KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

Autor: Bruce Hopper, Ellen Macnamara, Valerie A. Arboleda, David Goudie, Nobuhiko Okamoto, Anne Blomhoff, Elizabeth M. McCormick, Joanna Kennedy, Zornitza Stark, Usha Kini, Benjamin Cogné, Susan Schelley, Emilie D. Douine, Stanley F. Nelson, Tiong Yang Tan, Mark Williams, Shelagh Joss, Kimberley Bradbury, Helen Heussler, Hakon Hakonarson, Claudia A. L. Ruivenkamp, Dusica Babovic-Vuksanovic, Jennifer L. Murphy, Esther A. R. Nibbeling, Ruth Armstrong, Mohamed Wafik, Melissa Lees, Louanne Hudgins, Mariet W. Elting, Naomichi Matsumoto, Ruth Newbury-Ecob, Benjamin Kamien, Sarina G. Kant, Alexander J. M. Dingemans, Eric W. Klee, Edward Blair, Bertrand Isidor, Dong Li, Victoria McKay, Marni J. Falk, Margot R.F. Reijnders, Patrick R. Blackburn, Patrick Yap, Phillis Lakeman, Kate Chandler, Janneke H M Schuurs-Hoeijmakers, Celia Duff-Farrier, Andrew Green, Ingrid Scurr, Noriko Miyake, Chirag Patel

Publikováno v: Genetics in Medicine, 21(4), 850-860. Lippincott Williams & Wilkins
Genetics in medicine, 21(4), 850-860. Lippincott Williams and Wilkins
Genetics in Medicine, 21(4), 850-860. Lippincott Williams and Wilkins
Genetics in Medicine, 21(4), 850-860. NATURE PUBLISHING GROUP
Kennedy, J, Goudie, D, Blair, E, Chandler, K, Joss, S, McKay, V, Green, A, Armstrong, R, Lees, M, Kamien, B, Hopper, B, Tan, T Y, Yap, P, Stark, Z, Okamoto, N, Miyake, N, Matsumoto, N, Macnamara, E, Murphy, J L, McCormick, E, Hakonarson, H, Falk, M J, Li, D, Blackburn, P, Klee, E, Babovic-Vuksanovic, D, Schelley, S, Hudgins, L, Kant, S, Isidor, B, Cogne, B, Bradbury, K, Williams, M, Patel, C, Heussler, H, Duff-Farrier, C, Lakeman, P, Scurr, I, Kini, U, Elting, M, Reijnders, M, Schuurs-Hoeijmakers, J, Wafik, M, Blomhoff, A, Ruivenkamp, C A L, Nibbeling, E, Dingemans, A J M, Douine, E D, Nelson, S F, Arboleda, V A & The DDD Study, 2019, ' KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants ', Genetics in Medicine, vol. 21, no. 4, pp. 850-860 . https://doi.org/10.1038/s41436-018-0259-2

Purpose: Pathogenic variants in KAT6A have recently been identified as a cause of syndromic developmental delay. Within 2 years, the number of patients identified with pathogenic KAT6A variants has rapidly expanded and the full extent and variability

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::802b93e0066a09597876e176ae9d9c7a
https://hdl.handle.net/1887/3195990

Correction: KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

Autor: Tatjana Bierhals, Patrick Yap, Phillis Lakeman, Esther A. R. Nibbeling, Claudia A. L. Ruivenkamp, Stanley F. Nelson, Anne Blomhoff, Shelagh Joss, Celia Duff-Farrier, Ruth Armstrong, Jessika Johannsen, Noriko Miyake, Chirag Patel, Melissa Lees, Dong Li, Kate Chandler, Elizabeth M. McCormick, Mohamed Wafik, Davor Lessel, Ruth Newbury-Ecob, Zornitza Stark, Helen Heussler, Nobuhiko Okamoto, Benjamin Kamien, Kimberley Bradbury, Bertrand Isidor, Hakon Hakonarson, Maja Hempel, Andrew Green, Mariet W. Elting, Alexander J. M. Dingemans, Ellen Macnamara, Bruce Hopper, Naomichi Matsumoto, Edward Blair, Jennifer L. Murphy, Benjamin Cogné, Joanna Kennedy, Valerie A. Arboleda, Usha Kini, Janneke H M Schuurs-Hoeijmakers, David Goudie, Emilie D. Douine, Dusica Babovic-Vuksanovic, Eric W. Klee, Sarina G. Kant, Susan Schelley, Marni J. Falk, Margot R.F. Reijnders, Patrick R. Blackburn, Ingrid Scurr, Victoria McKay, Tiong Yang Tan, Mark Williams, Louanne Hudgins

Publikováno v: Genetics in Medicine. 22:1920

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02a295d151bc56b929ac445bb36e35f6
https://doi.org/10.1038/s41436-020-00944-7

Prenatal treatment of ornithine transcarbamylase deficiency

Autor: Kenneth L. Cox, Deborah Alcorn, William E. Benitz, Deirdre J. Lyell, Ricardo O. Castillo, Melissa Hurwitz, Margaret Homeyer, Yael Wilnai, Susan R. Hintz, Jonathan A. Bernstein, Gregory M. Enns, Tina M. Cowan, Jonathan P. Palma, Kristina Cusmano, Susan Schelley, Marshall L. Summar, William E. Berquist, Yair J. Blumenfeld, Waldo Concepcion, Louanne Hudgins, Vishnu Priya Akula, Carlos O. Esquivel

Publikováno v: Molecular genetics and metabolism. 123(3)

Purpose of study Patients with neonatal urea cycle defects (UCDs) typically experience severe hyperammonemia during the first days of life, which results in serious neurological injury or death. Long-term prognosis despite optimal pharmacological and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5db64d18420c76d01cdd81db3b99eaa6
https://pubmed.ncbi.nlm.nih.gov/29396029

Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria

Autor: Kathryn White, Kyle Thompson, Robert N. Lightowlers, Susan Schelley, Zofia M.A. Chrzanowska-Lightowlers, Michael Champion, Tracey Davey, Steven A. Hardy, Robert McFarland, Arnaud Besse, Greg Enns, Robert W. Taylor, Penelope E. Bonnen, M.E. Anagnostou, Charu Deshpande, Michael A. Simpson, Ines A. Barbosa, Monika Oláhová

Publikováno v: Oláhová, M, Thompson, K, Hardy, S A, Barbosa, I A, Besse, A, Anagnostou, M E, White, K, Davey, T, Simpson, M A, Champion, M, Enns, G, Schelley, S, Lightowlers, R N, Chrzanowska-Lightowlers, Z M A, McFarland, R, Deshpande, C, Bonnen, P E & Taylor, R W 2016, ' Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria ', Journal of Inherited Metabolic Disease, pp. 1-10 . https://doi.org/10.1007/s10545-016-9977-2
Journal of Inherited Metabolic Disease

Mitochondrial diseases collectively represent one of the most heterogeneous group of metabolic disorders. Symptoms can manifest at any age, presenting with isolated or multiple-organ involvement. Advances in next-generation sequencing strategies have

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40d344d5b5ce19cf74c3bee80786f899
https://kclpure.kcl.ac.uk/ws/files/58813866/d.pdf

RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans

Autor: A. Micheil Innes, Anas M. Alazami, Melanie A. Manning, Edward D. Esplin, Fowzan S. Alkuraya, Francois P. Bernier, Jillian S. Parboosingh, Amal M. Hashem, Brahim Tabarki, Susan Schelley, Ryan E. Lamont, Hanan E. Shamseldin, Jacek Majewski, Oana Caluseiu

Publikováno v: American journal of human genetics. 97(6)

Primary microcephaly is a developmental brain anomaly that results from defective proliferation of neuroprogenitors in the germinal periventricular zone. More than a dozen genes are known to be mutated in autosomal-recessive primary microcephaly in i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8173ac798562a4f652f4d19eb7c90f2
https://pubmed.ncbi.nlm.nih.gov/26608784