Emily Bryant Kirschenblatt, MS, LCGC

American Journal of Medical Genetics 2020: OSTC-CDG: a novel congenital disorder of glycosylation
o Authors: Bryant EM, Millichap JJ, Spinelli E, Calhoun JD, Miller C, Giannelli J, Wolak J,
Sanders V, Carvill GL, Charrow J
▪ Genetics in Medicine 2020: Phenotypic spectrum and transcriptomic profile associated with germline variants in
TRAF7
o Authors: Laura Castilla-Vallmanya, MSc, Kaja K. Selmer, MD, PhD, Clemantine Dimartino,
MSc, Raquel Rabionet, PhD, Bernardo Blanco-Sánchez, PhD, Sandra Yang, MS, CGC, Margot
Reijnders, MD, PhD, Ton Van Essen, MD, PhD, Myriam Oufadem, MSc, Magnus D. Vigeland,
PhD, Barbro Stadheim, MD, Gunnar Houge, MD, PhD, Helen Cox, MD, Helen Kingston, MD,
Jill Clayton-Smith, MD, Jeffrey W. Innis, MD, PhD, Maria Iascone, PhD, Anna Cereda, MD,
Sara Gabbiadini, MD, Wendy K. Chung, MD, PhD, Victoria Sanders, MS, CGC, Joel Charrow,
MD, Emily Bryant, MS, CGC, John Millichap, MD, Antonio Vitobello, PhD, Christel Thauvin,
MD, PhD, Frederic Tran Mau-Them, MD, Laurence Faivre, MD, PhD, Gaetan Lesca MD,
Audrey Labalme, MSc, Christelle Rougeot, MD, Nicolas Chatron, MD, Damien Sanlaville, MD,
PhD, Katherine M. Christensen, MS, CGC, Amelia Kirby, MD, Raymond Lewandowski, MD,
Rachel Gannaway, MS, CGC, Maha Aly, MSc, Anna Lehman, MD, Lorne Clarke, MD, Luitgard
Graul-Neumann, MD, Christiane Zweier, MD, PhD, Davor Lessel, MD, Bernarda Lozic, MD,
Ryan Peretz, MD, Robert Stratton, MD, Thomas Smol, MD, Anne Dieux-Coëslier, MD, Joanna
Meira, MD, MSc, Elizabeth Wohler, MS, Nara Sobreira, MD, PhD, Erin M. Beaver, MS, CGC,
Jennifer Heeley, MD, Lauren C. Briere, MS, CGC, Frances High, MD, David Sweetser, MD,
Catherine E. Keegan, MD, PhD, Parul Jayakar, MD, Marwan Shinawi, MD, Mieke Kerstjens,
MD, PhD, Dawn L. Earl, ARNP, Victoria M. Siu, MD, Emma Reesor, BA, Undiagnosed Diseases
Network, Care4Rare Canada Consortium, Kevin A. Shapiro, MD, PhD, Brian Wong, MD,
Michael Gambello, MD, PhD, Marie McDonald, MD, Danielle Karlowicz, CGC, Lynn Pais, MS,
Anne O’Donnell, MD, PhD, Alison Wray, MD, Simon Sadedin, PhD, Belinda Chong, PhD, Tiong
Y. Tan, MD, PhD, John Christodoulou, MD, PhD, Sue White, MD, Anne Slavotinek, MD, PhD,
Deborah Barbouth, MD, Dayna Morel, MS, CGC, Christine Bole-Feysot, PhD, Patrick Nitschké,
PhD, Véronique Pingault, PhD, Arnold Munnich, MD, PhD, Megan T. Cho, MSc, CGC, Valérie
Cormier-Daire, MD, PhD, Susanna Balcells, PhD, Stanislas Lyonnet, MD, PhD, Daniel
Grinberg, PhD, Jeanne Amiel, MD, PhD, Roser Urreizti, PhD, Christopher T. Gordon, PhD
▪ Genetics in Medicine 2020: De novo variants of NR4A2 are associated with neurodevelopmental disorder
and epilepsy
o Authors: Sakshi Singh PhD, Aditi Gupta PhD, Michael Zech MD, Ashley N. Sigafoos BS, Karl J.
Clark PhD, Yasemin Dincer MS, Matias Wagner MD, Jennifer B. Humberson MD, Sarah Green
MS, Koen van Gassen PhD, Tracy Brandt PhD FACMG, Rhonda E. Schnur MD FACMG,
Francisca Millan MD FACMG, Yue Si MD Ph.D, Volker Mall, MD, Juliane Winkelmann MD,
Ralitza H. Gavrilova MD, Eric W. Klee PhD, Kendra Engleman MS, Nicole P. Safina MD, Rachel
Slaugh MS, Emily M. Bryant MS, Wen-Hann Tan BMBS, Jorge Granadillo MD, Sunita N. Misra
MD PhD, G. Bradley Schaefer MD, Shelley Towner MS, Eva H. Brilstra MD PhD, Bobby P. C.
Koeleman PhD
▪ American Epilepsy Society 2019 Poster Presentation: OSTC-CDG – a novel congenital disorder of
glycosylation with infantile spasms, focal seizures, dysmorphic features, and multi-organ dysfunction
o Authors: Bryant EM, Millichap JJ, Spinelli E, Giannelli J, Wolak J, Sanders V, Carvill G,
Charrow J
▪ American Journal of Human Genetics 2019: Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive
Epilepsy-Dyskinesia
4
o Authors: Kathleen M Gorman, Esther Meyer, Detelina Grozeva, Egidio Spinelli, Amy
McTague, Alba Sanchis-Juan, Keren J Carss, Emily Bryant, Adi Reich, Amy L Schneider, Ronit
M Pressler, Michael A Simpson, Geoff D Debelle, Evangeline Wassmer, Jenny Morton, Diana
Sieciechowicz, Eric Jan-Kamsteeg, Alex R Paciorkowski, Mary D King, J Helen Cross,
Annapurna Poduri, Heather C Mefford, Ingrid E Scheffer, Tobias B Haack, Gary McCullagh,
Deciphering Developmental Disorders Study; UK10K Consortium, NIHR BioResource, John J
Millichap, Gemma L Carvill, Jill Clayton-Smith, Eamonn R Maher, F Lucy Raymond, Manju A
Kurian
▪ Human Mutation 2019: Biallelic Variants in CTU2 Cause DREAM-PL Syndrome and Impair Thiolation of
tRNA Wobble U34
o Authors: Ranad Shaheen, Paul Mark, Christopher T Prevost, Adila AlKindi, Ahmad Alhag,
Fatima Estwani, Tarfa Al-Sheddi, Eman Alobeid, Mona M Alenazi, Nour Ewida, Niema
Ibrahim, Mais Hashem, Firdous Abdulwahab, Emily M. Bryant, Egidio Spinelli, John
Millichap, Sarah S. Barnett, Hutton M Kearney, Andrea Accogli, Marcello Scala, Valeria
Capra, Vincenzo Nigro, Dragony Fu, Fowzan S Alkuraya
▪ Child Neurology Society Poster Presentation 2018: Evaluation of the Response of Different Anti-epileptic
Drugs in Children with SCN2A Pathogenic Variants
o Authors: O’Connor JB, Golbeck ER, Bryant EM, Laux L, Berg AT, Millichap JJ
▪ American Epilepsy Society 2018: Yield of Whole Exome Sequencing after a negative targeted epilepsy
gene panel: experience from an epilepsy genetics program
o Authors: Spinelli E, Bryant EM, Nowicki J, Garcia-Sosa R, Misra SN, Tatachar P, Carvill G, Berg
AT, Laux LC, Millichap JJ
▪ National Society of Genetic Counselors Annual Education Conference Poster Presentation 2015: The
Path to Inclusion: Parents’ Perspective on the Transition of Children with Down syndrome into an Inclusion
Classroom
o Authors: Bryant EM, Toler T, Lombardo A, Heffernan J, Rosenfield J