ScienceDex / Researcher record

Heather C. Mefford

St. Jude Children's Research Hospital · Anatomy & Cell Biology (investigator's affiliation)

From the FY2025 NIH awards this investigator leads as contact PI. The department is the award's.

FY2025 NIH rank #23,248

Unclaimed recordClaim profile

Early Career

NIH Funding · FY2025

Linked Award Amount

$701.9K

Full award amounts, FY2025

Award Records

Records listing this PI

Award-Linked Rank

#23,248

By linked amount among FY2025 PIs

Earliest Year Loaded

2025

ScienceDex PI coverage

Award-linked funding history

Linked NIH award amounts and rank by fiscal year.

Linked awards ($M)Award-linked rank

View yearly values

Award-linked funding and rank by fiscal year
Fiscal year	Linked awards	Records	Rank
2025	$701,915	2	#23,248
2026	$610,734	2	#29,651

Award activity

Awards through the years

NIH award records listing this researcher in each fiscal year.

FY2025 · selected2 records
FY20262 records

Each bar starts at zero. Annual records can include renewals of the same project; they are not a count of distinct career grants.

Publications

Publications indexed by OpenAlex · 392 papers · Updated Sep 23, 2026

Career publication snapshot, independent of the selected NIH funding year. Retracted works and paratext are excluded.

OpenAlex author record

392 papers · Page 9 of 20

Dravet syndrome in South African infants: Tools for an early diagnosis
Alina Izabela Esterhuizen, Heather C. Mefford, Raj Ramesar, Shuyu Wang, Gemma L. Carvill, Jo M. Wilmshurst
Seizure · 2018
OpenAlex record Open-access version
15 citations
Return of individual results in epilepsy genomic research: A view from the field
Ruth Ottman, Catharine Freyer, Heather C. Mefford, Annapurna H. Poduri, Daniel H. Lowenstein, Epilepsy Return of Results Workshop Participants
Epilepsia · 2018
OpenAlex record Open-access version
11 citations
Expanding role of GABAA receptors in generalised epilepsies
Heather C. Mefford
The Lancet Neurology · 2018
OpenAlex record
5 citations
Severe neurocognitive and growth disorders due to variation in THOC2 , an essential component of nuclear mRNA export machinery
Raman Kumar, Alison E. Gardner, Claire C. Homan, Evelyn Douglas, Heather C. Mefford, Dagmar Wieczorek · Show all listed authors
Raman Kumar, Alison E. Gardner, Claire C. Homan, Evelyn Douglas, Heather C. Mefford, Dagmar Wieczorek, Hermann‐Josef Lüdecke, Zornitza Stark, Simon P. Sadedin, The Broad CMG, Catherine Bearce Nowak, Jessica Douglas, Gretchen M. Parsons, Paul R. Mark, Lourdes Loidi, Gail E. Herman, Theresa Mihalic Mosher, Meredith K. Gillespie, Lauren Brady, Mark Andrew Tarnopolsky, Irene Madrigal, Jesús Manuel Eirís Puñal, Laura Domènech, Raquel Rabionet, Tim Matthias Strom, Naoko Ishihara, Hidehito Inagaki, Hiroki Kurahashi, Tracy Dudding‐Byth, Elizabeth E. Palmer, Michael J. Field, Jozef Gécz
Human Mutation · 2018
OpenAlex record Open-access version
24 citations
A population‐based cost‐effectiveness study of early genetic testing in severe epilepsies of infancy
Katherine B. Howell, Stefanie Eggers, Kim Dalziel, Jessica R. Riseley, Simone Alyson Mandelstam, Candace T. Myers · Show all listed authors
Katherine B. Howell, Stefanie Eggers, Kim Dalziel, Jessica R. Riseley, Simone Alyson Mandelstam, Candace T. Myers, Jacinta M. McMahon, Amy Schneider, Gemma L. Carvill, Heather C. Mefford, the Victorian Severe Epilepsy of Infancy Study Group, Ingrid Eileen Scheffer, Anthony Simon Harvey
Epilepsia · 2018
OpenAlex record Open-access version
117 citations
Genetic literacy series: Primer part 2—Paradigm shifts in epilepsy genetics
Ingo Helbig, Erin L. Heinzen, Heather C. Mefford, the International League Against Epilepsy Genetics Commission
Epilepsia · 2018
OpenAlex record Open-access version
23 citations
Parental Mosaicism in “De Novo” Epileptic Encephalopathies
Candace T. Myers, Georgina Hollingsworth, Alison M. Muir, Amy Schneider, Zoe Thuesmunn, Allison Knupp · Show all listed authors
Candace T. Myers, Georgina Hollingsworth, Alison M. Muir, Amy Schneider, Zoe Thuesmunn, Allison Knupp, Chontelle King, Amy J. LaCroix, Michele G. Mehaffey, Samuel Frank Berkovic, Gemma L. Carvill, Lynette Grant Sadleir, Ingrid Eileen Scheffer, Heather C. Mefford
New England Journal of Medicine · 2018
OpenAlex record Open-access version
151 citations
Faculty Opinions recommendation of Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.
Heather C. Mefford
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2018
OpenAlex record
0 citations
The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant
Nicolas Chatron, Rikke Steensbjerre Møller, Neena L. Champaigne, Amy Schneider, Alma Kuechler, Audrey Labalme · Show all listed authors
Nicolas Chatron, Rikke Steensbjerre Møller, Neena L. Champaigne, Amy Schneider, Alma Kuechler, Audrey Labalme, Thomas Simonet, Lauren Baggett, Claire Bardel, Erik‐Jan Kamsteeg, Rolph Pfundt, Corrado Romano, Johan Aronsson, A Alberti, Mirella Vinci, Maria Jose Miranda, Amy J. LaCroix, Dragan Marjanović, Vincent des Portes, Patrick Edery, Dagmar Wieczorek, Elena Gardella, Ingrid Eileen Scheffer, Heather C. Mefford, Damien Sanlaville, Gemma L. Carvill, Gaëtan Lesca
Annals of Neurology · 2018
OpenAlex record Open-access version
29 citations
Defining the phenotypic spectrum of SLC6A1 mutations
Katrine M. Johannesen, Elena Gardella, Tarja Linnankivi, Carolina Courage, Anne de Saint Martin, Anna‐Elina Lehesjoki · Show all listed authors
Katrine M. Johannesen, Elena Gardella, Tarja Linnankivi, Carolina Courage, Anne de Saint Martin, Anna‐Elina Lehesjoki, Cyril Mignot, Alexandra Afenjar, Gaëtan Lesca, Marie‐Thérèse Abi‐Warde, Jamel Chelly, Amélie Piton, J. Lawrence Merritt, Lance H. Rodan, Wen‐Hann Tan, Lynne M. Bird, Mark Nespeca, Joseph G. Gleeson, Yongjin Yoo, Murim Choi, Jong‐Hee Chae, Desiree Czapansky-Beilman, Sara Chadwick Reichert, Manuela Pendziwiat, Judith S. Verhoeven, Helenius Jurgen Schelhaas, Orrin Devinsky, Jakob Christensen, Nicola Specchio, Marina Trivisano, Yvonne G. Weber, Caroline Nava, Boris Keren, Diane Doummar, Élise Schaefer, Sarah E. Hopkins, Holly A. Dubbs, Jessica E. Shaw, Laura Rosa Pisani, Candace T. Myers, Sha Tang, Shan S. Tang, Deb Kumar Pal, J Gordon Millichap, Gemma L. Carvill, Kathrine L. Helbig, Oriano Mecarelli, Pasquale Striano, Ingo Helbig, Guido Rubboli, Heather C. Mefford, Rikke Steensbjerre Møller
Epilepsia · 2018
OpenAlex record Open-access version
155 citations
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria
Andrew E. Fry, Katherine A. Fawcett, Nathanel Zelnik, Hongjie Yuan, Belinda A.N. Thompson, Lilach Shemer-Meiri · Show all listed authors
Andrew E. Fry, Katherine A. Fawcett, Nathanel Zelnik, Hongjie Yuan, Belinda A.N. Thompson, Lilach Shemer-Meiri, Thomas David Cushion, Hood Mugalaasi, David Sims, Neil Stoodley, Seo‐Kyung Chung, Mark I. Rees, Chirag Patel, Louise A. Brueton, Valérie Layet, Fabienne Giuliano, Michael Kerr, Ehud Banne, Vardiella Meiner, Tally Lerman‐Sagie, Katherine L. Helbig, Laura H. Kofman, Kristin M. Knight, Wenjuan Chen, Varun Kannan, Chun Hu, Hirofumi Kusumoto, Jin Zhang, Sharon A. Swanger, Gil H. Shaulsky, Ghayda Mirzaa, Alison M. Muir, Heather C. Mefford, William B. Dobyns, Amanda B. Mackenzie, Jonathan G.L. Mullins, Johannes R. Lemke, Nadia Bahi‐Buisson, Stephen F. Traynelis, Heledd F Iago, Daniela T. Pilz
Brain · 2017
OpenAlex record Open-access version
104 citations
Erratum To: Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy
Borislav Dejanovic, Tania Djémié, Nora Grünewald, Arvid Suls, Vanessa Kress, Florian Hetsch · Show all listed authors
Borislav Dejanovic, Tania Djémié, Nora Grünewald, Arvid Suls, Vanessa Kress, Florian Hetsch, Dana Craiu, Matthew Zemel, Padhraig Gormley, Dennis Lal, EuroEPINOMICS Dravet working group, Candace T. Myers, Heather C. Mefford, Aarno V. Palotie, Ingo Helbig, Jochen C. Meier, Peter De Jonghe, Sarah Weckhuysen, Günter Schwarz
EMBO Molecular Medicine · 2017
OpenAlex record Open-access version
6 citations
Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR 45
Gemma L. Carvill, Aijie Liu, Simone Alyson Mandelstam, Amy Schneider, Amy J. LaCroix, Matthew Zemel · Show all listed authors
Gemma L. Carvill, Aijie Liu, Simone Alyson Mandelstam, Amy Schneider, Amy J. LaCroix, Matthew Zemel, Jacinta M. McMahon, Luis E. Bello‐Espinosa, Mark Thomas Mackay, Geoff Wallace, Michaela Waak, Jing Zhang, Xiaoling Yang, Stephen Malone, Yue‐Hua Zhang, Heather C. Mefford, Ingrid Eileen Scheffer
Epilepsia · 2017
OpenAlex record Open-access version
59 citations
Faculty Opinions recommendation of Functional Consequences of CHRNA7 Copy-Number Alterations in Induced Pluripotent Stem Cells and Neural Progenitor Cells.
Heather C. Mefford
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2017
OpenAlex record
0 citations
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
Fadi F. Hamdan, Candace T. Myers, Patrick Cossette, Philippe Lemay, Dan Spiegelman, Alexandre Dionne Laporte · Show all listed authors
Fadi F. Hamdan, Candace T. Myers, Patrick Cossette, Philippe Lemay, Dan Spiegelman, Alexandre Dionne Laporte, Christina Nassif, Ousmane Diallo, Jean Monlong, Maxime Cadieux‐Dion, Sylvia Dobrzeniecka, Caroline Meloche, Kyle Retterer, Megan T. Cho, Jill A. Rosenfeld, Weimin Bi, Christine Massicotte, Marguerite Miguet, Ledia Brunga, Brigid M. Regan, Kelly Mo, Cory Tam, Amy Schneider, Georgie Hollingsworth, David R FitzPatrick, Alan Donaldson, Natalie L.E. Canham, Edward M. Blair, Bronwyn A. Kerr, Andrew E. Fry, Rhys Huw Thomas, Joss Shelagh, Jane A. Hurst, Helen K. Brittain, Moira Blyth, Robert Roger Lebel, Erica H. Gerkes, Laura Davis‐Keppen, Quinn Stein, Wendy K. Chung, Sara J. Dorison, Paul J. Benke, Emily Fassi, Nicole Corsten‐Janssen, Erik‐Jan Kamsteeg, Frédéric Tran Mau‐Them, Ange‐Line Bruel, Alain Verloès, Katrin Õunap, Monica Hsiung Wojcik, Dara V.F. Albert, Sunita Venkateswaran, Tyson L. Ware, Dean L. Jones, Yu‐Chi Liu, Shekeeb S. Mohammad, Peyman Bizargity, Carlos A. Bacino, Vincenzo Leuzzi, Simone Martinelli, Bruno Dallapiccola, Marco Tartaglia, Lubov Blumkin, Klaas J. Wierenga, Gabriela Purcarin, James J. O’Byrne, Sylvia Stöckler, Anna Lehman, Boris Keren, Marie‐Christine Nouguès, Cyril Mignot, Stéphane Auvin, Caroline Nava, Susan M. Hiatt, Martina Bebin, Yunru Shao, Fernando Scaglia, Seema R. Lalani, Richard E. Frye, Imad T. Jarjour, Stéphanie Jacques, Renée‐Myriam Boucher, Émilie Riou, Myriam Srour, Lionel Carmant, Anne Lortie, Philippe Major, Paola Diadori, François Dubeau, Guy D’Anjou, Guillaume Bourque, Samuel Frank Berkovic, Lynette Grant Sadleir, Philippe M. Campeau, Zoha Kibar, Ronald G.A. Lafrenière, Simon Girard, Saadet Mercimek‐Mahmutoglu, Cyrus G. Boelman, Guy Armand Rouleau, Ingrid Eileen Scheffer, Heather C. Mefford, Danielle Molinari Andrade, Elsa Rossignol, Berge Arakel Minassian, Jacques L. Michaud
OpenAlex may have truncated this author list.
The American Journal of Human Genetics · 2017
OpenAlex record Open-access version
Prospective investigation of FOXP1 syndrome
Paige M. Siper, Silvia De Rubeis, Maria del Pilar Trelles, Allison Durkin, Daniele Di Marino, François Muratet · Show all listed authors
Paige M. Siper, Silvia De Rubeis, Maria del Pilar Trelles, Allison Durkin, Daniele Di Marino, François Muratet, Yitzchak Frank, Reymundo Lozano, Evan E. Eichler, Morgan Kelly, Jennifer S. Beighley, Jennifer A. Gerdts, Arianne Stevens Wallace, Heather C. Mefford, Raphael Bernier, Alexander Kolevzon, Joseph D. Buxbaum
Molecular Autism · 2017
OpenAlex record Open-access version
101 citations
Clinical phenotype of ASD-associated DYRK1A haploinsufficiency
Rachel K. Earl, Tychele N. Turner, Heather C. Mefford, Caitlin M. Hudac, Jennifer A. Gerdts, Evan E. Eichler · Show all listed authors
Rachel K. Earl, Tychele N. Turner, Heather C. Mefford, Caitlin M. Hudac, Jennifer A. Gerdts, Evan E. Eichler, Raphael Bernier
Molecular Autism · 2017
OpenAlex record Open-access version
79 citations
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures
Candace T. Myers, Nicholas Stong, Emily I. Mountier, Katherine L. Helbig, Saskia Freytag, Joseph E. Sullivan · Show all listed authors
Candace T. Myers, Nicholas Stong, Emily I. Mountier, Katherine L. Helbig, Saskia Freytag, Joseph E. Sullivan, Bruria Ben Zeev, Andreea Nissenkorn, Michal Tzadok, Gali Heimer, Deepali N. Shinde, Arezoo Rezazadeh, Brigid M. Regan, Karen L. Oliver, Michelle E. Ernst, Natalie C. Lippa, Maureen Mulhern, Zhong Ren, Annapurna H. Poduri, Danielle Molinari Andrade, Lynne M. Bird, Melanie Bahlo, Samuel Frank Berkovic, Daniel H. Lowenstein, Ingrid Eileen Scheffer, Lynette Grant Sadleir, David B. Goldstein, Heather C. Mefford, Erin L. Heinzen
The American Journal of Human Genetics · 2017
OpenAlex record Open-access version
73 citations
Not all SCN1A epileptic encephalopathies are Dravet syndrome
Lynette Grant Sadleir, Emily I. Mountier, Deepak S. Gill, Suzanne L. Davis, Charuta Joshi, Catherine J DeVile · Show all listed authors
Lynette Grant Sadleir, Emily I. Mountier, Deepak S. Gill, Suzanne L. Davis, Charuta Joshi, Catherine J DeVile, Manju A. Kurian, For the DDD Study, Simone Alyson Mandelstam, Elaine C. Wirrell, Katherine C. Nickels, Hema R. Murali, Gemma L. Carvill, Candace T. Myers, Heather C. Mefford, Ingrid Eileen Scheffer, DDD Study, A. Paul Bevan, Abhijit Dixit, Abigail Pridham, Adrian R. Tivey, Ajoy Krishna Sarkar, Alan Donaldson, Alan E Fryer, Alejandro Sifrim, Alex Henderson, Alex C. Magee, Alexis E. Duncan, Alison Kraus, Alison M. Male, Alison J. Ross, Amanda Collins, Anand K. Saggar, Andrea Coates, Andrea Hilary Nemeth, Andrew E. Fry, Andrew Green, Andrew C. Jackson, Andrew M. Norman, Angela J Barnicoat, Angela Brady, Angela Douglas, Angus John Clarke, Angus Dobbie, Ann Selby, Anna Middleton, Anne Lampe, Anneke Seller, Annie Procter, Karenza Evans, Anthony Vandersteen, Astrid Weber, Audrey Smith, Audrey Torokwa, Beckie Kaemba, Becky Treacy, Beiyuan Fu, Ben Hutton, Birgitta Bernhard, Bronwyn A. Kerr, Bruce Castle, Carina Donnelly, Carol A. Gardiner, Carol Scott, Carole Brewer, Caroline Fiona Wright, Caroline Langman, Caroline Mackie Ogilvie, Caroline Pottinger, Carolyn J. Tysoe, Cat Taylor, Catherine A. McWilliam, Charles J Shaw-Smith, Charu Deshpande, Cheryl Longman, Cheryl Sequeira, Chirag Patel, CHRIS P. A. BENNETT, Chris Nellåker, Christopher Wragg, Claire W. Kirk, Claire E. Turner, Daniel A. King, Daniel M. Barrett, Daniel Perrett, Daniela T. Pilz, Danielle Walker, David U. Baty, David Bohanna, David W. Bourn, David R. Goudie, David J. Bunyan, David Jones, David Moore, David R FitzPatrick, David R FitzPatrick, Debbie Rice, Debbie Shears, Deirdre D. Cilliers, Deirdre Donnelly, Denise Williams, Derek Lim, Dhavendra Kumar, Emma McCann, Dian Donnai, Diana Baralle, Diana E Johnson, Diana Rajan, Diana Gay Wellesley, Dominic J. McMullan, Douglas J. Simpkin, Dragana J. Josifova, Dylan H. de Vries, Eamonn G. Sheridan, E.R. Maher, Edward M. Blair, Eileen Roberts, Elena Chatzimichali, Elena Prigmore, Elisabeth M. Rosser, Elizabeth A. Jones, Elizabeth M. Sweeney, Emily Wilkinson, Emma Gray, Pipelines Staff, Emma Hobson, Emma C. Kivuva, Emma K. Miles, Emma Shearing, Emma L. Wakeling, Esther Kinning, Eugene Bragin, Eve L. Coomber, Fentang Yang, Fiona Connell, Fiona J. Stewart, Frances Elmslie, Frances A. Flinter, Ganesh Jawahar Swaminathan, Gail A. Kirby, Gareth S. Cross, Gemma Devlin, Geoff Woods, Georgina Hollingsworth, Gillian Roberts, Gordon R. Lowther, Harinder Singh Gill, Hayley L Archer, Helen Suzanne Cox, Helen V. Firth, Helen Kingston, Helen Murphy, Helen S. Stewart, Helen V. Firth, Hellen Purnell, Hood Mugalaasi, Ian Ogilvie Ellis, Ingrid J. Scurr, Ingrid Simonic, Irina Colgiu, Jacqueline Eason, Jana Awada, Jane A. Hurst, Jeffrey C. Barrett, Jenny Morton, Jenny Thomson, Jeremy F. McRae, Jill Clayton‐Smith, Joan Paterson, Joanna Jarvis, Joanna Kaplanis, Joanna Poulton, John Burn, John L. Burton, John Dean, John Tolmie, Jonathan S. Berg, Jonathan S. Roberts, Jonathon Waters, Josh Randall, Judith Goodship, Julia Rankin, Julian R. Sampson, Julie M. Phipps, Julie A. Vogt, Kai‐Ren Ong, Karen J. Marks, Kate Brunstrom, Kate Chandler, Kate Tatton‐Brown, Kath Smith, Katherine I. Morley, Katherine L. Lachlan, I. Karen Temple, Katherine Martin, Katrina Prescott, Kay Metcalfe, Kirsten McKay, Kirsty Ambridge, Lara Cresswell, Laura E. Mason, Laura M. Yates, Leema Robert, Lily Islam, Linda Sneddon, Lisa C. Bradley, Liu He, Lorraine Gaunt, Louise Bourdon, Louise A. Brueton, Louise Nevitt, Louise Wilson, Lucy Harrison, Lucy Hilyard, Lucy Jenkins, Lucy Raymond, Lynn Greenhalgh, Marc D. Tischkowitz, Margo Whiteford, Margriet van Kogelenberg, Maria A. K. Bitner-Glindzicz, Mariella D’Alessandro, Martin Pollard, Matthew E. Hurles, Meena Balasubramanian, Melissa M. Lees, Melita D. Irving, Meriel McEntagart, Mervyn W. Humphreys, Michael W. Parker, Michael Parker, Michael Parker, Michael Wright, Michael Yau, Miranda P. Splitt, Miranda Squires, Mohnish Suri, Mohsan Alvi, Moira Blyth, Morag N. Collinson, Munaza Ahmed, Muriel Holder, Nadia A. Akawi, Natalie L.E. Canham, Neeti Ghali, Netravathi Krishnappa, Nicola S. Cooper, Nicola C. Foulds, Nicola Ragge, Nicola C. Williams, Nigel P. Carter, Nora L. Shannon, Norman Pratt, Oliver W J Quarrell, Paul J. Batstone, Paul Roberts, Peter Ellis, Peter D. Turnpenny, Philip Greene, Philip Douglas Jones, Pradeep C. Vasudevan, Rachel E. Harrison, Raheleh Rahbari, Ray Miller, Richard J. Fisher, Richard J. Gibbons, Richard Sandford, Richard Scott, Robert Charles Andrews, Rohan Taylor, Roldan Singzon, Rose Hawkins, Rosemarie Davidson, Rosemary E. Kelsell, Rosie O’Shea, Ruby Banerjee, Ruth Armstrong, Ruth McGowan, Ruth A Newbury-Ecob, Saba Sharif, Mark Tein, Saeed Al-Turki, Sahar Mansour, Sally Ann Lynch, Sally J Davies, Sandra Kazembe, Sandra Louzada Gomes Pereira, Sara Widaa, Sarah Edkins, Sarah Everest, Sarah K. Hewitt, Sarah Smithson, Sarah Wallwark, Sarah Wilcox, Sarju G. Mehta, Sebastian S. Gerety, Shalaka Samant, Shane A McKee, Shehla N. Mohammed, Shelagh K. Joss, Sian Ellard, Siân Morgan, Siddharth Banka, Simon Brent, Simon T. Holden, Sofia Douzgou, Soo‐Mi Park, Stephen Clayton, Stephen W. Hellens, Stewart J. Payne, Stuart Aitken, Stuart Ingram, Sue Price, Susan Clasper, Susan M. Gribble, Susan Holder, Susan McNerlan, Susan E. Tomkins, Susann Schweiger, Suzannah J. Bumpstead, Swati Naik, Tabib Dabir, Tanya Bayzetinova, Tara Montgomery, Tarjinder Singh, Tessa Homfray, Tina Fendick, Tomas W. Fitzgerald, Tomas W. Fitzgerald, Trevor R. P. Cole, Una Maye, Uruj Anjum, Usha Kini, Vipul Kumar, Victoria Harrison, Victoria Murday, Vijaya Parthiban, Vinod Cherian Varghese, Virginia E. Clowes, Vivienne P. M. McConnell, V. Reid Sutton, Volker W. Straub, Wayne K. Lam, Wendy D. Jones, Yanick Joseph Crow, Zara Skitt, Zosia Miedzybrodzka
GRIN2B Encephalopathy: Novel Findings
Johannes R. Lemke, Mark Mintz, Christine M. Stanley, Douglas P. Smith, Tarja Linnankivi, Carolina Courage · Show all listed authors
Johannes R. Lemke, Mark Mintz, Christine M. Stanley, Douglas P. Smith, Tarja Linnankivi, Carolina Courage, Anna‐Elina Lehesjoki, Christian M. Korff, Emmanuelle Ranza, Floor Jansen, Tony Roscioli, John A. Lawson, Richard Jacob Leventer, Arndt Rolfs, Rami Abou Jamra, Elaine H. Zackai, Julie A. Jones, Dianalee McKnight, Amy Decker, Wen‐Hann Tan, Stephen F. Traynelis, Bodo Laube, William B. Dobyns, Nataliya Di Donato, Judith D. Ranells, Elysa Marco, Rena J. Vanzo, David Neal Franz, Anup M Patel, Kelly L. Jones, Sarah Parisotto, Helio F. Pedro, Lutz Dondit, Markus Wolff, Lauren Brady, Mark Andrew Tarnopolsky, Philippe Major, Stephanie J. Fox, Isabelle De Bie, Eirik Frengen, Cyril Mignot, Boris Keren, Christel Depienne, Darius J. Adams, Brad T. Tinkle, Marcia C. Willing, Sha Tang, Katherine L. Helbig, Henrike Heyne, Hirofumi Kusumoto, Chun Hu, Wenjuan Chen, Alexander Winschel, Hannah M. Schutz, Hongjie Yuan, Petter Strømme, Saskia Biskup, Dennis Döcker, Ethan M. Goldberg, Anne T. Berg, J Gordon Millichap, Uffe Birk Jensen, Rikke Steensbjerre Møller, Levinus A. Bok, Jasper van der Smagt, Mieke M. van Haelst, Eva H. Brilstra, Ingrid Eileen Scheffer, Lynette Grant Sadleir, Amy J. LaCroix, Alison Muir, Candace T. Myers, Heather C. Mefford, Tim Matthias Strom, Konrad Platzer
Journal or source not listed · 2017
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Researcher identity and coverage

Current affiliation: Not verified in ScienceDex.NIH award organizations may differ from a researcher's employer.
NIH RePORTER identity: Profile ID 2048128Search this ID in NIH RePORTER
ORCID iD: No ORCID iD on recordA researcher can add one by claiming this profile.
ScienceDex PI coverage: FY2025 through FY2026Career claims are limited to the years shown.Metrics use this researcher's latest loaded PI award year; ScienceDex is current through FY2027.

FY2025 award records by amount

NIH award records listing Heather C. Mefford as a PI. Multi-PI records show the full award amount for context.

2U24NS120854-04U24Co-investigator
ClinGen Expert Curation Panel for the Epilepsies
Children's Hospital of Philadelphia · Pediatrics (investigator's affiliation)
$424.4K
award amount
1R21NS142525-01R21Contact PI
Investigating the role of RHOBTB2 in DEE to develop novel therapies
St. Jude Children's Research Hospital · Anatomy & Cell Biology (investigator's affiliation)
$277.5K
award amount

Award organizations

Organizations that administered FY2025 awards listing Heather C. Mefford as a PI.

Children's Hospital of Philadelphia

$424.4K

1 grant

St. Jude Children's Research Hospital

$277.5K

1 grant

Coverage and award-record milestones

Computed from the fiscal years currently available in ScienceDex.

2025
First NIH Award
Children's Hospital of Philadelphia
2025
$500K Cumulative Funding
2026
$1M Cumulative Funding
2026
Multi-Institutional Research
Awards at 2 institutions

Shared-award investigators

Other investigators listed on at least one of the same NIH award records as Heather C. Mefford.

Ingo Helbig

Children's Hospital of Philadelphia

shared awards

Kimberly Wiltrout

Children's Hospital of Philadelphia

shared awards

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NIH Funding · FY2025

Award-linked funding history

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FY2024 NIH portfolio memberships

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Publications

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Researcher identity and coverage

FY2025 award records by amount

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