-
Notifications
You must be signed in to change notification settings - Fork 0
/
poo.bbl
992 lines (872 loc) · 47.6 KB
/
poo.bbl
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
32
33
34
35
36
37
38
39
40
41
42
43
44
45
46
47
48
49
50
51
52
53
54
55
56
57
58
59
60
61
62
63
64
65
66
67
68
69
70
71
72
73
74
75
76
77
78
79
80
81
82
83
84
85
86
87
88
89
90
91
92
93
94
95
96
97
98
99
100
101
102
103
104
105
106
107
108
109
110
111
112
113
114
115
116
117
118
119
120
121
122
123
124
125
126
127
128
129
130
131
132
133
134
135
136
137
138
139
140
141
142
143
144
145
146
147
148
149
150
151
152
153
154
155
156
157
158
159
160
161
162
163
164
165
166
167
168
169
170
171
172
173
174
175
176
177
178
179
180
181
182
183
184
185
186
187
188
189
190
191
192
193
194
195
196
197
198
199
200
201
202
203
204
205
206
207
208
209
210
211
212
213
214
215
216
217
218
219
220
221
222
223
224
225
226
227
228
229
230
231
232
233
234
235
236
237
238
239
240
241
242
243
244
245
246
247
248
249
250
251
252
253
254
255
256
257
258
259
260
261
262
263
264
265
266
267
268
269
270
271
272
273
274
275
276
277
278
279
280
281
282
283
284
285
286
287
288
289
290
291
292
293
294
295
296
297
298
299
300
301
302
303
304
305
306
307
308
309
310
311
312
313
314
315
316
317
318
319
320
321
322
323
324
325
326
327
328
329
330
331
332
333
334
335
336
337
338
339
340
341
342
343
344
345
346
347
348
349
350
351
352
353
354
355
356
357
358
359
360
361
362
363
364
365
366
367
368
369
370
371
372
373
374
375
376
377
378
379
380
381
382
383
384
385
386
387
388
389
390
391
392
393
394
395
396
397
398
399
400
401
402
403
404
405
406
407
408
409
410
411
412
413
414
415
416
417
418
419
420
421
422
423
424
425
426
427
428
429
430
431
432
433
434
435
436
437
438
439
440
441
442
443
444
445
446
447
448
449
450
451
452
453
454
455
456
457
458
459
460
461
462
463
464
465
466
467
468
469
470
471
472
473
474
475
476
477
478
479
480
481
482
483
484
485
486
487
488
489
490
491
492
493
494
495
496
497
498
499
500
501
502
503
504
505
506
507
508
509
510
511
512
513
514
515
516
517
518
519
520
521
522
523
524
525
526
527
528
529
530
531
532
533
534
535
536
537
538
539
540
541
542
543
544
545
546
547
548
549
550
551
552
553
554
555
556
557
558
559
560
561
562
563
564
565
566
567
568
569
570
571
572
573
574
575
576
577
578
579
580
581
582
583
584
585
586
587
588
589
590
591
592
593
594
595
596
597
598
599
600
601
602
603
604
605
606
607
608
609
610
611
612
613
614
615
616
617
618
619
620
621
622
623
624
625
626
627
628
629
630
631
632
633
634
635
636
637
638
639
640
641
642
643
644
645
646
647
648
649
650
651
652
653
654
655
656
657
658
659
660
661
662
663
664
665
666
667
668
669
670
671
672
673
674
675
676
677
678
679
680
681
682
683
684
685
686
687
688
689
690
691
692
693
694
695
696
697
698
699
700
701
702
703
704
705
706
707
708
709
710
711
712
713
714
715
716
717
718
719
720
721
722
723
724
725
726
727
728
729
730
731
732
733
734
735
736
737
738
739
740
741
742
743
744
745
746
747
748
749
750
751
752
753
754
755
756
757
758
759
760
761
762
763
764
765
766
767
768
769
770
771
772
773
774
775
776
777
778
779
780
781
782
783
784
785
786
787
788
789
790
791
792
793
794
795
796
797
798
799
800
801
802
803
804
805
806
807
808
809
810
811
812
813
814
815
816
817
818
819
820
821
822
823
824
825
826
827
828
829
830
831
832
833
834
835
836
837
838
839
840
841
842
843
844
845
846
847
848
849
850
851
852
853
854
855
856
857
858
859
860
861
862
863
864
865
866
867
868
869
870
871
872
873
874
875
876
877
878
879
880
881
882
883
884
885
886
887
888
889
890
891
892
893
894
895
896
897
898
899
900
901
902
903
904
905
906
907
908
909
910
911
912
913
914
915
916
917
918
919
920
921
922
923
924
925
926
927
928
929
930
931
932
933
934
935
936
937
938
939
940
941
942
943
944
945
946
947
948
949
950
951
952
953
954
955
956
957
958
959
960
961
962
963
964
965
966
967
968
969
970
971
972
973
974
975
976
977
978
979
980
981
982
983
984
985
986
987
988
989
990
991
992
\begin{thebibliography}{100}
\bibitem{Abney2001}
Mark Abney, Mary~Sara McPeek, and Carole Ober.
\newblock {Broad and Narrow Heritabilities of Quantitative Traits in a Founder
Population}.
\newblock {\em The American Journal of Human Genetics}, 68(5):1302--1307, May
2001.
\bibitem{Abramowitz2012}
Lara~K Abramowitz and Marisa~S Bartolomei.
\newblock {Genomic imprinting: recognition and marking of imprinted loci}.
\newblock {\em Current opinion in genetics {\&} development}, 22(2):72--78,
April 2012.
\bibitem{Abreu:2013je}
Ana~Paula Abreu, Andrew Dauber, Delanie~B Macedo, Sekoni~D Noel, Vinicius~N
Brito, John~C Gill, Priscilla Cukier, Iain~R Thompson, Victor~M Navarro,
Priscila~C Gagliardi, T{\^a}nia Rodrigues, Cristiane Kochi, Carlos~Alberto
Longui, Dominique Beckers, Francis de~Zegher, Luciana~R Montenegro,
Berenice~B Mendonca, Rona~S Carroll, Joel~N Hirschhorn, Ana~Claudia
Latronico, and Ursula~B Kaiser.
\newblock {Central precocious puberty caused by mutations in the imprinted gene
MKRN3.}
\newblock {\em New England Journal of Medicine}, 368(26):2467--2475, June 2013.
\bibitem{Ainsworth:2010bp}
Holly~F Ainsworth, Jennifer Unwin, Deborah~L Jamison, and Heather~J Cordell.
\newblock {Investigation of maternal effects, maternal-fetal interactions and
parent-of-origin effects (imprinting), using mothers and their offspring}.
\newblock {\em Genetic Epidemiology}, 35(1):19--45, December 2010.
\bibitem{AlAdhami:2015dx}
Hala Al~Adhami, Brendan Evano, Anne Le~Digarcher, Charlotte Gueydan, Emeric
Dubois, Hugues Parrinello, Christelle Dantec, Tristan Bouschet, Annie
Varrault, and Laurent Journot.
\newblock {A systems-level approach to parental genomic imprinting: the
imprinted gene network includes extracellular matrix genes and regulates cell
cycle exit and differentiation.}
\newblock {\em Genome Research}, 25(3):353--367, March 2015.
\bibitem{Anders:2015gf}
S~Anders, P~T Pyl, and W~Huber.
\newblock {HTSeq--a Python framework to work with high-throughput sequencing
data}.
\newblock {\em Bioinformatics}, 31(2):166--169, January 2015.
\bibitem{Aryee:2014by}
Martin~J Aryee, Andrew~E Jaffe, Hector Corrada-Bravo, Christine Ladd-Acosta,
Andrew~P Feinberg, Kasper~D Hansen, and Rafael~A Irizarry.
\newblock {Minfi: a flexible and comprehensive Bioconductor package for the
analysis of Infinium DNA methylation microarrays.}
\newblock {\em Bioinformatics}, 30(10):1363--1369, May 2014.
\bibitem{Babak2012}
Tomas Babak.
\newblock {Identification of imprinted loci by transcriptome sequencing.}
\newblock {\em Methods in molecular biology (Clifton, N.J.)}, 925:79--88, 2012.
\bibitem{Babak2008}
Tomas Babak, Brian DeVeale, Christopher Armour, Christopher Raymond, Michele~A
Cleary, Derek van~der Kooy, Jason~M Johnson, and Lee~P Lim.
\newblock {Global Survey of Genomic Imprinting by Transcriptome Sequencing}.
\newblock {\em Current Biology}, 18(22):1735--1741, November 2008.
\bibitem{Babak2015}
Tomas Babak, Brian DeVeale, Emily~K Tsang, Yiqi Zhou, Xin Li, Kevin~S Smith,
Kim~R Kukurba, Rui Zhang, Jin~Billy Li, Derek van~der Kooy, Stephen~B
Montgomery, and Hunter~B Fraser.
\newblock {Genetic conflict reflected in tissue-specific maps of genomic
imprinting in human and mouse.}
\newblock {\em Nature genetics}, 47(5):544--549, May 2015.
\bibitem{Banovich:2014bn}
Nicholas~E Banovich, Xun Lan, Graham McVicker, Bryce van~de Geijn, Jacob~F
Degner, John~D Blischak, Julien Roux, Jonathan~K Pritchard, and Yoav Gilad.
\newblock {Methylation QTLs are associated with coordinated changes in
transcription factor binding, histone modifications, and gene expression
levels.}
\newblock {\em PLoS genetics}, 10(9):e1004663, September 2014.
\bibitem{Baran:2015cx}
Yael Baran, Meena Subramaniam, Anne Biton, Taru Tukiainen, Emily~K Tsang,
Manuel~A Rivas, Matti Pirinen, Maria Gutierrez-Arcelus, Kevin~S Smith, Kim~R
Kukurba, Rui Zhang, Celeste Eng, Dara~G Torgerson, Cydney Urbanek, {GTEx
Consortium}, Jin~Billy Li, Jose~R Rodriguez-Santana, Esteban~G Burchard,
Max~A Seibold, Daniel~G MacArthur, Stephen~B Montgomery, Noah~A Zaitlen, and
Tuuli Lappalainen.
\newblock {The landscape of genomic imprinting across diverse adult human
tissues.}
\newblock {\em Genome Research}, 25(7):927--936, July 2015.
\bibitem{Barlow:2014dv}
D~P Barlow and M~S Bartolomei.
\newblock {Genomic Imprinting in Mammals}.
\newblock {\em Cold Spring Harbor Perspectives in Biology},
6(2):a018382--a018382, February 2014.
\bibitem{Benonisdottir:2016dz}
Stefania Benonisdottir, Asmundur Oddsson, Agnar Helgason, Ragnar~P
Kristjansson, Gardar Sveinbjornsson, Arna Oskarsdottir, Gudmar Thorleifsson,
Olafur~B Davidsson, Gudny~A Arnadottir, Gerald Sulem, Brynjar~O Jensson,
Hilma Holm, Kristjan~F Alexandersson, Laufey Tryggvadottir, G~Bragi Walters,
Sigurjon~A Gudjonsson, Lucas~D Ward, Jon~K Sigurdsson, Paul~D Iordache,
Michael~L Frigge, Thorunn Rafnar, Augustine Kong, Gisli Masson, Hannes
Helgason, Unnur Thorsteinsdottir, Daniel~F Gudbjartsson, Patrick Sulem, and
Kari Stefansson.
\newblock {Epigenetic and genetic components of height regulation}.
\newblock {\em Nature Communications}, 7:13490, November 2016.
\bibitem{Boucher:2014gk}
Jeremie Boucher, Marika Charalambous, Kim Zarse, Marcelo~A Mori, Andre
Kleinridders, Michael Ristow, Anne~C Ferguson-Smith, and C~Ronald Kahn.
\newblock {Insulin and insulin-like growth factor 1 receptors are required for
normal expression of imprinted genes.}
\newblock {\em Proceedings of the National Academy of Sciences of the United
States of America}, 111(40):14512--14517, October 2014.
\bibitem{Brideau:2010gz}
C~M Brideau, K~E Eilertson, J~A Hagarman, C~D Bustamante, and P~D Soloway.
\newblock {Successful Computational Prediction of Novel Imprinted Genes from
Epigenomic Features}.
\newblock {\em Molecular and Cellular Biology}, 30(13):3357--3370, June 2010.
\bibitem{Buiting:2010ci}
Karin Buiting.
\newblock {Prader-Willi syndrome and Angelman syndrome.}
\newblock {\em American journal of medical genetics. Part C, Seminars in
medical genetics}, 154C(3):365--376, August 2010.
\bibitem{Canoy:2015ha}
D~Canoy, V~Beral, A~Balkwill, F~L Wright, M~E Kroll, G~K Reeves, J~Green, B~J
Cairns, and {for the Million Women Study Collaborators*}.
\newblock {Age at Menarche and Risks of Coronary Heart and Other Vascular
Diseases in a Large UK Cohort}.
\newblock {\em Circulation}, 131(3):237--244, January 2015.
\bibitem{Cattanach:1985hu}
B~M Cattanach and M~Kirk.
\newblock {Differential activity of maternally and paternally derived
chromosome regions in mice}.
\newblock {\em Nature}, 315(6019):496--498, June 1985.
\bibitem{Chandra:1975tb}
H~S Chandra and S~W Brown.
\newblock {Chromosome imprinting and the mammalian X chromosome.}
\newblock {\em Nature}, 253(5488):165--168, January 1975.
\bibitem{Chess:2016fs}
Andrew Chess.
\newblock {Monoallelic Gene Expression in Mammals}.
\newblock {\em Annual Review of Genetics}, 50(1):317--327, November 2016.
\bibitem{Choufani:2010ca}
Sanaa Choufani, Cheryl Shuman, and Rosanna Weksberg.
\newblock {Beckwith-Wiedemann syndrome.}
\newblock {\em American journal of medical genetics. Part C, Seminars in
medical genetics}, 154C(3):343--354, August 2010.
\bibitem{Chuang:2017kp}
Trees-Juen Chuang, Yu-Hsiang Tseng, Chia-Ying Chen, and Yi-Da Wang.
\newblock {Assessment of imprinting- and genetic variation-dependent
monoallelic expression using reciprocal allele descendants between human
family trios}.
\newblock 7(1):1--12, July 2017.
\bibitem{Court:2014kc}
Franck Court, Chiharu Tayama, Valeria Romanelli, Alex Martin-Trujillo, Isabel
Iglesias-Platas, Kohji Okamura, Naoko Sugahara, Carlos Sim{\'o}n, Harry
Moore, Julie~V Harness, Hans Keirstead, Jose~Vicente Sanchez-Mut, Eisuke
Kaneki, Pablo Lapunzina, Hidenobu Soejima, Norio Wake, Manel Esteller,
Tsutomu Ogata, Kenichiro Hata, Kazuhiko Nakabayashi, and David Monk.
\newblock {Genome-wide parent-of-origin DNA methylation analysis reveals the
intricacies of human imprinting and suggests a germline
methylation-independent mechanism of establishment.}
\newblock {\em Genome Research}, 24(4):554--569, April 2014.
\bibitem{Crouse:1960vc}
H~V Crouse.
\newblock {The Controlling Element in Sex Chromosome Behavior in Sciara.}
\newblock {\em Genetics}, 45(10):1429--1443, October 1960.
\bibitem{Cusanovich:2016id}
Darren~A Cusanovich, Minal Caliskan, Christine Billstrand, Katelyn Michelini,
Claudia Chavarria, Sherryl De~Leon, Amy Mitrano, Noah Lewellyn, Jack~A Elias,
Geoffrey~L Chupp, Roberto~M Lang, Sanjiv~J Shah, Jeanne~M Decara, Yoav Gilad,
and Carole Ober.
\newblock {Integrated analyses of gene expression and genetic association
studies in a founder population.}
\newblock {\em Human Molecular Genetics}, 25(10):2104--2112, May 2016.
\bibitem{Daelemans:2010kc}
Caroline Daelemans, Matthew~E Ritchie, Guillaume Smits, Sayeda Abu-Amero, Ian~M
Sudbery, Matthew~S Forrest, Susana Campino, Taane~G Clark, Philip Stanier,
Dominic Kwiatkowski, Panos Deloukas, Emmanouil~T Dermitzakis, Simon
Tavar{\'e}, Gudrun~E Moore, and Ian Dunham.
\newblock {High-throughput analysis of candidate imprinted genes and
allele-specific gene expression in the human term placenta.}
\newblock {\em BMC genetics}, 11(1):25, April 2010.
\bibitem{Demenais:2018hy}
Florence Demenais, Patricia Margaritte-Jeannin, Kathleen~C Barnes, William O~C
Cookson, Janine Altm{\"u}ller, Wei Ang, R~Graham Barr, Terri~H Beaty, Allan~B
Becker, John Beilby, Hans Bisgaard, Unnur~Steina Bjornsdottir, Eugene
Bleecker, Klaus B{\o}nnelykke, Dorret~I Boomsma, Emmanuelle Bouzigon,
Christopher~E Brightling, Myriam Brossard, Guy~G Brusselle, Esteban Burchard,
Kristin~M Burkart, Andrew Bush, Moira Chan-Yeung, Kian~Fan Chung,
Alexessander Couto~Alves, John~A Curtin, Adnan Custovic, Denise Daley,
Johan~C de~Jongste, Blanca~E Del-Rio-Navarro, Kathleen~M Donohue, Liesbeth
Duijts, Celeste Eng, Johan~G Eriksson, Martin Farrall, Yuliya Fedorova,
Bjarke Feenstra, Manuel~A Ferreira, {Australian Asthma Genetics Consortium
(AAGC) collaborators}, Maxim~B Freidin, Zofia Gajdos, Jim Gauderman, Ulrike
Gehring, Frank Geller, Jon Genuneit, Sina~A Gharib, Frank Gilliland, Raquel
Granell, Penelope~E Graves, Daniel~F Gudbjartsson, Tari Haahtela, Susan~R
Heckbert, Dick Heederik, Joachim Heinrich, Markku Heli{\"o}vaara, John
Henderson, Blanca~E Himes, Hiroshi Hirose, Joel~N Hirschhorn, Albert Hofman,
Patrick Holt, Jouke Hottenga, Thomas~J Hudson, Jennie Hui, Medea Imboden,
Vladimir Ivanov, Vincent W~V Jaddoe, Alan James, Christer Janson,
Marjo-Riitta Jarvelin, Deborah Jarvis, Graham Jones, Ingileif Jonsdottir,
Pekka Jousilahti, Michael Kabesch, Mika K{\"a}h{\"o}nen, David~B Kantor,
Alexandra~S Karunas, Elza Khusnutdinova, Gerard~H Koppelman, Anita~L
Kozyrskyj, Eskil Kreiner, Michiaki Kubo, Rajesh Kumar, Ashish Kumar, Mikko
Kuokkanen, Lies Lahousse, Tarja Laitinen, Catherine Laprise, Mark Lathrop,
Susanne Lau, Young-Ae Lee, Terho Lehtim{\"a}ki, S{\'e}bastien Letort,
Albert~M Levin, Guo Li, Liming Liang, Laura~R Loehr, Stephanie~J London,
Daan~W Loth, Ani Manichaikul, Ingo Marenholz, Fernando~J Martinez, Melanie~C
Matheson, Rasika~A Mathias, Kenji Matsumoto, Hamdi Mbarek, Wendy~L McArdle,
Mads Melbye, Erik Mel{\'e}n, Deborah Meyers, Sven Michel, Hamida Mohamdi,
Arthur~W Musk, Rachel~A Myers, Maartje A~E Nieuwenhuis, Emiko Noguchi,
George~T O{\textquoteright}Connor, Ludmila~M Ogorodova, Cameron~D Palmer,
Aarno Palotie, Julie~E Park, Craig~E Pennell, G{\"o}ran Pershagen, Alexey
Polonikov, Dirkje~S Postma, Nicole Probst-Hensch, Valery~P Puzyrev,
Benjamin~A Raby, Olli~T Raitakari, Adaikalavan Ramasamy, Stephen~S Rich,
Colin~F Robertson, Isabelle Romieu, Muhammad~T Salam, Veikko Salomaa, Vivi
Schl{\"u}nssen, Robert Scott, Polina~A Selivanova, Torben Sigsgaard, Angela
Simpson, Val{\'e}rie Siroux, Lewis~J Smith, Maria Solodilova, Marie Standl,
Kari Stefansson, David~P Strachan, Bruno~H Stricker, Atsushi Takahashi,
Philip~J Thompson, Gudmar Thorleifsson, Unnur Thorsteinsdottir, Carla M~T
Tiesler, Dara~G Torgerson, Tatsuhiko Tsunoda, Andr{\'e}~G Uitterlinden, Ralf
J~P van~der Valk, Amaury Vaysse, Sailaja Vedantam, Andrea von Berg, Erika von
Mutius, Judith~M Vonk, Johannes Waage, Nick~J Wareham, Scott~T Weiss, Wendy~B
White, Magnus Wickman, Elisabeth Wid{\'e}n, Gonneke Willemsen, L~Keoki
Williams, Inge~M Wouters, James~J Yang, Jing~Hua Zhao, Miriam~F Moffatt,
Carole Ober, and Dan~L Nicolae.
\newblock {Multiancestry association study identifies new asthma risk loci that
colocalize with immune-cell enhancer marks.}
\newblock {\em Nature genetics}, 50(1):42--53, January 2018.
\bibitem{Dobin:2002by}
Alexander Dobin and Thomas~R Gingeras.
\newblock {\em {Mapping RNA-seq Reads with STAR}}, volume~29 of {\em Mapping
RNA-seq Reads with STAR}.
\newblock John Wiley {\&} Sons, Inc., Hoboken, NJ, USA, August 2002.
\bibitem{Docherty:2014cx}
Louise~E Docherty, Faisal~I Rezwan, Rebecca~L Poole, Hannah Jagoe, Hannah Lake,
Gabrielle~A Lockett, Hasan Arshad, David~I Wilson, John~W Holloway, I~Karen
Temple, and Deborah J~G Mackay.
\newblock {Genome-wide DNA methylation analysis of patients with imprinting
disorders identifies differentially methylated regions associated with novel
candidate imprinted genes.}
\newblock {\em Journal of medical genetics}, 51(4):229--238, April 2014.
\bibitem{Du:2008ev}
Pan Du, Warren~A Kibbe, and Simon~M Lin.
\newblock {lumi: a pipeline for processing Illumina microarray.}
\newblock {\em Bioinformatics}, 24(13):1547--1548, July 2008.
\bibitem{Eggermann:2010gl}
Thomas Eggermann.
\newblock {Russell-Silver syndrome.}
\newblock {\em American journal of medical genetics. Part C, Seminars in
medical genetics}, 154C(3):355--364, August 2010.
\bibitem{Eichler:2010kd}
Evan~E Eichler, Jonathan Flint, Greg Gibson, Augustine Kong, Suzanne~M Leal,
Jason~H Moore, and Joseph~H Nadeau.
\newblock {Missing heritability and strategies for finding the underlying
causes of complex disease.}
\newblock {\em Nature reviews. Genetics}, 11(6):446--450, June 2010.
\bibitem{Elli:2016et}
Francesca~Marta Elli, Agnes Linglart, Intza Garin, Luisa de~Sanctis, Paolo
Bordogna, Virginie Grybek, Arrate Pereda, Federica Giachero, Elisa Verrua,
Patrick Hanna, Giovanna Mantovani, and Guiomar Perez~de Nanclares.
\newblock {The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort
of Patients Characterized by the EuroPHP Network.}
\newblock {\em The Journal of clinical endocrinology and metabolism},
101(10):3657--3668, October 2016.
\bibitem{Falls1999}
J~Greg Falls, David~J Pulford, Andrew~A Wylie, and Randy~L Jirtle.
\newblock {Genomic Imprinting: Implications for Human Disease}.
\newblock {\em The American Journal of Pathology}, 154(3):635--647, March 1999.
\bibitem{Fountain:2017dd}
Michael~D Fountain, Emmelien Aten, Megan~T Cho, Jane Juusola, Magdalena~A
Walkiewicz, Joseph~W Ray, Fan Xia, Yaping Yang, Brett~H Graham, Carlos~A
Bacino, Lorraine Potocki, Arie van Haeringen, Claudia A~L Ruivenkamp, {MD},
Pedro Mancias, Hope Northrup, Mary~K Kukolich, Marjan~M Weiss, Conny M~A van
Ravenswaaij-Arts, Inge~B Mathijssen, Sebastien Levesque, Naomi Meeks, Jill~A
Rosenfeld, Danielle Lemke, Ada Hamosh, Suzanne~K Lewis, Simone Race, Laura~L
Stewart, Beverly Hay, Andrea~M Lewis, Rita~L Guerreiro, Jose~T Bras, Marcia~P
Martins, Gerarda Derksen-Lubsen, Els Peeters, Connie Stumpel, Sander
Stegmann, Levinus~A Bok, Gijs W~E Santen, and Christian~P Schaaf.
\newblock {The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected
individuals from 14 families.}
\newblock {\em Genetics in medicine : official journal of the American College
of Medical Genetics}, 19(1):45--52, January 2017.
\bibitem{Gabory:2009be}
A~Gabory, M~A Ripoche, A~Le~Digarcher, F~Watrin, A~Ziyyat, T~Forne, H~Jammes,
J~F~X Ainscough, M~A Surani, L~Journot, and L~Dandolo.
\newblock {H19 acts as a trans regulator of the imprinted gene network
controlling growth in mice}.
\newblock {\em Development}, 136(20):3413--3421, September 2009.
\bibitem{Garg2012a}
Paras Garg, Christelle Borel, and Andrew~J Sharp.
\newblock {Detection of Parent-of-Origin Specific Expression Quantitative Trait
Loci by Cis-Association Analysis of Gene Expression in Trios}.
\newblock {\em PLoS ONE}, 7(8):e41695, August 2012.
\bibitem{Gibson:2012kc}
Greg Gibson.
\newblock {Rare and common variants: twenty arguments.}
\newblock {\em Nature reviews. Genetics}, 13(2):135--145, January 2012.
\bibitem{Consortium2015}
{GTEx Consortium}.
\newblock {Human genomics. The Genotype-Tissue Expression (GTEx) pilot
analysis: multitissue gene regulation in humans.}
\newblock {\em Science}, 348(6235):648--660, May 2015.
\bibitem{Haig:2000if}
David Haig.
\newblock {The Kinship Theory of Genomic Imprinting}.
\newblock {\em Annual Review of Ecology and Systematics}, 31(1):9--32, November
2000.
\bibitem{Hatada:1995jf}
I~Hatada and T~Mukai.
\newblock {Genomic imprinting of p57KIP2, a cyclin-dependent kinase inhibitor,
in mouse.}
\newblock {\em Nature genetics}, 11(2):204--206, October 1995.
\bibitem{Hoffmann:2014ki}
Ann-Kathrin Hoffmann, Xenia Naj, and Stefan Linder.
\newblock {Daam1 is a regulator of filopodia formation and phagocytic uptake of
Borrelia burgdorferi by primary human macrophages.}
\newblock {\em FASEB journal : official publication of the Federation of
American Societies for Experimental Biology}, 28(7):3075--3089, July 2014.
\bibitem{Howey:2012hj}
Richard Howey and Heather~J Cordell.
\newblock {PREMIM and EMIM: tools for estimation of maternal, imprinting and
interaction effects using multinomial modelling.}
\newblock {\em BMC Bioinformatics}, 13(1):149, June 2012.
\bibitem{Igartua:2017ir}
Catherine Igartua, Sahar~V Mozaffari, Dan~L Nicolae, and Carole Ober.
\newblock {Rare non-coding variants are associated with plasma lipid traits in
a founder population.}
\newblock {\em Scientific reports}, 7(1):16415, November 2017.
\bibitem{Ioannides:2014ka}
Yiannis Ioannides, Kemi Lokulo-Sodipe, Deborah J~G Mackay, Justin~H Davies, and
I~Karen Temple.
\newblock {Temple syndrome: improving the recognition of an underdiagnosed
chromosome 14 imprinting disorder: an analysis of 51 published cases.}
\newblock {\em Journal of medical genetics}, 51(8):495--501, August 2014.
\bibitem{Jirtle:2007jm}
Randy Jirtle and Jennifer Weidman.
\newblock {Imprinted and More Equal}.
\newblock {\em American Scientist}, 95(2):143, 2007.
\bibitem{Johnson:1974uf}
D~R Johnson.
\newblock {Hairpin-tail: a case of post-reductional gene action in the mouse
egg.}
\newblock {\em Genetics}, 76(4):795--805, April 1974.
\bibitem{Johnson:2007fp}
W~Evan Johnson, Cheng Li, and Ariel Rabinovic.
\newblock {Adjusting batch effects in microarray expression data using
empirical Bayes methods.}
\newblock {\em Biostatistics (Oxford, England)}, 8(1):118--127, January 2007.
\bibitem{Joshi:2016bb}
Ricky~S Joshi, Paras Garg, Noah Zaitlen, Tuuli Lappalainen, Corey~T Watson,
Nidha Azam, Daniel Ho, Xin Li, Stylianos~E Antonarakis, Han~G Brunner, Karin
Buiting, Sau~Wai Cheung, Bradford Coffee, Thomas Eggermann, David Francis,
Joep~P Geraedts, Giorgio Gimelli, Samuel~G Jacobson, Cedric Le~Caignec,
Nicole de~Leeuw, Thomas Liehr, Deborah~J Mackay, Stephen~B Montgomery,
Alistair~T Pagnamenta, Peter Papenhausen, David~O Robinson, Claudia
Ruivenkamp, Charles Schwartz, Bernhard Steiner, David~A Stevenson, Urvashi
Surti, Thomas Wassink, and Andrew~J Sharp.
\newblock {DNA Methylation Profiling of Uniparental Disomy Subjects Provides a
Map of Parental Epigenetic Bias in the Human Genome.}
\newblock {\em American journal of human genetics}, 99(3):555--566, September
2016.
\bibitem{Jun:2012je}
Goo Jun, Matthew Flickinger, Kurt~N Hetrick, Jane~M Romm, Kimberly~F Doheny,
Goncalo~R Abecasis, Michael Boehnke, and Hyun~Min Kang.
\newblock {Detecting and Estimating Contamination of Human DNA Samples in
Sequencing and Array-Based Genotype Data}.
\newblock {\em The American Journal of Human Genetics}, 91(5):839--848,
November 2012.
\bibitem{Kagami:2015gn}
Masayo Kagami, Kenji Kurosawa, Osamu Miyazaki, Fumitoshi Ishino, Kentaro
Matsuoka, and Tsutomu Ogata.
\newblock {Comprehensive clinical studies in 34 patients with molecularly
defined UPD(14)pat and related conditions (Kagami-Ogata syndrome).}
\newblock {\em European Journal of Human Genetics}, 23(11):1488--1498, November
2015.
\bibitem{Kagami:2017gp}
Masayo Kagami, Keiko Matsubara, Kazuhiko Nakabayashi, Akie Nakamura, Shinichiro
Sano, {MD}, Kohji Okamura, {PhD1}, Kenichiro Hata, Maki Fukami, Tsutomu
Ogata, and {PhD2}.
\newblock {Genome-wide multilocus imprinting disturbance analysis in Temple
syndrome and Kagami-Ogata syndrome.}
\newblock {\em Genetics in medicine : official journal of the American College
of Medical Genetics}, 19(4):476--482, April 2017.
\bibitem{Kalish:2014gd}
Jennifer~M Kalish, Connie Jiang, and Marisa~S Bartolomei.
\newblock {Epigenetics and imprinting in human disease.}
\newblock {\em The International journal of developmental biology},
58(2-4):291--298, 2014.
\bibitem{Kang:2015ko}
Lihua Kang, Jingnan Sun, Xue Wen, Jiuwei Cui, Guanjun Wang, Andrew~R Hoffman,
Ji-Fan Hu, and Wei Li.
\newblock {Aberrant allele-switch imprinting of a novel IGF1R intragenic
antisense non-coding RNA in breast cancers.}
\newblock {\em European journal of cancer (Oxford, England : 1990)},
51(2):260--270, January 2015.
\bibitem{Kong:2009kk}
Augustine Kong, Valgerdur Steinthorsdottir, Gisli Masson, Gudmar Thorleifsson,
Patrick Sulem, Soren Besenbacher, Aslaug Jonasdottir, Asgeir Sigurdsson,
Kari~Th Kristinsson, Adalbjorg Jonasdottir, Michael~L Frigge, Arnaldur
Gylfason, Pall~I Olason, Sigurjon~A Gudjonsson, Sverrir Sverrisson, Simon~N
Stacey, Bardur Sigurgeirsson, Kristrun~R Benediktsdottir, Helgi Sigurdsson,
Thorvaldur Jonsson, Rafn Benediktsson, Jon~H Olafsson, Oskar~Th Johannsson,
Astradur~B Hreidarsson, Gunnar Sigurdsson, {DIAGRAM Consortium}, Anne~C
Ferguson-Smith, Daniel~F Gudbjartsson, Unnur Thorsteinsdottir, and Kari
Stefansson.
\newblock {Parental origin of sequence variants associated with complex
diseases.}
\newblock {\em Nature}, 462(7275):868--874, December 2009.
\bibitem{Kono:2006jj}
T~Kono.
\newblock {Genomic imprinting is a barrier to parthenogenesis in mammals.}
\newblock {\em Cytogenetic and genome research}, 113(1-4):31--35, 2006.
\bibitem{Laurin:2017jv}
Charles~A Laurin, Gabriel Cuellar-Partida, Gibran Hemani, George Davey~Smith,
Jian Yang, and David~M Evans.
\newblock {Partitioning Phenotypic Variance Due To Parent-Of-Origin Effects
Using Genomic Relatedness Matrices}.
\newblock {\em bioRxiv}, pages 1--41, May 2017.
\bibitem{Lawson2013}
Heather~A Lawson, James~M Cheverud, and Jason~B Wolf.
\newblock {Genomic imprinting and parent-of-origin effects on complex traits}.
\newblock {\em Nature reviews. Genetics}, 14(9):609--617, August 2013.
\bibitem{Leek:2012ee}
Jeffrey~T Leek, W~Evan Johnson, Hilary~S Parker, Andrew~E Jaffe, and John~D
Storey.
\newblock {The sva package for removing batch effects and other unwanted
variation in high-throughput experiments.}
\newblock {\em Bioinformatics}, 28(6):882--883, March 2012.
\bibitem{Li:2004km}
Juan Li, Anthony~J Bench, George~S Vassiliou, Nasios Fourouclas, Anne~C
Ferguson-Smith, and Anthony~R Green.
\newblock {Imprinting of the human L3MBTL gene, a polycomb family member
located in a region of chromosome 20 deleted in human myeloid malignancies.}
\newblock {\em Proceedings of the National Academy of Sciences},
101(19):7341--7346, May 2004.
\bibitem{Li:2017bq}
Xin Li, Yungil Kim, Emily~K Tsang, Joe~R Davis, Farhan~N Damani, Colby Chiang,
Gaelen~T Hess, Zachary Zappala, Benjamin~J Strober, Alexandra~J Scott, Amy
Li, Andrea Ganna, Michael~C Bassik, Jason~D Merker, {GTEx Consortium},
{Laboratory, Data Analysis {\&}Coordinating Center
(LDACC){\textemdash}Analysis Working Group}, {Statistical Methods
groups{\textemdash}Analysis Working Group}, {Enhancing GTEx (eGTEx) groups},
{NIH Common Fund}, {NIH/NCI}, {NIH/NHGRI}, {NIH/NIMH}, {NIH/NIDA},
{Biospecimen Collection Source Site{\textemdash}NDRI}, {Biospecimen
Collection Source Site{\textemdash}RPCI}, {Biospecimen Core
Resource{\textemdash}VARI}, {Brain Bank Repository{\textemdash}University of
Miami Brain Endowment Bank}, {Leidos Biomedical{\textemdash}Project
Management}, {ELSI Study}, {Genome Browser Data Integration
{\&}Visualization{\textemdash}EBI}, {Genome Browser Data Integration
{\&}Visualization{\textemdash}UCSC Genomics Institute, University of
California Santa Cruz}, Ira~M Hall, Alexis Battle, and Stephen~B Montgomery.
\newblock {The impact of rare variation on gene expression across tissues.}
\newblock {\em Nature}, 550(7675):239--243, October 2017.
\bibitem{Livne2015}
Oren~E Livne, Lide Han, Gorka Alkorta-Aranburu, William Wentworth-Sheilds, Mark
Abney, Carole Ober, and Dan~L Nicolae.
\newblock {PRIMAL: Fast and Accurate Pedigree-based Imputation from Sequence
Data in a Founder Population}.
\newblock {\em PLOS Computational Biology}, 11(3):e1004139, March 2015.
\bibitem{Lokody2014}
Isabel Lokody.
\newblock {Gene expression: Consequences of parent-of-origin effects}.
\newblock {\em Nature reviews. Genetics}, 15(3):145--145, January 2014.
\bibitem{Luedi:2007ib}
Philippe~P Luedi, Fred~S Dietrich, Jennifer~R Weidman, Jason~M Bosko, Randy~L
Jirtle, and Alexander~J Hartemink.
\newblock {Computational and experimental identification of novel human
imprinted genes.}
\newblock {\em Genome Research}, 17(12):1723--1730, December 2007.
\bibitem{Luo:2016db}
Weiwei Luo, Zi~Zhao Lieu, Ed~Manser, Alexander~D Bershadsky, and Michael~P
Sheetz.
\newblock {Formin DAAM1 Organizes Actin Filaments in the Cytoplasmic Nodal
Actin Network}.
\newblock {\em PLoS ONE}, 11(10):e0163915--22, October 2016.
\bibitem{Lyon:1984gh}
Mary~F Lyon and Sohaila Rastan.
\newblock {Parental source of chromosome imprinting and its relevance for X
chromosome inactivation}.
\newblock {\em Differentiation}, 26(1):63--67, June 1984.
\bibitem{Mackay:2006bv}
D~J~G Mackay, S~E Boonen, J~Clayton-Smith, J~Goodship, J~M~D Hahnemann, S~G
Kant, P~R Nj{\o}lstad, N~H Robin, D~O Robinson, R~Siebert, J~P~H Shield, H~E
White, and I~K Temple.
\newblock {A maternal hypomethylation syndrome presenting as transient neonatal
diabetes mellitus.}
\newblock {\em Human Genetics}, 120(2):262--269, September 2006.
\bibitem{Mackay:2017kn}
Deborah J~G Mackay and I~Karen Temple.
\newblock {Human imprinting disorders: Principles, practice, problems and
progress.}
\newblock {\em European journal of medical genetics}, 60(11):618--626, November
2017.
\bibitem{Maksimovic:2012ib}
Jovana Maksimovic, Lavinia Gordon, and Alicia Oshlack.
\newblock {SWAN: Subset-quantile within array normalization for illumina
infinium HumanMethylation450 BeadChips.}
\newblock {\em Genome biology}, 13(6):R44, June 2012.
\bibitem{Mantovani:2016em}
Giovanna Mantovani, Anna Spada, and Francesca~Marta Elli.
\newblock {Pseudohypoparathyroidism and Gs$\alpha$-cAMP-linked disorders:
current view and open issues.}
\newblock {\em Nature Reviews Endocrinology}, 12(6):347--356, June 2016.
\bibitem{Martin:2011eu}
Marcel Martin.
\newblock {Cutadapt removes adapter sequences from high-throughput sequencing
reads}.
\newblock {\em EMBnet.journal}, 17(1):10, August 2011.
\bibitem{Matsuoka:1996uq}
S~Matsuoka, J~S Thompson, M~C Edwards, J~M Bartletta, P~Grundy, L~M Kalikin,
J~W Harper, S~J Elledge, and A~P Feinberg.
\newblock {Imprinting of the gene encoding a human cyclin-dependent kinase
inhibitor, p57KIP2, on chromosome 11p15.}
\newblock {\em Proceedings of the National Academy of Sciences},
93(7):3026--3030, April 1996.
\bibitem{McGrath:1984ky}
James McGrath and Davor Solter.
\newblock {Completion of mouse embryogenesis requires both the maternal and
paternal genomes}.
\newblock {\em Cell}, 37(1):179--183, May 1984.
\bibitem{Morison2005}
Ian~M Morison, Joshua~P Ramsay, and Hamish~G Spencer.
\newblock {A census of mammalian imprinting}.
\newblock {\em Trends in Genetics}, 21(8):457--465, August 2005.
\bibitem{Mott2014}
Richard Mott, Wei Yuan, Pamela Kaisaki, Xiangchao Gan, James Cleak, Andrew
Edwards, Amelie Baud, and Jonathan Flint.
\newblock {The Architecture of Parent-of-Origin Effects in Mice}.
\newblock {\em Cell}, 156(1-2):332--342, January 2014.
\bibitem{Mulchandani:2016kf}
Surabhi Mulchandani, Elizabeth~J Bhoj, Minjie Luo, Nina Powell-Hamilton, Kim
Jenny, Karen~W Gripp, Miriam Elbracht, Thomas Eggermann, Claire L~S Turner,
I~Karen Temple, Deborah J~G Mackay, Holly Dubbs, David~A Stevenson, Leah
Slattery, Elaine~H Zackai, Nancy~B Spinner, Ian~D Krantz, and Laura~K Conlin.
\newblock {Maternal uniparental disomy of chromosome 20: a novel imprinting
disorder of growth failure.}
\newblock {\em Genetics in medicine : official journal of the American College
of Medical Genetics}, 18(4):309--315, April 2016.
\bibitem{Nicholls:vh}
R~D Nicholls, JHM Knoll, M~G Butler, and S~Karam Nature.
\newblock {Genetic imprinting suggested by maternal heterodisomy in
non-deletion Prader-Willi syndrome}.
\newblock {\em nature.com}, 1989.
\bibitem{NicodemusJohnson:2016go}
Jessie Nicodemus-Johnson, Rachel~A Myers, Noburu~J Sakabe, Debora~R Sobreira,
Douglas~K Hogarth, Edward~T Naureckas, Anne~I Sperling, Julian Solway,
Steven~R White, Marcelo~A Nobrega, Dan~L Nicolae, Yoav Gilad, and Carole
Ober.
\newblock {DNA methylation in lung cells is associated with asthma endotypes
and genetic risk.}
\newblock {\em JCI insight}, 1(20):e90151, December 2016.
\bibitem{Nicolae2010}
Dan~L Nicolae, Eric Gamazon, Wei Zhang, Shiwei Duan, M~Eileen Dolan, and
Nancy~J Cox.
\newblock {Trait-Associated SNPs Are More Likely to Be eQTLs: Annotation to
Enhance Discovery from GWAS}.
\newblock {\em PLoS genetics}, 6(4):e1000888, April 2010.
\bibitem{Nilsson:2013jy}
Mats~I Nilsson, Aliyah~A Nissar, Dhuha Al-Sajee, Mark~A Tarnopolsky, Gianni
Parise, Boleslav Lach, Dieter~O F{\"u}rst, Peter F~M van~der Ven, Rudolf~A
Kley, and Thomas~J Hawke.
\newblock {Xin Is a Marker of Skeletal Muscle Damage Severity in Myopathies}.
\newblock {\em The American Journal of Pathology}, 183(6):1703--1709, December
2013.
\bibitem{Ober:2016ga}
Carole Ober.
\newblock {Asthma Genetics in the Post-GWAS Era.}
\newblock {\em Annals of the American Thoracic Society}, 13 Suppl 1:S85--90,
March 2016.
\bibitem{Ober:2001dy}
Carole Ober, Mark Abney, and Mary~Sara McPeek.
\newblock {The Genetic Dissection of Complex Traits in a Founder Population}.
\newblock {\em The American Journal of Human Genetics}, 69(5):1068--1079,
November 2001.
\bibitem{Ogata:2016jb}
Tsutomu Ogata and Masayo Kagami.
\newblock {Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and
related disorder affecting the chromosome 14q32.2 imprinted region.}
\newblock {\em Journal of human genetics}, 61(2):87--94, February 2016.
\bibitem{Okae:2011hj}
Hiroaki Okae, Hitoshi Hiura, Yuichiro Nishida, Ryo Funayama, Satoshi Tanaka,
Hatsune Chiba, Nobuo Yaegashi, Keiko Nakayama, Hiroyuki Sasaki, and Takahiro
Arima.
\newblock {Re-investigation and RNA sequencing-based identification of genes
with placenta-specific imprinted expression}.
\newblock {\em Human Molecular Genetics}, 21(3):548--558, October 2011.
\bibitem{OLeary:2016cm}
Nuala~A O'Leary, Mathew~W Wright, J~Rodney Brister, Stacy Ciufo, Diana Haddad,
Rich McVeigh, Bhanu Rajput, Barbara Robbertse, Brian Smith-White, Danso
Ako-Adjei, Alexander Astashyn, Azat Badretdin, Yiming Bao, Olga Blinkova,
Vyacheslav Brover, Vyacheslav Chetvernin, Jinna Choi, Eric Cox, Olga
Ermolaeva, Catherine~M Farrell, Tamara Goldfarb, Tripti Gupta, Daniel Haft,
Eneida Hatcher, Wratko Hlavina, Vinita~S Joardar, Vamsi~K Kodali, Wenjun Li,
Donna Maglott, Patrick Masterson, Kelly~M McGarvey, Michael~R Murphy,
Kathleen O'Neill, Shashikant Pujar, Sanjida~H Rangwala, Daniel Rausch,
Lillian~D Riddick, Conrad Schoch, Andrei Shkeda, Susan~S Storz, Hanzhen Sun,
Francoise Thibaud-Nissen, Igor Tolstoy, Raymond~E Tully, Anjana~R Vatsan,
Craig Wallin, David Webb, Wendy Wu, Melissa~J Landrum, Avi Kimchi, Tatiana
Tatusova, Michael DiCuccio, Paul Kitts, Terence~D Murphy, and Kim~D Pruitt.
\newblock {Reference sequence (RefSeq) database at NCBI: current status,
taxonomic expansion, and functional annotation}.
\newblock {\em Nucleic Acids Research}, 44(D1):D733--D745, January 2016.
\bibitem{Pariante:2016kn}
Paolo Pariante, Raffaele Dotolo, Massimo Venditti, Diana Ferrara, Aldo
Donizetti, Francesco Aniello, and Sergio Minucci.
\newblock {First Evidence of DAAM1 Localization During the Post-Natal
Development of Rat Testis and in Mammalian Sperm.}
\newblock {\em Journal of cellular physiology}, 231(10):2172--2184, October
2016.
\bibitem{Patten:2016cb}
Manus~M Patten, Michael Cowley, Rebecca~J Oakey, and Robert Feil.
\newblock {Regulatory links between imprinted genes: evolutionary predictions
and consequences}.
\newblock {\em Proceedings of the Royal Society B: Biological Sciences},
283(1824):20152760, February 2016.
\bibitem{Paper2014b}
John~Rb Perry, Felix Day, Cathy~E Elks, Patrick Sulem, Deborah~J Thompson,
Teresa Ferreira, Chunyan He, Daniel~I Chasman, T{\~o}nu Esko, Gudmar
Thorleifsson, Eva Albrecht, Wei~Q Ang, Tanguy Corre, Diana~L Cousminer,
Bjarke Feenstra, Nora Franceschini, Andrea Ganna, Andrew~D Johnson, Sanela
Kjellqvist, Kathryn~L Lunetta, George McMahon, Ilja~M Nolte, Lavinia
Paternoster, Eleonora Porcu, Albert~V Smith, Lisette Stolk, Alexander Teumer,
Natalia T{\v s}ernikova, Emmi Tikkanen, Sheila Ulivi, Erin~K Wagner, Najaf
Amin, Laura~J Bierut, Enda~M Byrne, Jouke-Jan Hottenga, Daniel~L Koller,
Massimo Mangino, Tune~H Pers, Laura~M Yerges-Armstrong, Jing~Hua Zhao,
Irene~L Andrulis, Hoda Anton-Culver, Femke Atsma, Stefania Bandinelli,
Matthias~W Beckmann, Javier Benitez, Carl Blomqvist, Stig~E Bojesen,
Manjeet~K Bolla, Bernardo Bonanni, Hiltrud Brauch, Hermann Brenner, Julie~E
Buring, Jenny Chang-Claude, Stephen Chanock, Jinhui Chen, Georgia
Chenevix-Trench, J~Margriet Coll{\'e}e, Fergus~J Couch, David Couper,
Andrea~D Coveillo, Angela Cox, Kamila Czene, Adamo~Pio D'adamo, George~Davey
Smith, Immaculata De~Vivo, Ellen~W Demerath, Joe Dennis, Peter Devilee,
Aida~K Dieffenbach, Alison~M Dunning, Gudny Eiriksdottir, Johan~G Eriksson,
Peter~A Fasching, Luigi Ferrucci, Dieter Flesch-Janys, Henrik Flyger, Tatiana
Foroud, Lude Franke, Melissa~E Garcia, Montserrat Garc{\'\i}a-Closas, Frank
Geller, Eco~Ej de~Geus, Graham~G Giles, Daniel~F Gudbjartsson, Vilmundur
Gudnason, Pascal Gu{\'e}nel, Suiqun Guo, Per Hall, Ute Hamann, Robin Haring,
Catharina~A Hartman, Andrew~C Heath, Albert Hofman, Maartje~J Hooning, John~L
Hopper, Frank~B Hu, David~J Hunter, David Karasik, Douglas~P Kiel, Julia~A
Knight, Veli-Matti Kosma, Zolt{\'a}n Kutalik, Sandra Lai, Diether Lambrechts,
Annika Lindblom, Reedik M{\"a}gi, Patrik~K Magnusson, Arto Mannermaa,
Nicholas~G Martin, Gisli Masson, Patrick~F McArdle, Wendy~L McArdle, Mads
Melbye, Kyriaki Michailidou, Evelin Mihailov, Lili Milani, Roger~L Milne,
Heli Nevanlinna, Patrick Neven, Ellen~A Nohr, Albertine~J Oldehinkel, Ben~A
Oostra, Aarno Palotie, Munro Peacock, Nancy~L Pedersen, Paolo Peterlongo,
Julian Peto, Paul~Dp Pharoah, Dirkje~S Postma, Anneli Pouta, Katri
Pylk{\"a}s, Paolo Radice, Susan Ring, Fernando Rivadeneira, Antonietta
Robino, Lynda~M Rose, Anja Rudolph, Veikko Salomaa, Serena Sanna, David
Schlessinger, Marjanka~K Schmidt, Mellissa~C Southey, Ulla Sovio, Meir~J
Stampfer, Doris St{\"o}ckl, Anna~M Storniolo, Nicholas~J Timpson, Jonathan
Tyrer, Jenny~A Visser, Peter Vollenweider, Henry V{\"o}lzke, Gerard Waeber,
Melanie Waldenberger, Henri Wallaschofski, Qin Wang, Gonneke Willemsen,
Robert Winqvist, Bruce~Hr Wolffenbuttel, Margaret~J Wright, {Australian
Ovarian Cancer Study}, {GENICA Network}, {kConFab}, {LifeLines Cohort Study},
{InterAct Consortium}, {Early Growth Genetics (EGG) Consortium}, Dorret~I
Boomsma, Michael~J Econs, Kay-Tee Khaw, Ruth~Jf Loos, Mark~I McCarthy,
Grant~W Montgomery, John~P Rice, Elizabeth~A Streeten, Unnur
Thorsteinsdottir, Cornelia~M van Duijn, Behrooz~Z Alizadeh, Sven Bergmann,
Eric Boerwinkle, Heather~A Boyd, Laura Crisponi, Paolo Gasparini, Christian
Gieger, Tamara~B Harris, Erik Ingelsson, Marjo-Riitta Jarvelin, Peter Kraft,
Debbie Lawlor, Andres Metspalu, Craig~E Pennell, Paul~M Ridker, Harold
Snieder, Thorkild~Ia S{\o}rensen, Tim~D Spector, David~P Strachan,
Andr{\'e}~G Uitterlinden, Nicholas~J Wareham, Elisabeth Wid{\'e}n, Marek
Zygmunt, Anna Murray, Douglas~F Easton, Kari Stefansson, Joanne~M Murabito,
and Ken~K Ong.
\newblock {Parent-of-origin-specific allelic associations among 106 genomic
loci for age at menarche.}
\newblock {\em Nature}, 514(7520):92--97, October 2014.
\bibitem{Peters2014}
Jo~Peters.
\newblock {The role of genomic imprinting in biology and disease: an expanding
view.}
\newblock {\em Nature reviews. Genetics}, 15(8):517--530, August 2014.
\bibitem{Pires2014}
Nuno~D Pires and Ueli Grossniklaus.
\newblock {Different yet similar: evolution of imprinting in flowering plants
and mammals}.
\newblock {\em F1000Prime Reports}, 6, August 2014.
\bibitem{Proudhon:2011eh}
C~Proudhon and D~Bourc'his.
\newblock {Identification and resolution of artifacts in the interpretation of
imprinted gene expression}.
\newblock {\em Briefings in Functional Genomics}, 9(5-6):374--384, January
2011.
\bibitem{Reik:1989el}
Wolf Reik.
\newblock {Genomic imprinting and genetic disorders in man}.
\newblock {\em Trends in Genetics}, 5:332--336, January 1989.
\bibitem{Johnson:1974kc}
DR~Johnson~Genetics Research and {1974}.
\newblock {Further observations on the hairpin-tail (Thp) mutation in the
mouse}.
\newblock {\em cambridge.org}, 24(02):207, April 2009.
\bibitem{Robinson:2010cw}
Mark~D Robinson, Davis~J McCarthy, and Gordon~K Smyth.
\newblock {edgeR: a Bioconductor package for differential expression analysis
of digital gene expression data.}
\newblock {\em Bioinformatics}, 26(1):139--140, January 2010.
\bibitem{Robinson:2010dd}
Mark~D Robinson and Alicia Oshlack.
\newblock {A scaling normalization method for differential expression analysis
of RNA-seq data.}
\newblock {\em Genome biology}, 11(3):R25, 2010.
\bibitem{Santoni:2017hu}
Federico~A Santoni, Georgios Stamoulis, Marco Garieri, Emilie Falconnet,
Pascale Ribaux, Christelle Borel, and Stylianos~E Antonarakis.
\newblock {Detection of Imprinted Genes by Single-Cell Allele-Specific Gene
Expression.}
\newblock {\em American journal of human genetics}, 100(3):444--453, March
2017.
\bibitem{Sapienza:1989vm}
C~Sapienza.
\newblock {Genome imprinting and dominance modification.}
\newblock {\em Annals of the New York Academy of Sciences}, 564:24--38, 1989.
\bibitem{Servin:2007gj}
Bertrand Servin and Matthew Stephens.
\newblock {Imputation-Based Analysis of Association Studies: Candidate Regions
and Quantitative Traits}.
\newblock {\em PLoS genetics}, 3(7):e114, 2007.
\bibitem{Stein:2016hn}
Michelle~M Stein, Cara~L Hrusch, Justyna Gozdz, Catherine Igartua, Vadim
Pivniouk, Sean~E Murray, Julie~G Ledford, Mauricius Marques~dos Santos,
Rebecca~L Anderson, Nervana Metwali, Julia~W Neilson, Raina~M Maier, Jack~A
Gilbert, Mark Holbreich, Peter~S Thorne, Fernando~D Martinez, Erika von
Mutius, Donata Vercelli, Carole Ober, and Anne~I Sperling.
\newblock {Innate Immunity and Asthma Risk in Amish and Hutterite Farm
Children.}
\newblock {\em New England Journal of Medicine}, 375(5):411--421, August 2016.
\bibitem{StrichmanAlmashanu:2003cw}
Liora~Z Strichman-Almashanu, Michael Bustin, and David Landsman.
\newblock {Retroposed copies of the HMG genes: a window to genome dynamics.}
\newblock {\em Genome Research}, 13(5):800--812, May 2003.
\bibitem{Stridh2014}
Pernilla Stridh, Sabrina Ruhrmann, Petra Bergman, M{\'e}lanie
Thess{\'e}n~Hedreul, Sevasti Flytzani, Amennai~Daniel Beyeen, Alan Gillett,
Nina Krivosija, Johan {\"O}ckinger, Anne~C Ferguson-Smith, and Maja Jagodic.
\newblock {Parent-of-Origin Effects Implicate Epigenetic Regulation of
Experimental Autoimmune Encephalomyelitis and Identify Imprinted Dlk1 as a
Novel Risk Gene}.
\newblock {\em PLoS genetics}, 10(3):e1004265, March 2014.
\bibitem{Sun:2014eq}
Jingnan Sun, Wei Li, Yunpeng Sun, Dehai Yu, Xue Wen, Hong Wang, Jiuwei Cui,
Guanjun Wang, Andrew~R Hoffman, and Ji-Fan Hu.
\newblock {A novel antisense long noncoding RNA within the IGF1R gene locus is
imprinted in hematopoietic malignancies.}
\newblock {\em Nucleic acids research}, 42(15):9588--9601, September 2014.
\bibitem{Surani1984}
M~A~H Surani, S~C Barton, and M~L Norris.
\newblock {Development of reconstituted mouse eggs suggests imprinting of the
genome during gametogenesis}.
\newblock {\em Nature}, 308(5959):548--550, April 1984.
\bibitem{Szafranski:2016fz}
Przemyslaw Szafranski, Tomasz Gambin, Avinash~V Dharmadhikari, Kadir~Caner
Akdemir, Shalini~N Jhangiani, Jennifer Schuette, Nihal Godiwala, Svetlana~A
Yatsenko, Jessica Sebastian, Suneeta Madan-Khetarpal, Urvashi Surti,
Rosanna~G Abellar, David~A Bateman, Ashley~L Wilson, Melinda~H Markham, Jill
Slamon, Fernando Santos-Simarro, Mar{\'\i}a Palomares, Juli{\'a}n Nevado,
Pablo Lapunzina, Brian Hon-Yin Chung, Wai-Lap Wong, Yoyo Wing~Yiu Chu, Gary
Tsz~Kin Mok, Eitan Kerem, Joel Reiter, Namasivayam Ambalavanan, Scott~A
Anderson, David~R Kelly, Joseph Shieh, Taryn~C Rosenthal, Kristin Scheible,
Laurie Steiner, M~Anwar Iqbal, Margaret~L McKinnon, Sara~Jane Hamilton,
Kamilla Schlade-Bartusiak, Dawn English, Glenda Hendson, Elizabeth~R Roeder,
Thomas~S DeNapoli, Rebecca~Okashah Littlejohn, Daynna~J Wolff, Carol~L
Wagner, Alison Yeung, David Francis, Elizabeth~K Fiorino, Morris Edelman,
Joyce Fox, Denise~A Hayes, Sandra Janssens, Elfride De~Baere, Bj{\"o}rn
Menten, Anne Loccufier, Lieve Vanwalleghem, Philippe Moerman, Yves Sznajer,
Amy~S Lay, Jennifer~L Kussmann, Jasneek Chawla, Diane~J Payton, Gael~E
Phillips, Erwin Brosens, Dick Tibboel, Annelies de~Klein, Isabelle Maystadt,
Richard Fisher, Neil Sebire, Alison Male, Maya Chopra, Jason Pinner, Girvan
Malcolm, Gregory Peters, Susan Arbuckle, Melissa Lees, Zoe Mead, Oliver
Quarrell, Richard Sayers, Martina Owens, Charles Shaw-Smith, Janet Lioy,
Eileen McKay, Nicole de~Leeuw, Ilse Feenstra, Liesbeth Spruijt, Frances
Elmslie, Timothy Thiruchelvam, Carlos~A Bacino, Claire Langston, James~R
Lupski, Partha Sen, Edwina Popek, and Pawe{\l} Stankiewicz.
\newblock {Pathogenetics of alveolar capillary dysplasia with misalignment of
pulmonary veins}.
\newblock {\em Human Genetics}, 135(5):569--586, April 2016.
\bibitem{Takagi:1975ua}
N~Takagi and M~Sasaki.
\newblock {Preferential inactivation of the paternally derived X chromosome in
the extraembryonic membranes of the mouse.}
\newblock {\em Nature}, 256(5519):640--642, August 1975.
\bibitem{vandeGeijn:2015hi}
Bryce van~de Geijn, Graham McVicker, Yoav Gilad, and Jonathan~K Pritchard.
\newblock {WASP: allele-specific software for robust molecular quantitative
trait locus discovery}.
\newblock {\em Nature Methods}, 12(11):1061--1063, November 2015.
\bibitem{Varrault:2006kn}
Annie Varrault, Charlotte Gueydan, Annie Delalbre, Anja Bellmann, Souheir
Houssami, Cindy Aknin, Dany Severac, Laetitia Chotard, Malik Kahli, Anne
Le~Digarcher, Paul Pavlidis, and Laurent Journot.
\newblock {Zac1 Regulates an Imprinted Gene Network Critically Involved in the
Control of Embryonic Growth}.
\newblock {\em Developmental Cell}, 11(5):711--722, November 2006.
\bibitem{Wakeling:2017kv}
Emma~L Wakeling, Fr{\'e}d{\'e}ric Brioude, Oluwakemi Lokulo-Sodipe, Susan~M
O'Connell, Jennifer Salem, Jet Bliek, Ana P~M Canton, Krystyna~H Chrzanowska,
Justin~H Davies, Renuka~P Dias, B{\'e}atrice Dubern, Miriam Elbracht, Eloise
Giabicani, Adda Grimberg, Karen Gr{\o}nskov, Anita C~S Hokken-Koelega,
Alexander~A Jorge, Masayo Kagami, Agnes Linglart, Mohamad Maghnie, Klaus
Mohnike, David Monk, Gudrun~E Moore, Philip~G Murray, Tsutomu Ogata,
Isabelle~Oliver Petit, Silvia Russo, Edith Said, Meropi Toumba, Zeynep
T{\"u}mer, Gerhard Binder, Thomas Eggermann, Madeleine~D Harbison, I~Karen
Temple, Deborah J~G Mackay, and Ir{\`e}ne Netchine.
\newblock {Diagnosis and management of Silver-Russell syndrome: first
international consensus statement.}
\newblock In {\em Nature reviews. Endocrinology}, pages 105--124. North West
Thames Regional Genetics Service, London North West Healthcare NHS Trust,
Watford Road, Harrow HA1 3UJ, UK., Nature Publishing Group, February 2017.
\bibitem{Wang:2014jg}
Qinchuan Wang, Jenny Li-Chun Lin, Albert~J Erives, Cheng-I Lin, and Jim
Jung-Ching Lin.
\newblock {New insights into the roles of Xin repeat-containing proteins in
cardiac development, function, and disease.}
\newblock {\em International review of cell and molecular biology},
310:89--128, 2014.
\bibitem{Wang:2009bt}
Y~Wang, J~R O'Connell, P~F McArdle, J~B Wade, S~E Dorff, S~J Shah, X~Shi,
L~Pan, E~Rampersaud, H~Shen, J~D Kim, A~R Subramanya, N~I Steinle, A~Parsa,
C~C Ober, P~A Welling, A~Chakravarti, A~B Weder, R~S Cooper, B~D Mitchell,
A~R Shuldiner, and Y~P~C Chang.
\newblock {Whole-genome association study identifies STK39 as a hypertension
susceptibility gene}.
\newblock {\em Proceedings of the National Academy of Sciences},
106(1):226--231, January 2009.
\bibitem{Weinberg:1998cf}
C~R Weinberg, A~J Wilcox, and R~T Lie.
\newblock {A Log-Linear Approach to Case-Parent{\textendash}Triad Data:
Assessing Effects of Disease Genes That Act Either Directly or through
Maternal Effects and That May Be Subject to Parental Imprinting}.
\newblock {\em The American Journal of Human Genetics}, 62(4):969--978, April
1998.
\bibitem{Weinberg:1999km}
Clarice~R Weinberg.
\newblock {Methods for Detection of Parent-of-Origin Effects in Genetic Studies
of Case-Parents Triads}.
\newblock {\em The American Journal of Human Genetics}, 65(1):229--235, July
1999.
\bibitem{Weiss:2005cq}
Lauren~A Weiss, Mark Abney, Edwin~H Cook~Jr., and Carole Ober.
\newblock {Sex-Specific Genetic Architecture of Whole Blood Serotonin Levels}.
\newblock {\em The American Journal of Human Genetics}, 76(1):33--41, January
2005.
\bibitem{WellcomeTrustCaseControlConsortium:2007do}
{Wellcome Trust Case Control Consortium}, Peter Donnelly, Willem~H Ouwehand,
Nick Craddock, Nilesh~J Samani, John~A Todd, Mark~I McCarthy, Jeffrey~C
Barrett, Andrew~P Morris, Lon~R Cardon, Chris C~A Spencer, Matthew~A Brown,
Panos Deloukas, Martin Farrall, Alistair~S Hall, Andrew~T Hattersley,
Christopher~G Mathew, and Miles Parkes.
\newblock {Genome-wide association study of 14,000 cases of seven common
diseases and 3,000 shared controls.}
\newblock {\em Nature}, 447(7145):661--678, June 2007.
\bibitem{Zaitlen2013}
Noah Zaitlen, Peter Kraft, Nick Patterson, Bogdan Pasaniuc, Gaurav Bhatia,
Samuela Pollack, and Alkes~L Price.
\newblock {Using Extended Genealogy to Estimate Components of Heritability for
23 Quantitative and Dichotomous Traits}.
\newblock {\em PLoS genetics}, 9(5):e1003520, May 2013.
\bibitem{Zhou2012}
Xiang Zhou and Matthew Stephens.
\newblock {Genome-wide efficient mixed-model analysis for association studies}.
\newblock {\em Nature Genetics}, 44(7):821--824, June 2012.
\bibitem{Zoledziewska:2015do}
Magdalena Zoledziewska, Carlo Sidore, Charleston W~K Chiang, Serena Sanna,
Antonella Mulas, Maristella Steri, Fabio Busonero, Joseph~H Marcus, Michele
Marongiu, Andrea Maschio, Diego Ortega Del~Vecchyo, Matteo Floris, Antonella
Meloni, Alessandro Delitala, Maria~Pina Concas, Federico Murgia, Ginevra
Biino, Simona Vaccargiu, Ramaiah Nagaraja, Kirk~E Lohmueller, {UK10K
Consortium}, Nicholas~J Timpson, Nicole Soranzo, Ioanna Tachmazidou, George
Dedoussis, Eleftheria Zeggini, {Understanding Society Scientific Group},
Sergio Uzzau, Chris Jones, Robert Lyons, Andrea Angius, Goncalo~R Abecasis,
John Novembre, David Schlessinger, and Francesco Cucca.
\newblock {Height-reducing variants and selection for short stature in
Sardinia.}
\newblock {\em Nature genetics}, 47(11):1352--1356, November 2015.
\bibitem{Zuk:cc}
O~Zuk, E~Hechter, SR~Sunyaev Proceedings~of the, and {2012}.
\newblock {The mystery of missing heritability: Genetic interactions create
phantom heritability}.
\newblock {\em National Acad Sciences}, 2012.
\end{thebibliography}