Parkinsonism in Patients with Neuronopathic (Type 3) Gaucher Disease: A Case Series

द्वारा Ryan, Emory, Amato, Dominick, MacKenzie, Jennifer J., Sidransky, Ellen, Lopez, Grisel
में प्रकाशित Mov Disord Clin Pract (2020)

Melanocortin-4 Receptor Deficiency Phenotype with an Interstitial 18q Deletion: A Case Report of Severe Childhood Obesity and Tall Stature

द्वारा Abdullah, Sarah, Reginold, William, Kiss, Courtney, Harrison, Karen J., MacKenzie, Jennifer J.
में प्रकाशित Case Rep Pediatr (2016)

X-linked Deafness-2 (DFNX2) Phenotype Associated with a Paracentric Inversion Upstream of POU3F4

द्वारा Anger, Gregory J., Crocker, Susan, McKenzie, Kyle, Brown, Kerry K., Morton, Cynthia C., Harrison, Karen, MacKenzie, Jennifer J.
में प्रकाशित Am J Audiol (2014)

Student Reflections on the Queen’s Accelerated Route to Medical School Programme

द्वारा MacKenzie, Jennifer J, Stockley, Denise, Hastings-Truelove, Amber, Nowlan Suart, Theresa, Katsoulas, Eleni, Kawaja, Michael, Reznick, Richard, Sanfilippo, Anthony
में प्रकाशित J Med Educ Curric Dev (2019)

Primary care providers’ lived experiences of genetics in practice

द्वारा Harding, Brittany, Webber, Colleen, Ruhland, Lucia, Dalgarno, Nancy, Armour, Christine M., Birtwhistle, Richard, Brown, Glenn, Carroll, June C., Flavin, Michael, Phillips, Susan, MacKenzie, Jennifer J.
में प्रकाशित J Community Genet (2018)

Bridging the gap in genetics: a progressive model for primary to specialist care

द्वारा Harding, Brittany, Webber, Colleen, Rühland, Lucia, Dalgarno, Nancy, Armour, Christine, Birtwhistle, Richard, Brown, Glenn, Carroll, June C., Flavin, Michael, Phillips, Susan P., MacKenzie, Jennifer J.
में प्रकाशित BMC Med Educ (2019)

Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements

द्वारा Zepeda-Mendoza, Cinthya J., Ibn-Salem, Jonas, Kammin, Tammy, Harris, David J., Rita, Debra, Gripp, Karen W., MacKenzie, Jennifer J., Gropman, Andrea, Graham, Brett, Shaheen, Ranad, Alkuraya, Fowzan S., Brasington, Campbell K., Spence, Edward J., Masser-Frye, Diane, Bird, Lynne M., Spiegel, Erica, Sparkes, Rebecca L., Ordulu, Zehra, Talkowski, Michael E., Andrade-Navarro, Miguel A., Robinson, Peter N., Morton, Cynthia C.
में प्रकाशित Am J Hum Genet (2017)

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation

द्वारा Yan, Kezhi, Rousseau, Justine, Littlejohn, Rebecca Okashah, Kiss, Courtney, Lehman, Anna, Rosenfeld, Jill A., Stumpel, Constance T.R., Stegmann, Alexander P.A., Robak, Laurie, Scaglia, Fernando, Nguyen, Thi Tuyet Mai, Fu, He, Ajeawung, Norbert F., Camurri, Maria Vittoria, Li, Lin, Gardham, Alice, Panis, Bianca, Almannai, Mohammed, Sacoto, Maria J. Guillen, Baskin, Berivan, Ruivenkamp, Claudia, Xia, Fan, Bi, Weimin, Cho, Megan T., Potjer, Thomas P., Santen, Gijs W.E., Parker, Michael J., Canham, Natalie, McKinnon, Margaret, Potocki, Lorraine, MacKenzie, Jennifer J., Roeder, Elizabeth R., Campeau, Philippe M., Yang, Xiang-Jiao
में प्रकाशित Am J Hum Genet (2017)

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

द्वारा Cousin, Margot A., Creighton, Blake A., Breau, Keith A., Spillmann, Rebecca C., Torti, Erin, Dontu, Sruthi, Tripathi, Swarnendu, Ajit, Deepa, Edwards, Reginald J., Afriyie, Simone, Bay, Julia C., Harper, Kathryn M., Beltran, Alvaro A., Munoz, Lorena J., Rodriguez, Liset Falcon, Stankewich, Michael C., Person, Richard E., Si, Yue, Normand, Elizabeth A., Blevins, Amy, May, Alison S., Bier, Louise, Aggarwal, Vimla, Mancini, Grazia M. S., van Slegtenhorst, Marjon A., Cremer, Kirsten, Becker, Jessica, Engels, Hartmut, Aretz, Stefan, MacKenzie, Jennifer J., Brilstra, Eva, van Gassen, Koen L. I., van Jaarsveld, Richard H., Oegema, Renske, Parsons, Gretchen M., Mark, Paul, Helbig, Ingo, McKeown, Sarah E., Stratton, Robert, Cogne, Benjamin, Isidor, Bertrand, Cacheiro, Pilar, Smedley, Damian, Firth, Helen V., Bierhals, Tatjana, Kloth, Katja, Weiss, Deike, Fairley, Cecilia, Shieh, Joseph T., Kritzer, Amy, Jayakar, Parul, Kurtz-Nelson, Evangeline, Bernier, Raphael A., Wang, Tianyun, Eichler, Evan E., van de Laar, Ingrid M. B. H., McConkie-Rosell, Allyn, McDonald, Marie T., Kemppainen, Jennifer, Lanpher, Brendan C., Schultz-Rogers, Laura E., Gunderson, Lauren B., Pichurin, Pavel N., Yoon, Grace, Zech, Michael, Jech, Robert, Winkelmann, Juliane, Beltran, Adriana S., Zimmermann, Michael T., Temple, Brenda, Moy, Sheryl S., Klee, Eric W., Tan, Queenie K.-G., Lorenzo, Damaris N.
में प्रकाशित Nat Genet (2021)

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

द्वारा Radio, Francesca Clementina, Pang, Kaifang, Ciolfi, Andrea, Levy, Michael A., Hernández-García, Andrés, Pedace, Lucia, Pantaleoni, Francesca, Liu, Zhandong, de Boer, Elke, Jackson, Adam, Bruselles, Alessandro, McConkey, Haley, Stellacci, Emilia, Lo Cicero, Stefania, Motta, Marialetizia, Carrozzo, Rosalba, Dentici, Maria Lisa, McWalter, Kirsty, Desai, Megha, Monaghan, Kristin G., Telegrafi, Aida, Philippe, Christophe, Vitobello, Antonio, Au, Margaret, Grand, Katheryn, Sanchez-Lara, Pedro A., Baez, Joanne, Lindstrom, Kristin, Kulch, Peggy, Sebastian, Jessica, Madan-Khetarpal, Suneeta, Roadhouse, Chelsea, MacKenzie, Jennifer J., Monteleone, Berrin, Saunders, Carol J., Jean Cuevas, July K., Cross, Laura, Zhou, Dihong, Hartley, Taila, Sawyer, Sarah L., Monteiro, Fabíola Paoli, Secches, Tania Vertemati, Kok, Fernando, Schultz-Rogers, Laura E., Macke, Erica L., Morava, Eva, Klee, Eric W., Kemppainen, Jennifer, Iascone, Maria, Selicorni, Angelo, Tenconi, Romano, Amor, David J., Pais, Lynn, Gallacher, Lyndon, Turnpenny, Peter D., Stals, Karen, Ellard, Sian, Cabet, Sara, Lesca, Gaetan, Pascal, Joset, Steindl, Katharina, Ravid, Sarit, Weiss, Karin, Castle, Alison M.R., Carter, Melissa T., Kalsner, Louisa, de Vries, Bert B.A., van Bon, Bregje W., Wevers, Marijke R., Pfundt, Rolph, Stegmann, Alexander P.A., Kerr, Bronwyn, Kingston, Helen M., Chandler, Kate E., Sheehan, Willow, Elias, Abdallah F., Shinde, Deepali N., Towne, Meghan C., Robin, Nathaniel H., Goodloe, Dana, Vanderver, Adeline, Sherbini, Omar, Bluske, Krista, Hagelstrom, R. Tanner, Zanus, Caterina, Faletra, Flavio, Musante, Luciana, Kurtz-Nelson, Evangeline C., Earl, Rachel K., Anderlid, Britt-Marie, Morin, Gilles, van Slegtenhorst, Marjon, Diderich, Karin E.M., Brooks, Alice S., Gribnau, Joost, Boers, Ruben G., Finestra, Teresa Robert, Carter, Lauren B., Rauch, Anita, Gasparini, Paolo, Boycott, Kym M., Barakat, Tahsin Stefan, Graham, John M., Faivre, Laurence, Banka, Siddharth, Wang, Tianyun, Eichler, Evan E., Priolo, Manuela, Dallapiccola, Bruno, Vissers, Lisenka E.L.M., Sadikovic, Bekim, Scott, Daryl A., Holder, Jimmy Lloyd, Tartaglia, Marco
में प्रकाशित Am J Hum Genet (2021)