ScienceDex / Researcher record

Heather C. Mefford

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

From the FY2026 NIH awards this investigator leads as contact PI. The department is the award's.

FY2026 NIH rank #29,651

Unclaimed recordClaim profile

Early Career

NIH Funding · FY2026

Linked Award Amount

$610.7K

Full award amounts, FY2026

Award Records

Records listing this PI

Award-Linked Rank

#29,651

By linked amount among FY2026 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.

FY20252 records
FY2026 · selected2 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 5 of 20

Pathogenic MAST3 variants in the STK domain are associated with epilepsy
Egidio Spinelli, Kyle R. Christensen, Emily M. Bryant, Amy Schneider, Jennifer Rakotomamonjy, Alison M. Muir · Show all listed authors
Egidio Spinelli, Kyle R. Christensen, Emily M. Bryant, Amy Schneider, Jennifer Rakotomamonjy, Alison M. Muir, Jessica Giannelli, Rebecca Okashah Littlejohn, Elizabeth R. Roeder, Berkley Schmidt, William G. Wilson, Elysa J. Marco, Kazuhiro Iwama, Satoko Kumada, Tiziano Pisano, Carmen Barba, Eva H. Brilstra, Richard H. van Jaarsveld, Naomichi Matsumoto, Lance H. Rodan, Kirsty M. McWalter, Renzo Guerrini, Ingrid Eileen Scheffer, Heather C. Mefford, Simone Alyson Mandelstam, Linda Laux, J Gordon Millichap, Alicia Guemez‐Gamboa, Angus C. Nairn, Gemma L. Carvill
bioRxiv (Cold Spring Harbor Laboratory) · 2021
OpenAlex record Open-access version
2 citations
Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
Chiara Klöckner, Heinrich Sticht, Pia Zacher, Bernt Popp, Holly E. Babcock, Dewi P. Bakker · Show all listed authors
Chiara Klöckner, Heinrich Sticht, Pia Zacher, Bernt Popp, Holly E. Babcock, Dewi P. Bakker, Katy E Barwick, Michaela Veronika Bonfert, Carsten G. Bönnemann, Eva H. Brilstra, Wendy K. Chung, Angus John Clarke, Patrick W. Devine, Sandra C. Donkervoort, Jamie L. Fraser, Jennifer Friedman, Alyssa Gates, Jamal Ghoumid, Emma Hobson, Gabriella Ana Horvath, Jennifer Keller‐Ramey, Boris Keren, Manju A. Kurian, Virgina Lee, Kathleen A. Leppig, Johan Lundgren, Marie McDonald, Heather Marie McLaughlin, Amy McTague, Heather C. Mefford, Cyril Mignot, Mohamad A. Mikati, Caroline Nava, F. Lucy Raymond, Julian R. Sampson, Alba Sanchis-Juan, Vandana Shashi, Joseph T.C. Shieh, Marwan S. Shinawi, Anne Michele Slavotinek, Tommy Stödberg, Nicholas Stong, Jennifer A. Sullivan, Ashley C. Taylor, Tomi L. Toler, Marie-José van den Boogaard, Saskia N. van der Crabben, Koen L.I. van Gassen, Richard H. van Jaarsveld, Jessica Van Ziffle, Alexandrea F. Wadley, Matias Wagner, Kristen M. Wigby, Saskia Brigitte Wortmann, Yuri A. Zárate, Rikke Steensbjerre Møller, Johannes R. Lemke, Konrad Platzer
Genetics in Medicine · 2021
OpenAlex record Open-access version
2 citations
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria
Annalisa Vetro, Hang N. Nielsen, Rikke Holm, Robert F. Hevner, Elena Parrini, Zöe Powis · Show all listed authors
Annalisa Vetro, Hang N. Nielsen, Rikke Holm, Robert F. Hevner, Elena Parrini, Zöe Powis, Rikke Steensbjerre Møller, Cristina Bellan, Alessandro Simonati, Gaëtan Lesca, Katherine L. Helbig, Elizabeth E. Palmer, Davide Mei, Elisa Ballardini, Arie van Haeringen, Steffen Syrbe, Vincenzo Leuzzi, Giovanni Cioni, Cynthia J. Curry, Gregory Costain, Margherita Santucci, Karen Chong, Grazia M. S. Mancini, Jill Clayton‐Smith, Stefania Bigoni, Ingrid Eileen Scheffer, William B. Dobyns, Bente Vilsen, Renzo Guerrini, ATP1A2/A3-collaborators, Damien Sanlaville, Rani Sachdev, Ian Andrews, Francesco Mari, Anna Cavalli, Carmen Barba, Beatrice De Maria, Giampaolo Garani, Johannes R. Lemke, Mario Mastrangelo, Emily Tam, Elizabeth J Donner, Helen M. Branson, Fabíola Paoli Monteiro, Fernando Kok, Katherine B. Howell, Stephanie L. Leech, Heather C. Mefford, Alison M. Muir
Brain · 2021
OpenAlex record Open-access version
71 citations
The severe epilepsy syndromes of infancy: A population‐based study
Katherine B. Howell, Jeremy L. Freeman, Mark Thomas Mackay, Michael Collingwood Fahey, John S. Archer, Samuel Frank Berkovic · Show all listed authors
Katherine B. Howell, Jeremy L. Freeman, Mark Thomas Mackay, Michael Collingwood Fahey, John S. Archer, Samuel Frank Berkovic, Elizabeth Jiahui Chan, Gabriel Dabscheck, Stefanie Eggers, Michael J. Hayman, James Holberton, Rod W. Hunt, Susan E Jacobs, Andrew J. Kornberg, Richard Jacob Leventer, Simone Alyson Mandelstam, Jacinta M. McMahon, Heather C. Mefford, Julie Panetta, Jessica R. Riseley, Victoria Rodriguez‐Casero, Monique M. Ryan, Amy Schneider, Lindsay J. Smith, Zornitza Stark, Flora Y. Wong, Eppie Mildred Yiu, Ingrid Eileen Scheffer, Anthony Simon Harvey
Epilepsia · 2021
OpenAlex record
69 citations
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia
Alison M. Muir, Jennifer F. Gardner, Richard H. van Jaarsveld, Iris Lange, Jasper J. van der Smagt, Golder N. Wilson · Show all listed authors
Alison M. Muir, Jennifer F. Gardner, Richard H. van Jaarsveld, Iris Lange, Jasper J. van der Smagt, Golder N. Wilson, Holly A. Dubbs, Ethan M. Goldberg, Lia Zitano, Caleb P. Bupp, Jose Enrique Martínez, Myriam Srour, Andrea Accogli, Afnan AlHakeem, Meira R. Meltzer, Andrea Lynne Gropman, Carole Brewer, Richard C. Caswell, Tara Montgomery, Caoimhe S. McKenna, Shane A McKee, Corinna Powell, Pradeep C. Vasudevan, Angela F. Brady, Shelagh K. Joss, Carolyn J. Tysoe, Grace J. Noh, Mark Andrew Tarnopolsky, Lauren Brady, Muhammad Zafar, Samantha A. Schrier Vergano, Brianna Murray, L. Sawyer, Bryan E. Hainline, Katherine Sapp, Danielle DeMarzo, Darcy J. Huismann, Ingrid M. Wentzensen, Rhonda E. Schnur, Kristin G. Monaghan, Jane Juusola, Lindsay V. Rhodes, William B. Dobyns, François Lecoquierre, Alice Goldenberg, Tilman Polster, Susanne Axer-Schaefer, Konrad Platzer, Chiara Klöckner, Trevor L. Hoffman, Daniel G. MacArthur, Melanie O’Leary, Grace E. VanNoy, Eleina M. England, Vinod Cherian Varghese, Heather C. Mefford
Genetics in Medicine · 2021
OpenAlex record Open-access version
36 citations
The phenotypic spectrum of X‐linked, infantile onset ALG13 ‐related developmental and epileptic encephalopathy
Alexandre Datta, Nadia Bahi‐Buisson, Thierry Bienvenu, Sarah E. Buerki, Fiona Gardiner, Judith Helen Cross · Show all listed authors
Alexandre Datta, Nadia Bahi‐Buisson, Thierry Bienvenu, Sarah E. Buerki, Fiona Gardiner, Judith Helen Cross, Bénédicte Héron, Anna Kamińska, Christian M. Korff, Anne Fabienne Lepine, Gaëtan Lesca, Amy McTague, Heather C. Mefford, Cyril Mignot, Matthieu Milh, Amélie Piton, Ronit Pressler, Susanne Ruf, Lynette Grant Sadleir, Anne de Saint Martin, Koen L.I. van Gassen, Nienke E. Verbeek, Dorothee M. Ville, Nathalie Villeneuve, Pia Zacher, Ingrid Eileen Scheffer, Johannes R. Lemke
Epilepsia · 2021
OpenAlex record Open-access version
23 citations
Missense variants in CTNNB1 can be associated with vitreoretinopathy—Seven new cases of CTNNB1 ‐associated neurodevelopmental disorder including a previously unreported retinal phenotype
Linda Z. Rossetti, Mir Reza Bekheirnia, Andrea M. Lewis, Heather C. Mefford, Katie L. Golden‐Grant, Kristina Tarczy‐Hornoch · Show all listed authors
Linda Z. Rossetti, Mir Reza Bekheirnia, Andrea M. Lewis, Heather C. Mefford, Katie L. Golden‐Grant, Kristina Tarczy‐Hornoch, Lauren C. Briere, David A. Sweetser, Melissa Walker, Elijah Kravets, David A. Stevenson, Georgette Bruenner, Jessica Sebastian, Julia Knapo, Jill A. Rosenfeld, Paul C. Marcogliese, Undiagnosed Diseases Network, Michael F. Wangler
Molecular Genetics & Genomic Medicine · 2020
OpenAlex record Open-access version
27 citations
Developmental and epileptic encephalopathy: Personal utility of a genetic diagnosis for families
Jennifer S. Jeffrey, JANET M. LEATHEM, Chontelle King, Heather C. Mefford, Kirsty J. Ross, Lynette Grant Sadleir
Epilepsia Open · 2020
OpenAlex record Open-access version
36 citations
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
Chiara Klöckner, Heinrich Sticht, Pia Zacher, Bernt Popp, Holly E. Babcock, Dewi P. Bakker · Show all listed authors
Chiara Klöckner, Heinrich Sticht, Pia Zacher, Bernt Popp, Holly E. Babcock, Dewi P. Bakker, Katy E Barwick, Michaela Veronika Bonfert, Carsten G. Bönnemann, Eva H. Brilstra, Wendy K. Chung, Angus John Clarke, Patrick W. Devine, Sandra C. Donkervoort, Jamie L. Fraser, Jennifer Friedman, Alyssa Gates, Jamal Ghoumid, Emma Hobson, Gabriella Ana Horvath, Jennifer Keller‐Ramey, Boris Keren, Manju A. Kurian, Virgina Lee, Kathleen A. Leppig, Johan Lundgren, Marie McDonald, Heather Marie McLaughlin, Amy McTague, Heather C. Mefford, Cyril Mignot, Mohamad A. Mikati, Caroline Nava, F. Lucy Raymond, Julian R. Sampson, Alba Sanchis-Juan, Vandana Shashi, Joseph T.C. Shieh, Marwan S. Shinawi, Anne Michele Slavotinek, Tommy Stödberg, Nicholas Stong, Jennifer A. Sullivan, Ashley C. Taylor, Tomi L. Toler, Marie-José van den Boogaard, Saskia N. van der Crabben, Koen L.I. van Gassen, Richard H. van Jaarsveld, Jessica Van Ziffle, Alexandrea F. Wadley, Matias Wagner, Kristen M. Wigby, Saskia Brigitte Wortmann, Yuri A. Zárate, Rikke Steensbjerre Møller, Johannes R. Lemke, Konrad Platzer
Genetics in Medicine · 2020
OpenAlex record Open-access version
47 citations
FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability
Amy Schneider, Candace T. Myers, Alison M. Muir, Sophie Calvert, Alice Basinger, Michael Scott Perry · Show all listed authors
Amy Schneider, Candace T. Myers, Alison M. Muir, Sophie Calvert, Alice Basinger, Michael Scott Perry, Lance H. Rodan, Katherine L. Helbig, Chelsea Chambers, Kathleen Mary Gorman, Mary Dolores King, Sandra C. Donkervoort, Ariane G. Soldatos, Carsten G. Bönnemann, Nino Spataro, Elisabeth Gabau, Montserrat Arellano, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Elsa Rossignol, Fadi F. Hamdan, Jacques L. Michaud, Christopher D. Balak, Heather C. Mefford, Ingrid Eileen Scheffer
Epilepsia · 2020
OpenAlex record Open-access version
22 citations
Targeted long-read sequencing resolves complex structural variants and identifies missing disease-causing variants
Danny E. Miller, Arvis Sulovari, Tianyun Wang, Hailey Loucks, Kendra Hoekzema, Katherine M. Munson · Show all listed authors
Danny E. Miller, Arvis Sulovari, Tianyun Wang, Hailey Loucks, Kendra Hoekzema, Katherine M. Munson, Alexandra P. Lewis, Edith P. Almanza Fuerte, Catherine Randall Paschal, Jenny M. Thies, James T. Bennett, I. S. Glass, Katrina M. Dipple, Karynne Patterson, Emily S. Bonkowski, Zoe Nelson, Audrey E. Squire, Megan C. Sikes, Erika Beckman, Robin L. Bennett, Dawn Earl, Winston Lee, Rando L. Allikmets, Seth J. Perlman, Penny M. Chow, Anne V Hing, Margaret P Adam, Angela Sun, Christina T. Lam, Irene J. Chang, Tim Cherry, Jessica X. Chong, Michael J. Bamshad, Deborah A. Nickerson, Heather C. Mefford, Dan Doherty, Evan E. Eichler
bioRxiv (Cold Spring Harbor Laboratory) · 2020
OpenAlex record Open-access version
10 citations
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns
Hannah Stamberger, Trine Bjørg Hammer, Elena Gardella, Danique R.M. Vlaskamp, Birgitte Møllegaard Bertelsen, Simone Alyson Mandelstam · Show all listed authors
Hannah Stamberger, Trine Bjørg Hammer, Elena Gardella, Danique R.M. Vlaskamp, Birgitte Møllegaard Bertelsen, Simone Alyson Mandelstam, Iris Lange, Jing Zhang, Candace T. Myers, Christina Dühring Fenger, Zaid Afawi, Edith P. Almanza Fuerte, Danielle Molinari Andrade, Yunus Balcik, Bruria Ben Zeev, Mark F. Bennett, Samuel Frank Berkovic, Bertrand Isidor, Arjan Bouman, Eva H. Brilstra, Øyvind L. Busk, Anita G. Cairns, Roseline Caumes, Nicolas Chatron, Russell Clive Dale, Christa de Geus, Patrick Edery, Deepak S. Gill, Jacob Bie Granild-Jensen, Lauren B. Gunderson, Boudewijn W. Gunning, Gali Heimer, Johan Robert Helle, Michael S. Hildebrand, Georgie Hollingsworth, Volodymyr Kharytonov, Eric W. Klee, Bobby P.C. Koeleman, David A. Koolen, Christian M. Korff, Sébastien Küry, Gaëtan Lesca, Dorit Lev, Richard Jacob Leventer, Mark Thomas Mackay, Erica L. Macke, Meriel McEntagart, Shekeeb S. Mohammad, Pauline Monin, Martino Montomoli, Éva Morava, Sébastien Moutton, Alison M. Muir, Elena Parrini, Peter Procopis, Emmanuelle Ranza, Laura K. Reed, Philipp Sebastian Reif, Felix Rosenow, Massimiliano Rossi, Lynette Grant Sadleir, Tara R. Sadoway, Helenius Jurgen Schelhaas, Amy Schneider, Krati Shah, Ruth S. Shalev, Sanjay M. Sisodiya, Thomas Smol, Connie T. R. M. Stumpel, Kyra Eva Stuurman, Joseph D. Symonds, Frédéric Tran Mau‐Them, Nienke E. Verbeek, Judith S. Verhoeven, Geoff Wallace, Keren Yosovich, Yuri A. Zárate, Ayelet Zerem, Sameer M. Zuberi, Renzo Guerrini, Heather C. Mefford, Chirag Patel, Yue-Hua Zhang, Rikke Steensbjerre Møller, Ingrid Eileen Scheffer
Genetics in Medicine · 2020
OpenAlex record Open-access version
57 citations
Antiepileptic Drugs as Teratogens: The Mechanism Remains a Mystery
Heather C. Mefford
Epiliepsy currents/Epilepsy currents · 2020
OpenAlex record Open-access version
0 citations
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome
Claire Bar, Mathieu Kuchenbuch, Giulia Barcia, Amy Schneider, Melanie M. Jennesson, Gwenaël Le Guyader · Show all listed authors
Claire Bar, Mathieu Kuchenbuch, Giulia Barcia, Amy Schneider, Melanie M. Jennesson, Gwenaël Le Guyader, Gaëtan Lesca, Cyril Mignot, Martino Montomoli, Elena Parrini, Hervé Isnard, Anne Rolland, Boris Keren, Alexandra Afenjar, Nathalie Dorison, Lynette Grant Sadleir, Delphine Breuillard, Raphael Levy, Marlène Rio, S. Dupont, Susanna Negrin, Alberto Danieli, Emmanuel Scalais, Anne de Saint Martin, Salima El Chehadeh, Jamel Chelly, Alice Poisson, Anne-Sophie Lèbre, Anca Nica, Sylvie Odent, Tayeb Sékhara, V. Branković, Alice Goldenberg, Pascal Vrielynck, Damien Lederer, Hélène Maurey, Gaetano Terrone, Claude Besmond, Laurence Hubert, Patrick C. Berquin, Thierry Billette de Villemeur, Bertrand Isidor, Jeremy L. Freeman, Heather C. Mefford, Candace T. Myers, Katherine B. Howell, Andrés Rodríguez-Sacristán Cascajo, Pierre Meyer, David Geneviève, Agnès Guët, Diane Doummar, Julien Durigneux, Marieke F. van Dooren, Marie‐Claire Y. de Wit, Marion Gérard, Isabelle Marey, Arnold Munnich, Renzo Guerrini, Ingrid Eileen Scheffer, Edor Kabashi, Rima Nabbout
Epilepsia · 2020
OpenAlex record Open-access version
40 citations
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations
Dervla M. Connaughton, Rufeng Dai, Danielle J. Owen, Jonathan Marquez, Nina Mann, Adda L. Graham-Paquin · Show all listed authors
Dervla M. Connaughton, Rufeng Dai, Danielle J. Owen, Jonathan Marquez, Nina Mann, Adda L. Graham-Paquin, Makiko Nakayama, Étienne Coyaud, Estelle M. N. Laurent, Jonathan R. St‐Germain, Lot Snijders Blok, Arianna Vino, Verena Klämbt, Konstantin Deutsch, Chen‐Han Wilfred Wu, Caroline Maria Kolvenbach, Franziska Kause, Isabel Ottlewski, Ronen Schneider, Thomas M. Kitzler, Amar J. Majmundar, Florian Buerger, Ana C. Onuchic-Whitford, Youying Mao, Amy Kolb, Daanya Salmanullah, Evan Chen, Amelie T. van der Ven, Jia Rao, Hadas Ityel, Steve Seltzsam, Johanna M. Rieke, Jing Chen, Asaf Vivante, Daw‐Yang Hwang, Stefan Kohl, Gabriel C. Dworschak, Tobias F. Hermle, Marielle M. Alders, Tobias Bartolomaeus, Stuart B. Bauer, Michelle A. Baum, Eva H. Brilstra, Thomas D. Challman, Jacob W. Zyskind, Carrie E. Costin, Katrina M. Dipple, Floor A.M. Duijkers, Marcia Ferguson, David R FitzPatrick, Roger Fick, Ian A. Glass, Peter J. Hulick, Antonie D. Kline, Ilona Krey, Selvin Kumar, Weining Lu, Elysa J. Marco, Ingrid M. Wentzensen, Heather C. Mefford, Konrad Platzer, Inna Povolotskaya, Juliann M. Savatt, Н. В. Щербакова, Prabha Senguttuvan, Audrey E. Squire, Deborah R. Stein, Isabelle Thiffault, V. Yu. Voinova, Michael J.G. Somers, Michael A. Ferguson, Avram Z. Traum, Ghaleb H. Daouk, Ankana Daga, Nancy Rodig, Paulien A. Terhal, Ellen van Binsbergen, Loai Eid, Velibor B. Tasic, Hila Milo Rasouly, Tze Yin Lim, Dina F. Ahram, Ali G. Gharavi, Heiko Martin Reutter, Heidi L. Rehm, Daniel G. MacArthur, Monkol Lek, Kristen M. Laricchia, Richard P. Lifton, Hong Xu, Shrikant Mane, Simone Sanna‐Cherchi, Andrew D. Sharrocks, Brian Raught, Simon E. Fisher, Maxime Bouchard, Mustafa Kezar Khokha, Shirlee Shril, Friedhelm Hildebrandt
The American Journal of Human Genetics · 2020
OpenAlex record Open-access version
53 citations
Poison exons in neurodevelopment and disease
Gemma L. Carvill, Heather C. Mefford
Current Opinion in Genetics & Development · 2020
OpenAlex record Open-access version
62 citations
The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children
Amanda S. Freed, Sarah V. Clowes Candadai, Megan C. Sikes, Jenny M. Thies, Heather M. Byers, Jennifer N. Dines · Show all listed authors
Amanda S. Freed, Sarah V. Clowes Candadai, Megan C. Sikes, Jenny M. Thies, Heather M. Byers, Jennifer N. Dines, Mesaki Kenneth Ndugga-Kabuye, Mallory B. Smith, Katie Fogus, Heather C. Mefford, Christina T. Lam, Margaret P Adam, Angela Sun, John K. McGuire, Robert DiGeronimo, Katrina M. Dipple, Gail H. Deutsch, Zeenia Billimoria, James T. Bennett
The Journal of Pediatrics · 2020
OpenAlex record Open-access version
62 citations
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder
Pauline E. Schneeberger, Fanny Kortüm, Georg Christoph Korenke, Malik Alawi, René Santer, Mathias Woidy · Show all listed authors
Pauline E. Schneeberger, Fanny Kortüm, Georg Christoph Korenke, Malik Alawi, René Santer, Mathias Woidy, Daniela Buhaş, Stephanie J. Fox, Jane Juusola, Majid Alfadhel, Bryn D. Webb, Emanuele G. Coci, Rami Abou Jamra, Manuela Siekmeyer, Saskia Biskup, Corina Heller, Esther M. Maier, Poupak Javaher-Haghighi, Maria Francesca Bedeschi, Paola Francesca Ajmone, Maria Rosaria Iascone, Hilde Peeters, Katleen Ballon, Jaak Jaeken, Aroa Rodríguez Alonso, María Palomares‐Bralo, Fernando Santos‐Simarro, Marije E. C. Meuwissen, Diane Beysen, R. Frank Kooy, Henry Houlden, David P. Murphy, Mohammad Doosti, Ehsan Ghayoor Karimiani, Majid Mojarrad, Reza Maroofian, Lenka Nosková, Stanislav Kmoch, Tomáš Honzík, Heidi Cope, Amarilis Sanchez‐Valle, Undiagnosed Diseases Network, Maria T. Acosta, Margaret P Adam, David R. Adams, Pankaj B. Agrawal, Mercedes E. Alejandro, Justin C. Alvey, Laura M. Amendola, Ashley Andrews, Euan A. Ashley, Mahshid Sababi Azamian, Carlos A. Bacino, Güney Bademci, Eva H. Baker, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Michael Bamshad, Deborah Barbouth, Gabriel F. Batzli, Pinar Bayrak‐Toydemir, Anita E. Beck, Alan H. Beggs, Edward M. Behrens, Gill Bejerano, Jimmy Bennet, Beverly Berg-Rood, Raphael Bernier, Jonathan Adam Bernstein, Gerard T. Berry, Anna Bican, Stephanie Bivona, Elizabeth Blue, John Peyton Bohnsack, Carsten Bonnenmann, Devon E. Bonner, Lorenzo D. Botto, Brenna M. Boyd, Lauren C. Briere, Elly Brokamp, Gabrielle Brown, Elizabeth A. Burke, Lindsay Catherine Burrage, Manish J. Butte, Peter H. Byers, William E. Byrd, John C. Carey, Olveen Carrasquillo, Ta Chen Chang, Sirisak Chanprasert, Hsiao‐Tuan Chao, Gary Clark, Terra R. Coakley, Laurel A. Cobban, Joy D Cogan, Francis Sessions Cole, Heather A. Colley, Cynthia M. Cooper, Heidi Cope, William James Craigen, Andrew B. Crouse, Michael L. Cunningham, Precilla D’Souza, Hongzheng Dai, Surendra Dasari, Mariska Davids, Jyoti G. Dayal, Matthew A. Deardorff, Esteban C. Dell’Angelica, Shweta U. Dhar, Katrina M. Dipple, Daniel Doherty, Naghmeh Dorrani, Emilie D. Douine, David D. Draper, Laura Duncan, Dawn Earl, David J. Eckstein, Lisa Emrick, Christine M. Eng, Cecilia Esteves, Tyra Estwick, Marni J. Falk, Liliana Fernández, Carlos Gil Ferreira, Elizabeth L. Fieg, Paul Graham Fisher, Brent L. Fogel, Irman Forghani, Laure Frésard, William Allen Gahl, Ian A. Glass, Rena A. Godfrey, Katie L. Golden‐Grant, Alica M. Goldman, David B. Goldstein, Alana L. Grajewski, Catherine A. Groden, Andrea Lynne Gropman, Irma Gutierrez, Sihoun Hahn, Rizwan Hamid, Neil A. Hanchard, Kelly Hassey, Nichole Hayes, Frances A. High, Anne V Hing, Fuki Marie Hisama, Ingrid A. Holm, Jason Hom, Martha J. Horike-Pyne, Alden Huang, Yong Huang, Rosario M. Isasi, Fariha Jamal, Gail Pairitz Jarvik, Jeffrey G. Jarvik, Suman Jayadev, Jean M. Johnston, Lefkothea P. Karaviti, Emily G. Kelley, J. Phillip Kennedy, Dana Kiley, Isaac S. Kohane, Jennefer N. Kohler, Deborah Krakow, Donna M. Krasnewich, Elijah Kravets, Susan Korrick, Mary E. Koziura, Joel B. Krier, Seema R. Lalani, Byron Lam, Christina T. Lam, Brendan C. Lanpher, Ian R. Lanza, C. Christopher Lau, Kimberly LeBlanc, Brendan Lee, Hane Lee, Roy C. Levitt, Richard Alan Lewis, Sharyn A. Lincoln, Pengfei Liu, Xue Zhong Liu, Nicola Longo, Sandra K. Loo, Joseph Loscalzo, Richard L. Maas, Ellen F. Macnamara, Calum A. MacRae, Valerie V. Braden Maduro, Marta M. Majcherska, May Christine V. Malicdan, Laura A. Mamounas, Teri A. Manolio, Rong Mao, Kenneth R. Maravilla, Thomas C. Markello, Ronit Marom, Gábor Marth, Beth A. Martin, Martín G. Martín, Julián A. Martínez-Agosto, Shruti Marwaha, Jacob L. McCauley, Allyn McConkie‐Rosell, Colleen E. McCormack, Alexa T. McCray, Elisabeth McGee, Heather C. Mefford, J. Lawrence Merritt, Matthew Might, Ghayda Mirzaa, Eva Morava‐Kozicz, Paolo M. Moretti, Marie Morimoto, John Joseph Mulvihill, David R. Murdock, Mariko Nakano‐Okuno, Avi Nath, Stan F. Nelson, John H. Newman, Sarah Kogan Nicholas, Deborah A. Nickerson, Donna Novacic, Devin Oglesbee, James Peter Orengo, Laura Pace, Stephen Pak, J. Carl Pallais, Christina G.S. Palmer, Jeanette C. Papp, Neil H. Parker, John A Phillips, Jennifer Ellen Posey, Lorraine Potocki, Barbara N. Pusey, Aaron R. Quinlan, Wendy H. Raskind, Archana Natarajan Raja, Genecee Renteria, Chloe M. Reuter, Lynette C. Rives, Amy K. Robertson, Lance H. Rodan, Jill A. Rosenfeld, Natalie L. Rosenwasser, Robb K. Rowley, Maura R. Z. Ruzhnikov, Ralph L. Sacco, Jacinda B. Sampson, Susan Leanne Samson, Mario Saporta, C. Ron Scott, Judy L. Schaechter, Timothy Schedl, Kelly Schoch, Daryl A. Scott, Prashant Sharma, Vandana Shashi, Jimann Shin, Rebecca H. Signer, Catherine H. Sillari, Edwin K. Silverman, Janet S. Sinsheimer, Kathy Sisco, Edward C. Smith, Kevin S. Smith, Emily P. Solem, Lilianna Solnica‐Krezel, Rebecca C. Spillmann, Joan Marilyn Stoler, Nicholas Stong, Jennifer A. Sullivan, Kathleen E. Sullivan, Angela Sun, Shirley C. Sutton, David A. Sweetser, Virginia P. Sybert, Holly K. Tabor, Cecelia P. Tamburro, Queenie K.‐G. Tan, Mustafa Tekin, Fred Telischi, Willa L. Thorson, Cynthia J. Tifft, Camilo Toro, Alyssa A. Tran, Brianna M. Tucker, Tiina K. Urv, Adeline L. Vanderver, Matt Velinder, Dave Viskochil, Tiphanie P. Vogel, Colleen E. Wahl, Stephanie E Wallace, Nicole M Walley, Chris A. Walsh, Melissa Walker, Jennifer Wambach, Jijun Wan, Lee-kai Wang, Michael F. Wangler, Patricia A. Ward, Daniel Wegner, Mark H. Wener, Tara Lynn Wenger, Katherine Wesseling Perry, Monte Westerfield, Matthew T. Wheeler, Jordan Whitlock, Lynne A. Wolfe, Jeremy D. Woods, Shinya Yamamoto, John Jeongseok Yang, Guoyun Yu, Diane B. Zastrow, Chunli Zhao, Stephan L. Zuchner, Bruce D. Gelb, Ingo Kurth, Maja Hempel, Kerstin Kutsche
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
Chiara Klöckner, Heinrich Sticht, Pia Zacher, Bernt Popp, Dewi P. Bakker, Katy E Barwick · Show all listed authors
Chiara Klöckner, Heinrich Sticht, Pia Zacher, Bernt Popp, Dewi P. Bakker, Katy E Barwick, Michaela Veronika Bonfert, Eva H. Brilstra, Wendy K. Chung, Angus John Clarke, Patrick W. Devine, Jennifer Friedman, Alyssa Gates, Gabriella Ana Horvath, Jennifer Keller‐Ramey, Boris Keren, Manju A. Kurian, Virgina Lee, Kathleen A. Leppig, Johan Lundgren, Marie McDonald, Amy McTague, Heather C. Mefford, Cyril Mignot, Mohamad A. Mikati, Caroline Nava, F. Lucy Raymond, Julian R. Sampson, Alba Sanchis-Juan, Vandana Shashi, Joseph T.C. Shieh, Marwan S. Shinawi, Anne Michele Slavotinek, Tommy Stödberg, Nicholas Stong, Jennifer A. Sullivan, Ashley C. Taylor, Tomi L. Toler, Marie-José van den Bogaard, Saskia N. van der Crabben, Koen L.I. van Gassen, Richard H. van Jaarsveld, Jessica Van Ziffle, Alexandrea F. Wadley, Matias Wagner, Saskia Brigitte Wortmann, Rikke Steensbjerre Møller, Johannes R. Lemke, Konrad Platzer
medRxiv · 2020
OpenAlex record Open-access version
2 citations
Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities
Alison M. Muir, Jennifer L. Cohen, Sarah E. Sheppard, Pavithran Guttipatti, Tsz Y. Lo, Natalie Weed · Show all listed authors
Alison M. Muir, Jennifer L. Cohen, Sarah E. Sheppard, Pavithran Guttipatti, Tsz Y. Lo, Natalie Weed, Dan Doherty, Danielle DeMarzo, Christina Ringmann Fagerberg, Lars Kjærsgaard, Martin J. Larsen, Patrick Rump, Katharina Löhner, Yoel Hirsch, David A. Zeevi, Elaine H. Zackai, Elizabeth J. K. Bhoj, Yuanquan Song, Heather C. Mefford
The American Journal of Human Genetics · 2020
OpenAlex record Open-access version
30 citations

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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.

FY2026 award records by amount

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

5U24NS120854-05U24Co-investigator
ClinGen Expert Curation Panel for the Epilepsies
Children's Hospital of Philadelphia · Pediatrics (investigator's affiliation)
$379.5K
award amount
5R21NS142525-02R21Contact PI
Investigating the role of RHOBTB2 in DEE to develop novel therapies
St. Jude Children's Research Hospital · Anatomy & Cell Biology (investigator's affiliation)
$231.3K
award amount

Award organizations

Organizations that administered FY2026 awards listing Heather C. Mefford as a PI.

Children's Hospital of Philadelphia

$379.5K

1 grant

St. Jude Children's Research Hospital

$231.3K

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 · FY2026

Award-linked funding history

Awards through the years

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FY2026 NIH portfolio memberships

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Publications

Publications

Researcher identity and coverage

FY2026 award records by amount

Award organizations

Coverage and award-record milestones

Shared-award investigators

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