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S

Seth Berger

george washington university

25H-index
116Paper Count
3.5KCitation Count
Published Papers 43
Publication Date
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A Stepwise Approach to Macrocephaly: Clinical Clues to the Rare Diagnosis of PTEN Hamartoma Tumor Syndrome
errPediatric Annals
IF1
err2026-04-01
err0
PREAI
errGupta, Nidhi A.; Shur, Natasha; Berger, Seth I.
errShare
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Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder
errGenetics in Medicine
IF6.2
err2026-02-01
err0
PREAI
errBereshneh, Ali H.; Wilson, Kirkland A.; Pan, Xueyang; Hannan, Shabab B.; Cooper, Megan A.; Diaz, Jullianne; Leon, Eyby; Moses, Tiana M.; Azamian, Mahshid S.; Scott, Daryl A.; Au, Ping Yee Billie; Appendino, Juan Pablo; Scheffer, Ingrid E.; Kaspi, Antony; Bahlo, Melanie; Hildebrand, Michael S.; Morgan, Angela T.; Ekure, Ekanem; Shulman, Joshua M.; Hildebrandt, Friedhelm; Posey, Jennifer E.; Kruszka, Paul; Vilain, Eric; Yamamoto, Shinya; Kanca, Oguz; Berger, Seth; Bellen, Hugo J.
errShare
errSave
Response to Spurdle et al
errGenetics in Medicine
IF6.2
err2026-01-06
err0
PREAI
errSeth I. Berger; Georgia Pitsava; Changrui Xiao; Emmanuèle C. Délot; Eric Vilain
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errSave
GREGoR: accelerating genomics for rare diseases
errNature
IF48.5
err2025-11-12
err0
PREAI
errMoez Dawood; Ben Heavner; Marsha M. Wheeler; Rachel A. Ungar; Jonathan LoTempio; Laurens Wiel; Seth Berger; Jonathan A. Bernstein; Jessica X. Chong; Emmanuèle C. Délot; Evan E. Eichler; James R. Lupski; Ali Shojaie; Michael E. Talkowski; Alex H. Wagner; Chia-Lin Wei; Christopher Wellington; Matthew T. Wheeler; Claudia M. B. Carvalho; Richard A. Gibbs; Casey A. Gifford; Susanne May; Danny E. Miller; Heidi L. Rehm; Kaitlin E. Samocha; Fritz J. Sedlazeck; Eric Vilain; Anne O’Donnell-Luria; Jennifer E. Posey; Lisa H. Chadwick; Michael J. Bamshad; Stephen B. Montgomery
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errSave
Large Class of Neurodevelopmental Disorders Requires Genome Sequencing for Diagnosis
errANNALS OF NEUROLOGY
IF7.7
err2025-11-01
err0
PREAI
errBerger, Seth I.; O'Donnell-Luria, Anne
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errSave
Genome sequencing reveals the impact of pseudoexons in rare genetic disease
errGenetics in Medicine
IF6.2
err2025-09-06
err0
errOAAI
errGeorgia Pitsava; Megan Hawley; Light Auriga; Ivan de Dios; Arthur Ko; Sofia Marmolejos; Miguel Almalvez; Ingrid Chen; Kaylee Scozzaro; Jianhua Zhao; Rebekah Barrick; Nicholas Ah Mew; Vincent A. Fusaro; Jonathan LoTempio; Matthew Taylor; Luisa Mestroni; Sharon Graw; Dianna Milewicz; Dongchuan Guo; David R. Murdock; Kinga M. Bujakowska; Changrui Xiao; Emmanuèle C. Délot; Seth I. Berger; Eric Vilain
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Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling
erramerican journal of human genetics
IF0
err2025-08-29
err0
errOAAI
errKimberly A. Chapman; Farid Ullah; Zachary A. Yahiku; Sheraz Khan; Sri Varsha Kodiparthi; Georgios Kellaris; Hazel G. White; Andrew T. Powell; Sandrina P. Correia; Tommy Stödberg; Christalena Sofocleous; Nikolaos M. Marinakis; Helena Fryssira; Eirini Tsoutsou; Jan Traeger-Synodinos; Andrea Accogli; Vittorio Sciruicchio; Vincenzo Salpietro; Pasquale Striano; Candace Muss; Boris Keren; Delphine Heron; Seth I. Berger; Kelvin W. Pond; Suman Sirimulla; Erica E. Davis; Martha R.C. Bhattacharya
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errSave
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases
errHuman Genetics and Genomics Advances
IF3.6
err2025-04-15
err0
errOAAI
errSarah L. Stenton; Kristen Laricchia; Nicole J. Lake; Sushma Chaluvadi; Vijay Ganesh; Stephanie DiTroia; Ikeoluwa Osei-Owusu; Lynn Pais; Emily O’Heir; Christina Austin-Tse; Melanie O’Leary; Mayada Abu Shanap; Chelsea Barrows; Seth Berger; Carsten G. Bönnemann; Kinga M. Bujakowska; Dean R. Campagna; Alison G. Compton; Sandra Donkervoort; Mark D. Fleming; Anne O’Donnell-Luria
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errSave
Improving Exome Sequencing for Neurodevelopmental Disorders
errJAMA NETWORK OPEN
IF9.7
err2025-03-25
err0
errOAAI
errBerger, Seth I.
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errSave
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2025-02-01
err1
PREAI
errNegi, Shloka; Stenton, Sarah L.; Berger, Seth I.; Canigiula, Paolo; Mcnulty, Brandy; Violich, Ivo; Gardner, Joshua; Hillaker, Todd; O'Rourke, Sara M.; O'Leary, Melanie C.; Carbonell, Elizabeth; Austin-Tse, Christina; Lemire, Gabrielle; Serrano, Jillian; Mangilog, Brian; Vannoy, Grace; Kolmogorov, Mikhail; Vilain, Eric; O'Donnell-Luria, Anne; Delot, Emmanuele; Miga, Karen H.; Monlong, Jean; Paten, Benedict
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errSave
Sequence variants in HECTD1 result in a variable neurodevelopmental disorder
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2025-01-01
err0
errOAAI
errZerafati-Jahromi, Gazelle; Oxman, Elias; Hoang, Hieu D.; Charng, Wu-Lin; Kotla, Tanvitha; Yuan, Weimin; Ishibashi, Keito; Sebaoui, Sonia; Luedtke, Kathryn; Winrow, Bryce; Ganetzky, Rebecca D.; Ruiz, Anna; Manso-Basuz, Carmen; Spataro, Nino; Kannu, Peter; Athey, Taryn; Peroutka, Christina; Barnes, Caitlin; Sidlow, Richard; Anadiotis, George; Magnussen, Kari; Valenzuela, Irene; Moles-Fernandez, Alejandro; Berger, Seth; Grant, Christina L.; Vilain, Eric; Arnadottir, Gudny A.; Sulem, Patrick; Sulem, Telma S.; Stefansson, Kari; Massey, Shavonne; Ginn, Natalie; Poduri, Annapurna; D'Gama, Alissa M.; Valentine, Rozalia; Trowbridge, Sara K.; Murali, Chaya N.; Franciskovich, Rachel; Tran, Yen; Webb, Bryn D.; Keppler-Noreuil, Kim M.; Hall, April L.; Mcgivern, Bobbi; Monaghan, Kristin G.; Sacoto, Maria J. Guillen; Baldridge, Dustin; Silverman, Gary A.; Dahiya, Sonika; Turner, Tychele N.; Schedl, Tim; Corbin, Joshua G.; Pak, Stephen C.; Zohn, Irene E.; Gurnett, Christina A.
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Considerations for reporting variants in novel candidate genes identified fi ed during clinical genomic testing
errGENETICS IN MEDICINE
IF6.2
err2024-10-01
err0
errOAAI
errChong, Jessica X.; Berger, Seth I.; Baxter, Samantha; Smith, Erica; Xiao, Changrui; Calame, Daniel G.; Hawley, Megan H.; Rivera-Munoz, E. Andres; DiTroia, Stephanie; Bamshad, Michael J.; Rehm, Heidi L.
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errSave
Multiscale mapping of transcriptomic signatures for cardiotoxic drugs
errNATURE COMMUNICATIONS
IF15.7
err2024-09-11
err0
errOAAI
errHansen, Jens; Xiong, Yuguang; Siddiq, Mustafa M.; Dhanan, Priyanka; Hu, Bin; Shewale, Bhavana; Yadaw, Arjun S.; Jayaraman, Gomathi; Tolentino, Rosa E.; Chen, Yibang; Martinez, Pedro; Beaumont, Kristin G.; Sebra, Robert; Vidovic, Dusica; Schuerer, Stephan C.; Goldfarb, Joseph; Gallo, James M.; Birtwistle, Marc R.; Sobie, Eric A.; Azeloglu, Evren U.; Berger, Seth I.; Chan, Angel; Schaniel, Christoph; Dubois, Nicole C.; Iyengar, Ravi
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errSave
Thiamine responsive MSUD due to splice altering variants: Confounding the genotype phenotype correlation
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-04-01
err0
PREAI
errBillington, Charles; MacLeod, Erin; Jacobson, Jenny; Simpson, Kara; Mew, Nicholas Ah.; Grant, Christina; Berger, Seth
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errSave
Secondary bone marrow graft loss after third-party virus-specific T cell infusion: Case report of a rare complication
errNATURE COMMUNICATIONS
IF15.7
err2024-03-29
err2
errOAAI
errKeller, Michael D.; Schattgen, Stefan A.; Chandrakasan, Shanmuganathan; Allen, E. Kaitlynn; Jensen-Wachspress, Mariah A.; Lazarski, Christopher A.; Qayed, Muna; Lang, Haili; Hanley, Patrick J.; Tanna, Jay; Pai, Sung-Yun; Parikh, Suhag; Berger, Seth I.; Gottschalk, Stephen; Pulsipher, Michael A.; Thomas, Paul G.; Bollard, Catherine M.
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errSave
Cation leak through the ATP1A3 pump causes spasticity and intellectual disability
errBRAIN
IF11.7
err2023-04-12
err5
errOAAI
errCalame, Daniel G.; Vadillo, Cristina Moreno; Berger, Seth; Lotze, Timothy; Shinawi, Marwan; Poupak, Javaher; Heller, Corina; Cohen, Julie; Person, Richard; Telegrafi, Aida; Phitsanuwong, Chalongchai; Fiala, Kaylene; Thiffault, Isabelle; Del Viso, Florencia; Zhou, Dihong; Fleming, Emily A.; Pastinen, Tomi; Fatemi, Ali; Thomas, Sruthi; Pascual, Samuel, I; Torres, Rosa J.; Prior, Carmen; Gomez-Gonzalez, Clara; Biskup, Saskia; Lupski, James R.; Maric, Dragan; Holmgren, Miguel; Regier, Debra; Yano, Sho T.
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errSave
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders
errBRAIN
IF11.7
err2023-02-09
err4
errOAAI
errSaffari, Afshin; Lau, Tracy; Tajsharghi, Homa; Karimiani, Ehsan Ghayoor; Kariminejad, Ariana; Efthymiou, Stephanie; Zifarelli, Giovanni; Sultan, Tipu; Toosi, Mehran Beiraghi; Sedighzadeh, Sahar; Siu, Victoria Mok; Dario Ortigoza-Escobar, Juan; AlShamsi, Aisha M.; Ibrahim, Shahnaz; Al-Sannaa, Nouriya Abbas; Al-Hertani, Walla; Sandra, Whalen; Tarnopolsky, Mark; Alavi, Shahryar; Li, Chumei; Day-Salvatore, Debra-Lynn; Jesus Martinez-Gonzalez, Maria; Levandoski, Kristin M.; Bedoukian, Emma; Madan-Khetarpal, Suneeta; Idleburg, Michaela J.; Menezes, Minal Juliet; Siddharth, Aishwarya; Platzer, Konrad; Oppermann, Henry; Smitka, Martin; Collins, Felicity; Lek, Monkol; Shahrooei, Mohmmad; Ghavideldarestani, Maryam; Herman, Isabella; Rendu, John; Faure, Julien; Baker, Janice; Bhambhani, Vikas; Calderwood, Laurel; Akhondian, Javad; Imannezhad, Shima; Mirzadeh, Hanieh Sadat; Hashemi, Narges; Doosti, Mohammad; Safi, Mojtaba; Ahangari, Najmeh; Torbati, Paria Najarzadeh; Abedini, Soheila; Salpietro, Vincenzo; Gulec, Elif Yilmaz; Eshaghian, Safieh; Ghazavi, Mohammadreza; Pascher, Michael T.; Vogel, Marina; Abicht, Angela; Moutton, Sebastien; Bruel, Ange-Line; Rieubland, Claudine; Gallati, Sabina; Strom, Tim M.; Lochmueller, Hanns; Mohammadi, Mohammad Hasan; Alvi, Javeria Raza; Zackai, Elaine H.; Keena, Beth A.; Skraban, Cara M.; Berger, Seth, I; Andrew, Erin H.; Rahimian, Elham; Morrow, Michelle M.; Wentzensen, Ingrid M.; Millan, Francisca; Henderson, Lindsay B.; Dafsari, Hormos Salimi; Jungbluth, Heinz; Gomez-Ospina, Natalia; McRae, Anne; Peter, Merlene; Veltra, Danai; Marinakis, Nikolaos M.; Sofocleous, Christalena; Ashrafzadeh, Farah; Pehlivan, Davut; Lemke, Johannes R.; Melki, Judith; Benezit, Audrey; Bauer, Peter; Weis, Denisa; Lupski, James R.; Senderek, Jan; Christodoulou, John; Chung, Wendy K.; Goodchild, Rose; Offiah, Amaka C.; Moreno-De-Luca, Andres; Suri, Mohnish; Ebrahimi-Fakhari, Darius; Houlden, Henry; Maroofian, Reza
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Fetal pharmacogenomics: A promising addition to complex neonatal care
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2022-09-01
err4
PREAI
errRaymond, Megan; Critchlow, Elizabeth; Rice, Stephanie M.; Wodoslawsky, Sascha; Berger, Seth I.; Hegde, Madhuri; Empey, Philip E.; Al-Kouatly, Huda B.
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errSave
Precocious Puberty in a Boy With Bilateral Leydig Cell Tumors due to a Somatic Gain-of-Function LHCGR Variant
errJOURNAL OF THE ENDOCRINE SOCIETY
IF3.1
err2022-08-12
err2
errOAAI
errFlippo, Chelsi; Kolli, Vipula; Andrew, Melissa; Berger, Seth; Bhatti, Tricia; Boyce, Alison M.; Casella, Daniel; Collins, Michael T.; Delot, Emmanuele; Devaney, Joseph; Hewitt, Stephen M.; Kolon, Thomas; Mallappa, Ashwini; White, Perrin C.; Merke, Deborah P.; Dauber, Andrew
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Genetic characteristics and prenatal phenotyping of RASopathy spectrum diagnosed by exome sequencing for nonimmune hydrops fetalis
errGENETICS IN MEDICINE
IF6.2
err2022-03-01
err0
errOAAI
errMakhamreh, Mona; Shivashankar, Kavya; Araji, Sarah; Berger, Seth; Al-Kouatly, Huda
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errSave

Research Directions

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Co-authors
Cooperation Journals
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H-index: 191 · Papers: 864
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H-index: 146 · Papers: 918
J
James R. Lupski
H-index: 144 · Papers: 1.1K
M
Mark A. Tarnopolsky
H-index: 129 · Papers: 889
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