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Endogenous hSNM1B/Apollo interacts with TRF2 and stimulates ATM in response to ionizing radiation. [electronic resource] by
- Demuth, Ilja
- Bradshaw, Paul S
- Lindner, Anika
- Anders, Marco
- Heinrich, Stefanie
- Kallenbach, Julia
- Schmelz, Karin
- Digweed, Martin
- Meyn, M Stephen
- Concannon, Patrick
Producer: 20081010
In:
DNA repair vol. 7
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Impaired telomere maintenance in Alazami syndrome patients with LARP7 deficiency. [electronic resource] by
- Holohan, Brody
- Kim, Wanil
- Lai, Tsung-Po
- Hoshiyama, Hirotoshi
- Zhang, Ning
- Alazami, Anas M
- Wright, Woodring E
- Meyn, M Stephen
- Alkuraya, Fowzan S
- Shay, Jerry W
Producer: 20170901
In:
BMC genomics vol. 17
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68.
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Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR. [electronic resource] by
- Spencer, Emily
- Davis, Julia
- Mikhail, Fady
- Fu, Chuanhua
- Vijzelaar, Raymon
- Zackai, Elaine H
- Feret, Holly
- Meyn, M Stephen
- Shugar, Andrea
- Bellus, Gary
- Kocsis, Kristina
- Kivirikko, Sirpa
- Pöyhönen, Minna
- Messiaen, Ludwine
Producer: 20110920
In:
American journal of medical genetics. Part A vol. 155A
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69.
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PhenoTips: patient phenotyping software for clinical and research use. [electronic resource] by
- Girdea, Marta
- Dumitriu, Sergiu
- Fiume, Marc
- Bowdin, Sarah
- Boycott, Kym M
- Chénier, Sébastien
- Chitayat, David
- Faghfoury, Hanna
- Meyn, M Stephen
- Ray, Peter N
- So, Joyce
- Stavropoulos, Dimitri J
- Brudno, Michael
Producer: 20140122
In:
Human mutation vol. 34
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70.
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DICER1 syndrome: Approach to testing and management at a large pediatric tertiary care center. [electronic resource] by
- van Engelen, Kalene
- Villani, Anita
- Wasserman, Jonathan D
- Aronoff, Laura
- Greer, Mary-Louise C
- Tijerin Bueno, Marta
- Gallinger, Bailey
- Kim, Raymond H
- Grant, Ronald
- Meyn, M Stephen
- Malkin, David
- Druker, Harriet
Producer: 20171201
In:
Pediatric blood & cancer vol. 65
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71.
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A distinctive DNA damage response in human hematopoietic stem cells reveals an apoptosis-independent role for p53 in self-renewal. [electronic resource] by
- Milyavsky, Michael
- Gan, Olga I
- Trottier, Magan
- Komosa, Martin
- Tabach, Ofer
- Notta, Faiyaz
- Lechman, Eric
- Hermans, Karin G
- Eppert, Kolja
- Konovalova, Zhanna
- Ornatsky, Olga
- Domany, Eytan
- Meyn, M Stephen
- Dick, John E
Producer: 20101112
In:
Cell stem cell vol. 7
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72.
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Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study. [electronic resource] by
- Cohn, Iris
- Paton, Tara A
- Marshall, Christian R
- Basran, Raveen
- Stavropoulos, Dimitri J
- Ray, Peter N
- Monfared, Nasim
- Hayeems, Robin Z
- Meyn, M Stephen
- Bowdin, Sarah
- Scherer, Stephen W
- Cohn, Ronald D
- Ito, Shinya
Publication details: NPJ genomic medicine 2017
In:
NPJ genomic medicine vol. 2
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73.
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Attenuated DNA damage responses and increased apoptosis characterize human hematopoietic stem cells exposed to irradiation. [electronic resource] by
- Biechonski, Shahar
- Olender, Leonid
- Zipin-Roitman, Adi
- Yassin, Muhammad
- Aqaqe, Nasma
- Marcu-Malina, Victoria
- Rall-Scharpf, Melanie
- Trottier, Magan
- Meyn, M Stephen
- Wiesmüller, Lisa
- Beider, Katia
- Raz, Yael
- Grisaru, Dan
- Nagler, Arnon
- Milyavsky, Michael
Producer: 20191007
In:
Scientific reports vol. 8
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74.
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The Atr and Atm protein kinases associate with different sites along meiotically pairing chromosomes. [electronic resource] by
- Keegan, K S
- Holtzman, D A
- Plug, A W
- Christenson, E R
- Brainerd, E E
- Flaggs, G
- Bentley, N J
- Taylor, E M
- Meyn, M S
- Moss, S B
- Carr, A M
- Ashley, T
- Hoekstra, M F
Producer: 19961127
In:
Genes & development vol. 10
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75.
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Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray. [electronic resource] by
- Hayeems, Robin Z
- Bhawra, Jasmin
- Tsiplova, Kate
- Meyn, M Stephen
- Monfared, Nasim
- Bowdin, Sarah
- Stavropoulos, D James
- Marshall, Christian R
- Basran, Raveen
- Shuman, Cheryl
- Ito, Shinya
- Cohn, Iris
- Hum, Courtney
- Girdea, Marta
- Brudno, Michael
- Cohn, Ronald D
- Scherer, Stephen W
- Ungar, Wendy J
Producer: 20180723
In:
European journal of human genetics : EJHG vol. 25
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76.
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Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing. [electronic resource] by
- Costain, Gregory
- Jobling, Rebekah
- Walker, Susan
- Reuter, Miriam S
- Snell, Meaghan
- Bowdin, Sarah
- Cohn, Ronald D
- Dupuis, Lucie
- Hewson, Stacy
- Mercimek-Andrews, Saadet
- Shuman, Cheryl
- Sondheimer, Neal
- Weksberg, Rosanna
- Yoon, Grace
- Meyn, M Stephen
- Stavropoulos, Dimitri J
- Scherer, Stephen W
- Mendoza-Londono, Roberto
- Marshall, Christian R
Producer: 20190214
In:
European journal of human genetics : EJHG vol. 26
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77.
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De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome. [electronic resource] by
- Costain, Gregory
- Callewaert, Bert
- Gabriel, Heinz
- Tan, Tiong Y
- Walker, Susan
- Christodoulou, John
- Lazar, Tamas
- Menten, Björn
- Orkin, Julia
- Sadedin, Simon
- Snell, Meaghan
- Vanlander, Arnaud
- Vergult, Sarah
- White, Susan M
- Scherer, Stephen W
- Hayeems, Robin Z
- Blaser, Susan
- Wodak, Shoshana J
- Chitayat, David
- Marshall, Christian R
- Meyn, M Stephen
Producer: 20190618
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 21
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78.
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The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists. [electronic resource] by
- Boycott, Kym
- Hartley, Taila
- Adam, Shelin
- Bernier, Francois
- Chong, Karen
- Fernandez, Bridget A
- Friedman, Jan M
- Geraghty, Michael T
- Hume, Stacey
- Knoppers, Bartha M
- Laberge, Anne-Marie
- Majewski, Jacek
- Mendoza-Londono, Roberto
- Meyn, M Stephen
- Michaud, Jacques L
- Nelson, Tanya N
- Richer, Julie
- Sadikovic, Bekim
- Skidmore, David L
- Stockley, Tracy
- Taylor, Sherry
- van Karnebeek, Clara
- Zawati, Ma'n H
- Lauzon, Julie
- Armour, Christine M
Producer: 20160315
In:
Journal of medical genetics vol. 52
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79.
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CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases. [electronic resource] by
- Kasak, Laura
- Hunter, Jesse M
- Udani, Rupa
- Bakolitsa, Constantina
- Hu, Zhiqiang
- Adhikari, Aashish N
- Babbi, Giulia
- Casadio, Rita
- Gough, Julian
- Guerrero, Rafael F
- Jiang, Yuxiang
- Joseph, Thomas
- Katsonis, Panagiotis
- Kotte, Sujatha
- Kundu, Kunal
- Lichtarge, Olivier
- Martelli, Pier Luigi
- Mooney, Sean D
- Moult, John
- Pal, Lipika R
- Poitras, Jennifer
- Radivojac, Predrag
- Rao, Aditya
- Sivadasan, Naveen
- Sunderam, Uma
- Saipradeep, V G
- Yin, Yizhou
- Zaucha, Jan
- Brenner, Steven E
- Meyn, M Stephen
Producer: 20200313
In:
Human mutation vol. 40
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80.
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Recommendations for the integration of genomics into clinical practice. [electronic resource] by
- Bowdin, Sarah
- Gilbert, Adel
- Bedoukian, Emma
- Carew, Christopher
- Adam, Margaret P
- Belmont, John
- Bernhardt, Barbara
- Biesecker, Leslie
- Bjornsson, Hans T
- Blitzer, Miriam
- D'Alessandro, Lisa C A
- Deardorff, Matthew A
- Demmer, Laurie
- Elliott, Alison
- Feldman, Gerald L
- Glass, Ian A
- Herman, Gail
- Hindorff, Lucia
- Hisama, Fuki
- Hudgins, Louanne
- Innes, A Micheil
- Jackson, Laird
- Jarvik, Gail
- Kim, Raymond
- Korf, Bruce
- Ledbetter, David H
- Li, Mindy
- Liston, Eriskay
- Marshall, Christian
- Medne, Livija
- Meyn, M Stephen
- Monfared, Nasim
- Morton, Cynthia
- Mulvihill, John J
- Plon, Sharon E
- Rehm, Heidi
- Roberts, Amy
- Shuman, Cheryl
- Spinner, Nancy B
- Stavropoulos, D James
- Valverde, Kathleen
- Waggoner, Darrel J
- Wilkens, Alisha
- Cohn, Ronald D
- Krantz, Ian D
Producer: 20170915
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 18
Availability: No items available.
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