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1.

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.

Saffari, Afshin; Lau, Tracy; Tajsharghi, Homa; Karimiani, Ehsan Ghayoor; Kariminejad, Ariana; Efthymiou, Stephanie; Zifarelli, Giovanni; Sultan, Tipu; Toosi, Mehran Beiraghi; Sedighzadeh, Sahar; Siu, Victoria Mok; Ortigoza-Escobar, Juan Darío; AlShamsi, Aisha M; Ibrahim, Shahnaz; Al-Sannaa, Nouriya Abbas; Al-Hertani, Walla; Sandra, Whalen; Tarnopolsky, Mark; Alavi, Shahryar; Li, Chumei; Day-Salvatore, Debra-Lynn; Martínez-González, Maria Jesús; Levandoski, Kristin M; Bedoukian, Emma; Madan-Khetarpal, Suneeta; Idleburg, Michaela J; Menezes, Minal Juliet; Siddharth, Aishwarya; Platzer, Konrad; Oppermann, Henry; Smitka, Martin; Collins, Felicity; Lek, Monkol; Shahrooei, Mohmmad; Ghavideldarestani, Maryam; Herman, Isabella; Rendu, John; Faure, Julien; Baker, Janice; Bhambhani, Vikas; Calderwood, Laurel; Akhondian, Javad; Imannezhad, Shima; Mirzadeh, Hanieh Sadat; Hashemi, Narges; Doosti, Mohammad; Safi, Mojtaba; Ahangari, Najmeh; Torbati, Paria Najarzadeh; Abedini, Soheila.

Brain ; 146(8): 3273-3288, 2023 08 01.

Article in English | MEDLINE | ID: mdl-36757831

2.

Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.

Hartley, Taila; Soubry, Élisabeth; Acker, Meryl; Osmond, Matthew; Couse, Madeline; Gillespie, Meredith K; Ito, Yoko; Marshall, Aren E; Lemire, Gabrielle; Huang, Lijia; Chisholm, Caitlin; Eaton, Alison J; Price, E Magda; Dowling, James J; Ramani, Arun K; Mendoza-Londono, Roberto; Costain, Gregory; Axford, Michelle M; Szuto, Anna; McNiven, Vanda; Damseh, Nadirah; Jobling, Rebekah; de Kock, Leanne; Mojarad, Bahareh A; Young, Ted; Shao, Zhuo; Hayeems, Robin Z; Graham, Ian D; Tarnopolsky, Mark; Brady, Lauren; Armour, Christine M; Geraghty, Michael; Richer, Julie; Sawyer, Sarah; Lines, Matthew; Mercimek-Andrews, Saadet; Carter, Melissa T; Graham, Gail; Kannu, Peter; Lazier, Joanna; Li, Chumei; Aul, Ritu B; Balci, Tugce B; Dlamini, Nomazulu; Badalato, Lauren; Guerin, Andrea; Walia, Jagdeep; Chitayat, David; Cohn, Ronald; Faghfoury, Hanna.

Clin Genet ; 103(3): 288-300, 2023 03.

Article in English | MEDLINE | ID: mdl-36353900

3.

Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions.

Aref-Eshghi, Erfan; Bend, Eric G; Colaiacovo, Samantha; Caudle, Michelle; Chakrabarti, Rana; Napier, Melanie; Brick, Lauren; Brady, Lauren; Carere, Deanna Alexis; Levy, Michael A; Kerkhof, Jennifer; Stuart, Alan; Saleh, Maha; Beaudet, Arthur L; Li, Chumei; Kozenko, Maryia; Karp, Natalya; Prasad, Chitra; Siu, Victoria Mok; Tarnopolsky, Mark A; Ainsworth, Peter J; Lin, Hanxin; Rodenhiser, David I; Krantz, Ian D; Deardorff, Matthew A; Schwartz, Charles E; Sadikovic, Bekim.

Am J Hum Genet ; 104(4): 685-700, 2019 04 04.

Article in English | MEDLINE | ID: mdl-30929737

4.

TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.

Bowles, Bradley; Ferrer, Alejandro; Nishimura, Carla J; Pinto E Vairo, Filippo; Rey, Tristan; Leheup, Bruno; Sullivan, Jennifer; Schoch, Kelly; Stong, Nicholas; Agolini, Emanuele; Cocciadiferro, Dario; Williams, Abigail; Cummings, Alex; Loddo, Sara; Genovese, Silvia; Roadhouse, Chelsea; McWalter, Kirsty; Wentzensen, Ingrid M; Li, Chumei; Babovic-Vuksanovic, Dusica; Lanpher, Brendan C; Dentici, Maria Lisa; Ankala, Arun; Hamm, J Austin; Dallapiccola, Bruno; Radio, Francesca Clementina; Shashi, Vandana; Gérard, Benedicte; Bloch-Zupan, Agnes; Smith, Richard J; Klee, Eric W.

Am J Med Genet A ; 185(8): 2417-2433, 2021 08.

Article in English | MEDLINE | ID: mdl-34042254

5.

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Mak, Christopher C Y; Doherty, Dan; Lin, Angela E; Vegas, Nancy; Cho, Megan T; Viot, Géraldine; Dimartino, Clémantine; Weisfeld-Adams, James D; Lessel, Davor; Joss, Shelagh; Li, Chumei; Gonzaga-Jauregui, Claudia; Zarate, Yuri A; Ehmke, Nadja; Horn, Denise; Troyer, Caitlin; Kant, Sarina G; Lee, Youngha; Ishak, Gisele E; Leung, Gordon; Barone Pritchard, Amanda; Yang, Sandra; Bend, Eric G; Filippini, Francesca; Roadhouse, Chelsea; Lebrun, Nicolas; Mehaffey, Michele G; Martin, Pierre-Marie; Apple, Benjamin; Millan, Francisca; Puk, Oliver; Hoffer, Mariette J V; Henderson, Lindsay B; McGowan, Ruth; Wentzensen, Ingrid M; Pei, Steven; Zahir, Farah R; Yu, Mullin; Gibson, William T; Seman, Ann; Steeves, Marcie; Murrell, Jill R; Luettgen, Sabine; Francisco, Elizabeth; Strom, Tim M; Amlie-Wolf, Louise; Kaindl, Angela M; Wilson, William G; Halbach, Sara; Basel-Salmon, Lina.

Brain ; 143(1): 55-68, 2020 01 01.

Article in English | MEDLINE | ID: mdl-31834374

6.

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.

Fountain, Michael D; Oleson, David S; Rech, Megan E; Segebrecht, Lara; Hunter, Jill V; McCarthy, John M; Lupo, Philip J; Holtgrewe, Manuel; Moran, Rocio; Rosenfeld, Jill A; Isidor, Bertrand; Le Caignec, Cédric; Saenz, Margarita S; Pedersen, Robert C; Morgan, Thomas M; Pfotenhauer, Jean P; Xia, Fan; Bi, Weimin; Kang, Sung-Hae L; Patel, Ankita; Krantz, Ian D; Raible, Sarah E; Smith, Wendy; Cristian, Ingrid; Torti, Erin; Juusola, Jane; Millan, Francisca; Wentzensen, Ingrid M; Person, Richard E; Küry, Sébastien; Bézieau, Stéphane; Uguen, Kévin; Férec, Claude; Munnich, Arnold; van Haelst, Mieke; Lichtenbelt, Klaske D; van Gassen, Koen; Hagelstrom, Tanner; Chawla, Aditi; Perry, Denise L; Taft, Ryan J; Jones, Marilyn; Masser-Frye, Diane; Dyment, David; Venkateswaran, Sunita; Li, Chumei; Escobar, Luis F; Horn, Denise; Spillmann, Rebecca C; Peña, Loren.

Genet Med ; 21(8): 1797-1807, 2019 08.

Article in English | MEDLINE | ID: mdl-30679821

7.

Correspondence: Perspectives on the future of dysmorphology.

Li, Chumei.

Am J Med Genet A ; 191(8): 2252-2253, 2023 Aug.

Article in English | MEDLINE | ID: mdl-37219025

8.

Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.

Zarate, Yuri A; Smith-Hicks, Constance L; Greene, Carol; Abbott, Mary-Alice; Siu, Victoria M; Calhoun, Amy R U L; Pandya, Arti; Li, Chumei; Sellars, Elizabeth A; Kaylor, Julie; Bosanko, Katherine; Kalsner, Louisa; Basinger, Alice; Slavotinek, Anne M; Perry, Hazel; Saenz, Margarita; Szybowska, Marta; Wilson, Louise C; Kumar, Ajith; Brain, Caroline; Balasubramanian, Meena; Dubbs, Holly; Ortiz-Gonzalez, Xilma R; Zackai, Elaine; Stein, Quinn; Powell, Cynthia M; Schrier Vergano, Samantha; Britt, Allison; Sun, Angela; Smith, Wendy; Bebin, E Martina; Picker, Jonathan; Kirby, Amelia; Pinz, Hailey; Bombei, Hannah; Mahida, Sonal; Cohen, Julie S; Fatemi, Ali; Vernon, Hilary J; McClellan, Rebecca; Fleming, Leah R; Knyszek, Brittney; Steinraths, Michelle; Velasco Gonzalez, Cruz; Beck, Anita E; Golden-Grant, Katie L; Egense, Alena; Parikh, Aditi; Raimondi, Chantalle; Angle, Brad.

Am J Med Genet A ; 176(4): 925-935, 2018 04.

Article in English | MEDLINE | ID: mdl-29436146

9.

CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.

Chen, Chun-An; Bosch, Daniëlle G M; Cho ScM, Megan T; Rosenfeld, Jill A; Shinawi, Marwan; Lewis, Richard Alan; Mann, John; Jayakar, Parul; Payne, Katelyn; Walsh, Laurence; Moss, Timothy; Schreiber, Allison; Schoonveld, Cheri; Monaghan, Kristin G; Elmslie, Frances; Douglas, Ganka; Boonstra, F Nienke; Millan, Francisca; Cremers, Frans P M; McKnight, Dianalee; Richard, Gabriele; Juusola, Jane; Kendall, Fran; Ramsey, Keri; Anyane-Yeboa, Kwame; Malkin, Elfrida; Chung, Wendy K; Niyazov, Dmitriy; Pascual, Juan M; Walkiewicz, Magdalena; Veluchamy, Vivekanand; Li, Chumei; Hisama, Fuki M; de Vries, Bert B A; Schaaf, Christian.

Genet Med ; 19(8): 962, 2017 08.

Article in English | MEDLINE | ID: mdl-28777376

10.

Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression.

Lowther, Chelsea; Speevak, Marsha; Armour, Christine M; Goh, Elaine S; Graham, Gail E; Li, Chumei; Zeesman, Susan; Nowaczyk, Malgorzata J M; Schultz, Lee-Anne; Morra, Antonella; Nicolson, Rob; Bikangaga, Peter; Samdup, Dawa; Zaazou, Mostafa; Boyd, Kerry; Jung, Jack H; Siu, Victoria; Rajguru, Manjulata; Goobie, Sharan; Tarnopolsky, Mark A; Prasad, Chitra; Dick, Paul T; Hussain, Asmaa S; Walinga, Margreet; Reijenga, Renske G; Gazzellone, Matthew; Lionel, Anath C; Marshall, Christian R; Scherer, Stephen W; Stavropoulos, Dimitri J; McCready, Elizabeth; Bassett, Anne S.

Genet Med ; 19(1): 53-61, 2017 01.

Article in English | MEDLINE | ID: mdl-27195815

11.

Normal IQ is possible in Smith-Lemli-Opitz syndrome.

Eroglu, Yasemen; Nguyen-Driver, Mina; Steiner, Robert D; Merkens, Louise; Merkens, Mark; Roullet, Jean-Baptiste; Elias, Ellen; Sarphare, Geeta; Porter, Forbes D; Li, Chumei; Tierney, Elaine; Nowaczyk, Malgorzata J; Freeman, Kurt A.

Am J Med Genet A ; 173(8): 2097-2100, 2017 Aug.

Article in English | MEDLINE | ID: mdl-28349652

12.

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.

Ng, Bobby G; Buckingham, Kati J; Raymond, Kimiyo; Kircher, Martin; Turner, Emily H; He, Miao; Smith, Joshua D; Eroshkin, Alexey; Szybowska, Marta; Losfeld, Marie E; Chong, Jessica X; Kozenko, Mariya; Li, Chumei; Patterson, Marc C; Gilbert, Rodney D; Nickerson, Deborah A; Shendure, Jay; Bamshad, Michael J; Freeze, Hudson H.

Am J Hum Genet ; 92(4): 632-6, 2013 Apr 04.

Article in English | MEDLINE | ID: mdl-23561849

13.

The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.

Chen, Chun-An; Bosch, Daniëlle G M; Cho, Megan T; Rosenfeld, Jill A; Shinawi, Marwan; Lewis, Richard Alan; Mann, John; Jayakar, Parul; Payne, Katelyn; Walsh, Laurence; Moss, Timothy; Schreiber, Allison; Schoonveld, Cheri; Monaghan, Kristin G; Elmslie, Frances; Douglas, Ganka; Boonstra, F Nienke; Millan, Francisca; Cremers, Frans P M; McKnight, Dianalee; Richard, Gabriele; Juusola, Jane; Kendall, Fran; Ramsey, Keri; Anyane-Yeboa, Kwame; Malkin, Elfrida; Chung, Wendy K; Niyazov, Dmitriy; Pascual, Juan M; Walkiewicz, Magdalena; Veluchamy, Vivekanand; Li, Chumei; Hisama, Fuki M; de Vries, Bert B A; Schaaf, Christian.

Genet Med ; 18(11): 1143-1150, 2016 11.

Article in English | MEDLINE | ID: mdl-26986877

14.

Trisomy 22 mosaicism and normal developmental outcome: report of two patients and review of the literature.

Abdelgadir, Dalal; Nowaczyk, Malgorzata J M; Li, Chumei.

Am J Med Genet A ; 161A(5): 1126-31, 2013 May.

Article in English | MEDLINE | ID: mdl-23529842

15.

The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.

Curry, Cynthia J; Rosenfeld, Jill A; Grant, Erica; Gripp, Karen W; Anderson, Carol; Aylsworth, Arthur S; Saad, Taha Ben; Chizhikov, Victor V; Dybose, Giedre; Fagerberg, Christina; Falco, Michelle; Fels, Christina; Fichera, Marco; Graakjaer, Jesper; Greco, Donatella; Hair, Jennifer; Hopkins, Elizabeth; Huggins, Marlene; Ladda, Roger; Li, Chumei; Moeschler, John; Nowaczyk, Malgorzata J M; Ozmore, Jillian R; Reitano, Santina; Romano, Corrado; Roos, Laura; Schnur, Rhonda E; Sell, Susan; Suwannarat, Pim; Svaneby, Dea; Szybowska, Marta; Tarnopolsky, Mark; Tervo, Raymond; Tsai, Anne Chun-Hui; Tucker, Megan; Vallee, Stephanie; Wheeler, Ferrin C; Zand, Dina J; Barkovich, A James; Aradhya, Swaroop; Shaffer, Lisa G; Dobyns, William B.

Am J Med Genet A ; 161A(8): 1833-52, 2013 Aug.

Article in English | MEDLINE | ID: mdl-23813913

16.

Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462.

Brady, Lauren; Ballantyne, Mark; Duck, John; Fisker, Thomas; Kleefman, Ryan; Li, Chumei; Nfonsam, Landry; Schultz, Lee-Anne; Tarnopolsky, Mark; McCready, Elizabeth.

Mol Genet Genomic Med ; 11(3): e2116, 2023 03.

Article in English | MEDLINE | ID: mdl-36461789

17.

Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish.

Patterson, Victoria; Ullah, Farid; Bryant, Laura; Griffin, John N; Sidhu, Alpa; Saliganan, Sheila; Blaile, Mackenzie; Saenz, Margarita S; Smith, Rosemarie; Ellingwood, Sara; Grange, Dorothy K; Hu, Xuyun; Mireguli, Maimaiti; Luo, Yanfei; Shen, Yiping; Mulhern, Maureen; Zackai, Elaine; Ritter, Alyssa; Izumi, Kosaki; Hoefele, Julia; Wagner, Matias; Riedhammer, Korbinian M; Seitz, Barbara; Robin, Nathaniel H; Goodloe, Dana; Mignot, Cyril; Keren, Boris; Cox, Helen; Jarvis, Joanna; Hempel, Maja; Gibson, Cynthia Forster; Tran Mau-Them, Frederic; Vitobello, Antonio; Bruel, Ange-Line; Sorlin, Arthur; Mehta, Sarju; Raymond, F Lucy; Gilmore, Kelly; Powell, Bradford C; Weck, Karen; Li, Chumei; Vulto-van Silfhout, Anneke T; Giacomini, Thea; Mancardi, Maria Margherita; Accogli, Andrea; Salpietro, Vincenzo; Zara, Federico; Vora, Neeta L; Davis, Erica E; Burdine, Rebecca.

Sci Adv ; 9(17): eade0631, 2023 04 28.

Article in English | MEDLINE | ID: mdl-37126546

18.

Novel features of Helsmoortel-Van der Aa/ADNP syndrome in a boy with a known pathogenic mutation in the ADNP gene detected by exome sequencing.

Li, Chumei; Wang, Yongdong; Szybowska, Marta.

Am J Med Genet A ; 173(7): 1994-1995, 2017 Jul.

Article in English | MEDLINE | ID: mdl-28475273

19.

Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy.

Saltzman, Adam J; Mancini-DiNardo, Debora; Li, Chumei; Chung, Wendy K; Ho, Carolyn Y; Hurst, Stephanie; Wynn, Julia; Care, Melanie; Hamilton, Robert M; Seidman, Gregor W; Gorham, Joshua; McDonough, Barbara; Sparks, Elizabeth; Seidman, J G; Seidman, Christine E; Rehm, Heidi L.

Circ Res ; 106(9): 1549-52, 2010 May 14.

Article in English | MEDLINE | ID: mdl-20378854

20.

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.

Slavotinek, Anne M; Baranzini, Sergio E; Schanze, Denny; Labelle-Dumais, Cassandre; Short, Kieran M; Chao, Ryan; Yahyavi, Mani; Bijlsma, Emilia K; Chu, Catherine; Musone, Stacey; Wheatley, Ashleigh; Kwok, Pui-Yan; Marles, Sandra; Fryns, Jean-Pierre; Maga, A Murat; Hassan, Mohamed G; Gould, Douglas B; Madireddy, Lohith; Li, Chumei; Cox, Timothy C; Smyth, Ian; Chudley, Albert E; Zenker, Martin.

J Med Genet ; 48(6): 375-82, 2011 Jun.

Article in English | MEDLINE | ID: mdl-21507892

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