, Moslem, M, Breeuwsma, N, Laan, L, Schuster, J, Jin, Z, Nilsson, D, Lieden, A

Source: FRONTIERS IN GENETICS. 10

Access URL: http://kipublications.ki.se/Default.aspx?queryparsed=id:141905197

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

Authors: Lindstrand, A, Eisfeldt, J, Pettersson, M, Carvalho, CMB, Kvarnung, M, Grigelioniene, G, Anderlid, B-M, Bjerin, O, Gustavsson, P, Hammarsjo, A

Source: GENOME MEDICINE. 11(1)

Access URL: http://kipublications.ki.se/Default.aspx?queryparsed=id:142247233

Multi-Omic Investigations of a 17-19 Translocation Links MINK1 Disruption to Autism, Epilepsy and Osteoporosis

Authors: Eisfeldt, J, Schuy, J, Stattin, E-L, Kvarnung, M, Falk, A, Feuk, L, Lindstrand, A

Source: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 23(16):9392-9392

Access URL: http://kipublications.ki.se/Default.aspx?queryparsed=id:150544331

ARID1B-related disorder in 87 adults: Natural history and self-sustainability

Authors: van der Sluijs, P. J., Gösgens, M., Dingemans, A. J. M., Striano, P., Riva, A., Mignot, C., Faudet, A., Vasileiou, G., Walther, M., Schrier Vergano, S. A., Alders, M., Alkuraya, F. S., Alorainy, I., Alsaif, H. S., Anderlid, B., Bache, I., van Beek, I., Blanluet, M., van Bon, B. W., Brunet, T., Brunner, H., Carriero, M. L., Charles, P., Chatron, N., Coccia, E., Dubourg, C., Earl, R. K., Eichler, E. E., Faivre, L., Foulds, N., Graziano, C., Guerrot, A. M., Hashem, M. O., Heide, S., Heron, D., Hickey, S. E., Hopman, S. M. J., Kattentidt-Mouravieva, A., Kerkhof, J., Klein Wassink-Ruiter, J. S., Kurtz-Nelson, E. C., Kušíková, K., Kvarnung, M., Lecoquierre, F., Leszinski, G. S., Loberti, L., Magoulas, P. L., Mari, F., Maystadt, I., Merla, G., Milunsky, J. M., Moortgat, S., Nicolas, G., O'Leary, M., Odent, S., Ozmore, J. R., Parbhoo, K., Pfundt, R., Piccione, M., Pinto, A. M., Popp, B., Putoux, A., Rehm, H. L., Reis, A., Renieri, A., Rosenfeld, J. A., Rossi, M., Salzano, E., Saugier-Veber, P., Seri, M., Severi, G., Sonmez, F. M., Strobl-Wildemann, G., Stuurman, K. E., Uctepe, E., Van Esch, H., Vitetta, G., de Vries, B. B. A., Wahl, D., Wang, T., Zacher, P., Heitink, K. R., Ropers, F. G., Steenbeek, D., Rybak, T., Santen, G. W. E.

Contributors: Pediatrics, School of Medicine

Source: PMC

Subject Terms: ARID1B, Adult, Coffin–Siris syndrome, Developmental delay, Intellectual disability

File Description: application/pdf

Relation: Genetics in Medicine Open; https://hdl.handle.net/1805/45483

Availability: https://hdl.handle.net/1805/45483

Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3

Authors: Ben-Shabat, I, Kvarnung, M, Sperker, W, Bruhn, H, Wredenberg, A, Wibom, R, Nennesmo, I, Engvall, M, Paucar, M

Source: NEUROLOGY-GENETICS. 9(6)

Access URL: http://kipublications.ki.se/Default.aspx?queryparsed=id:159975982