Holly Dubbs - Publications, H-index & Citations

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Holly Dubbs

neurology

29H-index

69Paper Count

2.5KCitation Count

Published Papers 34

Publication Date

Clinical experience using trofinetide in Rett syndrome and related MECP2 diagnosis at the children’s hospital of Philadelphia post approval

Frontiers in Neurology

IF2.8

2026-04-23

OAAI

EO Erin O’Connor Prange; DF Dennis Fleysh; KR Keerthana Reddy; HD Holly Dubbs; ED Eric D. Marsh

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Genetic testing for familial epilepsies: Diagnostic yield and genetic findings

Epilepsia

IF6.6

2026-03-08

OAAI

Colin A. Ellis; Juliette Copeland; Isabella Velez; Karen L. Oliver; Hannah Shalaby; Aaron Baldwin; Caren Armstrong; Amanda Back; Brianna Berlin; Stacey Cohen; Vishnu Anand Cuddapah; Danielle deCampo; Holly Dubbs; Natalie Ginn; Alicia G. Harrison; Naomi Lewin; Laina Lusk; Eric D. Marsh; Shavonne L. Massey; Pamela Pojomovsky McDonnell; Jillian L. McKee; Xilma Ortiz-Gonzalez; Anna J. Prentice; Katie Rose Sullivan; Sarah M. Ruggiero; Mark P. Fitzgerald; Ethan M. Goldberg; Ingo Helbig

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Expanding the Early Childhood Manifestations of ITPR1 Heterozygous Variants Beyond Congenital Ataxia and Gillespie Syndrome

Neurology-Genetics

IF3.7

2026-02-01

PREAI

Terry, Lara E.; Dubbs, Holly; Markwalter, Kelly H.; Malik, Sundeep; Tintos-Hernandez, Jesus A.; Yule, David I.; Ortiz-Gonzalez, Xilma R.

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Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

Nature Genetics

IF29

2025-10-22

OAAI

Reza Asadollahi; Aisha Ahmad; Paranchai Boonsawat; Jasmine Shahanoor Hinzen; Mareike Lohse; Boris Bouazza-Arostegui; Siqi Sun; Tillmann Utesch; Jonas D. Sommer; Dragana Ilic; Murugesh Padmanarayana; Kati Fischermanns; Mrinalini Ranjan; Moritz Boll; Chandran Ka; Amélie Piton; Francesca Mattioli; Bertrand Isidor; Katrin Õunap; Karit Reinson; Monica H. Wojcik; Christian R. Marshall; Saadet Mercimek-Andrews; Naomichi Matsumoto; Noriko Miyake; Bruno de Oliveira Stephan; Rachel Sayuri Honjo; Debora R. Bertola; Chong Ae Kim; Roman Yusupov; Heather C. Mefford; John Christodoulou; Joy Lee; Oliver Heath; Natasha J. Brown; Naomi Baker; Zornitza Stark; Martin Delatycki; Nicole J. Lake; Shimriet Zeidler; Linda Zuurbier; Saskia M. Maas; Chris C. de Kruiff; Farrah Rajabi; Lance H. Rodan; Stephanie A. Coury; Konrad Platzer; Henry Oppermann; Rami Abou Jamra; Skadi Beblo; Caroline Maxton; Robert Śmigiel; Hunter Underhill; Holly Dubbs; Alyssa Rosen; Katherine L. Helbig; Ingo Helbig; Sarah McKeown Ruggiero; Mark P. Fitzgerald; Dennis Kraemer; Carlos E. Prada; Jeffrey Tenney; Parul Jayakar; Sylvia Redon; Jérémie Lefranc; Kevin Uguen; Simone Race; Stephanie Efthymiou; Reza Maroofian; Henry Houlden; Sandra Coppens; Nicolas Deconinck; Balasubramaniem Ashokkumar; Perumal Varalakshmi; Vykunta Raju Gowda K; Fatemeh Eghbal; Ehsan Ghayoor Karimiani; Morteza Heidari; John Neidhardt; Marta Owczarek-Lipska; G. Christoph Korenke; Michael J. Bamshad; Philippe M. Campeau; Anna Lehman; Laura G. Hendon; Ingrid M. Wentzensen; Kristin G. Monaghan; Yanmin Chen; Anna Szuto; Ronald D. Cohn; Ping Yee Billie Au; Christoph Hübner; Felix Boschann; Kandamurugu Manickam; Daniel C. Koboldt; Aboulfazl Rad; Gabriela Oprea; Kristine K. Bachman; Andrea H. Seeley; Emanuele Agolini; Alessandra Terracciano; Piscopo Carmelo; Caleb Bupp; Bethany Grysko; Annick Rein-Rothschild; Bruria Ben Zeev; Amy Margolin; Jennifer Morrison; Aditi Dagli; Elliot Stolerman; Raymond J. Louie; Camerun Washington; Servi J. C. Stevens; Malou Heijligers; Fowzan S. Alkuraya; Jasmin Lisfeld; Axel Neu; Fabíola Paoli Monteiro; André Luiz Santos Pessoa; Antonio Edvan Camelo-Filho; Fernando Kok; Dwight Koeberl; Kacie Riley; Lydie Burglen; Diane Doummar; Bénédicte Héron; Cyril Mignot; Boris Keren; Perrine Charles; Caroline Nava; Felix P. Bernhard; Andrea A. Kühn; Sven Thoms; Ryan D. Morrie; Shila Mekhoubad; Eric M. Green; Sami J. Barmada; Aaron D. Gitler; Olaf Jahn; Jeong Seop Rhee; Christian Rosenmund; Mišo Mitkovski; Heinrich Sticht; Han Sun; Gerald Le Gac; Holger Taschenberger; Nils Brose; Jeremy S. Dittman; Anita Rauch; Noa Lipstein

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Functional ability profiles in beta-propeller protein-associated neurodegeneration (BPAN)

Molecular Genetics and Metabolism

IF3.5

2025-10-06

OAAI

Francesco Gavazzi; Samuel R. Pierce; Vanessa Smith; Eric Yang; Julie Skorup; Kristy Pucci; Emma Kotes; Allan M. Glanzman; Stacy V. Cusack; Todd Levy; Holly Dubbs; Emma Wiener; Sarah Woidill; Joseph Vithayathil; Abbas Jawad; Nivedita Thakur; Laura A. Adang

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The genetic and phenotypic spectrum of GABRB1-related disorders

Brain

IF11.7

2025-06-05

OAAI

Charissa Millevert; Anthony Sze Hon Kan; Moritz Hanke; Mahmoud Koko; Maryam Erfanian Omidvar; Ulrike B S Hedrich; Thomas V Wuttke; Nina Barišić; Lieven Lagae; Ángel Aledo-Serrano; Eva-Maria Niehoff; Konrad Platzer; Pia Zacher; Tilman Polster; Robertino Dilena; Edoardo Monfrini; David Geneviève; Agathe Roubertie; Ange-Line Bruel; Frederic Tran Mau-Them; Majed Dasouki; Stacey Cohen; Ingo Helbig; Alicia G Harrison; Collin Ellis; Holly A Dubbs; Eric D Marsh; Sébastien Lebon; Na He; Heng Meng; Mary Chebib; Rikke S Møller; Carla Marini; Philip K Ahring; Holger Lerche; Sarah Weckhuysen

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16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of ANKRD11 Cause KBG Syndrome

GENES

IF2.8

2025-01-24

OAAI

Iwata-Otsubo, Aiko; Rippert, Alyssa L.; Balciuniene, Jorune; Fiordaliso, Sarah K.; Chen, Robert; Markose, Preetha; Skraban, Cara M.; Gray, Christopher; Zackai, Elaine H.; Dubbs, Holly A.; Deardorff, Matthew A.; Conlin, Laura K.; Izumi, Kosuke

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A Case of INPP5E-Related Joubert Syndrome: Connecting Evolving Phenotype With Novel Genotype

PEDIATRIC NEUROLOGY

IF2.1

2023-08-01

PREAI

Kumar, Nankee; Nomakuchi, Tomoki; Vossough, Arastoo; Leonard, Jacqueline M. M.; Dubbs, Holly; Agarwal, Sonika

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Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

GENETICS IN MEDICINE

IF6.2

2022-11-01

OAAI

Kayumi, Sayaka; Perez-Jurado, Luis A.; Palomares, Maria; Rangu, Sneha; Sheppard, Sarah E.; Chung, Wendy K.; Kruer, Michael C.; Kharbanda, Mira; Amor, David J.; McGillivray, George; Cohen, Julie S.; Garcia-Minaur, Sixto; van Eyk, Clare L.; Harper, Kelly; Jolly, Lachlan A.; Webber, Dani L.; Barnett, Christopher P.; Santos-Simarro, Fernando; Pacio-Miguez, Marta; del Pozo, Angela; Bakhtiari, Somayeh; Deardorff, Matthew; Dubbs, Holly A.; Izumi, Kosuke; Grand, Katheryn; Gray, Christopher; Mark, Paul R.; Bhoj, Elizabeth J.; Li, Dong; Ortiz-Gonzalez, Xilma R.; Keena, Beth; Zackai, Elaine H.; Goldberg, Ethan M.; de Nanclares, Guiomar Perez; Pereda, Arrate; Llano-Rivas, Isabel; Arroyo, Ignacio; Fernandez-Cuesta, Maria Angeles; Thauvin-Robinet, Christel; Faivre, Laurence; Garde, Aurore; Mazel, Benoit; Bruel, Ange-Line; Tress, Michael L.; Brilstra, Eva; Fine, Amena Smith; Crompton, Kylie E.; Stegmann, Alexander P. A.; Sinnema, Margje; Stevens, Servi C. J.; Nicolai, Joost; Lesca, Gaetan; Lion-Francois, Laurence; Haye, Damien; Chatron, Nicolas; Piton, Amelie; Nizon, Mathilde; Cogne, Benjamin; Srivastava, Siddharth; Bassetti, Jennifer; Muss, Candace; Gripp, Karen W.; Procopio, Rebecca A.; Millan, Francisca; Morrow, Michelle M.; Assaf, Melissa; Moreno-De-Luca, Andres; Joss, Shelagh; Hamilton, Mark J.; Bertoli, Marta; Foulds, Nicola; McKee, Shane; MacLennan, Alastair H.; Gecz, Jozef; Corbett, Mark A.

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ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy

BRAIN

IF11.7

2022-09-08

OAAI

Mattison, Kari A.; Tossing, Gilles; Mulroe, Fred; Simmons, Callum; Butler, Kameryn M.; Schreiber, Alison; Alsadah, Adnan; Neilson, Derek E.; Naess, Karin; Wedell, Anna; Wredenberg, Anna; Sorlin, Arthur; McCann, Emma; Burghel, George J.; Menendez, Beatriz; Hoganson, George E.; Botto, Lorenzo D.; Filloux, Francis M.; Aledo-Serrano, Angel; Gil-Nagel, Antonio; Tatton-Brown, Katrina; Verbeek, Nienke E.; van der Zwaag, Bert; Aleck, Kyrieckos A.; Fazenbaker, Andrew C.; Balciuniene, Jorune; Dubbs, Holly A.; Marsh, Eric D.; Garber, Kathryn; Ek, Jakob; Duno, Morten; Hoei-Hansen, Christina E.; Deardorff, Matthew A.; Raca, Gordana; Quindipan, Catherine; van Hirtum-Das, Michele; Breckpot, Jeroen; Hammer, Trine Bjorg; Moller, Rikke S.; Whitney, Andrea; Douglas, Andrew G. L.; Kharbanda, Mira; Brunetti-Pierri, Nicola; Morleo, Manuela; Nigro, Vincenzo; May, Halie J.; Tao, James X.; Argilli, Emanuela; Sherr, Elliot H.; Dobyns, William B.; Baines, Richard A.; Warwicker, Jim; Parker, J. Alex; Banka, Siddharth; Campeau, Philippe M.; Escayg, Andrew

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Psychometric outcome measures in beta-propeller protein-associated

MOLECULAR GENETICS AND METABOLISM

IF3.5

2022-09-01

OAAI

Gavazzi, Francesco; Pierce, Samuel R.; Vithayathil, Joseph; Cunningham, Kristin; Anderson, Kim; McCann, Jacob; Moll, Ashley; Muirhead, Kayla; Sherbini, Omar; Prange, Erin; Dubbs, Holly; Tochen, Laura; Fraser, Jamie; Helbig, Ingo; Lewin, Naomi; Thakur, Nivedita; Adang, Laura A.

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Familial MECP2 variants: a report of 4 affected families highlighting the variable phenotypic spectrum and implications for genetic counseling

GENETICS IN MEDICINE

IF6.2

2022-03-01

OAAI

Dubbs, Holly; Marsh, Eric; Prange, Erin O'Connor

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Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome

PEDIATRIC NEUROLOGY

IF2.1

2022-01-01

OAAI

Steele, Jacqueline L.; Morrow, Michelle M.; Sarnat, Harvey B.; Alkhunaizi, Ebba; Brandt, Tracy; Chitayat, David A.; DeFilippo, Colette P.; V. Douglas, Ganka; Dubbs, Holly A.; Elloumi, Houda Zghal; Glassford, Megan R.; Hannibal, Mark C.; Heron, Benedicte; Kim, Linda E.; Marco, Elysa J.; Mignot, Cyril; Monaghan, Kristin G.; Myers, Kenneth A.; Parikh, Sumit; Quinonez, Shane C.; Rajabi, Farrah; Shankar, Suma P.; Shinawi, Marwan S.; van de Kamp, Jiddeke J. P.; Veerapandiyan, Aravindhan; Waldman, Amy T.; Graf, William D.

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NEUROLOGY-GENETICS

IF3.7

2021-12-01

OAAI

Johannesen, Katrine M.; Gardella, Elena; Gjerulfsen, Cathrine E.; Bayat, Allan; Rouhl, Rob P. W.; Reijnders, Margot; Whalen, Sandra; Keren, Boris; Buratti, Julien; Courtin, Thomas; Wierenga, Klaas J.; Isidor, Bertrand; Piton, Amelie; Faivre, Laurence; Garde, Aurore; Moutton, Sebastien; Tran-Mau-Them, Frederic; Denomme-Pichon, Anne-Sophie; Coubes, Christine; Larson, Austin; Esser, Michael J.; Appendino, Juan Pablo; Al-Hertani, Walla; Gamboni, Beatriz; Mampel, Alejandra; Mayorga, Lia; Orsini, Alessandro; Bonuccelli, Alice; Suppiej, Agnese; Van-Gils, Julien; Vogt, Julie; Damioli, Simona; Giordano, Lucio; Moortgat, Stephanie; Wirrell, Elaine; Hicks, Sarah; Kini, Usha; Noble, Nathan; Stewart, Helen; Asakar, Shailesh; Cohen, Julie S.; Naidu, SakkuBai R.; Collier, Ashley; Brilstra, Eva H.; Li, Mindy H.; Brew, Casey; Bigoni, Stefania; Ognibene, Davide; Ballardini, Elisa; Ruivenkamp, Claudia; Faggioli, Raffaella; Afenjar, Alexandra; Rodriguez, Diana; Bick, David; Segal, Devorah; Coman, David; Gunning, Boudewijn; Devinsky, Orrin; Demmer, Laurie A.; Grebe, Theresa; Pruna, Dario; Cursio, Ida; Greenhalgh, Lynn; Graziano, Claudio; Singh, Rahul Raman; Cantalupo, Gaetano; Willems, Marjolaine; Yoganathan, Sangeetha; Goes, Fernanda; Leventer, Richard J.; Colavito, Davide; Olivotto, Sara; Scelsa, Barbara; Andrade, Andrea V.; Ratke, Kelly; Tokarz, Farha; Khan, Atiya S.; Ormieres, Clothilde; Benko, William; Keough, Karen; Keros, Sotirios; Hussain, Shanawaz; Franques, Ashlea; Varsalone, Felicia; Gronborg, Sabine; Mignot, Cyril; Heron, Delphine; Nava, Caroline; Isapof, Arnaud; Borlot, Felippe; Whitney, Robyn; Ronan, Anne; Foulds, Nicola; Somorai, Marta; Brandsema, John; Helbig, Katherine L.; Helbig, Ingo; Ortiz-Gonzalez, Xilma R.; Dubbs, Holly; Vitobello, Antonio; Anderson, Mel; Spadafore, Dominic; Hunt, David; Moller, Rikke S.; Rubboli, Guido

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Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia

GENETICS IN MEDICINE

IF6.2

2021-05-01

OAAI

Muir, Alison M.; Gardner, Jennifer F.; van Jaarsveld, Richard H.; de Lange, Iris M.; van der Smagt, Jasper J.; Wilson, Golder N.; Dubbs, Holly; Goldberg, Ethan M.; Zitano, Lia; Bupp, Caleb; Martinez, Jose; Srour, Myriam; Accogli, Andrea; Alhakeem, Afnan; Meltzer, Meira; Gropman, Andrea; Brewer, Carole; Caswell, Richard C.; Montgomery, Tara; McKenna, Caoimhe; McKee, Shane; Powell, Corinna; Vasudevan, Pradeep C.; Brady, Angela F.; Joss, Shelagh; Tysoe, Carolyn; Noh, Grace; Tarnopolsky, Mark; Brady, Lauren; Zafar, Muhammad; Schrier Vergano, Samantha A.; Murray, Brianna; Sawyer, Lindsey; Hainline, Bryan E.; Sapp, Katherine; DeMarzo, Danielle; Huismann, Darcy J.; Wentzensen, Ingrid M.; Schnur, Rhonda E.; Monaghan, Kristin G.; Juusola, Jane; Rhodes, Lindsay; Dobyns, William B.; Lecoquierre, Francois; Goldenberg, Alice; Polster, Tilman; Axer-Schaefer, Susanne; Platzer, Konrad; Klockner, Chiara; Hoffman, Trevor L.; MacArthur, Daniel G.; O'Leary, Melanie C.; VanNoy, Grace E.; England, Eleina; Varghese, Vinod C.; Mefford, Heather C.

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Late-Onset Aicardi-Goutieres Syndrome: A Characterization of Presenting Clinical Features

PEDIATRIC NEUROLOGY

IF2.1

2021-02-01

OAAI

Piccoli, Cara; Bronner, Nowa; Gavazzi, Francesco; Dubbs, Holly; De Simone, Micaela; De Giorgis, Valentina; Orcesi, Simona; Fazzi, Elisa; Galli, Jessica; Masnada, Silvia; Tonduti, Davide; Varesio, Costanza; Vanderver, Adeline; Vossough, Arastoo; Adang, Laura

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Phenotypic and Imaging Spectrum Associated With WDR45

PEDIATRIC NEUROLOGY

IF2.1

2020-08-01

OAAI

Adang, Laura A.; Pizzino, Amy; Malhotra, Alka; Dubbs, Holly; Williams, Catherine; Sherbini, Omar; Anttonen, Anna-Kaisa; Lesca, Gaetan; Linnankivi, Tarja; Laurencin, Chloe; Milh, Matthieu; Perrine, Charles; Schaaf, Christian P.; Poulat, Anne-Lise; Ville, Dorothee; Hagelstrom, Tanner; Perry, Denise L.; Taft, Ryan J.; Goldstein, Amy; Vossough, Arastoo; Helbig, Ingo; Vanderver, Adeline

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Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders

ANNALS OF NEUROLOGY

IF7.7

2020-06-09

OAAI

Vanderver, Adeline; Bernard, Genevieve; Helman, Guy; Sherbini, Omar; Boeck, Ryan; Cohn, Jeffrey; Collins, Abigail; Demarest, Scott; Dobbins, Katherine; Emrick, Lisa; Fraser, Jamie; Masser-Frye, Diane; Hayward, Jean; Karmarkar, Swati; Keller, Stephanie; Mirrop, Samuel; Mitchell, Wendy; Pathak, Sheel; Sherr, Elliott; van Haren, Keith; Waters, Erica; Wilson, Jenny L.; Zhorne, Leah; Schiffmann, Raphael; van der Knaap, Marjo S.; Pizzino, Amy; Dubbs, Holly; Shults, Justine; Simons, Cas; Taft, Ryan J.

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A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2020-06-01

OAAI

Drivas, Theodore G.; Li, Dong; Nair, Divya; Alaimo, Joseph T.; Alders, Marielle; Altmueller, Janine; Barakat, Tahsin Stefan; Bebin, E. Martina; Bertsch, Nicole L.; Blackburn, Patrick R.; Blesson, Alyssa; Bouman, Arjan M.; Brockmann, Knut; Brunelle, Perrine; Burmeister, Margit; Cooper, Gregory M.; Denecke, Jonas; Dieux-Coeslier, Anne; Dubbs, Holly; Ferrer, Alejandro; Gal, Danna; Bartik, Lauren E.; Gunderson, Lauren B.; Hasadsri, Linda; Jain, Mahim; Karimov, Catherine; Keena, Beth; Klee, Eric W.; Kloth, Katja; Lace, Baiba; Macchiaiolo, Marina; Marcadier, Julien L.; Milunsky, Jeff M.; Napier, Melanie P.; Ortiz-Gonzalez, Xilma R.; Pichurin, Pavel N.; Pinner, Jason; Powis, Zoe; Prasad, Chitra; Radio, Francesca Clementina; Rasmussen, Kristen J.; Renaud, Deborah L.; Rush, Eric T.; Saunders, Carol; Selcen, Duygu; Seman, Ann R.; Shinde, Deepali N.; Smith, Erica D.; Smol, Thomas; Blok, Lot Snijders; Stoler, Joan M.; Tang, Sha; Tartaglia, Marco; Thompson, Michelle L.; van de Kamp, Jiddeke M.; Wang, Jingmin; Weise, Dagmar; Weiss, Karin; Woitschach, Rixa; Wollnik, Bernd; Yan, Huifang; Zackai, Elaine H.; Zampino, Giuseppe; Campeau, Philippe; Bhoj, Elizabeth

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GENETICS IN MEDICINE

IF6.2

2020-03-01

OAAI

Weiss, Karin; Lazar, Hayley P.; Kurolap, Alina; Martinez, Ariel F.; Paperna, Tamar; Cohen, Lior; Smeland, Marie F.; Whalen, Sandra; Heide, Solveig; Keren, Boris; Terhal, Pauline; Irving, Melita; Takaku, Motoki; Roberts, John D.; Petrovich, Robert M.; Vergano, Samantha A. Schrier; Kenney, Amy; Hove, Hanne; DeChene, Elizabeth; Quinonez, Shane C.; Colin, Estelle; Ziegler, Alban; Rumple, Melissa; Jain, Mahim; Monteil, Danielle; Roeder, Elizabeth R.; Nugent, Kimberly; van Haeringen, Arie; Gambello, Michael; Santani, Avni; Medne, Livija; Krock, Bryan; Skraban, Cara M.; Zackai, Elaine H.; Dubbs, Holly A.; Smol, Thomas; Ghoumid, Jamal; Parker, Michael J.; Wright, Michael; Turnpenny, Peter; Clayton-Smith, Jill; Metcalfe, Kay; Kurumizaka, Hitoshi; Gelb, Bruce D.; Feldman, Hagit Baris; Campeau, Philippe M.; Muenke, Maximilian; Wade, Paul A.; Lachlan, Katherine

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Research Directions