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Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences.
Published in:
Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.00957
By:
- Manshaei, Roozbeh;
- Merico, Daniele;
- Reuter, Miriam S.;
- Engchuan, Worrawat;
- Mojarad, Bahareh A.;
- Chaturvedi, Rajiv;
- Heung, Tracy;
- Pellecchia, Giovanna;
- Zarrei, Mehdi;
- Nalpathamkalam, Thomas;
- Khan, Reem;
- Okello, John B. A.;
- Liston, Eriskay;
- Curtis, Meredith;
- Yuen, Ryan K. C.;
- Marshall, Christian R.;
- Jobling, Rebekah K.;
- Oechslin, Erwin;
- Wald, Rachel M.;
- Silversides, Candice K.
Publication type:
Article
CAOS—Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss.
Published in:
Journal of Child Neurology, 2015, v. 30, n. 13, p. 1749, doi. 10.1177/0883073815579708
By:
- Heimer, Gali;
- Sadaka, Yair;
- Israelian, Lori;
- Feiglin, Ariel;
- Ruggieri, Alessandra;
- Marshall, Christian R.;
- Scherer, Stephen W.;
- Ganelin-Cohen, Esther;
- Marek-Yagel, Dina;
- Tzadok, Michal;
- Nissenkorn, Andreea;
- Anikster, Yair;
- Minassian, Berge A.;
- Zeev, Bruria Ben
Publication type:
Article
Genome sequencing among children with medical complexity: What constitutes value from parents' perspective?
Published in:
Journal of Genetic Counseling, 2022, v. 31, n. 2, p. 523, doi. 10.1002/jgc4.1522
By:
- Lee, Whiwon;
- Luca, Stephanie;
- Costain, Gregory;
- Snell, Meaghan;
- Marano, Maria;
- Curtis, Meredith;
- Dunsmore, Kourtney;
- Veenma, Danielle;
- Walker, Susan;
- Cohn, Ronald D.;
- Marshall, Christian R.;
- Cohen, Eyal;
- Meyn, M. Stephen;
- Orkin, Julia;
- Hayeems, Robin Z.
Publication type:
Article
PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.
Published in:
2015
By:
- Jobling, Rebekah K;
- Assoum, Mirna;
- Gakh, Oleksandr;
- Blaser, Susan;
- Raiman, Julian A;
- Mignot, Cyril;
- Roze, Emmanuel;
- Dürr, Alexandra;
- Brice, Alexis;
- Lévy, Nicolas;
- Prasad, Chitra;
- Paton, Tara;
- Paterson, Andrew D;
- Roslin, Nicole M;
- Marshall, Christian R;
- Desvignes, Jean-Pierre;
- Roëckel-Trevisiol, Nathalie;
- Scherer, Stephen W;
- Rouleau, Guy A;
- Mégarbané, André
Publication type:
journal article
Mild Idiopathic Infantile Hypercalcemia--Part 1: Biochemical and Genetic Findings.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2021, v. 106, n. 10, p. 2915, doi. 10.1210/clinem/dgab431
By:
- Lenherr-Taube, Nina;
- Young, Edwin J.;
- Furman, Michelle;
- Elia, Yesmino;
- Assor, Esther;
- Chitayat, David;
- Uster, Tami;
- Kirwin, Susan;
- Robbins, Katherine;
- Vinette, Kathleen M. B.;
- Daneman, Alan;
- Marshall, Christian R.;
- Collins, Carol;
- Thummel, Kenneth;
- Sochett, Etienne;
- Levine, Michael A.
Publication type:
Article
Analysis of five deep-sequenced trio-genomes of the Peninsular Malaysia Orang Asli and North Borneo populations.
Published in:
BMC Genomics, 2019, v. 20, n. 1, p. 1, doi. 10.1186/s12864-019-6226-8
By:
- Deng, Lian;
- Lou, Haiyi;
- Zhang, Xiaoxi;
- Thiruvahindrapuram, Bhooma;
- Lu, Dongsheng;
- Marshall, Christian R.;
- Liu, Chang;
- Xie, Bo;
- Xu, Wanxing;
- Wong, Lai-Ping;
- Yew, Chee-Wei;
- Farhang, Aghakhanian;
- Ong, Rick Twee-Hee;
- Hoque, Mohammad Zahirul;
- Thuhairah, Abdul Rahman;
- Jong, Bhak;
- Phipps, Maude E.;
- Scherer, Stephen W.;
- Teo, Yik-Ying;
- Kumar, Subbiah Vijay
Publication type:
Article
Adult neuropsychiatric expression and familial segregation of 2q13 duplications.
Published in:
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2014, v. 165B, n. 4, p. 337, doi. 10.1002/ajmg.b.32236
By:
- Costain, Gregory;
- Lionel, Anath C.;
- Fu, Fiona;
- Stavropoulos, Dimitri J.;
- Gazzellone, Matthew J.;
- Marshall, Christian R.;
- Scherer, Stephen W.;
- Bassett, Anne S.
Publication type:
Article
Long‐read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63522
By:
- Del Gobbo, Giulia F.;
- Wang, Xueqi;
- Couse, Madeline;
- Mackay, Layla;
- Goldsmith, Claire;
- Marshall, Aren E.;
- Liang, Yijing;
- Lambert, Christine;
- Zhang, Siyuan;
- Dhillon, Harsharan;
- Fanslow, Cairbre;
- Rowell, William J.;
- Marshall, Christian R.;
- Kernohan, Kristin D.;
- Boycott, Kym M.
Publication type:
Article
Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challenges.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3129, doi. 10.1002/ajmg.a.62389
By:
- Walker, Susan;
- Lamoureux, Sylvia;
- Khan, Tayyaba;
- Joynt, Alyssa C. M.;
- Bradley, Melissa;
- Branson, Helen M.;
- Carter, Melissa T.;
- Hayeems, Robin Z.;
- Jagiello, Lukasz;
- Marshall, Christian R.;
- Meyn, M. Stephen;
- Miller, Steven P.;
- Wilson, Diane;
- Scherer, Stephen W.;
- Blaser, Susan;
- Mireskandari, Kamiar;
- Costain, Gregory
Publication type:
Article
A novel intronic variant in UBE3A identified by genome sequencing in a patient with an atypical presentation of Angelman syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2145, doi. 10.1002/ajmg.a.61740
By:
- Curtis, Meredith;
- Baribeau, Danielle;
- Walker, Susan;
- Carter, Melissa;
- Costain, Gregory;
- Lamoureux, Sylvia;
- Liston, Eriskay;
- Marshall, Christian R.;
- Reuter, Miriam S.;
- Snell, Meaghan;
- Summers, Jane;
- Vorstman, Jacob;
- Jobling, Rebekah K.
Publication type:
Article
HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 3070, doi. 10.1002/ajmg.a.38354
By:
- Farrell, Sandra A.;
- Sodhi, Sandi;
- Marshall, Christian R.;
- Guerin, Andrea;
- Slavotinek, Anne;
- Paton, Tara;
- Chong, Karen;
- Sirkin, Wilma L.;
- Scherer, Stephen W.;
- Bérubé‐Simard, Félix‐Antoine;
- Pilon, Nicolas
Publication type:
Article
De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2725, doi. 10.1002/ajmg.a.38352
By:
- Ejaz, Resham;
- Lionel, Anath C.;
- Blaser, Susan;
- Walker, Susan;
- Scherer, Stephen W.;
- Babul‐Hirji, Riyana;
- Marshall, Christian R.;
- Stavropoulos, Dimitri J.;
- Chitayat, David
Publication type:
Article
Cover Image, Volume 173A, Number 2, February 2017.
Published in:
2017
By:
- Maussion, Gilles;
- Cruceanu, Cristiana;
- Rosenfeld, Jill A.;
- Bell, Scott C.;
- Jollant, Fabrice;
- Szatkiewicz, Jin;
- Collins, Ryan L.;
- Hanscom, Carrie;
- Kolobova, Ilaria;
- de Champfleur, Nicolas Menjot;
- Blumenthal, Ian;
- Chiang, Colby;
- Ota, Vanessa;
- Hultman, Christina;
- O'Dushlaine, Colm;
- McCarroll, Steve;
- Alda, Martin;
- Jacquemont, Sebastien;
- Ordulu, Zehra;
- Marshall, Christian R.
Publication type:
Other
Implication of LRRC4C and DPP6 in neurodevelopmental disorders.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 395, doi. 10.1002/ajmg.a.38021
By:
- Maussion, Gilles;
- Cruceanu, Cristiana;
- Rosenfeld, Jill A.;
- Bell, Scott C.;
- Jollant, Fabrice;
- Szatkiewicz, Jin;
- Collins, Ryan L.;
- Hanscom, Carrie;
- Kolobova, Ilaria;
- de Champfleur, Nicolas Menjot;
- Blumenthal, Ian;
- Chiang, Colby;
- Ota, Vanessa;
- Hultman, Christina;
- O'Dushlaine, Colm;
- McCarroll, Steve;
- Alda, Martin;
- Jacquemont, Sebastien;
- Ordulu, Zehra;
- Marshall, Christian R.
Publication type:
Article
Microcephaly-capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 3018, doi. 10.1002/ajmg.a.37845
By:
- Naseer, Muhammad Imran;
- Sogaty, Sameera;
- Rasool, Mahmood;
- Chaudhary, Adeel G.;
- Abutalib, Yousif Ahmed;
- Walker, Susan;
- Marshall, Christian R.;
- Merico, Daniele;
- Carter, Melissa T.;
- Scherer, Stephen W.;
- Al‐Qahtani, Mohammad H.;
- Zarrei, Mehdi
Publication type:
Article
MED23-associated refractory epilepsy successfully treated with the ketogenic diet.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2421, doi. 10.1002/ajmg.a.37802
By:
- Lionel, Anath C.;
- Monfared, Nasim;
- Scherer, Stephen W.;
- Marshall, Christian R.;
- Mercimek‐Mahmutoglu, Saadet
Publication type:
Article
A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 392, doi. 10.1002/ajmg.a.37452
By:
- Fauth, Christine;
- Steindl, Katharina;
- Toutain, Annick;
- Farrell, Sandra;
- Witsch‐Baumgartner, Martina;
- Karall, Daniela;
- Joset, Pascal;
- Böhm, Sebastian;
- Baumer, Alessandra;
- Maier, Oliver;
- Zschocke, Johannes;
- Weksberg, Rosanna;
- Marshall, Christian R.;
- Rauch, Anita
Publication type:
Article
Clinical characteristics in patients with interstitial deletions of chromosome region 12q21-q22 and identification of a critical region associated with keratosis pilaris.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 796, doi. 10.1002/ajmg.a.36356
By:
- Al‐Maawali, Almundher;
- Marshall, Christian R.;
- Scherer, Stephen W.;
- Dupuis, Lucie;
- Mendoza‐Londono, Roberto;
- Stavropoulos, Dimitri J.
Publication type:
Article
Whole-genome sequencing of quartet families with autism spectrum disorder.
Published in:
Nature Medicine, 2015, v. 21, n. 2, p. 185, doi. 10.1038/nm.3792
By:
- Yuen, Ryan K C;
- Thiruvahindrapuram, Bhooma;
- Merico, Daniele;
- Walker, Susan;
- Tammimies, Kristiina;
- Hoang, Ny;
- Chrysler, Christina;
- Nalpathamkalam, Thomas;
- Pellecchia, Giovanna;
- Liu, Yi;
- Gazzellone, Matthew J;
- D'Abate, Lia;
- Deneault, Eric;
- Howe, Jennifer L;
- Liu, Richard S C;
- Thompson, Ann;
- Zarrei, Mehdi;
- Uddin, Mohammed;
- Marshall, Christian R;
- Ring, Robert H
Publication type:
Article
Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder.
Published in:
Nature Genetics, 2014, v. 46, n. 7, p. 742, doi. 10.1038/ng.2980
By:
- Uddin, Mohammed;
- Tammimies, Kristiina;
- Pellecchia, Giovanna;
- Alipanahi, Babak;
- Hu, Pingzhao;
- Wang, Zhuozhi;
- Pinto, Dalila;
- Lau, Lynette;
- Nalpathamkalam, Thomas;
- Marshall, Christian R;
- Blencowe, Benjamin J;
- Frey, Brendan J;
- Merico, Daniele;
- Yuen, Ryan K C;
- Scherer, Stephen W
Publication type:
Article
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.
Published in:
Nature Genetics, 2010, v. 42, n. 6, p. 489, doi. 10.1038/ng.589
By:
- Berkel, Simone;
- Marshall, Christian R.;
- Weiss, Birgit;
- Howe, Jennifer;
- Roeth, Ralph;
- Moog, Ute;
- Endris, Volker;
- Roberts, Wendy;
- Szatmari, Peter;
- Pinto, Dalila;
- Bonin, Michael;
- Riess, Angelika;
- Engels, Hartmut;
- Sprengel, Rolf;
- Scherer, Stephen W.;
- Rappold, Gudrun A.
Publication type:
Article
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Published in:
Nature Genetics, 2007, v. 39, n. 3, p. 319, doi. 10.1038/ng1985
By:
- Szatmari, Peter;
- Paterson, Andrew D.;
- Zwaigenbaum, Lonnie;
- Roberts, Wendy;
- Brian, Jessica;
- Xiao-Qing Liu;
- Vincent, John B.;
- Skaug, Jennifer L.;
- Thompson, Ann P.;
- Senman, Lili;
- Feuk, Lars;
- Cheng Qian;
- Bryson, Susan E.;
- Jones, Marshall B.;
- Marshall, Christian R.;
- Scherer, Stephen W.;
- Vieland, Veronica J.;
- Bartlett, Christopher;
- Mangin, La Vonne;
- Goedken, Rhinda
Publication type:
Article
Genome sequencing as a diagnostic test.
Published in:
2021
By:
- Costain, Gregory;
- Cohn, Ronald D.;
- Scherer, Stephen W.;
- Marshall, Christian R.
Publication type:
journal article
Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene.
Published in:
Molecular Genetics & Genomics, 2015, v. 290, n. 6, p. 2163, doi. 10.1007/s00438-015-1067-x
By:
- Desroches, Caro-Lyne;
- Patel, Jaina;
- Wang, Peixiang;
- Minassian, Berge;
- Marshall, Christian;
- Salomons, Gajja;
- Mercimek-Mahmutoglu, Saadet
Publication type:
Article
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy.
Published in:
Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0224-0
By:
- Ruggieri, Alessandra;
- Brancati, Francesco;
- Zanotti, Simona;
- Maggi, Lorenzo;
- Pasanisi, Maria Barbara;
- Saredi, Simona;
- Terracciano, Chiara;
- Antozzi, Carlo;
- D'Apice, Maria Rosaria;
- Sangiuolo, Federica;
- Novelli, Giuseppe;
- Marshall, Christian R.;
- Scherer, Stephen W.;
- Morandi, Lucia;
- Federici, Luca;
- Massa, Roberto;
- Mora, Marina;
- Minassian, Berge A.
Publication type:
Article
Erratum: A genotype resource for postmortem brain samples from the Autism Tissue Program.
Published in:
Autism Research: Official Journal of the International Society for Autism Research, 2011, v. 4, n. 4, p. 314, doi. 10.1002/aur.211
By:
- Wintle, Richard F.;
- Lionel, Anath C.;
- Hu, Pingzhao;
- Ginsberg, Stephen D.;
- Pinto, Dalila;
- Thiruvahindrapduram, Bhooma;
- Wei, John;
- Marshall, Christian R.;
- Pickett, Jane;
- Cook, Edwin H.;
- Scherer, Stephen W.
Publication type:
Article
A genotype resource for postmortem brain samples from the Autism Tissue Program.
Published in:
Autism Research: Official Journal of the International Society for Autism Research, 2011, v. 4, n. 2, p. 89, doi. 10.1002/aur.173
By:
- Wintle, Richard F.;
- Lionel, Anath C.;
- Hu, Pingzhao;
- Ginsberg, Stephen D.;
- Pinto, Dalila;
- Thiruvahindrapduram, Bhooma;
- Wei, John;
- Marshall, Christian R.;
- Pickett, Jane;
- Cook, Edwin H.;
- Scherer, Stephen W.
Publication type:
Article
Novel Population Specific Autosomal Copy Number Variation and Its Functional Analysis amongst Negritos from Peninsular Malaysia.
Published in:
PLoS ONE, 2014, v. 9, n. 6, p. 1, doi. 10.1371/journal.pone.0100371
By:
- Mokhtar, Siti Shuhada;
- Marshall, Christian R.;
- Phipps, Maude E.;
- Thiruvahindrapuram, Bhooma;
- Lionel, Anath C.;
- Scherer, Stephen W.;
- Peng, Hoh Boon
Publication type:
Article
Association and Mutation Analyses of 16p11.2 Autism Candidate Genes.
Published in:
PLoS ONE, 2009, v. 4, n. 2, p. 1, doi. 10.1371/journal.pone.0004582
By:
- Kumar, Ravinesh A.;
- Marshall, Christian R.;
- Badner, Judith A.;
- Babatz, Timothy D.;
- Mukamel, Zohar;
- Aldinger, Kimberly A.;
- Sudi, Jyotsna;
- Brune, Camille W.;
- Goh, Gerald;
- KaraMohamed, Samer;
- Sutcliffe, James S.;
- Cook, Edwin H.;
- Geschwind, Daniel H.;
- Dobyns, William B.;
- Scherer, Stephen W.;
- Christian, Susan L.
Publication type:
Article
Thiemann disease and familial digital arthropathy - brachydactyly: two sides of the same coin?
Published in:
2019
By:
- Damseh, Nadirah;
- Stimec, Jennifer;
- O'Brien, Alan;
- Marshall, Christian;
- Savarirayan, Ravi;
- Jawad, Ali;
- Laxer, Ronald;
- Kannu, Peter
Publication type:
journal article
Hereditary Mucin Deficiency Caused by Biallelic Loss of Function of .
Published in:
2022
By:
- Costain, Gregory;
- Zhen Liu;
- Mennella, Vito;
- Radicioni, Giorgia;
- Goczi, Adrienn N.;
- Albulescu, Alexandra;
- Walker, Susan;
- Ngan, Bo;
- Manson, David;
- Vali, Reza;
- Khan, Meraj;
- Palaniyar, Nades;
- Hill, David B.;
- Hall, David A.;
- Marshall, Christian R.;
- Knowles, Michael;
- Zariwala, Maimoona A.;
- Kesimer, Mehmet;
- Dell, Sharon D.;
- Liu, Zhen
Publication type:
journal article
Temperature Dependence of Cardiac Na<sup>+</sup>/Ca<sup>2+</sup> Exchanger.
Published in:
Annals of the New York Academy of Sciences, 2002, v. 976, n. 1, p. 109, doi. 10.1111/j.1749-6632.2002.tb04727.x
By:
- MARSHALL, CHRISTIAN;
- ELIAS, CHADWICK;
- XUE, XIAO-HUA;
- LE, HOA DINH;
- OMELCHENKO, ALEXANDER;
- HRYSHKO, LARRY V.;
- TIBBITS, GLEN F.
Publication type:
Article
Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.
Published in:
Human Genetics, 2015, v. 134, n. 2, p. 191, doi. 10.1007/s00439-014-1513-6
By:
- Woodbury-Smith, Marc;
- Paterson, Andrew;
- Thiruvahindrapduram, Bhooma;
- Lionel, Anath;
- Marshall, Christian;
- Merico, Daniele;
- Kellam, Barbara;
- Tammimies, Kristiina;
- Walker, Susan;
- Yuen, Ryan;
- Uddin, Mohammed;
- Howe, Jennifer;
- Scherer, Stephen;
- Fernandez, Bridget;
- Whitten, Kathy;
- Duku, Eric;
- O'Conner, Irene;
- Chrysler, Christina;
- Thompson, Ann;
- Sutcliffe, James
Publication type:
Article
The population genomic landscape of human genetic structure, admixture history and local adaptation in Peninsular Malaysia.
Published in:
Human Genetics, 2014, v. 133, n. 9, p. 1169, doi. 10.1007/s00439-014-1459-8
By:
- Deng, Lian;
- Hoh, Boon;
- Lu, Dongsheng;
- Fu, Ruiqing;
- Phipps, Maude;
- Li, Shilin;
- Nur-Shafawati, Ab;
- Hatin, Wan;
- Ismail, Endom;
- Mokhtar, Siti;
- Jin, Li;
- Zilfalil, Bin;
- Marshall, Christian;
- Scherer, Stephen;
- Al-Mulla, Fahd;
- Xu, Shuhua
Publication type:
Article
Identification of germline genomic copy number variation in familial pancreatic cancer.
Published in:
Human Genetics, 2012, v. 131, n. 9, p. 1481, doi. 10.1007/s00439-012-1183-1
By:
- Al-Sukhni, Wigdan;
- Joe, Sarah;
- Lionel, Anath;
- Zwingerman, Nora;
- Zogopoulos, George;
- Marshall, Christian;
- Borgida, Ayelet;
- Holter, Spring;
- Gropper, Aaron;
- Moore, Sara;
- Bondy, Melissa;
- Klein, Alison;
- Petersen, Gloria;
- Rabe, Kari;
- Schwartz, Ann;
- Syngal, Sapna;
- Scherer, Stephen;
- Gallinger, Steven
Publication type:
Article
A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00254-0
By:
- Loureiro, Livia O.;
- Howe, Jennifer L.;
- Reuter, Miriam S.;
- Iaboni, Alana;
- Calli, Kristina;
- Roshandel, Delnaz;
- Pritišanac, Iva;
- Moses, Alan;
- Forman-Kay, Julie D.;
- Trost, Brett;
- Zarrei, Mehdi;
- Rennie, Olivia;
- Lau, Lynette Y. S.;
- Marshall, Christian R.;
- Srivastava, Siddharth;
- Godlewski, Brianna;
- Buttermore, Elizabeth D.;
- Sahin, Mustafa;
- Hartley, Dean;
- Frazier, Thomas
Publication type:
Article
Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease.
Published in:
NPJ Genomic Medicine, 2020, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41525-020-00154-9
By:
- Marshall, Christian R.;
- Chowdhury, Shimul;
- Taft, Ryan J.;
- Lebo, Mathew S.;
- Buchan, Jillian G.;
- Harrison, Steven M.;
- Rowsey, Ross;
- Klee, Eric W.;
- Liu, Pengfei;
- Worthey, Elizabeth A.;
- Jobanputra, Vaidehi;
- Dimmock, David;
- Kearney, Hutton M.;
- Bick, David;
- Kulkarni, Shashikant;
- Taylor, Stacie L.;
- Belmont, John W.;
- Stavropoulos, Dimitri J.;
- Lennon, Niall J.
Publication type:
Article
Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study.
Published in:
NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0021-8
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 type:
Article
Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders.
Published in:
Journal of Neurodevelopmental Disorders, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s11689-019-9263-3
By:
- Costain, Gregory;
- Walker, Susan;
- Argiropoulos, Bob;
- Baribeau, Danielle A.;
- Bassett, Anne S.;
- Boot, Erik;
- Devriendt, Koen;
- Kellam, Barbara;
- Marshall, Christian R.;
- Prasad, Aparna;
- Serrano, Moises A.;
- Stavropoulos, D. James;
- Twede, Hope;
- Vermeesch, Joris R.;
- Vorstman, Jacob A. S.;
- Scherer, Stephen W.
Publication type:
Article
CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems.
Published in:
Journal of Neurodevelopmental Disorders, 2014, v. 6, n. 1, p. 1, doi. 10.1186/1866-1955-6-9
By:
- Chénier, Sébastien;
- Yoon, Grace;
- Argiropoulos, Bob;
- Lauzon, Julie;
- Laframboise, Rachel;
- Joo Wook Ahn;
- Ogilvie, Caroline Mackie;
- Lionel, Anath C.;
- Marshall, Christian R.;
- Vaags, Andrea K.;
- Hashemi, Bita;
- Boisvert, Karine;
- Mathonnet, Géraldine;
- Tihy, Frédérique;
- So, Joyce;
- Scherer, Stephen W.;
- Lemyre, Emmanuelle;
- Stavropoulos, Dimitri J.
Publication type:
Article
Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 3, p. 310, doi. 10.1038/ejhg.2014.112
By:
- Al-Maawali, Almundher;
- Dupuis, Lucie;
- Blaser, Susan;
- Heon, Elise;
- Tarnopolsky, Mark;
- Al-Murshedi, Fathiya;
- Marshall, Christian R;
- Paton, Tara;
- Scherer, Stephen W;
- Roelofsen, Jeroen;
- van Kuilenburg, André BP;
- Mendoza-Londono, Roberto
Publication type:
Article
Severe intellectual disability and autistic features associated with microduplication 2q23.1.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 4, p. 398, doi. 10.1038/ejhg.2011.199
By:
- Chung, Brian HY;
- Mullegama, Sureni;
- Marshall, Christian R;
- Lionel, Anath C;
- Weksberg, Rosanna;
- Dupuis, Lucie;
- Brick, Lauren;
- Li, Chumei;
- Scherer, Stephen W;
- Aradhya, Swaroop;
- Stavropoulos, D James;
- Elsea, Sarah H;
- Mendoza-Londono, Roberto
Publication type:
Article
Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 4, p. 429, doi. 10.1038/ejhg.2009.192
By:
- Willemsen, Marjolein H.;
- Fernandez, Bridget A.;
- Bacino, Carlos A.;
- Gerkes, Erica;
- de Brouwer, Arjan P. M.;
- Pfundt, Rolph;
- Sikkema-Raddatz, Birgit;
- Scherer, Stephen W.;
- Marshall, Christian R.;
- Potocki, Lorraine;
- van Bokhoven, Hans;
- Kleefstra, Tjitske
Publication type:
Article
Global variation in copy number in the human genome.
Published in:
Nature, 2006, v. 444, n. 7118, p. 444, doi. 10.1038/nature05329
By:
- Redon, Richard;
- Ishikawa, Shumpei;
- Fitch, Karen R.;
- Feuk, Lars;
- Perry, George H.;
- Andrews, T. Daniel;
- Fiegler, Heike;
- Shapero, Michael H.;
- Carson, Andrew R.;
- Wenwei Chen;
- Eun Kyung Cho;
- Dallaire, Stephanie;
- Freeman, Jennifer L.;
- González, Juan R.;
- Gratacòs, Mònica;
- Jing Huang;
- Kalaitzopoulos, Dimitrios;
- Komura, Daisuke;
- MacDonald, Jeffrey R.;
- Marshall, Christian R.
Publication type:
Article
Prevalence of Low-Frequency, Antiviral Resistance Variants in SARS-CoV-2 Isolates in Ontario, Canada, 2020-2023.
Published in:
JAMA Network Open, 2023, v. 6, n. 7, p. e2324963, doi. 10.1001/jamanetworkopen.2023.24963
By:
- Sjaarda, Calvin P.;
- Lau, Lynette;
- Simpson, Jared T.;
- Fattouh, Ramzi;
- Biondi, Mia J.;
- Maguire, Finlay;
- Campigotto, Aaron;
- Feng, Yujia;
- Tozer, Kyla;
- Wong, Henry;
- Sung, Wilson W. L.;
- Kim, Sean;
- Marshall, Christian R.;
- Sheth, Prameet M.;
- Kozak, Robert
Publication type:
Article
Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome.
Published in:
G3: Genes | Genomes | Genetics, 2015, v. 5, n. 11, p. 2453, doi. 10.1534/g3.115.021345
By:
- Merico, Daniele;
- Zarrei, Mehdi;
- Costain, Gregory;
- Ogura, Lucas;
- Alipanahi, Babak;
- Gazzellone, Matthew J.;
- Butcher, Nancy J.;
- Thiruvahindrapuram, Bhooma;
- Nalpathamkalam, Thomas;
- Chow, Eva W. C.;
- Andrade, Danielle M.;
- Frey, Brendan J.;
- Marshall, Christian R.;
- Scherer, Stephen W.;
- Bassett, Anne S.
Publication type:
Article
Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.
Published in:
G3: Genes | Genomes | Genetics, 2015, v. 5, n. 8, p. 1775, doi. 10.1534/g3.115.019851
By:
- Marshall, Christian R.;
- Scherer, Stephen W.;
- Zariwala, Maimoona A.;
- Lau, Lynette;
- Paton, Tara A.;
- Stockley, Tracy;
- Jobling, Rebekah K.;
- Ray, Peter N.;
- Knowles, Michael R.;
- Hall, David A.;
- Dell, Sharon D.;
- Kim, Raymond H.
Publication type:
Article
Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders.
Published in:
Molecular Autism, 2014, v. 5, n. 1, p. 1, doi. 10.1186/2040-2392-5-28
By:
- Correia, Catarina T.;
- Conceição, Inês C.;
- Oliveira, Bárbara;
- Coelho, Joana;
- Sousa, Inês;
- Sequeira, Ana F.;
- Almeida, Joana;
- Café, Cátia;
- Duque, Frederico;
- Mouga, Susana;
- Roberts, Wendy;
- Kun Gao;
- Lowe, Jennifer K.;
- Thiruvahindrapuram, Bhooma;
- Walker, Susan;
- Marshall, Christian R.;
- Pinto, Dalila;
- Nurnberger, John I.;
- Scherer, Stephen W.;
- Geschwind, Daniel H.
Publication type:
Article
Review of Slow It Down to Speed It Up: Breaking Through the Window of Autism.
Published in:
Canadian Young Scientist Journal, 2011, v. 2011, n. 1, p. 29
By:
- Marshall, Christian R.
Publication type:
Article
Genome-wide Sequencing Identified Rare Genetic Variants for Childhood-onset Monogenic Lupus.
Published in:
Journal of Rheumatology, 2023, v. 50, n. 5, p. 671, doi. 10.3899/jrheum.220513
By:
- Misztal, Melissa C.;
- Fangming Liao;
- Couse, Madeline;
- Jingjing Cao;
- Dominguez, Daniela;
- Lau, Lynette;
- Marshall, Christian R.;
- Naumenko, Sergey;
- Knight, Andrea M.;
- Levy, Deborah M.;
- Hiraki, Linda T.;
- Misztal, Melissa;
- Liao, Fangming;
- Cao, Jingjing
Publication type:
Article

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