Harvard Catalyst Profiles

Contact, publication, and social network information about Harvard faculty and fellows.

David Alan Sweetser, M.D.,Ph.D.

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The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
  1. U01HG007690 (Loscalzo) Jun 30, 2014 - Jun 29, 2022
    Center for Integrated Approached to Undiagnosed Diseases
    Role Description: In this project cutting edge research and clinical diagnostic tools will be applied combining the scientific and medical expertise and resources at the NIH and 10 clinical sites of the Undiagnosed Diseases Network to provide answers to patients with mysterious conditions that have long eluded diagnosis, and to advance medical knowledge about rare and common diseases
    Role: Sub-PI

Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Lino Cardenas CL, Briere LC, Sweetser DA, Lindsay ME, Musolino PL. A seed sequence variant in miR-145-5p causes multisystem smooth muscle dysfunction syndrome. J Clin Invest. 2023 Mar 01; 133(5). PMID: 36649075; PMCID: PMC9974090.
    Citations:    Fields:    Translation:Cells
  2. Folkerts EK, Pelletier REC, Chung DC, Goldstein SA, Micalizzi DS, Shannon KM, Sweetser DA, Wong EK, Rehm HL, Hull LE. A Pooled Electronic Consultation Program to Improve Access to Genetics Specialists. medRxiv. 2023 Feb 10. PMID: 36798390; PMCID: PMC9934799.
  3. Jangam S, Briere LC, Jay K, Andrews JC, Walker MA, Rodan LH, High FA, Yamamoto S, Sweetser DA, Wangler M. A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster. medRxiv. 2023 Feb 03. PMID: 36778246; PMCID: PMC9915809.
  4. Huang Y, Lemire G, Briere LC, Liu F, Wessels MW, Wang X, Osmond M, Kanca O, Lu S, High FA, Walker MA, Rodan LH, Wangler MF, Yamamoto S, Kernohan KD, Sweetser DA, Boycott KM, Bellen HJ. The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability. Am J Hum Genet. 2022 Nov 03; 109(11):2092. PMID: 36332614; PMCID: PMC9674957.
    Citations:    Fields:    
  5. Huang Y, Lemire G, Briere LC, Liu F, Wessels MW, Wang X, Osmond M, Kanca O, Lu S, High FA, Walker MA, Rodan LH, Kernohan KD, Sweetser DA, Boycott KM, Bellen HJ. The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability. Am J Hum Genet. 2022 10 06; 109(10):1923-1931. PMID: 36067766; PMCID: PMC9606386.
    Citations:    Fields:    Translation:HumansAnimals
  6. Kozycki CT, Kodati S, Huryn L, Wang H, Warner BM, Jani P, Hammoud D, Abu-Asab MS, Jittayasothorn Y, Mattapallil MJ, Tsai WL, Ullah E, Zhou P, Tian X, Soldatos A, Moutsopoulos N, Kao-Hsieh M, Heller T, Cowen EW, Lee CR, Toro C, Kalsi S, Khavandgar Z, Baer A, Beach M, Long Priel D, Nehrebecky M, Rosenzweig S, Romeo T, Deuitch N, Brenchley L, Pelayo E, Zein W, Sen N, Yang AH, Farley G, Sweetser DA, Briere L, Yang J, de Oliveira Poswar F, Schwartz IVD, Silva Alves T, Dusser P, Koné-Paut I, Touitou I, Titah SM, van Hagen PM, van Wijck RTA, van der Spek PJ, Yano H, Benneche A, Apalset EM, Jansson RW, Caspi RR, Kuhns DB, Gadina M, Takada H, Ida H, Nishikomori R, Verrecchia E, Sangiorgi E, Manna R, Brooks BP, Sobrin L, Hufnagel RB, Beck D, Shao F, Ombrello AK, Aksentijevich I, Kastner DL. Gain-of-function mutations in ALPK1 cause an NF-?B-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome. Ann Rheum Dis. 2022 10; 81(10):1453-1464. PMID: 35868845; PMCID: PMC9484401.
    Citations:    Fields:    Translation:HumansAnimals
  7. Ganapathi M, Friocourt G, Gueguen N, Friederich MW, Le Gac G, Okur V, Loaëc N, Ludwig T, Ka C, Tanji K, Marcorelles P, Theodorou E, Lignelli-Dipple A, Voisset C, Walker MA, Briere LC, Bourhis A, Blondel M, LeDuc C, Hagen J, Cooper C, Muraresku C, Ferec C, Garenne A, Lelez-Soquet S, Rogers CA, Shen Y, Strode DK, Bizargity P, Iglesias A, Goldstein A, High FA, Network UD, Sweetser DA, Ganetzky R, Van Hove JLK, Procaccio V, Le Marechal C, Chung WK. A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families. J Inherit Metab Dis. 2022 09; 45(5):996-1012. PMID: 35621276; PMCID: PMC9474623.
    Citations:    Fields:    Translation:HumansCells
  8. O'Grady L, Schrier Vergano SA, Hoffman TL, Sarco D, Cherny S, Bryant E, Schultz-Rogers L, Chung WK, Sacharow S, Immken LL, Holder S, Blackwell RR, Buchanan C, Yusupov R, Lecoquierre F, Guerrot AM, Rodan L, de Vries BBA, Kamsteeg EJ, Santos Simarro F, Palomares-Bralo M, Brown N, Pais L, Ferrer A, Klee EW, Babovic-Vuksanovic D, Rhodes L, Person R, Begtrup A, Keller-Ramey J, Santiago-Sim T, Schnur RE, Sweetser DA, Gold NB. Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders. Am J Med Genet A. 2022 09; 188(9):2750-2759. PMID: 35543142.
    Citations:    Fields:    Translation:Humans
  9. Shin TH, Theodorou E, Holland C, Yamin R, Raggio CL, Giampietro PF, Sweetser DA. TLE4 Is a Critical Mediator of Osteoblast and Runx2-Dependent Bone Development. Front Cell Dev Biol. 2021; 9:671029. PMID: 34422801.
    Citations: 3     
  10. Briere LC, Walker MA, High FA, Cooper C, Rogers CA, Callahan CJ, Ishimura R, Ichimura Y, Caruso PA, Sharma N, Brokamp E, Koziura ME, Mohammad SS, Dale RC, Riley LG, Phillips JA, Komatsu M, Sweetser DA. A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy. Cold Spring Harb Mol Case Stud. 2021 06; 7(3). PMID: 33811063.
    Citations:    Fields:    Translation:HumansCells
  11. Neuser S, Brechmann B, Heimer G, Brösse I, Schubert S, O'Grady L, Zech M, Srivastava S, Sweetser DA, Dincer Y, Mall V, Winkelmann J, Behrends C, Darras BT, Graham RJ, Jayakar P, Byrne B, Bar-Aluma BE, Haberman Y, Szeinberg A, Aldhalaan HM, Hashem M, Al Tenaiji A, Ismayl O, Al Nuaimi AE, Maher K, Ibrahim S, Khan F, Houlden H, Ramakumaran VS, Pagnamenta AT, Posey JE, Lupski JR, Tan WH, ElGhazali G, Herman I, Muñoz T, Repetto GM, Seitz A, Krumbiegel M, Poli MC, Kini U, Efthymiou S, Meiler J, Maroofian R, Alkuraya FS, Abou Jamra R, Popp B, Ben-Zeev B, Ebrahimi-Fakhari D. Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability. Hum Mutat. 2021 06; 42(6):762-776. PMID: 33847017.
    Citations: 8     Fields:    Translation:HumansCells
  12. Rossetti LZ, Bekheirnia MR, Lewis AM, Mefford HC, Golden-Grant K, Tarczy-Hornoch K, Briere LC, Sweetser DA, Walker MA, Kravets E, Stevenson DA, Bruenner G, Sebastian J, Knapo J, Rosenfeld JA, Marcogliese PC, Wangler MF. Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotype. Mol Genet Genomic Med. 2021 01; 9(1):e1542. PMID: 33350591.
    Citations: 7     Fields:    Translation:Humans
  13. Stergachis AB, Mogensen KM, Khoury CC, Lin AP, Peake RW, Baker JJ, Barkoudah E, Sahai I, Sweetser DA, Berry GT, Krier JB. A retrospective study of adult patients with noncirrhotic hyperammonemia. J Inherit Metab Dis. 2020 11; 43(6):1165-1172. PMID: 32713002.
    Citations: 4     Fields:    Translation:Humans
  14. Guillen Sacoto MJ, Tchasovnikarova IA, Torti E, Forster C, Andrew EH, Anselm I, Baranano KW, Briere LC, Cohen JS, Craigen WJ, Cytrynbaum C, Ekhilevitch N, Elrick MJ, Fatemi A, Fraser JL, Gallagher RC, Guerin A, Haynes D, High FA, Inglese CN, Kiss C, Koenig MK, Krier J, Lindstrom K, Marble M, Meddaugh H, Moran ES, Morel CF, Mu W, Muller EA, Nance J, Natowicz MR, Numis AL, Ostrem B, Pappas J, Stafstrom CE, Streff H, Sweetser DA, Szybowska M, Walker MA, Wang W, Weiss K, Weksberg R, Wheeler PG, Yoon G, Kingston RE, Juusola J. De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism. Am J Hum Genet. 2020 08 06; 107(2):352-363. PMID: 32693025.
    Citations: 32     Fields:    Translation:Humans
  15. Dutta D, Briere LC, Kanca O, Marcogliese PC, Walker MA, High FA, Vanderver A, Krier J, Carmichael N, Callahan C, Taft RJ, Simons C, Helman G, Network UD, Wangler MF, Yamamoto S, Sweetser DA, Bellen HJ. De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment. Hum Mol Genet. 2020 06 03; 29(9):1568-1579. PMID: 32356556; PMCID: PMC7268787.
    Citations: 16     Fields:    Translation:HumansCells
  16. Castilla-Vallmanya L, Selmer KK, Dimartino C, Rabionet R, Blanco-Sánchez B, Yang S, Reijnders MRF, van Essen AJ, Oufadem M, Vigeland MD, Stadheim B, Houge G, Cox H, Kingston H, Clayton-Smith J, Innis JW, Iascone M, Cereda A, Gabbiadini S, Chung WK, Sanders V, Charrow J, Bryant E, Millichap J, Vitobello A, Thauvin C, Mau-Them FT, Faivre L, Lesca G, Labalme A, Rougeot C, Chatron N, Sanlaville D, Christensen KM, Kirby A, Lewandowski R, Gannaway R, Aly M, Lehman A, Clarke L, Graul-Neumann L, Zweier C, Lessel D, Lozic B, Aukrust I, Peretz R, Stratton R, Smol T, Dieux-Coëslier A, Meira J, Wohler E, Sobreira N, Beaver EM, Heeley J, Briere LC, High FA, Sweetser DA, Walker MA, Keegan CE, Jayakar P, Shinawi M, Kerstjens-Frederikse WS, Earl DL, Siu VM, Reesor E, Yao T, Hegele RA, Vaske OM, Rego S, Shapiro KA, Wong B, Gambello MJ, McDonald M, Karlowicz D, Colombo R, Serretti A, Pais L, O'Donnell-Luria A, Wray A, Sadedin S, Chong B, Tan TY, Christodoulou J, White SM, Slavotinek A, Barbouth D, Morel Swols D, Parisot M, Bole-Feysot C, Nitschké P, Pingault V, Munnich A, Cho MT, Cormier-Daire V, Balcells S, Lyonnet S, Grinberg D, Amiel J, Urreizti R, Gordon CT. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. Genet Med. 2020 07; 22(7):1215-1226. PMID: 32376980; PMCID: PMC8093014.
    Citations: 7     Fields:    Translation:HumansCells
  17. Lee S, Micalizzi D, Truesdell SS, Bukhari SIA, Boukhali M, Lombardi-Story J, Kato Y, Choo MK, Dey-Guha I, Ji F, Nicholson BT, Myers DT, Lee D, Mazzola MA, Raheja R, Langenbucher A, Haradhvala NJ, Lawrence MS, Gandhi R, Tiedje C, Diaz-Muñoz MD, Sweetser DA, Sadreyev R, Sykes D, Haas W, Haber DA, Maheswaran S, Vasudevan S. A post-transcriptional program of chemoresistance by AU-rich elements and TTP in quiescent leukemic cells. Genome Biol. 2020 02 10; 21(1):33. PMID: 32039742; PMCID: PMC7011231.
    Citations: 12     Fields:    Translation:HumansAnimalsCells
  18. Krzyzewska IM, Maas SM, Henneman P, Lip KVD, Venema A, Baranano K, Chassevent A, Aref-Eshghi E, van Essen AJ, Fukuda T, Ikeda H, Jacquemont M, Kim HG, Labalme A, Lewis SME, Lesca G, Madrigal I, Mahida S, Matsumoto N, Rabionet R, Rajcan-Separovic E, Qiao Y, Sadikovic B, Saitsu H, Sweetser DA, Alders M, Mannens MMAM. A genome-wide DNA methylation signature for SETD1B-related syndrome. Clin Epigenetics. 2019 11 04; 11(1):156. PMID: 31685013.
    Citations: 22     Fields:    Translation:HumansCells
  19. Reuter CM, Kohler JN, Bonner D, Zastrow D, Fernandez L, Dries A, Marwaha S, Davidson J, Brokamp E, Herzog M, Hong J, Macnamara E, Rosenfeld JA, Schoch K, Spillmann R, Loscalzo J, Krier J, Stoler J, Sweetser D, Palmer CGS, Phillips JA, Shashi V, Adams DA, Yang Y, Ashley EA, Fisher PG, Mulvihill JJ, Bernstein JA, Wheeler MT. Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing. J Genet Couns. 2019 12; 28(6):1107-1118. PMID: 31478310.
    Citations: 10     Fields:    Translation:Humans
  20. Zollino M, Zweier C, Van Balkom ID, Sweetser DA, Alaimo J, Bijlsma EK, Cody J, Elsea SH, Giurgea I, Macchiaiolo M, Smigiel R, Thibert RL, Benoist I, Clayton-Smith J, De Winter CF, Deckers S, Gandhi A, Huisman S, Kempink D, Kruisinga F, Lamacchia V, Marangi G, Menke L, Mulder P, Nordgren A, Renieri A, Routledge S, Saunders CJ, Stembalska A, Van Balkom H, Whalen S, Hennekam RC. Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement. Clin Genet. 2019 04; 95(4):462-478. PMID: 30677142.
    Citations: 21     Fields:    Translation:Humans
  21. Kelly M, Park M, Mihalek I, Rochtus A, Gramm M, Pérez-Palma E, Axeen ET, Hung CY, Olson H, Swanson L, Anselm I, Briere LC, High FA, Sweetser DA, Kayani S, Snyder M, Calvert S, Scheffer IE, Yang E, Waugh JL, Lal D, Bodamer O, Poduri A. Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. Epilepsia. 2019 03; 60(3):406-418. PMID: 30682224.
    Citations: 22     Fields:    Translation:Humans
  22. Jansen S, van der Werf IM, Innes AM, Afenjar A, Agrawal PB, Anderson IJ, Atwal PS, van Binsbergen E, van den Boogaard MJ, Castiglia L, Coban-Akdemir ZH, van Dijck A, Doummar D, van Eerde AM, van Essen AJ, van Gassen KL, Guillen Sacoto MJ, van Haelst MM, Iossifov I, Jackson JL, Judd E, Kaiwar C, Keren B, Klee EW, Klein Wassink-Ruiter JS, Meuwissen ME, Monaghan KG, de Munnik SA, Nava C, Ockeloen CW, Pettinato R, Racher H, Rinne T, Romano C, Sanders VR, Schnur RE, Smeets EJ, Stegmann APA, Stray-Pedersen A, Sweetser DA, Terhal PA, Tveten K, VanNoy GE, de Vries PF, Waxler JL, Willing M, Pfundt R, Veltman JA, Kooy RF, Vissers LELM, de Vries BBA. De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms. Eur J Hum Genet. 2019 05; 27(5):738-746. PMID: 30679813.
    Citations: 12     Fields:    Translation:Humans
  23. Splinter K, Adams DR, Bacino CA, Bellen HJ, Bernstein JA, Cheatle-Jarvela AM, Eng CM, Esteves C, Gahl WA, Hamid R, Jacob HJ, Kikani B, Koeller DM, Kohane IS, Lee BH, Loscalzo J, Luo X, McCray AT, Metz TO, Mulvihill JJ, Nelson SF, Palmer CGS, Phillips JA, Pick L, Postlethwait JH, Reuter C, Shashi V, Sweetser DA, Tifft CJ, Walley NM, Wangler MF, Westerfield M, Wheeler MT, Wise AL, Worthey EA, Yamamoto S, Ashley EA. Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. N Engl J Med. 2018 11 29; 379(22):2131-2139. PMID: 30304647; PMCID: PMC6481166.
    Citations: 116     Fields:    Translation:HumansAnimals
  24. Olson HE, Jean-Marçais N, Yang E, Heron D, Tatton-Brown K, van der Zwaag PA, Bijlsma EK, Krock BL, Backer E, Kamsteeg EJ, Sinnema M, Reijnders MRF, Bearden D, Begtrup A, Telegrafi A, Lunsing RJ, Burglen L, Lesca G, Cho MT, Smith LA, Sheidley BR, El Achkar CM, Pearl PL, Poduri A, Skraban CM, Tarpinian J, Nesbitt AI, Fransen van de Putte DE, Ruivenkamp CAL, Rump P, Chatron N, Sabatier I, De Bellescize J, Guibaud L, Sweetser DA, Waxler JL, Wierenga KJ, Donadieu J, Narayanan V, Ramsey KM, Nava C, Rivière JB, Vitobello A, Mau-Them FT, Philippe C, Bruel AL, Duffourd Y, Thomas L, Lelieveld SH, Schuurs-Hoeijmakers J, Brunner HG, Keren B, Thevenon J, Faivre L, Thomas G, Thauvin-Robinet C. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. Am J Hum Genet. 2018 10 04; 103(4):631. PMID: 30290155; PMCID: PMC6174321.
    Citations: 4     Fields:    
  25. Haghighi A, Krier JB, Toth-Petroczy A, Cassa CA, Frank NY, Carmichael N, Fieg E, Bjonnes A, Mohanty A, Briere LC, Lincoln S, Lucia S, Gupta VA, Söylemez O, Sutti S, Kooshesh K, Qiu H, Fay CJ, Perroni V, Valerius J, Hanna M, Frank A, Ouahed J, Snapper SB, Pantazi A, Chopra SS, Leshchiner I, Stitziel NO, Feldweg A, Mannstadt M, Loscalzo J, Sweetser DA, Liao E, Stoler JM, Nowak CB, Sanchez-Lara PA, Klein OD, Perry H, Patsopoulos NA, Raychaudhuri S, Goessling W, Green RC, Seidman CE, MacRae CA, Sunyaev SR, Maas RL, Vuzman D. An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery. NPJ Genom Med. 2018; 3:21. PMID: 30131872; PMCID: PMC6089983.
    Citations: 7     
  26. Xing S, Shao P, Li F, Zhao X, Seo W, Wheat JC, Ramasamy S, Wang J, Li X, Peng W, Yu S, Liu C, Taniuchi I, Sweetser DA, Xue HH. Tle corepressors are differentially partitioned to instruct CD8+ T cell lineage choice and identity. J Exp Med. 2018 08 06; 215(8):2211-2226. PMID: 30045946; PMCID: PMC6080905.
    Citations: 16     Fields:    Translation:AnimalsCells
  27. Olson HE, Jean-Marçais N, Yang E, Heron D, Tatton-Brown K, van der Zwaag PA, Bijlsma EK, Krock BL, Backer E, Kamsteeg EJ, Sinnema M, Reijnders MRF, Bearden D, Begtrup A, Telegrafi A, Lunsing RJ, Burglen L, Lesca G, Cho MT, Smith LA, Sheidley BR, Moufawad El Achkar C, Pearl PL, Poduri A, Skraban CM, Tarpinian J, Nesbitt AI, Fransen van de Putte DE, Ruivenkamp CAL, Rump P, Chatron N, Sabatier I, De Bellescize J, Guibaud L, Sweetser DA, Waxler JL, Wierenga KJ, Donadieu J, Narayanan V, Ramsey KM, Nava C, Rivière JB, Vitobello A, Tran Mau-Them F, Philippe C, Bruel AL, Duffourd Y, Thomas L, Lelieveld SH, Schuurs-Hoeijmakers J, Brunner HG, Keren B, Thevenon J, Faivre L, Thomas G, Thauvin-Robinet C. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. Am J Hum Genet. 2018 05 03; 102(5):995-1007. PMID: 29656858; PMCID: PMC5986694.
    Citations: 10     Fields:    Translation:Humans
  28. Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nat Genet. 2017 Oct; 49(10):1529-1538. PMID: 28805828; PMCID: PMC5819591.
    Citations: 80     Fields:    Translation:HumansAnimalsCells
  29. Hennig KM, Fass DM, Zhao WN, Sheridan SD, Fu T, Erdin S, Stortchevoi A, Lucente D, Cody JD, Sweetser D, Gusella JF, Talkowski ME, Haggarty SJ. WNT/ß-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene TCF4. Mol Neuropsychiatry. 2017 Jul; 3(1):53-71. PMID: 28879201; PMCID: PMC5582445.
    Citations: 9     
  30. Zou F, McWalter K, Schmidt L, Decker A, Picker JD, Lincoln S, Sweetser DA, Briere LC, Harini C, Marsh E, Medne L, Wang RY, Leydiker K, Mower A, Visser G, Cuppen I, van Gassen KL, van der Smagt J, Yousaf A, Tennison M, Shanmugham A, Butler E, Richard G, McKnight D. Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype. J Neurogenet. 2017 Mar - Jun; 31(1-2):30-36. PMID: 28460589; PMCID: PMC6169784.
    Citations: 4     Fields:    Translation:Humans
  31. Sweetser DA, Lin AE, Troulis MJ, Chen TC, Westra SJ. Case 34-2016. A 17-Year-Old Boy with Myopia and Craniofacial and Skeletal Abnormalities. N Engl J Med. 2016 11 10; 375(19):1879-1890. PMID: 27959664.
    Citations: 2     Fields:    Translation:Humans
  32. Lennerz JK, McLaughlin HM, Baron JM, Rasmussen D, Sumbada Shin M, Berners-Lee N, Miller Batten J, Swoboda KJ, Gala MK, Winter HS, Schmahmann JD, Sweetser DA, Boswell M, Pacula M, Stenzinger A, Le LP, Hynes W, Rehm HL, Klibanski A, Black-Schaffer SW, Golden JA, Louis DN, Weiss ST, Iafrate AJ. Health Care Infrastructure for Financially Sustainable Clinical Genomics. J Mol Diagn. 2016 09; 18(5):697-706. PMID: 27471182.
    Citations: 9     Fields:    Translation:Humans
  33. Shin TH, Brynczka C, Dayyani F, Rivera MN, Sweetser DA. TLE4 regulation of wnt-mediated inflammation underlies its role as a tumor suppressor in myeloid leukemia. Leuk Res. 2016 09; 48:46-56. PMID: 27486062; PMCID: PMC5266616.
    Citations: 9     Fields:    Translation:HumansCells
  34. Berko ER, Cho MT, Eng C, Shao Y, Sweetser DA, Waxler J, Robin NH, Brewer F, Donkervoort S, Mohassel P, Bönnemann CG, Bialer M, Moore C, Wolfe LA, Tifft CJ, Shen Y, Retterer K, Millan F, Chung WK. De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. J Med Genet. 2017 02; 54(2):84-86. PMID: 27389779.
    Citations: 21     Fields:    Translation:Humans
  35. Alexander-Bloch AF, McDougle CJ, Ullman Z, Sweetser DA. IQSEC2 and X-linked syndromal intellectual disability. Psychiatr Genet. 2016 Jun; 26(3):101-8. PMID: 27010919; PMCID: PMC9317176.
    Citations: 8     Fields:    Translation:Humans
  36. Walker MA, Mohler KP, Hopkins KW, Oakley DH, Sweetser DA, Ibba M, Frosch MP, Thibert RL. Novel Compound Heterozygous Mutations Expand the Recognized Phenotypes of FARS2-Linked Disease. J Child Neurol. 2016 08; 31(9):1127-37. PMID: 27095821; PMCID: PMC4981184.
    Citations: 15     Fields:    Translation:Humans
  37. Ramasamy S, Saez B, Mukhopadhyay S, Ding D, Ahmed AM, Chen X, Pucci F, Yamin R, Wang J, Pittet MJ, Kelleher CM, Scadden DT, Sweetser DA. Tle1 tumor suppressor negatively regulates inflammation in vivo and modulates NF-?B inflammatory pathway. Proc Natl Acad Sci U S A. 2016 Feb 16; 113(7):1871-6. PMID: 26831087; PMCID: PMC4763742.
    Citations: 37     Fields:    Translation:Animals
  38. Mason-Suares H, Sweetser DA, Lindeman NI, Morton CC. Training the Future Leaders in Personalized Medicine. J Pers Med. 2016 Jan 07; 6(1). PMID: 26751479; PMCID: PMC4810380.
    Citations: 6     
  39. Consugar MB, Navarro-Gomez D, Place EM, Bujakowska KM, Sousa ME, Fonseca-Kelly ZD, Taub DG, Janessian M, Wang DY, Au ED, Sims KB, Sweetser DA, Fulton AB, Liu Q, Wiggs JL, Gai X, Pierce EA. Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing. Genet Med. 2015 Apr; 17(4):253-261. PMID: 25412400; PMCID: PMC4572572.
    Citations: 129     Fields:    Translation:Humans
  40. Giampietro PF, Armstrong L, Stoddard A, Blank RD, Livingston J, Raggio CL, Rasmussen K, Pickart M, Lorier R, Turner A, Sund S, Sobrera N, Neptune E, Sweetser D, Santiago-Cornier A, Broeckel U. Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes. Am J Med Genet A. 2015 Jan; 167A(1):95-102. PMID: 25348728.
    Citations: 2     Fields:    Translation:Humans
  41. Farough S, Karaa A, Walker MA, Slate N, Dasu T, Verbsky J, Fusunyan R, Canapari C, Kinane TB, Van Cleave J, Sweetser DA, Sims KB, Walter JE. Coenzyme Q10 and immunity: A case report and new implications for treatment of recurrent infections in metabolic diseases. Clin Immunol. 2014 Dec; 155(2):209-12. PMID: 25264263.
    Citations: 7     Fields:    Translation:HumansCells
  42. Wheat JC, Krause DS, Shin TH, Chen X, Wang J, Ding D, Yamin R, Sweetser DA. The corepressor Tle4 is a novel regulator of murine hematopoiesis and bone development. PLoS One. 2014; 9(8):e105557. PMID: 25153823.
    Citations: 17     Fields:    Translation:AnimalsCells
  43. Walker MA, Slate N, Alejos A, Volpi S, Iyengar RS, Sweetser D, Sims KB, Walter JE. Predisposition to infection and SIRS in mitochondrial disorders: 8 years' experience in an academic center. J Allergy Clin Immunol Pract. 2014 Jul-Aug; 2(4):465-468, 468.e1. PMID: 25017538.
    Citations: 21     Fields:    Translation:Humans
  44. Sahai I, Garganta CL, Bailey J, James P, Levy HL, Martin M, Neilan E, Phornphutkul C, Sweetser DA, Zytkovicz TH, Eaton RB. Newborn Screening for Glutaric Aciduria-II: The New England Experience. JIMD Rep. 2014; 13:1-14. PMID: 24190796.
    Citations: 4     
  45. Zhang Y, Wang J, Wheat J, Chen X, Jin S, Sadrzadeh H, Fathi AT, Peterson RT, Kung AL, Sweetser DA, Yeh JR. AML1-ETO mediates hematopoietic self-renewal and leukemogenesis through a COX/ß-catenin signaling pathway. Blood. 2013 Jun 13; 121(24):4906-16. PMID: 23645839; PMCID: PMC3682341.
    Citations: 28     Fields:    Translation:HumansAnimalsCells
  46. Sweetser, DA and Grabowski, EG. Pediatric Malignancies: Retinoblastoma and Wilms’ Tumor. MGH Guide to Clinical Cancer Genetics, ed Chung and Haber. 2010; (2010, in press).
  47. Yeh JR, Munson KM, Elagib KE, Goldfarb AN, Sweetser DA, Peterson RT. Discovering chemical modifiers of oncogene-regulated hematopoietic differentiation. Nat Chem Biol. 2009 Apr; 5(4):236-43. PMID: 19172146.
    Citations: 79     Fields:    Translation:HumansAnimalsCells
  48. Kim WJ, Okimoto RA, Purton LE, Goodwin M, Haserlat SM, Dayyani F, Sweetser DA, McClatchey AI, Bernard OA, Look AT, Bell DW, Scadden DT, Haber DA. Mutations in the neutral sphingomyelinase gene SMPD3 implicate the ceramide pathway in human leukemias. Blood. 2008 May 01; 111(9):4716-22. PMID: 18299447; PMCID: PMC2343601.
    Citations: 50     Fields:    Translation:HumansAnimalsCells
  49. Dayyani F, Wang J, Yeh JR, Ahn EY, Tobey E, Zhang DE, Bernstein ID, Peterson RT, Sweetser DA. Loss of TLE1 and TLE4 from the del(9q) commonly deleted region in AML cooperates with AML1-ETO to affect myeloid cell proliferation and survival. Blood. 2008 Apr 15; 111(8):4338-47. PMID: 18258796; PMCID: PMC2288729.
    Citations: 46     Fields:    Translation:HumansAnimalsCells
  50. Kletter GB, Sweetser DA, Wallace SF, Sawin RS, Rutledge JC, Geyer JR. Adrenocorticotropin-secreting pancreatoblastoma. J Pediatr Endocrinol Metab. 2007 May; 20(5):639-42. PMID: 17642425.
    Citations: 1     Fields:    Translation:Humans
  51. David A. Sweetser, Farshid Dayyani, Jianfeng Wang, Yuntian Zhang, and Tanweer Zaidi. The Groucho Corepressors, TLE1 and TLE4, Are Candidate Del(9q) AML Tumor Suppressor Genes That Can Complement AML1-ETO. Blood. 2006; 108(11):Abstr#1406.
  52. Pollard JA, Alonzo TA, Gerbing RB, Woods WG, Lange BJ, Sweetser DA, Radich JP, Bernstein ID, Meshinchi S. FLT3 internal tandem duplication in CD34+/CD33- precursors predicts poor outcome in acute myeloid leukemia. Blood. 2006 Oct 15; 108(8):2764-9. PMID: 16809615; PMCID: PMC1895585.
    Citations: 24     Fields:    Translation:HumansCells
  53. Farshid Dayyani, MD, Yuntian Zhang, MS, Syed Tanweer Zaidi, PhD and David A Sweetser, MD,PhD . TLE Corepressors as Novel Candidate AML Tumor Suppressor Genes That Regulate Wnt Signaling, Cell Cycle Progression, And Myeloid Differentiation. Blood. 2005; 106(11):1601.
  54. Sweetser DA, Peniket AJ, Haaland C, Blomberg AA, Zhang Y, Zaidi ST, Dayyani F, Zhao Z, Heerema NA, Boultwood J, Dewald GW, Paietta E, Slovak ML, Willman CL, Wainscoat JS, Bernstein ID, Daly SB. Delineation of the minimal commonly deleted segment and identification of candidate tumor-suppressor genes in del(9q) acute myeloid leukemia. Genes Chromosomes Cancer. 2005 Nov; 44(3):279-91. PMID: 16015647.
    Citations: 26     Fields:    Translation:HumansCells
  55. Zhao Z, Daly S, Liu Yin J,Sweetser DA, Boultwood J, Wainscoat J, Peniket, AJ. Genes Located within the del(9q) Commonly Deleted Region Are Down-Regulated in Acute Myeloid Leukaemia. Blood. 2004; 100(11):562a.
  56. Meshinchi S, Stirewalt DL, Alonzo TA, Zhang Q, Sweetser DA, Woods WG, Bernstein ID, Arceci RJ, Radich JP. Activating mutations of RTK/ras signal transduction pathway in pediatric acute myeloid leukemia. Blood. 2003 Aug 15; 102(4):1474-9. PMID: 12702504.
    Citations: 41     Fields:    Translation:HumansCells
  57. Sweetser DA, Daly SB, Haaland-Pullus C, Side LE, Blomberg AA, Bernstein ID, Wainscoat JS, Boultwood J and Peniket AJ. Identification Of Candidate Tumor Suppressor Genes In The Commonly Deleted Region Of Del(9q) AML. Blood. 2002; 100(11):abstr#1194.
  58. Sweetser DA, Chen CS, Blomberg AA, Flowers DA, Galipeau PC, Barrett MT, Heerema NA, Buckley J, Woods WG, Bernstein ID, Reid BJ. Loss of heterozygosity in childhood de novo acute myelogenous leukemia. Blood. 2001 Aug 15; 98(4):1188-94. PMID: 11493469.
    Citations: 6     Fields:    Translation:HumansCells
  59. Meshinchi S, Woods WG, Stirewalt DL, Sweetser DA, Buckley JD, Tjoa TK, Bernstein ID, Radich JP. Prevalence and prognostic significance of Flt3 internal tandem duplication in pediatric acute myeloid leukemia. Blood. 2001 Jan 01; 97(1):89-94. PMID: 11133746.
    Citations: 128     Fields:    Translation:HumansCells
  60. Sweetser DA, Chen C-S, Flowers DA, Galipeau PC, Barrett MT, Heerema NA, Tjoa T, Buckley J, Bernstein ID, and Reid BJ. Loss Of Heterozygosity Occurs In Childhood De Novo Acute Myeloid Leukemia And Is Associated With An Elevated White Blood Cell Count. Blood. 2000; 96(11).
  61. Rice J, Doggett B, Sweetser DA, Yanagisawa H, Yanagisawa M, Kapur RP. Transgenic rescue of aganglionosis and piebaldism in lethal spotted mice. Dev Dyn. 2000 Jan; 217(1):120-32. PMID: 10679935.
    Citations: 9     Fields:    Translation:Animals
  62. Gestblom C, Sweetser DA, Doggett B, Kapur RP. Sympathoadrenal hyperplasia causes renal malformations in Ret(MEN2B)-transgenic mice. Am J Pathol. 1999 Dec; 155(6):2167-79. PMID: 10595945; PMCID: PMC1866938.
    Citations: 4     Fields:    Translation:Animals
  63. Sweetser DA, Froelick GJ, Matsumoto AM, Kafer KE, Marck B, Palmiter RD, Kapur RP. Ganglioneuromas and renal anomalies are induced by activated RET(MEN2B) in transgenic mice. Oncogene. 1999 Jan 28; 18(4):877-86. PMID: 10023663.
    Citations: 12     Fields:    Translation:HumansAnimals
  64. Sweetser DA, Kapur RP, Froelick GJ, Kafer KE, Palmiter RD. Oncogenesis and altered differentiation induced by activated Ras in neuroblasts of transgenic mice. Oncogene. 1997 Dec 04; 15(23):2783-94. PMID: 9419969.
    Citations: 5     Fields:    Translation:HumansAnimalsCells
  65. Kapur RP, Livingston R, Doggett B, Sweetser DA, Siebert JR, Palmiter RD. Abnormal microenvironmental signals underlie intestinal aganglionosis in Dominant megacolon mutant mice. Dev Biol. 1996 Mar 15; 174(2):360-9. PMID: 8631507.
    Citations: 10     Fields:    Translation:AnimalsCells
  66. Steiner RD, Sweetser DA, Rohrbaugh JR, Dowton SB, Toone JR, Applegarth DA. Nonketotic hyperglycinemia: atypical clinical and biochemical manifestations. J Pediatr. 1996 Feb; 128(2):243-6. PMID: 8636821.
    Citations: 11     Fields:    Translation:Humans
  67. Kapur RP, Sweetser DA, Doggett B, Siebert JR, Palmiter RD. Intercellular signals downstream of endothelin receptor-B mediate colonization of the large intestine by enteric neuroblasts. Development. 1995 Nov; 121(11):3787-95. PMID: 8582288.
    Citations: 22     Fields:    Translation:AnimalsCells
  68. Edelhoff S, Sweetser DA, Disteche CM. Mapping of the NEP receptor tyrosine kinase gene to human chromosome 6p21.3 and mouse chromosome 17C. Genomics. 1995 Jan 01; 25(1):309-11. PMID: 7774938.
    Citations: 3     Fields:    Translation:HumansAnimalsCells
  69. Herman TE, Sweetser DA, McAlister WH, Dowton SB. Schinzel-Giedion syndrome and congenital megacalyces. Pediatr Radiol. 1993; 23(2):111-2. PMID: 8516031.
    Citations: 6     Fields:    Translation:Humans
  70. Hauft SM, Sweetser DA, Rotwein PS, Lajara R, Hoppe PC, Birkenmeier EH, Gordon JI. A transgenic mouse model that is useful for analyzing cellular and geographic differentiation of the intestine during fetal development. J Biol Chem. 1989 May 15; 264(14):8419-29. PMID: 2656678.
    Citations: 10     Fields:    Translation:Animals
  71. Sweetser DA and Gordon JI. Regulation of fatty acid binding protein gene expression in the gut. 1989.
  72. Sweetser DA, Hauft SM, Hoppe PC, Birkenmeier EH, Gordon JI. Transgenic mice containing intestinal fatty acid-binding protein-human growth hormone fusion genes exhibit correct regional and cell-specific expression of the reporter gene in their small intestine. Proc Natl Acad Sci U S A. 1988 Dec; 85(24):9611-5. PMID: 3200846; PMCID: PMC282814.
    Citations: 51     Fields:    Translation:Animals
  73. Nerland AH, Mustafa AS, Sweetser D, Godal T, Young RA. A protein antigen of Mycobacterium leprae is related to a family of small heat shock proteins. J Bacteriol. 1988 Dec; 170(12):5919-21. PMID: 3056923; PMCID: PMC211703.
    Citations: 25     Fields:    Translation:AnimalsCells
  74. Sweetser DA, Birkenmeier EH, Hoppe PC, McKeel DW, Gordon JI. Mechanisms underlying generation of gradients in gene expression within the intestine: an analysis using transgenic mice containing fatty acid binding protein-human growth hormone fusion genes. Genes Dev. 1988 Oct; 2(10):1318-32. PMID: 2462524.
    Citations: 49     Fields:    Translation:HumansAnimalsCells
  75. Young D, Lathigra R, Hendrix R, Sweetser D, Young RA. Stress proteins are immune targets in leprosy and tuberculosis. Proc Natl Acad Sci U S A. 1988 Jun; 85(12):4267-70. PMID: 3132709; PMCID: PMC280408.
    Citations: 148     Fields:    Translation:HumansCells
  76. Lathigra RB, Young DB, Sweetser D, Young RA. A gene from Mycobacterium tuberculosis which is homologous to the DnaJ heat shock protein of E. coli. Nucleic Acids Res. 1988 Feb 25; 16(4):1636. PMID: 3126487; PMCID: PMC336357.
    Citations: 13     Fields:    Translation:Cells
  77. Sweetser DA, Birkenmeier EH, Klisak IJ, Zollman S, Sparkes RS, Mohandas T, Lusis AJ, Gordon JI. The human and rodent intestinal fatty acid binding protein genes. A comparative analysis of their structure, expression, and linkage relationships. J Biol Chem. 1987 Nov 25; 262(33):16060-71. PMID: 2824476.
    Citations: 80     Fields:    Translation:HumansAnimalsCells
  78. Nonet M, Sweetser D, Young RA. Functional redundancy and structural polymorphism in the large subunit of RNA polymerase II. Cell. 1987 Sep 11; 50(6):909-15. PMID: 3304659.
    Citations: 134     Fields:    Translation:AnimalsCells
  79. Sweetser D, Nonet M, Young RA. Prokaryotic and eukaryotic RNA polymerases have homologous core subunits. Proc Natl Acad Sci U S A. 1987 Mar; 84(5):1192-6. PMID: 3547406; PMCID: PMC304392.
    Citations: 139     Fields:    Translation:AnimalsCells
  80. Demmer LA, Birkenmeier EH, Sweetser DA, Levin MS, Zollman S, Sparkes RS, Mohandas T, Lusis AJ, Gordon JI. The cellular retinol binding protein II gene. Sequence analysis of the rat gene, chromosomal localization in mice and humans, and documentation of its close linkage to the cellular retinol binding protein gene. J Biol Chem. 1987 Feb 25; 262(6):2458-67. PMID: 3029082.
    Citations: 27     Fields:    Translation:HumansAnimalsCells
  81. Sweetser DA, Heuckeroth RO, Gordon JI. The metabolic significance of mammalian fatty-acid-binding proteins: abundant proteins in search of a function. Annu Rev Nutr. 1987; 7:337-59. PMID: 3300738.
    Citations: 73     Fields:    Translation:HumansAnimalsCells
  82. Sweetser DA, Heuckeroth RO and Gordon JI. . The metabolic significance of mammalian fatty-acid-binding proteins: abundant proteins in search of a function. Ann. Rev. Nutr. 1987; 7:337-359.
  83. Snyder M, Elledge S, Sweetser D, Young RA, Davis RW. Lambda gt 11: gene isolation with antibody probes and other applications. Methods Enzymol. 1987; 154:107-28. PMID: 2448583.
    Citations: 65     Fields:    Translation:HumansAnimalsCells
  84. Li E, Demmer LA, Sweetser DA, Ong DE, Gordon JI. Rat cellular retinol-binding protein II: use of a cloned cDNA to define its primary structure, tissue-specific expression, and developmental regulation. Proc Natl Acad Sci U S A. 1986 Aug; 83(16):5779-83. PMID: 3461459; PMCID: PMC386378.
    Citations: 20     Fields:    Translation:AnimalsCells
  85. Sweetser DA, Lowe JB, Gordon JI. The nucleotide sequence of the rat liver fatty acid-binding protein gene. Evidence that exon 1 encodes an oligopeptide domain shared by a family of proteins which bind hydrophobic ligands. J Biol Chem. 1986 Apr 25; 261(12):5553-61. PMID: 3007511.
    Citations: 21     Fields:    Translation:AnimalsCells
  86. Lowe JB, Boguski MS, Sweetser DA, Elshourbagy NA, Taylor JM, Gordon JI. Human liver fatty acid binding protein. Isolation of a full length cDNA and comparative sequence analyses of orthologous and paralogous proteins. J Biol Chem. 1985 Mar 25; 260(6):3413-7. PMID: 3838313.
    Citations: 17     Fields:    Translation:HumansAnimalsCells
  87. Sweetser DA and Schimke RT. Characterization of a highly repeated DNA sequence in rodents. 1982.
  88. Simonsen CC, Brown PC, Crouse GF, McGrogan M, Setzer D, Sweetser DA, Kaufman RJ, Schimke RT. Gene amplification as a mechanism for drug resistance in cultured animal cells. Molecular Basis of Drug Action, Singer and Ondarza editors. 1981; 343-359.
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.