Oana Caluseriu

portrait of Oana Caluseriu

Associate Professor

8-39B Medical Sciences Building
Office: 780-407-2993
Email: caluseri@ualberta.ca
Dr. Caluseriu is a medical geneticist with a clinical and research focus on rare disorders affecting primarily prenatal and pediatric age. Characterizing human phenotypes is the mainstay of her clinical practice and is a fundamental step towards exploring the molecular basis and underlying mechanisms of genetic disorders. Identifying a cause for a genetic condition is central for building a personalized management of both the patient and their families including genetic testing, family genetic counseling and planning, and access to community resources.
The thrust of Dr. Caluseriu's research is the application of next generation sequencing (NGS) techniques that enable gene identification and functional characterization of genomic variants with impact on patient's diagnosis. She is the leader of a precision medicine initiative, the Translational Genomics Hub (TGH; Translational Genomics Hub – WCHRI) under the auspices of the Women & Children's Health Research Institute, a resource that helps facilitate the interpretation of NGS data and exploration by functional studies of relevant variants. Bridging the gap between clinicians and basic researchers, TGH is directly involved in characterizing the genetic and functional basis of human variation as relevant to clinical practice.

Selected Publications:

Almubarak A, Zhang D, Kosak M, Rathwell S, Doonanco J, Eaton AJ, Kannu P, Lazier J, Lui M, Niederhoffer KY, MacPherson MJ, Sorsdahl M, Caluseriu O. Prenatal Genetic Testing in the Era of Next Generation Sequencing: A One-Center Canadian Experience. Genes (Basel). 2022 Nov 3;13(11):2019. doi: 10.3390/genes13112019. PMID: 36360262; PMCID: PMC9690880.

Blackwell DL, Fraser SD, Caluseriu O, Vivori C, Tyndall AV, Lamont RE, Parboosingh JS, Innes AMBernier FP, Childs SJ. Hnrnpul1 controls transcription, splicing, and modulates skeletal and limb development in vivo. G3 (Bethesda). 2022 May 6;12(5):jkac067. doi: 10.1093/g3journal/jkac067. PMID: 35325113; PMCID: PMC9073674.

Bobyn A, Jetha M, Frohlich B, Campbell S, Jaremko JL, Caluseriu O, Grimbly C. Metaphyseal and posterior rib fractures in osteogenesis imperfecta: Case report and review of the literature. Bone Rep. 2022 Feb 8;16:101171. doi: 10.1016/j.bonr.2022.101171. PMID: 35242891; PMCID: PMC8857419.

Sharma R, Niederhoffer KY, Caluseriu O, Cooke CL, Hornberger LK, He R, Eckersley L, Lin L, Rushfeldt M, McBrien A. Extra-cardiac diagnoses and postnatal outcomes of fetal tetralogy of fallot. Prenat Diagn. 2022 Feb;42(2):260-266. doi: 10.1002/pd.6102. Epub 2022 Jan 27. PMID: 35060156.

Qi C, Feng I, Costa AR, Pinto-Costa R, Neil JE, Caluseriu O, Li D, Ganetzky RD, Brasch-Andersen C, Fagerberg C, Hansen LK, Bupp C, Muraresku CC, Ruan X, Kang B, Hu K, Zhong R, Brites P, Bhoj EJ, Hill RS, Falk MJ, Hakonarson H, Kahle KT, Sousa MM, Walsh CA, Zhang X. Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans. Genet Med. 2022 Feb;24(2):319- 331. doi: 10.1016/j.gim.2021.09.014. Epub 2021 Nov 30. PMID: 34906466; PMCID: PMC8802223.

Lazier J, Hartley T, Brock JA, Caluseriu O, Chitayat D, Laberge AM, Langlois S, Lauzon J, Nelson TN, Parboosingh J, Stavropoulos DJ, Boycott K, Armour CM; Canadian College of Medical Geneticists. Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists. J Med Genet. 2021 Sep 20:jmedgenet-2021-107897. doi: 10.1136/jmedgenet-2021-107897. Epub ahead of print. PMID: 34544840.

Phillips EA, Caluseriu O, Schlade-Bartusiak K, Chernos J, McLeod DR, Thomas MA. Clinical and molecular characterization of an almost complete ring chromosome 4 in two sisters, with recurrence due to gonadal mosaicism. Clin Dysmorphol. 2021 Oct 1;30(4):173-176. doi: 10.1097/MCD.0000000000000382. PMID: 34417371.

Nami B (trainee), Ghanaeian A (trainee), Ghanaeian K, Houri R, Nami N, Ghasemi-Dizgah A, Caluseriu O. The interaction of the severe acute respiratory syndrome coronavirus 2 spike protein with drug inhibited angiotensin converting enzyme 2 studied by molecular dynamics simulation. J Hypertens. 2021 Aug 1;39(8):1705-1716. doi: 10.1097/HJH.0000000000002829. PMID: 34188005.

Trakmulkichkarn T, Ghadiry-Tavi R, Fruitman D, Niederhoffer KY, Caluseriu O, Lauzon JL, Wewala G, Hornberger LK, Urschel S, Conway J, McBrien A. Clinical presentation, genetic etiology and outcome associated with fetal cardiomyopathy: comparison of two eras. Ultrasound Obstet Gynecol. 2022 Mar;59(3):325-334. doi: 10.1002/uog.23713. PMID: 34159662.

Young AA, McBrien A, Caluseriu O, Haberer K, Wewala G, Eckersley L, Hornberger LK. Fetal double outlet right ventricle without heterotaxy syndrome: Diagnostic spectrum, associated extracardiac pathology and clinical outcomes. Prenat Diagn. 2021 Aug;41(9):1118-1126. doi: 10.1002/pd.5979. Epub 2021 Jun 27. PMID: 34118793.

Rots D, Chater-Diehl E, Dingemans AJM, Goodman SJ, Siu MT, Cytrynbaum C, Choufani S, Hoang N,Walker S, Awamleh Z, Charkow J, Meyn S, Pfundt R, Rinne T, Gardeitchik T, de Vries BBA, Deden AC, Leenders E, Kwint M, Stumpel CTRM, Stevens SJC, Vermeulen JR, van Harssel JVT, Bosch DGM, van Gassen KLI, van Binsbergen E, de Geus CM, Brackel H, Hempel M, Lessel D, Denecke J, Slavotinek A, Strober J, Crunk A, Folk L, Wentzensen IM, Yang H, Zou F, Millan F, Person R, Xie Y, Liu S, Ousager LB, Larsen M, Schultz-Rogers L, Morava E, Klee EW, Berry IR, Campbell J, Lindstrom K, Pruniski B, Neumeyer AM, Radley JA, Phornphutkul C, Schmidt B, Wilson WG, Õunap K, Reinson K, Pajusalu S, van Haeringen A, Ruivenkamp C, Cuperus R, Santos-Simarro F, Palomares-Bralo M, Pacio-Míguez M, Ritter A, Bhoj E, Tønne E, Tveten K, Cappuccio G, Brunetti-Pierri N, Rowe L, Bunn J, Saenz M, Platzer K, Mertens M, Caluseriu O, Nowaczyk MJM, Cohn RD, Kannu P, Alkhunaizi E, Chitayat D, Scherer SW, Brunner HG, Vissers LELM, Kleefstra T, Koolen DA, Weksberg R. Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature. Am J Hum Genet. 2021 Jun 3;108(6):1053-1068. doi: 10.1016/j.ajhg.2021.04.008. Epub 2021 Apr 27. PMID: 33909990; PMCID: PMC8206150.

Chowdhury F, Wang L, Al-Raqad M, Amor DJ, Baxová A, Bendová Š, Biamino E, Brusco A, Caluseriu O, Cox NJ, Froukh T, Gunay-Aygun M, Hančárová M, Haynes D, Heide S, Hoganson G, Kaname T, Keren B, Kosaki K, Kubota K, Lemons JM, Magriña MA, Mark PR, McDonald MT, Montgomery S, Morley GM, Ohnishi H, Okamoto N, Rodriguez-Buritica D, Rump P, Sedláček Z, Schatz K, Streff H, Uehara T, Walia JS, Wheeler PG, Wiesener A, Zweier C, Kawakami K, Wentzensen IM, Lalani SR, Siu VM, Bi W, Balci TB. Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities. Genet Med. 2021 Jul;23(7):1234-1245. doi: 10.1038/s41436-021-01129-6. Epub 2021 Apr 6. PMID: 33824499.

Li D, March ME, Fortugno P, Cox LL, Matsuoka LS, Monetta R, Seiler C, Pyle LC, Bedoukian EC, Sánchez-Soler MJ, Caluseriu O, Grand K, Tam A, Aycinena ARP, Camerota L, Guo Y, Sleiman P, Callewaert B, Kumps C, Dheedene A, Buckley M, Kirk EP, Turner A, Kamien B, Patel C, Wilson M, Roscioli T, Christodoulou J, Cox TC, Zackai EH, Brancati F, Hakonarson H, Bhoj EJ. Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome. Hum Genet. 2021 Jul;140(7):1061-1076. doi: 10.1007/s00439-021-02274-3. Epub 2021 Apr 3. PMID: 33811546.

Doucette LP, Noel NCL, Zhai Y, Xu M, Caluseriu O, Hoang SC, Radziwon AJ, MacDonald IM. Whole exome sequencing reveals putatively novel associations in retinopathies and drusen formation. Eur J Hum Genet. 2021 Aug;29(8):1171-1185. doi: 10.1038/s41431-021-00872-3. Epub 2021 Mar 29. PMID: 33776059; PMCID: PMC8385108.

McBrien A, Caluseriu O, Niederhoffer KY, Hornberger LK. Prenatal features, associated co-morbidities and clinical course of agenesis of the ductus venosus in the current era. Prenat Diagn. 2021 Jan;41(1):15- 20. doi: 10.1002/pd.5827. Epub 2020 Nov 3. PMID: 32920862.

Choufani S, Gibson WT, Turinsky AL, Chung BHY, Wang T, Garg K, Vitriolo A, Cohen ASA, Cyrus S, Goodman S, Chater-Diehl E, Brzezinski J, Brudno M, Ming LH, White SM, Lynch SA, Clericuzio C, Temple IK, Flinter F, McConnell V, Cushing T, Bird LM, Splitt M, Kerr B, Scherer SW, Machado J, Imagawa E, Okamoto N, Matsumoto N, Testa G, Iascone M, Tenconi R, Caluseriu O, Mendoza-Londono R, Chitayat D, Cytrynbaum C, Tatton-Brown K, Weksberg R. DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes. Am J Hum Genet. 2020 May 7;106(5):596-610. doi: 10.1016/j.ajhg.2020.03.008. Epub 2020 Apr 2. PMID: 32243864; PMCID: PMC7212265.

Siu MT, Butcher DT, Turinsky AL, Cytrynbaum C, Stavropoulos DJ, Walker S, Caluseriu O, Carter M, Lou Y, Nicolson R, Georgiades S, Szatmari P, Anagnostou E, Scherer SW, Choufani S, Brudno M, Weksberg R. Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants. Clin Epigenetics. 2019 Jul 16;11(1):103. doi: 10.1186/s13148-019-0684-3. PMID: 31311581; PMCID: PMC6636171.

Banerjee M, Arutyunov D, Brandwein D, Janetzki-Flatt C (trainee), Kolski H, Hume S, Leonard NJ, Watt J, Lacson A, Baradi M, Leslie EM, Cordat E, Caluseriu O. The novel p.Ser263Phe mutation in the human high-affinity choline transporter 1 (CHT1/SLC5A7) causes a lethal form of fetal akinesia syndrome. Hum Mutat. 2019 Oct;40(10):1676-1683. doi: 10.1002/humu.23828. Epub 2019 Jul 12. PMID: 31299140.

Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjöld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ØL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ØL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W; CAUSES Study, Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denommé-Pichon AS; Deciphering Developmental Disorders study, Férec C, Yang XJ, Rosenfeld JA, Gilbert-Dussardier B, Audebert-Bellanger S, Redon R, Stessman HAF, Nellaker C, Yang Y, Lupski JR, Goldstein DB, Eichler EE, Bolduc F, Bézieau S, Küry S, Campeau PM. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. Am J Hum Genet. 2019 Mar 7;104(3):530-541. doi: 10.1016/j.ajhg.2019.01.010. Epub 2019 Feb 28. PMID: 30827496; PMCID: PMC6407527.

Eaton A, Bernier FP, Goedhart C, Caluseriu O, Lamont RE, Boycott KM, Parboosingh JS, Innes AM; O, Lamont RE, Boycott KM, Parboosingh JS, Innes AM; Care4Rare Canada Consortium. Is PNPT1-related hearing loss ever non-syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1-related disorders. Am J Med Genet A. 2018 Nov;176(11):2487-2493. doi: 10.1002/ajmg.a.40516. Epub 2018 Sep 23. PMID: 30244537.

Gennarino VA, Palmer EE, McDonell LM, Wang L, Adamski CJ, Koire A, See L, Chen CA, Schaaf CP, Rosenfeld JA, Panzer JA, Moog U, Hao S, Bye A, Kirk EP, Stankiewicz P, Breman AM, McBride A, Kandula T, Dubbs HA, Macintosh R, Cardamone M, Zhu Y, Ying K, Dias KR, Cho MT, Henderson LB, Baskin B, Morris P, Tao J, Cowley MJ, Dinger ME, Roscioli T, Caluseriu O, Suchowersky O, Sachdev RK, Lichtarge O, Tang J, Boycott KM, Holder JL Jr, Zoghbi HY. A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures. Cell. 2018 Feb 22;172(5):924- 936.e11. doi: 10.1016/j.cell.2018.02.006. PMID: 29474920; PMCID: PMC5832058.

Alcantara D, Timms AE, Gripp K, Baker L, Park K, Collins S, Cheng C, Stewart F, Mehta SG, Saggar A, Sztriha L, Zombor M, Caluseriu O, Mesterman R, Van Allen MI, Jacquinet A, Ygberg S, Bernstein JA, Wenger AM, Guturu H, Bejerano G, Gomez-Ospina N, Lehman A, Alfei E, Pantaleoni C, Conti V, Guerrini R, Moog U, Graham JM Jr, Hevner R, Dobyns WB, O'Driscoll M, Mirzaa GM. Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly. Brain. 2017 Oct \1;140(10):2610-2622. doi: 10.1093/brain/awx203. PMID: 28969385; PMCID: PMC6080423.

 

Allison Lewis - MSc 2018