An 8.4‐Mb 3q26.33‐3q28 microdeletion in a patient with blepharophimosis–intellectual disability syndrome and a review of the literature

por Õunap, Katrin, Pajusalu, Sander, Zilina, Olga, Reimand, Tiia, Žordania, Riina
Publicado en Clin Case Rep (2016)

Two Consecutive Pregnancies with Simpson-Golabi-Behmel Syndrome Type 1: Case Report and Review of Published Prenatal Cases

por Ridnõi, Konstantin, Kurvinen, Elvira, Pajusalu, Sander, Reimand, Tiia, Õunap, Katrin
Publicado en Mol Syndromol (2018)

The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients

por Vals, Mari-Anne, Pajusalu, Sander, Kals, Mart, Mägi, Reedik, Õunap, Katrin
Publicado en JIMD Rep (2017)

A prenatally diagnosed case of Meckel–Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene

por Ridnõi, Konstantin, Šois, Marek, Vaidla, Eve, Pajusalu, Sander, Kelder, Larissa, Reimand, Tiia, Õunap, Katrin
Publicado en Mol Genet Genomic Med (2019)

Three Families with Mild PMM2-CDG and Normal Cognitive Development

por Vals, Mari-Anne, Morava, Eva, Teeäär, Kai, Zordania, Riina, Pajusalu, Sander, Lefeber, Dirk J., Õunap, Katrin
Publicado en Am J Med Genet A (2017)

A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review

por Yakoreva, Maria, Kahre, Tiina, Pajusalu, Sander, Ilisson, Piret, Žilina, Olga, Tillmann, Vallo, Reimand, Tiia, Õunap, Katrin
Publicado en Mol Syndromol (2018)

PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene

por Õunap, Katrin, Muru, Kai, Õiglane-Shlik, Eve, Ilves, Pilvi, Pajusalu, Sander, Kuus, Imbi, Wojcik, Monica H., Reimand, Tiia
Publicado en Eur J Med Genet (2019)

The Diagnostic Utility of Single Long Contiguous Stretches of Homozygosity in Patients without Parental Consanguinity

por Pajusalu, Sander, Žilina, Olga, Yakoreva, Maria, Tammur, Pille, Kuuse, Kati, Mölter-Väär, Triin, Nõukas, Margit, Reimand, Tiia, Õunap, Katrin
Publicado en Mol Syndromol (2015)

Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the PRPS1 gene

por Puusepp, Sanna, Reinson, Karit, Pajusalu, Sander, van Kuilenburg, André B.P., Dobritzsch, Doreen, Roelofsen, Jeroen, Stenzel, Werner, Õunap, Katrin
Publicado en Mol Genet Metab Rep (2020)

Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia

por Puusepp, Sanna, Reinson, Karit, Pajusalu, Sander, Murumets, Ülle, Õiglane-Shlik, Eve, Rein, Reet, Talvik, Inga, Rodenburg, Richard J., Õunap, Katrin
Publicado en Mol Genet Metab Rep (2018)

FLAD1‐associated multiple acyl‐CoA dehydrogenase deficiency identified by newborn screening

por Muru, Kai, Reinson, Karit, Künnapas, Kadi, Lilleväli, Hardo, Nochi, Zahra, Mosegaard, Signe, Pajusalu, Sander, Olsen, Rikke K. J., Õunap, Katrin
Publicado en Mol Genet Genomic Med (2019)

Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency

por Lilleväli, Hardo, Pajusalu, Sander, Wojcik, Monica H., Goodrich, Julia, Collins, Ryan L., Murumets, Ülle, Tammur, Pille, Blau, Nenad, Lilleväli, Kersti, Õunap, Katrin
Publicado en Mol Genet Genomic Med (2020)

A missense mutation in the catalytic domain of O‐GlcNAc transferase links perturbations in protein O‐GlcNAcylation to X‐linked intellectual disability

por Pravata, Veronica M., Gundogdu, Mehmet, Bartual, Sergio G., Ferenbach, Andrew T., Stavridis, Marios, Õunap, Katrin, Pajusalu, Sander, Žordania, Riina, Wojcik, Monica H., van Aalten, Daan M. F.
Publicado en FEBS Lett (2019)

Novel Mutations in MYBPC1 Are Associated With Myogenic Tremor and Mild Myopathy

por Stavusis, Janis, Lace, Baiba, Schäfer, Jochen, Geist, Janelle, Inashkina, Inna, Kidere, Dita, Pajusalu, Sander, Wright, Nathan T., Saak, Annika, Weinhold, Manja, Haubenberger, Dietrich, Jackson, Sandra, Kontrogianni-Konstantopoulos, Aikaterini, Bönnemann, Carsten G.
Publicado en Ann Neurol (2019)

A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016

por Yakoreva, Maria, Kahre, Tiina, Žordania, Riina, Reinson, Karit, Teek, Rita, Tillmann, Vallo, Peet, Aleksandr, Õiglane-Shlik, Eve, Pajusalu, Sander, Murumets, Ülle, Vals, Mari-Anne, Mee, Pille, Wojcik, Monica H., Õunap, Katrin
Publicado en Eur J Hum Genet (2019)

A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis

por Fung, Jasmine L. F., Yu, Mullin H. C., Huang, Shushu, Chung, Claudia C. Y., Chan, Marcus C. Y., Pajusalu, Sander, Mak, Christopher C. Y., Hui, Vivian C. C., Tsang, Mandy H. Y., Yeung, Kit San, Lek, Monkol, Chung, Brian H. Y.
Publicado en NPJ Genom Med (2020)

Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency

por Puusepp, Sanna, Kovacs-Nagy, Reka, Alhaddad, Bader, Braunisch, Matthias, Hoffmann, Georg F., Kotzaeridou, Urania, Lichvarova, Lucia, Liiv, Mailis, Makowski, Christine, Mandel, Merle, Meitinger, Thomas, Pajusalu, Sander, Rodenburg, Richard J., Safiulina, Dzhamilja, Strom, Tim M., Talvik, Inga, Vaarmann, Annika, Wilson, Callum, Kaasik, Allen, Haack, Tobias B., Õunap, Katrin
Publicado en Eur J Hum Genet (2018)

Diffuse hypomyelination is not obligate for POLR3-related disorders

por La Piana, Roberta, Cayami, Ferdy K., Tran, Luan T., Guerrero, Kether, van Spaendonk, Rosalina, Õunap, Katrin, Pajusalu, Sander, Haack, Tobias, Wassmer, Evangeline, Timmann, Dagmar, Mierzewska, Hanna, Poll-Thé, Bwee T., Patel, Chirag, Cox, Helen, Atik, Tahir, Onay, Huseyin, Ozkınay, Ferda, Vanderver, Adeline, van der Knaap, Marjo S., Wolf, Nicole I., Bernard, Geneviève
Publicado en Neurology (2016)

Exome sequencing in paediatric patients with movement disorders

por Kwong, Anna Ka-Yee, Tsang, Mandy Ho-Yin, Fung, Jasmine Lee-Fong, Mak, Christopher Chun-Yu, Chan, Kate Lok-San, Rodenburg, Richard J. T., Lek, Monkol, Huang, Shushu, Pajusalu, Sander, Yau, Man-Mut, Tsoi, Cheung, Fung, Sharon, Liu, Kam-Tim, Ma, Che-Kwan, Wong, Sheila, Yau, Eric Kin-Cheong, Tai, Shuk-Mui, Fung, Eva Lai-Wah, Wu, Nick Shun-Ping, Tsung, Li-Yan, Smeitink, Jan, Chung, Brian Hon-Yin, Fung, Cheuk-Wing
Publicado en Orphanet J Rare Dis (2021)

A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome

por White, Susan M., Bhoj, Elizabeth, Nellåker, Christoffer, Lachmeijer, Augusta M.A., Marshall, Aren E., Boycott, Kym M., Li, Dong, Smith, Wendy, Hartley, Taila, McBride, Arran, Ernst, Michelle E., May, Alison S., Wieczorek, Dagmar, Abou Jamra, Rami, Koch-Hogrebe, Margarete, Õunap, Katrin, Pajusalu, Sander, van Gassen, K.L.I., Sadedin, Simon, Ellingwood, Sara, Tan, Tiong Yang, Christodoulou, John, Barea, Jaime, Lockhart, Paul J., Nezarati, Marjan M., Kernohan, Kristin D.
Publicado en Am J Hum Genet (2021)