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Katrina Haude
Researcher at GeneDx
Publications - 14
Citations - 693
Katrina Haude is an academic researcher from GeneDx. The author has contributed to research in topics: Compound heterozygosity & Mitochondrial DNA. The author has an hindex of 8, co-authored 14 publications receiving 467 citations. Previous affiliations of Katrina Haude include University of Rochester & State University of New York at Brockport.
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Journal ArticleDOI
Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on wnt signaling
Lot Snijders Blok,Erik C. Madsen,Jane Juusola,Christian Gilissen,Diana Baralle,Margot R.F. Reijnders,Hanka Venselaar,Céline Helsmoortel,Megan T. Cho,Alexander Hoischen,Lisenka E.L.M. Vissers,Tom S. Koemans,Willemijn M. Wissink-Lindhout,Evan E. Eichler,Evan E. Eichler,Corrado Romano,Hilde Van Esch,Connie T.R.M. Stumpel,Maaike Vreeburg,E. Smeets,Karin Oberndorff,Bregje W.M. van Bon,Bregje W.M. van Bon,Marie Shaw,Jozef Gecz,Eric Haan,M Bienek,C Jensen,Bart Loeys,Anke Van Dijck,A. Micheil Innes,Hilary Racher,Sascha Vermeer,Nataliya Di Donato,Andreas Rump,Katrina Tatton-Brown,Michael Parker,Alex Henderson,Sally Ann Lynch,Alan Fryer,Alison Ross,Pradeep Vasudevan,Usha Kini,Ruth Newbury-Ecob,Kate Chandler,Alison Male,Sybe Dijkstra,Jolanda H. Schieving,Jacques C. Giltay,Koen L.I. van Gassen,Janneke H M Schuurs-Hoeijmakers,Perciliz L. Tan,Igor Pediaditakis,Stefan A. Haas,Kyle Retterer,Patrick Reed,Kristin G. Monaghan,Eden Haverfield,Marvin R. Natowicz,Angela Myers,Michael C. Kruer,Quinn Stein,Kevin A. Strauss,Karlla W. Brigatti,Katherine G. Keating,Barbara K. Burton,Katherine H. Kim,Joel Charrow,Jennifer Norman,Audrey Foster-Barber,Antonie D. Kline,Amy S. Kimball,Elaine H. Zackai,Margaret H. Harr,Joyce Fox,Julie McLaughlin,Kristin Lindstrom,Katrina Haude,Kees E. P. van Roozendaal,Han G. Brunner,Wendy K. Chung,R. Frank Kooy,Rolph Pfundt,Vera M. Kalscheuer,Sarju G. Mehta,Nicholas Katsanis,Tjitske Kleefstra +86 more
TL;DR: A consistent loss-of-function effect of all tested de novo mutations on the Wnt pathway is demonstrated, and a differential effect by gender is shown, possibly reflects a dose-dependent effect of DDX3X expression in the context of functional mosaic females versus one-copy males, which reflects the complex biological nature of DDx3X mutations.
Journal ArticleDOI
A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1
Panfeng Tao,Jinqiao Sun,Zheming Wu,Shihao Wang,Jun Wang,Wanjin Li,Heling Pan,Renkui Bai,Jiahui Zhang,Ying Wang,Pui Y. Lee,Wenjing Ying,Qinhua Zhou,Jia Hou,Wenjie Wang,Bijun Sun,Mi Yang,Danru Liu,Ran Fang,Huan Han,Zhaohui Yang,Xin Huang,Haibo Li,Natalie Deuitch,Yuan Zhang,Dilan Dissanayake,Katrina Haude,Kirsty McWalter,Chelsea Roadhouse,Jennifer MacKenzie,Jennifer MacKenzie,Ronald M. Laxer,Ivona Aksentijevich,Xiaomin Yu,Xiaochuan Wang,Junying Yuan,Qing Zhou,Qing Zhou +37 more
TL;DR: Two families with variants in RIPK1 (D324V and D324H) that lead to distinct symptoms of recurrent fevers and lymphadenopathy in an autosomal-dominant manner are identified andRIPK1 mutations that prevent caspase-8 cleavage sensitize cells to apoptosis, necroptosis and inflammation are identified.
Journal ArticleDOI
De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.
Karin Weiss,Paulien A Terhal,Lior Cohen,Lior Cohen,Michael Bruccoleri,Melita Irving,Ariel F. Martinez,Jill A. Rosenfeld,Keren Machol,Yaping Yang,Pengfei Liu,Magdalena Walkiewicz,Joke Beuten,Natalia Gomez-Ospina,Katrina Haude,Chin-To Fong,Gregory M. Enns,Jonathan A. Bernstein,Judith Fan,Garrett Gotway,Mohammad Ghorbani,Koen L.I. van Gassen,Glen R. Monroe,Gijs van Haaften,Lina Basel-Vanagaite,Xiang-Jiao Yang,Philippe M. Campeau,Maximilian Muenke +27 more
TL;DR: Evidence for the role of CHD4 in human development is provided and an increasingly recognized group of Mendelian disorders involving chromatin remodeling and modification is expanded.
Journal ArticleDOI
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome
Nicole J. Lake,Nicole J. Lake,Bryn D. Webb,David A. Stroud,Tara R. Richman,Benedetta Ruzzenente,Alison G. Compton,Alison G. Compton,Hayley S. Mountford,Hayley S. Mountford,Hayley S. Mountford,Juliette Pulman,Coralie Zangarelli,Marlène Rio,Nathalie Bodaert,Zahra Assouline,Mingma D. Sherpa,Eric E. Schadt,Sander M. Houten,James Byrnes,Elizabeth M. McCormick,Zarazuela Zolkipli-Cunningham,Katrina Haude,Zhancheng Zhang,Kyle Retterer,Renkui Bai,Sarah E. Calvo,Sarah E. Calvo,Vamsi K. Mootha,Vamsi K. Mootha,John Christodoulou,John Christodoulou,Agnès Rötig,Aleksandra Filipovska,Ingrid Cristian,Ingrid Cristian,Marni J. Falk,Metodi D. Metodiev,David R. Thorburn,David R. Thorburn +39 more
TL;DR: It is established that MRPS34 is required for normal function of the mitoribosome in humans and the power of quantitative proteomic analysis to identify signatures of defects in specific cellular pathways in fibroblasts from subjects with inherited disease is demonstrated.
Journal ArticleDOI
De Novo Missense Variants in PPP2R5D Are Associated with Intellectual Disability, Macrocephaly, Hypotonia, and Autism
Linshan Shang,Lindsay B. Henderson,Megan T. Cho,Donald S. Petrey,Chin-To Fong,Katrina Haude,Natasha Shur,Julie Lundberg,Natalie Hauser,Jason Carmichael,Jeffrey W. Innis,Jane L. Schuette,Yvonne W. Wu,Shailesh Asaikar,Margaret Pearson,Leandra Folk,Kyle Retterer,Kristin G. Monaghan,Wendy K. Chung +18 more
TL;DR: Using whole-exome sequencing (WES), this work identified four de novo variants in PPP2R5D in a total of seven unrelated individuals with intellectual disability (ID) and other shared clinical characteristics, including autism spectrum disorder, macrocephaly, hypotonia, seizures, and dysmorphic features, which provides further support for P PP2R 5D as a genetic cause of ID.