16

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, V 11. , 2016. ,
- - ( Research
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1998/99.
(University of British Columbia, Vancouver, Canada)
2002. . 2002. . - a
(Department of Medical Genetics, Faculty of
Medicine, University of British Columbia), .
2007. . - a
( Dr Ann M. Rose),

Caenorhabditis elegans (Spindle Assembly Checkpoint and Chromosome Stability in

2
Caenorhabditis elegans). 2004. 2005.
, Canadian
Institutes of Health Research (CIHR) Burroughs-Welcome
. 2003. 2006.

//,

.
2008. 2013. Simon
Fraser (Simon Fraser University, Canada),
C. elegans
, : Next Generation Sequencing (NGS), oligo array Comparative Genome
Hybridization (aCGH) .
2011. CIHR 'Fanconi Anemia
Identification of genome variations that drive increased fitness in MAD1 and
FANCJ-defective C. elegans mutation accumulation lines using whole genome sequencing
methods.
2013. . 2010.
(124 )
Simon Fraser . 2011.
Kwantlen
(Kwantlen Polytechnic University) 2013.
Simon Fraser .
2013.
(BC Childrens
Hospital, Vancouver) .
: (1) (Big Data analysis); (2)
Next Generation Sequencing (NGS)
,
; (3)
j

3
; (4) , , (genetic
modifiers, enhancers/suppressors) .
, - 23
a a, (Book Chapters), 13 . Google Scholar 07.
2016, - 369
(IF)
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, 5
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.
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. Simon Fraser ,
- C. elegans
, : NGS, oligo array

4
Comparative Genome Hybridization (aCGH)
. - NGS
,
. ,

FANCJ ( ) C.
elegans.
pipeline
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- pipeline

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.
.
150 ,
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5
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,
, ,
(genetic modifiers, enhancers/suppressors) .

.

-
(M21):
1. Stray-Pedersen A, Cobben JM, Prescott TE, Lee S, Cang C, Aranda K, Ahmed S, Alders M,
Gerstner T, Aslaksen K, Ttreault M, Qin W, Hartley T, Jhangiani SN, Muzny DM, TarailoGraovac M, van Karnebeek CD; Care4Rare Canada Consortium; Baylor-Hopkins Center for
Mendelian Genomics, Lupski JR, Ren D, Yoon G.
Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth
Retardation, and Severe Intellectual Disability.
Am J Hum Genet. 2016 Jan 7;98(1):202-9. (21; 6/167; IF= 10.931)
2. Langlois S, Tarailo-Graovac M, Sayson B, Drgemller B, Swenerton A, Ross CJ,
Wasserman WW, van Karnebeek CD.
De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO
syndrome.
Eur J Hum Genet. 2015 Oct 21. doi: 10.1038/ejhg.2015.217. (21; 36/167; IF= 4.349)
3. Sirrs S, van Karnebeek CD, Peng X, Shyr C, Tarailo-Graovac M, Mandal R, Testa D, Dubin
D, Carbonetti G, Glynn SE, Sayson B, Robinson WP, Han B, Wishart D, Ross CJ, Wasserman
WW, Hurwitz TA, Sinclair G, Kaczocha M.
Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms.
Orphanet J Rare Dis. 2015 Mar 28;10:38. (21; 25/124; IF= 3.958)
4. Tarailo-Graovac M, Sinclair G, Stockler-Ipsiroglu S, Van Allen M, Rozmus J, Shyr C,
Biancheri R, Oh T, Sayson B, Lafek M, Ross CJ, Robinson WP, Wasserman WW, Rossi A, van
Karnebeek CD.
The genotypic and phenotypic spectrum of PIGA deficiency.
Orphanet J Rare Dis. 2015 Feb 27;10:23. (21; 25/124; IF= 3.958)
5. Tarailo-Graovac M, Wong T, Qin Z, Flibotte S, Taylor J, Moerman DG, Rose AM, Chen N.
Spectrum of variations in dog-1/FANCJ and mdf-1/MAD1 defective Caenorhabditis elegans
strains after long-term propagation.
BMC Genomics. 2015 Mar 18;16:210. (21; 41/165; IF= 4.041)
6. Gottlieb MM, Arenillas DJ, Maithripala S, Maurer ZD, Tarailo Graovac M, Armstrong L, Patel
M, van Karnebeek C, Wasserman WW.
GeneYenta: a phenotype-based rare disease case matching tool based on online dating
algorithms for the acceleration of exome interpretation.
Hum Mutat. 2015 Apr;36(4):432-8. (21; 25/167; IF= 5.340)
7. Tarailo-Graovac M, Wong T, Qin Z, Flibotte S, Taylor J, Moerman DG, Rose AM, Chen N.
Cyclin B3 and dynein heavy chain cooperate to increase fitness in the absence of mdf1/MAD1 in Caenorhabditis elegans.

7
Cell Cycle. 2014;13(19):3089-199. (21; 44/185; IF= 5.321)
8. Shyr C, Tarailo-Graovac M,* Gottlieb M, Lee JJ, van Karnebeek C, Wasserman WW.
FLAGS, frequently mutated genes in public exomes.
*EQUAL CONTRIBUTION
BMC Med Genomics. 2014 Dec 3;7:64. (21; 44/165; IF= 3.914)
9. Salvarinova R, Ye CX, Rossi A, Biancheri R, Roland EH, Pavlidis P, Ross CJ, Tarailo-Graovac
M, Wasserman WW, van Karnebeek CD.
Expansion of the QARS deficiency phenotype with report of a family with isolated
supratentorial brain abnormalities.
Neurogenetics. 2015 Apr;16(2):145-9. (21; 38/192; IF= 3.575)
10. Armstrong L, Biancheri R, Shyr C, Rossi A, Sinclair G, Ross CJ, Tarailo-Graovac M,
Wasserman WW, van Karnebeek CD.
AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset.
Neurogenetics. 2014 Aug;15(3):157-9. (21; 38/192; IF= 3.575)
11. Vergara IA*, Tarailo-Graovac M*, Frech C*, Wang J, Qin Z, Zhang T, She R, Chu JS,
Wang K, Chen N.
*EQUAL CONTRIBUTION
Genome-wide variations in a natural isolate of the nematode Caenorhabditis elegans.
BMC Genomics. 2014 Apr 2;15:255. (21; 31/161; IF= 4.397)
12. Tarailo-Graovac M, Chen N.
Mos1-mediated transgenesis to probe consequences of single gene mutations in variation-rich
isolates of Caenorhabditis elegans.
PLoS One. 2012;7(11):e48762. (21; 12/86; IF= 4.411)
13. Chu JS, Tarailo-Graovac M, Zhang D, Wang J, Uyar B, Tu D, Trinh J, Baillie DL, Chen
N.
Fine tuning of RFX/DAF-19-regulated target gene expression through binding to multiple
sites in Caenorhabditis elegans.
Nucleic Acids Res. 2012 Jan;40(1):53-64. (21; 22/291; IF= 8.808)
14. Tarailo-Graovac M, Wang J, Tu D, Baillie DL, Rose AM, Chen N.
Duplication of cyb-3 (cyclin B3) suppresses sterility in the absence of mdf-1/MAD1 spindle
assembly checkpoint component in Caenorhabditis elegans.
Cell Cycle. 2010 Dec 15;9(24):4858-65. (21; 44/181; IF= 5.359)
15. Vergara IA, Mah AK, Huang JC, Tarailo-Graovac M, Johnsen RC, Baillie DL, Chen N.
Polymorphic segmental duplication in the nematode Caenorhabditis elegans.
BMC Genomics. 2009 Jul 21;10:329. (21; 34/156; IF= 4.206)

16. Zhao Y, Tarailo-Graovac M, O'Neil NJ, Rose AM.

Spectrum of mutational events in the absence of DOG-1/FANCJ in Caenorhabditis elegans.
DNA Repair (Amst). 2008 Nov 1;7(11):1846-54. (21; 19/131; IF= 5.868)
17. Tarailo M, Tarailo S, Rose AM.
Synthetic lethal interactions identify phenotypic "interologs" of the spindle assembly
checkpoint components.
Genetics. 2007 Dec;177(4):2525-30. (21; 26/124; IF= 4.242)
18. Tarailo M, Kitagawa R, Rose AM.
Suppressors of spindle checkpoint defect (such) mutants identify new mdf-1/MAD1
interactors in Caenorhabditis elegans.
Genetics. 2007 Apr;175(4):1665-79. (21; 26/124; IF= 4.242)
19. Zhao Y, Lai K, Cheung I, Youds J, Tarailo M, Tarailo S, Rose A.
A mutational analysis of Caenorhabditis elegans in space.
Mutat Res. 2006 Oct 10;601(1-2):19-29. (21; 4/73; IF= 4.159)

(M 23)
20. Schuurs-Hoeijmakers JH, Landsverk ML, Foulds N, Kukolich MK, Gavrilova RH, GrevilleHeygate S, Hanson-Kahn A, Bernstein JA, Glass J, Chitayat D, Burrow TA, Husami A, Collins K,
Wusik K, van der Aa N, Kooy F, Brown KT, Gadzicki D, Kini U, Alvarez S, Fernndez-Jan A,
McGehee F, Selby K, Tarailo-Graovac M, Van Allen M, van Karnebeek CD, Stavropoulos DJ,
Marshall CR, Merico D, Gregor A, Zweier C, Hopkin RJ, Chu YW, Chung BH, de Vries BB,
Devriendt K, Hurles ME, Brunner HG; DDD study. Clinical delineation of the PACS1-related
syndrome-Report on 19 patients. Am J Med Genet A. 2016 Mar;170(3):670-5. (23; 104/167;
IF= 2.159)
21. Tarailo-Graovac M, Chen N.
Proper cyclin B3 dosage is important for precision of metaphase-to-anaphase onset timing in
Caenorhabditis elegans.
G3 (Bethesda). 2(8):865-71. (23; 89/165; IF= 2.511)
22. Tarailo-Graovac M, Wang J, Chu JS, Tu D, Baillie DL, Chen N.
Spindle assembly checkpoint genes reveal distinct as well as overlapping expression that
implicates MDF-2/Mad2 in postembryonic seam cell proliferation in Caenorhabditis elegans.
BMC Cell Biol. 2010 Sep 21;11:71 (23; 81/158; IF= 3.157)

9
(M 53)
23. Kevelam SH, Taube JR, van Spaendonk RM, Bertini E, Sperle K, Tarnopolsky M, Tonduti D,
Valente EM, Travaglini L, Sistermans EA, Bernard G, Catsman-Berrevoets CE, van Karnebeek
CD, stergaard JR, Friederich RL, Fawzi Elsaid M, Schieving JH, Tarailo-Graovac M, Orcesi S,
Steenweg ME, van Berkel CG, Waisfisz Q, Abbink TE, van der Knaap MS, Hobson GM, Wolf
NI.
Altered PLP1 Splicing Causes Hypomyelination of Early Myelinating Structures.
Ann Clin Transl Neurol. 2015 Jun;2(6):648-61. (IF= NA)

- 2
,
2 200 ( ).
24. Tarailo-Graovac M, Chen N.
Gene clustering in eukaryotes.
eLS, John Wiley & Sons, Ltd [DOI: 10.1002/9780470015902.a0006117.pub3]
INVITED REVIEW
25. Tarailo-Graovac M, Chen N.
Using RepeatMasker to Identify Repetitive Elements in Genomic Sequences.
Current Protocols in Bioinformatics. Chapter 4:Unit 4.10; John Wiley & Sons.
INVITED

10

NGS
Stray-Pedersen A, Cobben JM, Prescott TE, Lee S, Cang C, Aranda K, Ahmed S, Alders M,
Gerstner T, Aslaksen K, Ttreault M, Qin W, Hartley T, Jhangiani SN, Muzny DM, TarailoGraovac M, van Karnebeek CD; Care4Rare Canada Consortium; Baylor-Hopkins Center for
Mendelian Genomics, Lupski JR, Ren D, Yoon G. Biallelic Mutations in UNC80 Cause
Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual
Disability. Am J Hum Genet. 2016 Jan 7;98(1):202-9. ( . 1)
Langlois S, Tarailo-Graovac M, Sayson B, Drgemller B, Swenerton A, Ross CJ, Wasserman
WW, van Karnebeek CD. De novo dominant variants affecting the motor domain of KIF1A
are a cause of PEHO syndrome. Eur J Hum Genet. 2015 Oct 21. doi: 10.1038/ejhg.2015.217.
( . 2)
Sirrs S, van Karnebeek CD, Peng X, Shyr C, Tarailo-Graovac M, Mandal R, Testa D, Dubin
D, Carbonetti G, Glynn SE, Sayson B, Robinson WP, Han B, Wishart D, Ross CJ, Wasserman
WW, Hurwitz TA, Sinclair G, Kaczocha M. Defects in fatty acid amide hydrolase 2 in a male
with neurologic and psychiatric symptoms. Orphanet J Rare Dis. 2015 Mar 28;10:38. ( .
3)
Tarailo-Graovac M, Sinclair G, Stockler-Ipsiroglu S, Van Allen M, Rozmus J, Shyr C,
Biancheri R, Oh T, Sayson B, Lafek M, Ross CJ, Robinson WP, Wasserman WW, Rossi A, van
Karnebeek CD. The genotypic and phenotypic spectrum of PIGA deficiency. Orphanet J Rare
Dis. 2015 Feb 27;10:23. ( . 4)
Salvarinova R, Ye CX, Rossi A, Biancheri R, Roland EH, Pavlidis P, Ross CJ, Tarailo-Graovac
M, Wasserman WW, van Karnebeek CD. Expansion of the QARS deficiency phenotype with
report of a family with isolated supratentorial brain abnormalities. Neurogenetics. 2015
Apr;16(2):145-9. ( . 9)
Armstrong L, Biancheri R, Shyr C, Rossi A, Sinclair G, Ross CJ, Tarailo-Graovac M,
Wasserman WW, van Karnebeek CD. AIMP1 deficiency presents as a cortical
neurodegenerative disease with infantile onset. Neurogenetics. 2014 Aug;15(3):157-9. ( .
10)
Schuurs-Hoeijmakers JH, Landsverk ML, Foulds N, Kukolich MK, Gavrilova RH, GrevilleHeygate S, Hanson-Kahn A, Bernstein JA, Glass J, Chitayat D, Burrow TA, Husami A, Collins K,
Wusik K, van der Aa N, Kooy F, Brown KT, Gadzicki D, Kini U, Alvarez S, Fernndez-Jan A,
McGehee F, Selby K, Tarailo-Graovac M, Van Allen M, van Karnebeek CD, Stavropoulos DJ,
Marshall CR, Merico D, Gregor A, Zweier C, Hopkin RJ, Chu YW, Chung BH, de Vries BB,
Devriendt K, Hurles ME, Brunner HG; DDD study. Clinical delineation of the PACS1-related
syndrome-Report on 19 patients. Am J Med Genet A. 2016 Mar;170(3):670-5. ( . 20)

11
Kevelam SH, Taube JR, van Spaendonk RM, Bertini E, Sperle K, Tarnopolsky M, Tonduti D,
Valente EM, Travaglini L, Sistermans EA, Bernard G, Catsman-Berrevoets CE, van Karnebeek
CD, stergaard JR, Friederich RL, Fawzi Elsaid M, Schieving JH, Tarailo-Graovac M, Orcesi S,
Steenweg ME, van Berkel CG, Waisfisz Q, Abbink TE, van der Knaap MS, Hobson GM, Wolf
NI. Altered PLP1 Splicing Causes Hypomyelination of Early Myelinating Structures. Ann Clin
Transl Neurol. 2015 Jun;2(6):648-61. ( . 23)
NGS
.
(~2% )

,
. NGS

,
, . NGS

() ,
, .
2013. , -
( TIDE-BC/Omics2TreatID)

. pipeline (
~8 ) / . NGS
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). 90%
(68% + 22% ). ,
( , 1 +
, )
( 2, 3, 4, 9, 10, 20, 13 + ,
); > 15%
, - je
. >40% ,

12
NGS
( ).
(TIDE-BC/Omics2TreatID) CAUSES
, , pipeline,
- ,
,
(British
Columbia).

Gottlieb MM, Arenillas DJ, Maithripala S, Maurer ZD, Tarailo Graovac M, Armstrong L, Patel
M, van Karnebeek C, Wasserman WW. GeneYenta: a phenotype-based rare disease case
matching tool based on online dating algorithms for the acceleration of exome interpretation.
Hum Mutat. 2015 Apr;36(4):432-8. ( . 6)
Shyr C, Tarailo-Graovac M,* Gottlieb M, Lee JJ, van Karnebeek C, Wasserman WW.
FLAGS, frequently mutated genes in public exomes. *EQUAL CONTRIBUTION BMC Med
Genomics. 2014 Dec 3;7:64. ( . 8)
pipeline (
), -
, , .

( 8). ,
-
( 6).

13

- C. elegans


Tarailo-Graovac M, Wong T, Qin Z, Flibotte S, Taylor J, Moerman DG, Rose AM, Chen N.
Spectrum of variations in dog-1/FANCJ and mdf-1/MAD1 defective Caenorhabditis elegans
strains after long-term propagation. BMC Genomics. 2015 Mar 18;16:210. ( . 5)
Tarailo-Graovac M, Wong T, Qin Z, Flibotte S, Taylor J, Moerman DG, Rose AM, Chen N.
Cyclin B3 and dynein heavy chain cooperate to increase fitness in the absence of mdf1/MAD1 in Caenorhabditis elegans. Cell Cycle. 2014;13(19):3089-199. ( . 7)
Tarailo-Graovac M, Wang J, Tu D, Baillie DL, Rose AM, Chen N. Duplication of cyb-3
(cyclin B3) suppresses sterility in the absence of mdf-1/MAD1 spindle assembly checkpoint
component in Caenorhabditis elegans. Cell Cycle. 2010 Dec 15;9(24):4858-65. ( . 14)
Tarailo M, Tarailo S, Rose AM. Synthetic lethal interactions identify phenotypic
"interologs" of the spindle assembly checkpoint components. Genetics. 2007
Dec;177(4):2525-30. ( . 17)
Tarailo M, Kitagawa R, Rose AM. Suppressors of spindle checkpoint defect (such) mutants
identify new mdf-1/MAD1 interactors in Caenorhabditis elegans. Genetics. 2007
Apr;175(4):1665-79. ( . 18)
Tarailo-Graovac M, Chen N. Proper cyclin B3 dosage is important for precision of metaphaseto-anaphase onset timing in Caenorhabditis elegans. G3 (Bethesda). 2(8):865-71. ( . 21)
Tarailo-Graovac M, Wang J, Chu JS, Tu D, Baillie DL, Chen N. Spindle assembly checkpoint
genes reveal distinct as well as overlapping expression that implicates MDF-2/Mad2 in
postembryonic seam cell proliferation in Caenorhabditis elegans. BMC Cell Biol. 2010 Sep
21;11:71 ( . 22)
mdf-1/MAD1 ,

.
. ,
. ,

, .
mdf-1/MAD1 , C. elegans
. -
mdf-1 ,

14
C. elegans mdf-1 ( 7, 14, 18, 21).
13 .
,
APC5 APC10 ,
. ,
-

( 7, 14, 21).
mdf-1 , -

. mdf-1 RNAi
,

( 17). Simon Fraser,
-
C. elegans ,
C. elegans ( 22).
C. elegans ,
: NGS, oaCGH
.
: cyb-3 (Cyclin B3) dhc-1 (dynein heavy chain).
( 5, 7, 14, 21)
mdf-1 .
- NGS
( 5),
( 7).

15
dog-1/FANCJ
Tarailo-Graovac M, Wong T, Qin Z, Flibotte S, Taylor J, Moerman DG, Rose AM, Chen N.
Spectrum of variations in dog-1/FANCJ and mdf-1/MAD1 defective Caenorhabditis elegans
strains after long-term propagation. BMC Genomics. 2015 Mar 18;16:210. ( . 5)
Zhao Y, Tarailo-Graovac M, O'Neil NJ, Rose AM. Spectrum of mutational events in the
absence of DOG-1/FANCJ in Caenorhabditis elegans. DNA Repair (Amst). 2008 Nov
1;7(11):1846-54. ( . 16)
dog-1/FANCJ C. elegans ,
. ,
FANCJ , .

- 470 C. elegans
dog-1/FANCJ . NGS
,
, (
5, 16).

Tarailo-Graovac M, Chen N. Mos1-mediated transgenesis to probe consequences of single
gene mutations in variation-rich isolates of Caenorhabditis elegans. PLoS One.
2012;7(11):e48762. ( . 12)
Zhao Y, Lai K, Cheung I, Youds J, Tarailo M, Tarailo S, Rose A. A mutational analysis of
Caenorhabditis elegans in space. Mutat Res. 2006 Oct 10;601(1-2):19-29. ( . 19)
, -
C. elegans
( 20).
MosSCI
( 12).

16
C. elegans
Vergara IA*, Tarailo-Graovac M*, Frech C*, Wang J, Qin Z, Zhang T, She R, Chu JS, Wang
K, Chen N. *EQUAL CONTRIBUTION Genome-wide variations in a natural isolate of the
nematode Caenorhabditis elegans. BMC Genomics. 2014 Apr 2;15:255. ( . 11)
Vergara IA, Mah AK, Huang JC, Tarailo-Graovac M, Johnsen RC, Baillie DL, Chen N.
Polymorphic segmental duplication in the nematode Caenorhabditis elegans. BMC Genomics.
2009 Jul 21;10:329. ( . 15)
- C. elegans .
brc-1/BRCA1 .
, BRCA1
.
( 11, 15).

Chu JS, Tarailo-Graovac M, Zhang D, Wang J, Uyar B, Tu D, Trinh J, Baillie DL, Chen N.
Fine tuning of RFX/DAF-19-regulated target gene expression through binding to multiple
sites in Caenorhabditis elegans. Nucleic Acids Res. 2012 Jan;40(1):53-64. ( . 13)
-
.

(
/).
MosSCI C. elegans Mos
( 13).

17

1.
1.1.
2011-2013: Canadian Institutes of Health Research and Fanconi Anemia Postdoctoral
Fellowship, Canada, Canadian Institutes of Health Research (CIHR),
Fanconi Anemia /
Fanconi
($152,084 CAD).
2011: DeLill Nasser Award for Professional Development in Genetics, Genetic
Society of America, , ;
- DeLill Nasser Award
Simon Fraser ($1,000 USD).
2004-2005: University Graduate Fellowship, University of British Columbia, Canada,
($18,000
CAD).
2004-2005: Canadian Institutes of Health Research (CIHR), Institute of Genetics ShortTerm Research Visits, Canada, ($4,200
CAD).
2003-2004: Burroughs-Welcome, .
($1,800 CAD)

1.2
- 26
. a 5
.
(Best talk award)

18
(Best poster award).
, y .
M32 (
):
1. Tarailo-Graovac, M., and van Karnebeek, C. D. Garrod Symposium, Platform presentation
Successful development and application of semi-automated gene-discovery NGS
bioinformatics pipeline: Knowledge gained through Omics2TreatID. May. 2015. Vancouver,
Canada p.6.
2. Tarailo-Graovac, M., Horvath. G., and Wasserman, W. W., Leading the Workshop on the
Interpretation of Genomic Variants from Exome Sequencing. Canadian College of Medical
Geneticists Symposium, Vancouver, Canada. Nov. 2014. p.12, p.16.
M34 ( ):

3. Tarailo-Graovac, M., Horvath,G., Shyr,C., Salvarinova, R., Ye, C., Wevers, R. A., Stockler,
S. G., Wasserman, W. W, and van Karnebeek, C., Garrod Symposium,Clinical application of
omics technologies in the newborn setting Title: OMICS2TREATID: A collaborative
approach to accelerate the discovery of rare neuro-metabolic diseases. May. 2015.
Vancouver, Canada p.19.
4. van Karnebeek, C., Tarailo-Graovac, M., Van Allen, M., Dewan, T., Ross, C. J., Wasserman,
W. W., Kluijtmans, L., and Wevers. R., Garrod Symposium, NANS deficiency: first discovery of
a novel inborn error of metabolis by a combined high throughput metabolic screening &
genomics approach. May. 2015. Vancouver, Canada p.18.
5. Shyr, C., Tarailo-Graovac, M., Gottlieb, M., Lee, J.J.Y., van Karnebeek, C., and Wasserman,
W.W., Garrod Symposium, FLAGS: candidate gene prioritization scheme based on frequently
mutated genes in public exomes. May. 2015. Vancouver, Canada p.18.
6. Gottlieb, .., Arenillas, D.., Maithripala, S., Maurerd, Z.D., Tarailo-Graovac, M.,
Armstrong, L., Patel, M., van Karnebeek, C., and Wasserman, W.W., Garrod Symposium,
GeneYenta: A phenotype-based rare disease case matching tool based on online dating
algorithms for the acceleration of exome interpretation. May. 2015. Vancouver, Canada p.18.
7. Schuurs-Hoeijmakers, J. H. M., Landsverk, M. L., Foulds, N., Kukolich, M. K., Gavrilova, R.
H., Greville-Heygate, S., Hanson-Kwan, A., Bernstein, J. A., Glass, J., Chitaya, D., Burrow, T. A.,
Hopkin, R., Husami, A., Collins, K., Wusik, K., van der Aa, N., Kooy, F., Tatton Brown, K.,
Gadzicki, D., Kini, U., Alvarez, S., Fernndez-Jan, A., McGehee, F., van Karnebeek, C. D. M.,
Van Allen, M., Selby, K., Tarailo-Graovac, M., Stavropoulos, D. J., Marshall, C. R., Merico,
D., Gregor, A., Zweier, C., Hopkin, R., Wing-Yiu Chu, Y, Chung, B., Devriendt, K., Hurles, M.

19
E., and Brunner, H. G. Clinical delineation of the PACS1-related Syndrome. April. 2015.
IRCCS Oasi Maria SS. Troina, Italy. p.1.
8. Tarailo-Graovac, M., Sinclair , G., Stockler-Ipsiroglu S., Van Allen, M., Rozmus, J., Shyr, C.,
Sayson, B., Lafek, M., Ross, C. J., W. P.,Wasserman, W.W., Rossi, A., and van Karnebeek, C.
D. Next Generation Approach to the Discovery of Treatable Intellectual Disability Genes.
Wellcome Trust Conference: Genomic Disorders 2014: The Genomics of Rare Diseases.
Cambridge, UK. Mar. 2014. p.4.
9. Tarailo-Graovac, M., Wang, J., Chu, J. S. C., Tu, D., Baillie, D. L., and Chen, N. A genomewide view of variations in MAD1/mdf-1 and FANCJ/dog-1 defective C. elegans mutation
accumulation line after 470 generations. Northwest C. elegans meeting, Seattle, USA. Jun,
2013. p.4-5.
10. Tarailo-Graovac, M., Wang, J., Chu, J. S. C., Tu, D., Baillie, D. L., and Chen, N. A
genome-wide view of variations in MAD1/mdf-1 and FANCJ/dog-1 defective C. elegans
mutation accumulation line after 470 generations. Cell Biology Retreat Loon Lake, Canada.
May, 2013. p.6. THE BEST TALK AWARD
11. Tarailo-Graovac, M., Wang, J., Chu, J. S. C., Tu, D., Baillie, D. L., and Chen, N. Using
mutation accumulation lines and whole genome sequencing to identify dog-1/FANCJ induced
lesions that bypass MDF-1/Mad1 spindle assembly checkpoint requirement for survival.
Northwest C. elegans meeting, Vancouver, Canada. May, 2012.
12. Vergara, I. A., Tarailo-Graovac, M., Wang, J., She, R., Wang, K., and Chen, N. (2009)
Loss-of-Function mutations in a natural isolate of Caenorhabditis elegans. Genome Informatics
2010, Hinxton, United Kingdom, Sep, 2010. p.23.
13. Tarailo-Graovac, M., Wang, J., Chu, J. S. C., Tu, D., Baillie, D. L., and Chen, N.
Spatiotemporal analysis of promoter functions implicates spindle assembly checkpoint genes in
polyploidization in Caenorhabditis elegans. 17th International C. elegans Meeting, UCLA, June,
2009. p.111.
14. Tarailo, M., and Rose, A. M. such mutants bypass MAD and result in CIN. SeattleVancouver Area Worm Meeting, Fred Hutchinson Cancer Research Center, USA April 2007.

15. Sirrs,S., van Karnebeek, C.D., Peng, X., Shyr, C., Tarailo-Graovac, M., Mandal, R.,
Testa, D., Dubin, D., Carbonetti, G., Glynn, S. E., Sayson, B., Robinson, W. P., Han, B., Wishart,
D., Ross, C. J., Wasserman, W.W., Hurwitz, T. A., Sinclair, G., and Kaczocha, M. Garrod
Symposium, Title: Defects in fatty acid amide hydrolase 2 in a male with neurologic and
psychiatric symptoms and vertical gaze palsy. May. 2015. Vancouver, Canada p.25.
16. Al Shekaili, H., van Karnebeek, C., Al Thihli, K., Ross, C., Tarailo-Graovac, M., CoulterMakie, M., Han, X., Higginson, M., Zhang, L., Friedman, J. M., Garrod Symposium, Title:

20
Uncovering novel genetic variants in a consanguineous family with pyridoxine-dependent
epilepsy. May. 2015. Vancouver, Canada p.26.
17. Raki, B., Tarailo-Graovac, M., Hansen, D., Sinclair, G., Lehman, A., Vallance, H., van
Karnebeek, C., Garrod Symposium, Title: The N-acetylneuraminate pyruvate lyase (NPL) gene:
a novel cause of free sialic aciduria - but is there a clinical phenotype? May. 2015. Vancouver,
Canada p.24.
18. Anastasio, N., Tarailo-Graovac, M., Drogemoller, B., Al Khalifah, R., Legault, L., van
Karnebeek, C., Buhas, D., Insulin-responsive hyperglycemia and ketoacidosis: Neonatal
diabetes as a red herring for mitochondrial complex III deficiency. SSIEM August. 2015.
Lyon, France. S209.
19. Vergara, I. A., Tarailo-Graovac, M., Wang, J., Chen, N. (2011). Loss-of-Function
genomic variations in wild Caenorhabditis elegans. 18th International C. elegans Meeting,
UCLA, June, 2011. http://www.wormbase.org/resources/paper/WBPaper00038557
20. Chu, J. S. C., Tarailo-Graovac, M., Wang, J., Uyar, B., Tu, D., Trinh, J., Johnsen, B., Baillie,
D., Chen, N. (2011). Comparative genomics reveals novel regulatory mechanism for the
transcription factor RFX/DAF-19 in C. elegans. 18th International C. elegans Meeting, UCLA,
June, 2011. http://www.wormbase.org/resources/paper/WBPaper00039675#0--10
21. Vergara, I. A., Mah, A. K., Huang, J. C., Tarailo-Graovac, M., Johnsen, R. C., Baillie, D.
L., and Chen, N. Polymorphic segmental duplications in the nematode Caenorhabditis
elegans. 17th International C. elegans Meeting, UCLA, June, 2009. p.404. (Best Poster Award)
22. Tarailo, M., and Rose, A. M. such mutants bypass MDF-1/Mad1 requirement without
delaying mitosis. 16th International C. elegans Meeting, UCLA, June 2007. p.422.
23. Tarailo, M., and Rose, A. M. What can we learn from genetic interactions with the
spindle assembly checkpoint component MDF-1? 15th International C. elegans Meeting, UCLA,
June 2005. http://www.wormbase.org/resources/paper/WBPaper00026428#0--10.
24. Tarailo, M., and Rose, A.M. Functional Interactors of MDF-1, a spindle assembly
checkpoint component in Caenorhabditis elegans, West Coast Worm Meeting, UCSB, August
2004. http://www.wormbase.org/resources/paper/WBPaper00024035#0--10
25. Zhao, Y., Youds, J., Tarailo, M., Cheung, I., Lai, K., Tarailo, S., Yeung, M., and Rose, A.
M. Spaced-Out Worms, West Coast Worm Meeting, UCSB, August 2004.
http://www.wormbase.org/resources/paper/WBPaper00024081#0--10

26. Tarailo, M., and Rose, A.M. Suppressors of Mdf-1, metaphase to anaphase checkpoint in
Caenorhabditis elegans, 14th International C.elegans Meeting, UCLA, June 2003.
http://www.wormbase.org/resources/paper/WBPaper00019713#0--10

21
M36 ( ):
1. : 2016 American Medical Informatics Association (AMIA) Joint Summits
2. : 2015 American Medical Informatics Association (AMIA) Joint Summits
M71 ( )
1. Spindle Assembly Checkpoint and Chromosome Stability in Caenorhabditis elegans. 2007.
, ,
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American Medical Informatics Association (AMIA) Joint Summits 2014. ;

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Research Grants Council of Hong Kong 2013. ;

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Gene Researcher for a Week,
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22
, 2008. 2013. , C.
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23
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La Trobe (La Trobe University,
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24
( 5 7), -
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Rare Diseases

Foundation Microgrant When genome-wide sequencing does not find

the answer in rare diseases: unraveling somatic mosaicism
(2016-2017). $3,500 CAD. (PI: C van Karnebeek,
CoPI: M Tarailo-Graovac).
ii. - je : Genome
Variations that Drive Increased Fitness in MAD1 and FANCJ-Defective C. elegans
2011. Canadian Institutes of Health Research
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Fanconi . $152,084 CAD ($76,042
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Identification of genome variations that drive increased fitness in
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28
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1 DNA Repair (21; 19/131; IF= 5.868)
1 Human Mutation (21; 25/167; IF= 5.340)
2 a Cell Cycle (21; 44/185; IF= 5.321)
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29
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Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth
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30
Am J Hum Genet. 2016 Jan 7;98(1):202-9. (21; 6/167; IF= 10.931)

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The genotypic and phenotypic spectrum of PIGA deficiency.
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Spectrum of variations in dog-1/FANCJ and mdf-1/MAD1 defective Caenorhabditis elegans
strains after long-term propagation.
BMC Genomics. 2015 Mar 18;16:210. (21; 41/165; IF= 4.041)
Cyclin B3 and dynein heavy chain cooperate to increase fitness in the absence of mdf1/MAD1 in Caenorhabditis elegans.
Cell Cycle. 2014;13(19):3089-199. (21; 44/185; IF= 5.321)
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Synthetic lethal interactions identify phenotypic "interologs" of the spindle assembly
checkpoint components.
Genetics. 2007 Dec;177(4):2525-30. (21; 26/124; IF= 4.242)

31
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