Harvard Catalyst Profiles

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Pankaj B. Agrawal, M.D., M.B.,B.S.

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Research
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. R01HG011798 (AGRAWAL, PANKAJ B) Sep 24, 2021 - Jun 30, 2026
    NIH
    VIGOR: Virtual Genome Center for Infant Health
    Role: Principal Investigator
  2. R01AR068429 (AGRAWAL, PANKAJ B) Sep 14, 2015 - Jun 30, 2021
    NIH
    SPEG is Critical in Skeletal Muscle Development and Function
    Role: Principal Investigator
  3. K08AR055072 (AGRAWAL, PANKAJ B) Jul 1, 2007 - Jun 30, 2012
    NIH
    Cofilin-2: Molecular Function and it's Role in Myopathies
    Role: Principal Investigator

Bibliographic
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. Benamar M, Chen Q, Chou J, Julé AM, Boudra R, Contini P, Crestani E, Lai PS, Wang M, Fong J, Rockwitz S, Lee PY, Chan TMF, Altun EZ, Kepenekli E, Karakoc-Aydiner E, Ozen A, Boran P, Aygun F, Önal P, Kilinc Sakalli AA, Cokugras H, Gelmez MY, Oktelik FB, Cetin Aktas E, Zhong Y, Taylor ML, Irby K, Halasa NB, Mack EH, Signa S, Prigione I, Gattorno M, Cotugno N, Amodio D, Geha RS, Son MB, Newburger JW, Agrawal PB, Volpi S, Palma P, Kiykim A, Randolph A, Deniz G, Baris S, De Palma R, Schmitz-Abe K, Charbonnier LM, Henderson LA, Chatila TA. The Notch1/CD22 signaling axis disrupts Treg cell function in SARS-CoV2-associated multisystem inflammatory syndrome in children. J Clin Invest. 2022 Oct 25. PMID: 36282598.
    Citations:    Fields:    
  2. D'Gama AM, Del Rosario MC, Bresnahan MA, Yu TW, Wojcik MH, Agrawal PB. Integrating rapid exome sequencing into NICU clinical care after a pilot research study. NPJ Genom Med. 2022 Sep 05; 7(1):51. PMID: 36064943; PMCID: PMC9441819.
    Citations:    
  3. Brownstein CA, Douard E, Mollon J, Smith R, Hojlo MA, Das A, Goldman M, Garvey E, Cabral K, Li J, Bowen J, Rao AS, Genetti C, Carroll D, Knowles EEM, Deaso E, Agrawal PB, Beggs AH, D'Angelo E, Almasy L, Alexander-Bloch A, Saci Z, Moreau CA, Huguet G, Deo AJ, Jacquemont S, Glahn DC, Gonzalez-Heydrich J. Similar Rates of Deleterious Copy Number Variants in Early-Onset Psychosis and Autism Spectrum Disorder. Am J Psychiatry. 2022 Nov 01; 179(11):853-861. PMID: 36000218; PMCID: PMC9633349.
    Citations:    Fields:    Translation:Humans
  4. Luna CBB, do Nascimento EP, Siqueira DD, Soares BG, Agrawal P, de Mélo TJA, Araújo EM. Tailoring Nylon 6/Acrylonitrile-Butadiene-Styrene Nanocomposites for Application against Electromagnetic Interference: Evaluation of the Mechanical, Thermal and Electrical Behavior, and the Electromagnetic Shielding Efficiency. Int J Mol Sci. 2022 Aug 12; 23(16). PMID: 36012282; PMCID: PMC9408880.
    Citations:    Fields:    
  5. Li Q, Lin J, Widrick JJ, Luo S, Li G, Zhang Y, Laporte J, Perrella MA, Liu X, Agrawal PB. Dynamin-2 reduction rescues the skeletal myopathy of a SPEG-deficient mouse model. JCI Insight. 2022 08 08; 7(15). PMID: 35763354; PMCID: PMC9462472.
    Citations:    Fields:    
  6. Zhang T, Briere JM, Leeman KT, Wojcik MH, Agrawal PB. Ethical implications of early genetic diagnosis in an infant with Lesch-Nyhan syndrome. J Genet Couns. 2022 Aug 02. PMID: 35916015.
    Citations:    Fields:    
  7. Vezyroglou A, Akilapa R, Barwick K, Koene S, Brownstein CA, Holder-Espinasse M, Fry AE, Németh AH, Tofaris GK, Hay E, Hughes I, Mansour S, Mordekar SR, Splitt M, Turnpenny PD, Demetriou D, Koopmann TT, Ruivenkamp CAL, Agrawal PB, Carr L, Clowes V, Ghali N, Holder SE, Radley J, Male A, Sisodiya SM, Kurian MA, Cross JH, Balasubramanian M. The Phenotypic Continuum of ATP1A3-Related Disorders. Neurology. 2022 Oct 04; 99(14):e1511-e1526. PMID: 36192182; PMCID: PMC9576304.
    Citations:    Fields:    Translation:Humans
  8. Vezyroglou A, Akilapa R, Barwick K, Koene S, Brownstein CA, Holder-Espinasse M, Fry AE, Nemeth AH, Tofaris GK, Hay E, Hughes I, Mansour S, Mordekar SR, Splitt M, Turnpenny PD, Demetriou D, Koopmann TT, Ruivenkamp CAL, Agrawal PB, Carr L, Clowes V, Ghali N, Holder SE, Radley J, Male A, Sisodiya SM, Kurian MA, Cross JH, Balasubramanian M. The Phenotypic Continuum of ATPLA3-Related Disorders. Neurology. 2022 Jul 18. PMID: 35851257.
    Citations:    Fields:    
  9. Sena C, Iannello G, Skowronski AA, Dannheim K, Cheung L, Agrawal PB, Hirschhorn JN, Zeitler P, LeDuc CA, Stratigopoulos G, Thaker VV. Endocrine and behavioural features of Lowe syndrome and their potential molecular mechanisms. J Med Genet. 2022 Dec; 59(12):1171-1178. PMID: 35803701.
    Citations:    Fields:    
  10. Zhao B, Madden JA, Lin J, Berry GT, Wojcik MH, Zhao X, Brand H, Talkowski M, Lee EA, Agrawal PB. A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene. Eur J Hum Genet. 2022 09; 30(9):1083-1087. PMID: 35768521; PMCID: PMC9437004.
    Citations:    Fields:    
  11. Wojcik MH, D'Gama AM, Agrawal PB. A model to implement genomic medicine in the neonatal intensive care unit. J Perinatol. 2022 Jun 24. PMID: 35750755.
    Citations:    Fields:    
  12. Agrawal P, Newbold S, Al Busaidi A, Kapoor RR, Thomas N, Aylwin SJ, Buchanan CR, Arya VB. Pituitary apoplexy in an adolescent male with macroprolactinoma presenting as middle cerebral artery territory infarction. Ann Pediatr Endocrinol Metab. 2022 May 16. PMID: 35592897.
    Citations:    
  13. Chatila TA, Benamar M, Chen Q, Chou J, Julé A, Boudra R, Contini P, Crestani E, Wang M, Fong J, Lai P, Rockwitz S, Lee P, Chan TMF, Altun EZ, Kepenekli E, Karakoc-Aydiner E, Ozen A, Boran P, Aygun F, Onal P, Sakalli AAK, Cokugras H, Gelmez M, Öktelik F, Cetin EA, Zhong Y, Taylor M, Irby K, Halasa N, Signa S, Prigione I, Gattorno M, Cotugno N, Amodio D, Geha R, Son MB, Newburger J, Agrawal P, Volpi S, Palma P, Kiykim A, Randolph A, Deniz G, Baris S, De Palma R, Schmitz-Abe K, Charbonnier LM, Henderson L. Notch1-CD22-Dependent Immune Dysregulation in the SARS-CoV2-Associated Multisystem Inflammatory Syndrome in Children. Res Sq. 2022 Apr 11. PMID: 35441180; PMCID: PMC9016654.
    Citations:    
  14. Morton SU, Christodoulou J, Costain G, Muntoni F, Wakeling E, Wojcik MH, French CE, Szuto A, Dowling JJ, Cohn RD, Raymond FL, Darras BT, Williams DA, Lunke S, Stark Z, Rowitch DH, Agrawal PB. Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review. JAMA Neurol. 2022 04 01; 79(4):405-413. PMID: 35254387.
    Citations:    Fields:    Translation:Humans
  15. Khashu M, Dame C, Lavoie PM, De Plaen IG, Garg PM, Sampath V, Malhotra A, Caplan MD, Kumar P, Agrawal PB, Buonocore G, Christensen RD, Maheshwari A. Current Understanding of Transfusion-associated Necrotizing Enterocolitis: Review of Clinical and Experimental Studies and a Call for More Definitive Evidence. Newborn (Clarksville). 2022 Jan-Mar; 1(1):201-208. PMID: 35746957; PMCID: PMC9217573.
    Citations:    
  16. Marcogliese PC, Deal SL, Andrews J, Harnish JM, Bhavana VH, Graves HK, Jangam S, Luo X, Liu N, Bei D, Chao YH, Hull B, Lee PT, Pan H, Bhadane P, Huang MC, Longley CM, Chao HT, Chung HL, Haelterman NA, Kanca O, Manivannan SN, Rossetti LZ, German RJ, Gerard A, Schwaibold EMC, Fehr S, Guerrini R, Vetro A, England E, Murali CN, Barakat TS, van Dooren MF, Wilke M, van Slegtenhorst M, Lesca G, Sabatier I, Chatron N, Brownstein CA, Madden JA, Agrawal PB, Keren B, Courtin T, Perrin L, Brugger M, Roser T, Leiz S, Mau-Them FT, Delanne J, Sukarova-Angelovska E, Trajkova S, Rosenhahn E, Strehlow V, Platzer K, Keller R, Pavinato L, Brusco A, Rosenfeld JA, Marom R, Wangler MF, Yamamoto S. Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases. Cell Rep. 2022 03 15; 38(11):110517. PMID: 35294868; PMCID: PMC8983390.
    Citations: 2     Fields:    Translation:HumansAnimals
  17. Wojcik MH, Del Rosario MC, Agrawal PB. Perspectives of United States neonatologists on genetic testing practices. Genet Med. 2022 06; 24(6):1372-1377. PMID: 35304021; PMCID: PMC9272826.
    Citations:    Fields:    Translation:Humans
  18. Gofin Y, Wang T, Gillentine MA, Scott TM, Berry AM, Azamian MS, Genetti C, Agrawal PB, Picker J, Wojcik MH, Delgado MR, Lynch SA, Scherer SW, Howe JL, Bacino CA, DiTroia S, VanNoy GE, O'Donnell-Luria A, Lalani SR, Graf WD, Rosenfeld JA, Eichler EE, Earl RK, Scott DA. Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency. Hum Mutat. 2022 04; 43(4):461-470. PMID: 35094443; PMCID: PMC8960338.
    Citations:    Fields:    Translation:HumansAnimals
  19. Li Q, Madden JA, Lin J, Shi J, Rosen SM, Schmitz-Abe K, Agrawal PB. Reanalysis of Exome Data Identifies Novel SLC25A46 Variants Associated with Leigh Syndrome. J Pers Med. 2021 Dec 02; 11(12). PMID: 34945750.
    Citations:    
  20. Bruel AL, Vitobello A, Thiffault I, Manwaring L, Willing M, Agrawal PB, Bayat A, Kitzler TM, Brownstein CA, Genetti CA, Gonzalez-Heydrich J, Jayakar P, Zyskind JW, Zhu Z, Vachet C, Wilson GR, Pruniski B, Goyette AM, Duffourd Y, Thauvin-Robinet C, Philippe C, Faivre L. ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum. Eur J Hum Genet. 2022 01; 30(1):111-116. PMID: 34707297; PMCID: PMC8738743.
    Citations: 1     Fields:    Translation:Humans
  21. De La Vega FM, Chowdhury S, Moore B, Frise E, McCarthy J, Hernandez EJ, Wong T, James K, Guidugli L, Agrawal PB, Genetti CA, Brownstein CA, Beggs AH, Löscher BS, Franke A, Boone B, Levy SE, Õunap K, Pajusalu S, Huentelman M, Ramsey K, Naymik M, Narayanan V, Veeraraghavan N, Billings P, Reese MG, Yandell M, Kingsmore SF. Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases. Genome Med. 2021 10 14; 13(1):153. PMID: 34645491; PMCID: PMC8515723.
    Citations: 4     Fields:    Translation:Humans
  22. Yabumoto M, Kianmahd J, Singh M, Palafox MF, Wei A, Elliott K, Goodloe DH, Dean SJ, Gooch C, Murray BK, Swartz E, Schrier Vergano SA, Towne MC, Nugent K, Roeder ER, Kresge C, Pletcher BA, Grand K, Graham JM, Gates R, Gomez-Ospina N, Ramanathan S, Clark RD, Glaser K, Benke PJ, Cohen JS, Fatemi A, Mu W, Baranano KW, Madden JA, Gubbels CS, Yu TW, Agrawal PB, Chambers MK, Phornphutkul C, Pugh JA, Tauber KA, Azova S, Smith JR, O'Donnell-Luria A, Medsker H, Srivastava S, Krakow D, Schweitzer DN, Arboleda VA. Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms. Mol Genet Genomic Med. 2021 10; 9(10):e1809. PMID: 34519438; PMCID: PMC8580094.
    Citations: 1     Fields:    Translation:Humans
  23. Stadelmaier RT, Kenna MA, Barrett D, Mullen TE, Bodamer O, Agrawal PB, Robson CD, Wojcik MH. Neuroimaging in Kabuki syndrome and another KMT2D-related disorder. Am J Med Genet A. 2021 12; 185(12):3770-3783. PMID: 34369642; PMCID: PMC8595668.
    Citations: 1     Fields:    Translation:Humans
  24. Li Q, Dibus M, Casey A, Yee CSK, Vargas SO, Luo S, Rosen SM, Madden JA, Genetti CA, Brabek J, Brownstein CA, Kazerounian S, Raby BA, Schmitz-Abe K, Kennedy JC, Fishman MP, Mullen MP, Taylor JM, Rosel D, Agrawal PB. A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings. PLoS Genet. 2021 07; 17(7):e1009639. PMID: 34232960; PMCID: PMC8289122.
    Citations:    Fields:    Translation:HumansAnimals
  25. Wojcik MH, Stadelmaier R, Heinke D, Holm IA, Tan WH, Agrawal PB. The Unrecognized Mortality Burden of Genetic Disorders in Infancy. Am J Public Health. 2021 07; 111(S2):S156-S162. PMID: 34314210; PMCID: PMC8495634.
    Citations:    Fields:    Translation:Humans
  26. Duncan AR, Polovitskaya MM, Gaitán-Peñas H, Bertelli S, VanNoy GE, Grant PE, O'Donnell-Luria A, Valivullah Z, Lovgren AK, England EM, Agolini E, Madden JA, Schmitz-Abe K, Kritzer A, Hawley P, Novelli A, Alfieri P, Colafati GS, Wieczorek D, Platzer K, Luppe J, Koch-Hogrebe M, Abou Jamra R, Neira-Fresneda J, Lehman A, Boerkoel CF, Seath K, Clarke L, van Ierland Y, Argilli E, Sherr EH, Maiorana A, Diel T, Hempel M, Bierhals T, Estévez R, Jentsch TJ, Pusch M, Agrawal PB. Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders. Am J Hum Genet. 2021 08 05; 108(8):1450-1465. PMID: 34186028; PMCID: PMC8387284.
    Citations:    Fields:    Translation:HumansAnimals
  27. Thomas Q, Gautier T, Marafi D, Besnard T, Willems M, Moutton S, Isidor B, Cogné B, Conrad S, Tenconi R, Iascone M, Sorlin A, Masurel A, Dabir T, Jackson A, Banka S, Delanne J, Lupski JR, Saadi NW, Alkuraya FS, Zahrani FA, Agrawal PB, England E, Madden JA, Posey JE, Burglen L, Rodriguez D, Chevarin M, Nguyen S, Mau-Them FT, Duffourd Y, Garret P, Bruel AL, Callier P, Marle N, Denomme-Pichon AS, Duplomb L, Philippe C, Thauvin-Robinet C, Govin J, Faivre L, Vitobello A. Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity. Genet Med. 2021 10; 23(10):1901-1911. PMID: 34113008.
    Citations: 3     Fields:    Translation:Humans
  28. Luo S, Rosen SM, Li Q, Agrawal PB. Striated Preferentially Expressed Protein Kinase (SPEG) in Muscle Development, Function, and Disease. Int J Mol Sci. 2021 May 27; 22(11). PMID: 34072258; PMCID: PMC8199188.
    Citations: 2     Fields:    Translation:HumansAnimalsCells
  29. Parikh JR, Genetti CA, Aykanat A, Brownstein CA, Schmitz-Abe K, Danowski M, Quitadomo A, Madden JA, Yacoubian C, Gain R, Williams T, Meskell M, Brown A, Frith A, Rockowitz S, Sliz P, Agrawal PB, Defay T, McDonagh P, Reynders J, Lefebvre S, Beggs AH. A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders. HGG Adv. 2021 Jul; 2(3). PMID: 34514437; PMCID: PMC8432593.
    Citations:    
  30. Almannai M, Luo S, Faqeih E, Almutairi F, Li Q, Agrawal PB. Homozygous SPEG Mutation Is Associated With Isolated Dilated Cardiomyopathy. Circ Genom Precis Med. 2021 04; 14(2):e003310. PMID: 33794647.
    Citations: 3     Fields:    Translation:Humans
  31. Wojcik MH, Zhang T, Ceyhan-Birsoy O, Genetti CA, Lebo MS, Yu TW, Parad RB, Holm IA, Rehm HL, Beggs AH, Green RC, Agrawal PB. Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project. Genet Med. 2021 07; 23(7):1372-1375. PMID: 33772220; PMCID: PMC8263473.
    Citations: 11     Fields:    Translation:HumansPHPublic Health
  32. Li J, Hojlo MA, Chennuri S, Gujral N, Paterson HL, Shefchek KA, Genetti CA, Cohn EL, Sewalk KC, Garvey EA, Buttermore ED, Anderson NC, Beggs AH, Agrawal PB, Brownstein JS, Haendel MA, Holm IA, Gonzalez-Heydrich J, Brownstein CA. Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study. J Med Internet Res. 2021 03 16; 23(3):e21023. PMID: 33724192.
    Citations:    Fields:    Translation:Humans
  33. Morton SU, Sefton CR, Zhang H, Dai M, Turner DL, Uhler MD, Agrawal PB. microRNA-mRNA Profile of Skeletal Muscle Differentiation and Relevance to Congenital Myotonic Dystrophy. Int J Mol Sci. 2021 Mar 07; 22(5). PMID: 33799993.
    Citations: 1     Fields:    Translation:HumansAnimalsCells
  34. Harris HK, Nakayama T, Lai J, Zhao B, Argyrou N, Gubbels CS, Soucy A, Genetti CA, Suslovitch V, Rodan LH, Tiller GE, Lesca G, Gripp KW, Asadollahi R, Hamosh A, Applegate CD, Turnpenny PD, Simon MEH, Volker-Touw CML, Gassen KLIV, Binsbergen EV, Pfundt R, Gardeitchik T, Vries BBA, Immken LL, Buchanan C, Willing M, Toler TL, Fassi E, Baker L, Vansenne F, Wang X, Ambrus JL, Fannemel M, Posey JE, Agolini E, Novelli A, Rauch A, Boonsawat P, Fagerberg CR, Larsen MJ, Kibaek M, Labalme A, Poisson A, Payne KK, Walsh LE, Aldinger KA, Balciuniene J, Skraban C, Gray C, Murrell J, Bupp CP, Pascolini G, Grammatico P, Broly M, Küry S, Nizon M, Rasool IG, Zahoor MY, Kraus C, Reis A, Iqbal M, Uguen K, Audebert-Bellanger S, Ferec C, Redon S, Baker J, Wu Y, Zampino G, Syrbe S, Brosse I, Jamra RA, Dobyns WB, Cohen LL, Blomhoff A, Mignot C, Keren B, Courtin T, Agrawal PB, Beggs AH, Yu TW. Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. Genet Med. 2021 06; 23(6):1028-1040. PMID: 33658631; PMCID: PMC9472083.
    Citations: 4     Fields:    Translation:Humans
  35. Luo S, Li Q, Lin J, Murphy Q, Marty I, Zhang Y, Kazerounian S, Agrawal PB. SPEG binds with desmin and its deficiency causes defects in triad and focal adhesion proteins. Hum Mol Genet. 2021 02 25; 29(24):3882-3891. PMID: 33355670.
    Citations: 2     Fields:    Translation:AnimalsCells
  36. Brownstein CA, Smith RS, Rodan LH, Gorman MP, Hojlo MA, Garvey EA, Li J, Cabral K, Bowen JJ, Rao AS, Genetti CA, Carroll D, Deaso EA, Agrawal PB, Rosenfeld JA, Bi W, Howe J, Stavropoulos DJ, Hansen AW, Hamoda HM, Pinard F, Caracansi A, Walsh CA, D'Angelo EJ, Beggs AH, Zarrei M, Gibbs RA, Scherer SW, Glahn DC, Gonzalez-Heydrich J. RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes. Mol Psychiatry. 2021 05; 26(5):1706-1718. PMID: 33597717; PMCID: PMC8159744.
    Citations: 5     Fields:    Translation:Humans
  37. Zhang YJ, Jimenez L, Azova S, Kremen J, Chan YM, Elhusseiny AM, Saeed H, Goldsmith J, Al-Ibraheemi A, O'Connell AE, Kovbasnjuk O, Rodan L, Agrawal PB, Thiagarajah JR. Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesis. Eur J Hum Genet. 2021 06; 29(6):998-1007. PMID: 33526876; PMCID: PMC8187348.
    Citations: 2     Fields:    Translation:Humans
  38. Sterling N, Duncan AR, Park R, Koolen DA, Shi J, Cho SH, Benke PJ, Grant PE, Genetti CA, VanNoy GE, Juusola J, McWalter K, Parboosingh JS, Lamont RE, Bernier FP, Smith C, Harris DJ, Stegmann APA, Innes AM, Kim S, Agrawal PB. De novo variants in MPP5 cause global developmental delay and behavioral changes. Hum Mol Genet. 2020 12 18; 29(20):3388-3401. PMID: 33073849.
    Citations: 2     Fields:    Translation:HumansAnimals
  39. Tremblay-Laganière C, Kaiyrzhanov R, Maroofian R, Nguyen TTM, Salayev K, Chilton IT, Chung WK, Madden JA, Phornphutkul C, Agrawal PB, Houlden H, Campeau PM. PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations. Clin Genet. 2021 02; 99(2):313-317. PMID: 33156547; PMCID: PMC7839508.
    Citations: 2     Fields:    Translation:Humans
  40. Duncan AR, Vitobello A, Collins SC, Vancollie VE, Lelliott CJ, Rodan L, Shi J, Seman AR, Agolini E, Novelli A, Prontera P, Guillen Sacoto MJ, Santiago-Sim T, Trimouille A, Goizet C, Nizon M, Bruel AL, Philippe C, Grant PE, Wojcik MH, Stoler J, Genetti CA, van Dooren MF, Maas SM, Alders M, Faivre L, Sorlin A, Yoon G, Yalcin B, Agrawal PB. Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects. Am J Hum Genet. 2020 12 03; 107(6):1170-1177. PMID: 33232677.
    Citations: 1     Fields:    Translation:HumansAnimalsCells
  41. Dyment DA, O'Donnell-Luria A, Agrawal PB, Coban Akdemir Z, Aleck KA, Antaki D, Al Sharhan H, Au PB, Aydin H, Beggs AH, Bilguvar K, Boerwinkle E, Brand H, Brownstein CA, Buyske S, Chodirker B, Choi J, Chudley AE, Clericuzio CL, Cox GF, Curry C, de Boer E, de Vries BBA, Dunn K, Dutmer CM, England EM, Fahrner JA, Geckinli BB, Genetti CA, Gezdirici A, Gibson WT, Gleeson JG, Greenberg CR, Hall A, Hamosh A, Hartley T, Jhangiani SN, Karaca E, Kernohan K, Lauzon JL, Lewis MES, Lowry RB, López-Giráldez F, Matise TC, McEvoy-Venneri J, McInnes B, Mhanni A, Garcia Minaur S, Moilanen J, Nguyen A, Nowaczyk MJM, Posey JE, Õunap K, Pehlivan D, Pajusalu S, Penney LS, Poterba T, Prontera P, Doriqui MJR, Sawyer SL, Sobreira N, Stanley V, Torun D, Wargowski D, Witmer PD, Wong I, Xing J, Zaki MS, Zhang Y, Boycott KM, Bamshad MJ, Nickerson DA, Blue EE, Innes AM. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Am J Med Genet A. 2021 01; 185(1):119-133. PMID: 33098347.
    Citations: 3     Fields:    Translation:Humans
  42. Verberne EA, Goh S, England J, van Ginkel M, Rafael-Croes L, Maas S, Polstra A, Zarate YA, Bosanko KA, Pechter KB, Bedoukian E, Izumi K, Chaudhry A, Robin NH, Boothe M, Lippa NC, Aggarwal V, De Vivo DC, Lehman A, Study C, Stockler S, Bruel AL, Isidor B, Lemons J, Rodriguez-Buritica DF, Richmond CM, Stark Z, Agrawal PB, Kooy RF, Meuwissen MEC, Koolen DA, Pfundt R, Lieden A, Anderlid BM, Glatz D, Mannens MMAM, Bakshi M, Mallette FA, van Haelst MM, Campeau PM. JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome. Genet Med. 2021 02; 23(2):374-383. PMID: 33077894.
    Citations:    Fields:    Translation:Humans
  43. D'Gama AM, England E, Madden JA, Shi J, Chao KR, Wojcik MH, Torres AR, Tan WH, Berry GT, Prabhu SP, Agrawal PB. Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis. Am J Med Genet A. 2021 01; 185(1):203-207. PMID: 33037779.
    Citations: 1     Fields:    Translation:HumansCells
  44. Wojcik MH, Agrawal PB. Deciphering congenital anomalies for the next generation. Cold Spring Harb Mol Case Stud. 2020 10; 6(5). PMID: 32826208.
    Citations:    Fields:    Translation:Humans
  45. Ebrahimi-Fakhari D, Teinert J, Behne R, Wimmer M, D'Amore A, Eberhardt K, Brechmann B, Ziegler M, Jensen DM, Nagabhyrava P, Geisel G, Carmody E, Shamshad U, Dies KA, Yuskaitis CJ, Salussolia CL, Ebrahimi-Fakhari D, Pearson TS, Saffari A, Ziegler A, Kölker S, Volkmann J, Wiesener A, Bearden DR, Lakhani S, Segal D, Udwadia-Hegde A, Martinuzzi A, Hirst J, Perlman S, Takiyama Y, Xiromerisiou G, Vill K, Walker WO, Shukla A, Dubey Gupta R, Dahl N, Aksoy A, Verhelst H, Delgado MR, Kremlikova Pourova R, Sadek AA, Elkhateeb NM, Blumkin L, Brea-Fernández AJ, Dacruz-Álvarez D, Smol T, Ghoumid J, Miguel D, Heine C, Schlump JU, Langen H, Baets J, Bulk S, Darvish H, Bakhtiari S, Kruer MC, Lim-Melia E, Aydinli N, Alanay Y, El-Rashidy O, Nampoothiri S, Patel C, Beetz C, Bauer P, Yoon G, Guillot M, Miller SP, Bourinaris T, Houlden H, Robelin L, Anheim M, Alamri AS, Mahmoud AAH, Inaloo S, Habibzadeh P, Faghihi MA, Jansen AC, Brock S, Roubertie A, Darras BT, Agrawal PB, Santorelli FM, Gleeson J, Zaki MS, Sheikh SI, Bennett JT, Sahin M. Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. Brain. 2020 10 01; 143(10):2929-2944. PMID: 32979048; PMCID: PMC7780481.
    Citations: 12     Fields:    Translation:Humans
  46. Li Q, Lin J, Rosen SM, Zhang T, Kazerounian S, Luo S, Agrawal PB. Striated Preferentially Expressed Protein Kinase (SPEG)-Deficient Skeletal Muscles Display Fewer Satellite Cells with Reduced Proliferation and Delayed Differentiation. Am J Pathol. 2020 12; 190(12):2453-2463. PMID: 32919980; PMCID: PMC7734599.
    Citations: 2     Fields:    Translation:AnimalsCells
  47. Williams N, Radia T, Harman K, Agrawal P, Cook J, Gupta A. COVID-19 Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in children and adolescents: a systematic review of critically unwell children and the association with underlying comorbidities. Eur J Pediatr. 2021 Mar; 180(3):689-697. PMID: 32914200; PMCID: PMC7483054.
    Citations: 42     Fields:    Translation:Humans
  48. Radia T, Williams N, Agrawal P, Harman K, Weale J, Cook J, Gupta A. Multi-system inflammatory syndrome in children & adolescents (MIS-C): A systematic review of clinical features and presentation. Paediatr Respir Rev. 2021 Jun; 38:51-57. PMID: 32891582; PMCID: PMC7417920.
    Citations: 114     Fields:    Translation:Humans
  49. Dombrowski ND, Li Y, Zhao CX, Agrawal PB, Rahbar R. Familial and genetic factors in laryngeal cleft: Have we learned anything? Int J Pediatr Otorhinolaryngol. 2020 Nov; 138:110283. PMID: 32771712.
    Citations:    Fields:    Translation:Humans
  50. Rosen SM, Joshi M, Hitt T, Beggs AH, Agrawal PB. Knockin mouse model of the human CFL2 p.A35T mutation results in a unique splicing defect and severe myopathy phenotype. Hum Mol Genet. 2020 07 29; 29(12):1996-2003. PMID: 32160286.
    Citations: 1     Fields:    Translation:HumansAnimals
  51. Rockowitz S, LeCompte N, Carmack M, Quitadamo A, Wang L, Park M, Knight D, Sexton E, Smith L, Sheidley B, Field M, Holm IA, Brownstein CA, Agrawal PB, Kornetsky S, Poduri A, Snapper SB, Beggs AH, Yu TW, Williams DA, Sliz P. Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ Genom Med. 2020 Jul 06; 5(1):29. PMID: 33574273.
    Citations:    
  52. Rockowitz S, LeCompte N, Carmack M, Quitadamo A, Wang L, Park M, Knight D, Sexton E, Smith L, Sheidley B, Field M, Holm IA, Brownstein CA, Agrawal PB, Kornetsky S, Poduri A, Snapper SB, Beggs AH, Yu TW, Williams DA, Sliz P. Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ Genom Med. 2020; 5:29. PMID: 32655885.
    Citations: 9     
  53. VanNoy GE, Wojcik MH, Genetti CA, Mullen TE, Agrawal PB, Stein DR. Reconsidering Genetic Testing for Neonatal Polycystic Kidney Disease. Kidney Int Rep. 2020 Aug; 5(8):1316-1319. PMID: 32775833; PMCID: PMC7403496.
    Citations: 1     
  54. Morton SU, Agarwal R, Madden JA, Genetti CA, Brownstein CA, López-Giráldez F, Choi J, Seidman CE, Seidman JG, Lyon GJ, Agrawal PB. Congenital Heart Defects Due to TAF1 Missense Variants. Circ Genom Precis Med. 2020 06; 13(3):e002843. PMID: 32396742; PMCID: PMC7329268.
    Citations: 2     Fields:    Translation:Humans
  55. Kummeling J, Stremmelaar DE, Raun N, Reijnders MRF, Willemsen MH, Ruiterkamp-Versteeg M, Schepens M, Man CCO, Gilissen C, Cho MT, McWalter K, Sinnema M, Wheless JW, Simon MEH, Genetti CA, Casey AM, Terhal PA, van der Smagt JJ, van Gassen KLI, Joset P, Bahr A, Steindl K, Rauch A, Keller E, Raas-Rothschild A, Koolen DA, Agrawal PB, Hoffman TL, Powell-Hamilton NN, Thiffault I, Engleman K, Zhou D, Bodamer O, Hoefele J, Riedhammer KM, Schwaibold EMC, Tasic V, Schubert D, Top D, Pfundt R, Higgs MR, Kramer JM, Kleefstra T. Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome. Mol Psychiatry. 2021 06; 26(6):2013-2024. PMID: 32346159.
    Citations: 8     Fields:    Translation:HumansAnimals
  56. Beam K, Wojcik MH, Agrawal PB, Smithers C, Estroff J. Prenatal Diagnosis of a Ventral Abdominal Wall Defect. Neoreviews. 2020 04; 21(4):e286-e292. PMID: 32238493.
    Citations:    Fields:    Translation:Humans
  57. Mao D, Reuter CM, Ruzhnikov MRZ, Beck AE, Farrow EG, Emrick LT, Rosenfeld JA, Mackenzie KM, Robak L, Wheeler MT, Burrage LC, Jain M, Liu P, Calame D, Küry S, Sillesen M, Schmitz-Abe K, Tonduti D, Spaccini L, Iascone M, Genetti CA, Koenig MK, Graf M, Tran A, Alejandro M, Lee BH, Thiffault I, Agrawal PB, Bernstein JA, Bellen HJ, Chao HT. De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. Am J Hum Genet. 2020 04 02; 106(4):570-583. PMID: 32197074.
    Citations: 15     Fields:    Translation:Humans
  58. Li L, Ghorbani M, Weisz-Hubshman M, Rousseau J, Thiffault I, Schnur RE, Breen C, Oegema R, Weiss MM, Waisfisz Q, Welner S, Kingston H, Hills JA, Boon EM, Basel-Salmon L, Konen O, Goldberg-Stern H, Bazak L, Tzur S, Jin J, Bi X, Bruccoleri M, McWalter K, Cho MT, Scarano M, Schaefer GB, Brooks SS, Hughes SS, van Gassen KLI, van Hagen JM, Pandita TK, Agrawal PB, Campeau PM, Yang XJ. Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability. J Clin Invest. 2020 03 02; 130(3):1431-1445. PMID: 31794431; PMCID: PMC7269600.
    Citations: 11     Fields:    Translation:HumansAnimalsCells
  59. Wojcik MH, Reimers R, Poorvu T, Agrawal PB. Genetic diagnosis in the fetus. J Perinatol. 2020 07; 40(7):997-1006. PMID: 32094481; PMCID: PMC7319864.
    Citations: 1     Fields:    Translation:Humans
  60. D'Gama AM, Brucker WJ, Zhang T, Gubbels CS, Ferdinandusse S, Shi J, Grant PE, VanNoy G, Genetti CA, Juusola J, Yu TW, Kritzer A, Agrawal PB. A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing. Am J Med Genet A. 2020 04; 182(4):780-784. PMID: 32022391.
    Citations: 1     Fields:    Translation:Humans
  61. Milko LV, Chen F, Chan K, Brower AM, Agrawal PB, Beggs AH, Berg JS, Brenner SE, Holm IA, Koenig BA, Parad RB, Powell CM, Kingsmore SF. FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation. NPJ Genom Med. 2019 Dec 10; 4(1):32. PMID: 33293547.
    Citations:    
  62. Milko LV, Chen F, Chan K, Brower AM, Agrawal PB, Beggs AH, Berg JS, Brenner SE, Holm IA, Koenig BA, Parad RB, Powell CM, Kingsmore SF. FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation. NPJ Genom Med. 2019; 4:32. PMID: 31839987.
    Citations: 3     
  63. Gubbels CS, VanNoy GE, Madden JA, Copenheaver D, Yang S, Wojcik MH, Gold NB, Genetti CA, Stoler J, Parad RB, Roumiantsev S, Bodamer O, Beggs AH, Juusola J, Agrawal PB, Yu TW. Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield. Genet Med. 2020 04; 22(4):736-744. PMID: 31780822; PMCID: PMC7127968.
    Citations: 26     Fields:    Translation:Humans
  64. Cheng H, Capponi S, Wakeling E, Marchi E, Li Q, Zhao M, Weng C, Stefan PG, Ahlfors H, Kleyner R, Rope A, Lumaka A, Lukusa P, Devriendt K, Vermeesch J, Posey JE, Palmer EE, Murray L, Leon E, Diaz J, Worgan L, Mallawaarachchi A, Vogt J, de Munnik SA, Dreyer L, Baynam G, Ewans L, Stark Z, Lunke S, Gonçalves AR, Soares G, Oliveira J, Fassi E, Willing M, Waugh JL, Faivre L, Riviere JB, Moutton S, Mohammed S, Payne K, Walsh L, Begtrup A, Guillen Sacoto MJ, Douglas G, Alexander N, Buckley MF, Mark PR, Adès LC, Sandaradura SA, Lupski JR, Roscioli T, Agrawal PB, Kline AD, Wang K, Timmers HTM, Lyon GJ. Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity. Hum Mutat. 2019 Oct 23. PMID: 31646703; PMCID: PMC7187541.
    Citations: 7     Fields:    
  65. Boone PM, Paterson S, Mohajeri K, Zhu W, Genetti CA, Tai DJC, Nori N, Agrawal PB, Bacino CA, Bi W, Talkowski ME, Hogan BM, Rodan LH. Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome. Am J Med Genet A. 2020 01; 182(1):189-194. PMID: 31633297.
    Citations: 6     Fields:    Translation:HumansAnimals
  66. Kim J, Hu C, Moufawad El Achkar C, Black LE, Douville J, Larson A, Pendergast MK, Goldkind SF, Lee EA, Kuniholm A, Soucy A, Vaze J, Belur NR, Fredriksen K, Stojkovska I, Tsytsykova A, Armant M, DiDonato RL, Choi J, Cornelissen L, Pereira LM, Augustine EF, Genetti CA, Dies K, Barton B, Williams L, Goodlett BD, Riley BL, Pasternak A, Berry ER, Pflock KA, Chu S, Reed C, Tyndall K, Agrawal PB, Beggs AH, Grant PE, Urion DK, Snyder RO, Waisbren SE, Poduri A, Park PJ, Patterson A, Biffi A, Mazzulli JR, Bodamer O, Berde CB, Yu TW. Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. N Engl J Med. 2019 10 24; 381(17):1644-1652. PMID: 31597037; PMCID: PMC6961983.
    Citations: 157     Fields:    Translation:Humans
  67. Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC, Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. Am J Hum Genet. 2019 Sep 05; 105(3):672-674. PMID: 31491411; PMCID: PMC6732524.
    Citations: 4     Fields:    
  68. Galambos C, Mullen MP, Shieh JT, Schwerk N, Kielt MJ, Ullmann N, Boldrini R, Stucin-Gantar I, Haass C, Bansal M, Agrawal PB, Johnson J, Peca D, Surace C, Cutrera R, Pauciulo MW, Nichols WC, Griese M, Ivy D, Abman SH, Austin ED, Danhaive O. Phenotype characterisation of TBX4 mutation and deletion carriers with neonatal and paediatric pulmonary hypertension. Eur Respir J. 2019 08; 54(2). PMID: 31151956.
    Citations: 19     Fields:    Translation:Humans
  69. Wojcik MH, Schwartz TS, Thiele KE, Paterson H, Stadelmaier R, Mullen TE, VanNoy GE, Genetti CA, Madden JA, Gubbels CS, Yu TW, Tan WH, Agrawal PB. Infant mortality: the contribution of genetic disorders. J Perinatol. 2019 12; 39(12):1611-1619. PMID: 31395954.
    Citations: 13     Fields:    Translation:Humans
  70. Meng D, Li Q, Hu X, Wang L, Tan S, Su J, Zhang Y, Sun W, Chen B, He S, Lin F, Xie B, Chen S, Agrawal PB, Luo S, Fu C. Etiology and Outcome of non-immune Hydrops Fetalis in Southern China: report of 1004 cases. Sci Rep. 2019 07 24; 9(1):10726. PMID: 31341179.
    Citations: 2     Fields:    Translation:Humans
  71. Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC, Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. Am J Hum Genet. 2019 08 01; 105(2):413-424. PMID: 31327508.
    Citations: 16     Fields:    Translation:HumansAnimalsCells
  72. Wojcik MH, Thiele K, Grant CF, Chao K, Goodrich J, O'Donnell-Luria A, Lacro RV, Tan WH, Agrawal PB. Genome Sequencing Identifies the Pathogenic Variant Missed by Prior Testing in an Infant with Marfan Syndrome. J Pediatr. 2019 10; 213:235-240. PMID: 31235381; PMCID: PMC6765408.
    Citations: 2     Fields:    Translation:Humans
  73. Karas L, Lu CY, Agrawal PB, Asgari MM. The impact of the Orphan Drug Act on Food and Drug Administration-approved therapies for rare skin diseases and skin-related cancers. J Am Acad Dermatol. 2019 09; 81(3):867-877. PMID: 31103566.
    Citations: 1     Fields:    Translation:Humans
  74. Edward HL, D'Gama AM, Wojcik MH, Brownstein CA, Kenna MA, Grant PE, Majzoub JA, Agrawal PB. A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus. Am J Med Genet A. 2019 07; 179(7):1299-1303. PMID: 31012281.
    Citations: 1     Fields:    Translation:HumansCells
  75. Schmitz-Abe K, Li Q, Rosen SM, Nori N, Madden JA, Genetti CA, Wojcik MH, Ponnaluri S, Gubbels CS, Picker JD, O'Donnell-Luria AH, Yu TW, Bodamer O, Brownstein CA, Beggs AH, Agrawal PB. Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. Eur J Hum Genet. 2019 09; 27(9):1398-1405. PMID: 30979967.
    Citations: 18     Fields:    Translation:Humans
  76. Taylor DM, Aronow BJ, Tan K, Bernt K, Salomonis N, Greene CS, Frolova A, Henrickson SE, Wells A, Pei L, Jaiswal JK, Whitsett J, Hamilton KE, MacParland SA, Kelsen J, Heuckeroth RO, Potter SS, Vella LA, Terry NA, Ghanem LR, Kennedy BC, Helbig I, Sullivan KE, Castelo-Soccio L, Kreigstein A, Herse F, Nawijn MC, Koppelman GH, Haendel M, Harris NL, Rokita JL, Zhang Y, Regev A, Rozenblatt-Rosen O, Rood JE, Tickle TL, Vento-Tormo R, Alimohamed S, Lek M, Mar JC, Loomes KM, Barrett DM, Uapinyoying P, Beggs AH, Agrawal PB, Chen YW, Muir AB, Garmire LX, Snapper SB, Nazarian J, Seeholzer SH, Fazelinia H, Singh LN, Faryabi RB, Raman P, Dawany N, Xie HM, Devkota B, Diskin SJ, Anderson SA, Rappaport EF, Peranteau W, Wikenheiser-Brokamp KA, Teichmann S, Wallace D, Peng T, Ding YY, Kim MS, Xing Y, Kong SW, Bönnemann CG, Mandl KD, White PS. The Pediatric Cell Atlas: Defining the Growth Phase of Human Development at Single-Cell Resolution. Dev Cell. 2019 04 08; 49(1):10-29. PMID: 30930166.
    Citations: 25     Fields:    Translation:Humans
  77. O'Connell AE, Gerashchenko MV, O'Donohue MF, Rosen SM, Huntzinger E, Gleeson D, Galli A, Ryder E, Cao S, Murphy Q, Kazerounian S, Morton SU, Schmitz-Abe K, Gladyshev VN, Gleizes PE, Séraphin B, Agrawal PB. Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation. PLoS Genet. 2019 02; 15(2):e1007917. PMID: 30707697; PMCID: PMC6373978.
    Citations: 5     Fields:    Translation:HumansAnimalsCells
  78. 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
  79. Ceyhan-Birsoy O, Murry JB, Machini K, Lebo MS, Yu TW, Fayer S, Genetti CA, Schwartz TS, Agrawal PB, Parad RB, Holm IA, McGuire AL, Green RC, Rehm HL, Beggs AH. Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project. Am J Hum Genet. 2019 01 03; 104(1):76-93. PMID: 30609409; PMCID: PMC6323417.
    Citations: 50     Fields:    Translation:Humans
  80. Fu C, Luo S, Zhang Y, Fan X, D'Gama AM, Zhang X, Zheng H, Su J, Li C, Luo J, Agrawal PB, Li Q, Chen S. Chromosomal microarray and whole exome sequencing identify genetic causes of congenital hypothyroidism with extra-thyroidal congenital malformations. Clin Chim Acta. 2019 Feb; 489:103-108. PMID: 30508507.
    Citations: 3     Fields:    Translation:HumansCells
  81. Qualls AE, Donkervoort S, Herkert JC, D'gama AM, Bharucha-Goebel D, Collins J, Chao KR, Foley AR, Schoots MH, Jongbloed JDH, Bönnemann CG, Agrawal PB. Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations. Muscle Nerve. 2019 03; 59(3):357-362. PMID: 30412272; PMCID: PMC7288247.
    Citations: 11     Fields:    Translation:Humans
  82. Mavros CF, Brownstein CA, Thyagrajan R, Genetti CA, Tembulkar S, Graber K, Murphy Q, Cabral K, VanNoy GE, Bainbridge M, Shi J, Agrawal PB, Beggs AH, D'Angelo E, Gonzalez-Heydrich J. De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report. BMC Med Genet. 2018 11 13; 19(1):197. PMID: 30424743; PMCID: PMC6234620.
    Citations: 3     Fields:    Translation:HumansCells
  83. Metz KA, Teng X, Coppens I, Lamb HM, Wagner BE, Rosenfeld JA, Chen X, Zhang Y, Kim HJ, Meadow ME, Wang TS, Haberlandt ED, Anderson GW, Leshinsky-Silver E, Bi W, Markello TC, Pratt M, Makhseed N, Garnica A, Danylchuk NR, Burrow TA, Jayakar P, McKnight D, Agadi S, Gbedawo H, Stanley C, Alber M, Prehl I, Peariso K, Ong MT, Mordekar SR, Parker MJ, Crooks D, Agrawal PB, Berry GT, Loddenkemper T, Yang Y, Maegawa GHB, Aouacheria A, Markle JG, Wohlschlegel JA, Hartman AL, Hardwick JM. KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect. Ann Neurol. 2018 11; 84(5):766-780. PMID: 30295347; PMCID: PMC6295419.
    Citations: 17     Fields:    Translation:HumansCells
  84. Genetti CA, Schwartz TS, Robinson JO, VanNoy GE, Petersen D, Pereira S, Fayer S, Peoples HA, Agrawal PB, Betting WN, Holm IA, McGuire AL, Waisbren SE, Yu TW, Green RC, Beggs AH, Parad RB. Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project. Genet Med. 2019 03; 21(3):622-630. PMID: 30209271; PMCID: PMC6420384.
    Citations: 19     Fields:    Translation:HumansPHPublic Health
  85. Wojcik MH, Okada K, Prabhu SP, Nowakowski DW, Ramsey K, Balak C, Rangasamy S, Brownstein CA, Schmitz-Abe K, Cohen JS, Fatemi A, Shi J, Grant EP, Narayanan V, Ho HH, Agrawal PB. De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy. Am J Med Genet A. 2018 12; 176(12):2623-2629. PMID: 30151950; PMCID: PMC6481602.
    Citations: 5     Fields:    Translation:HumansAnimalsCells
  86. Lessel D, Gehbauer C, Bramswig NC, Schluth-Bolard C, Venkataramanappa S, van Gassen KLI, Hempel M, Haack TB, Baresic A, Genetti CA, Funari MFA, Lessel I, Kuhlmann L, Simon R, Liu P, Denecke J, Kuechler A, de Kruijff I, Shoukier M, Lek M, Mullen T, Lüdecke HJ, Lerario AM, Kobbe R, Krieger T, Demeer B, Lebrun M, Keren B, Nava C, Buratti J, Afenjar A, Shinawi M, Guillen Sacoto MJ, Gauthier J, Hamdan FF, Laberge AM, Campeau PM, Louie RJ, Cathey SS, Prinz I, Jorge AAL, Terhal PA, Lenhard B, Wieczorek D, Strom TM, Agrawal PB, Britsch S, Tolosa E, Kubisch C. BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells. Brain. 2018 08 01; 141(8):2299-2311. PMID: 29985992; PMCID: PMC6061686.
    Citations: 24     Fields:    Translation:HumansAnimalsCells
  87. Murry JB, Machini K, Ceyhan-Birsoy O, Kritzer A, Krier JB, Lebo MS, Fayer S, Genetti CA, VanNoy GE, Yu TW, Agrawal PB, Parad RB, Holm IA, McGuire AL, Green RC, Beggs AH, Rehm HL. Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report. Cold Spring Harb Mol Case Stud. 2018 08; 4(4). PMID: 29728376.
    Citations: 3     Fields:    Translation:HumansCellsPHPublic Health
  88. Shu C, Huang H, Xu Y, Rota M, Sorrentino A, Peng Y, Padera RF, Huntoon V, Agrawal PB, Liu X, Perrella MA. Pressure Overload in Mice With Haploinsufficiency of Striated Preferentially Expressed Gene Leads to Decompensated Heart Failure. Front Physiol. 2018; 9:863. PMID: 30042693; PMCID: PMC6048438.
    Citations: 3     
  89. Holm IA, Agrawal PB, Ceyhan-Birsoy O, Christensen KD, Fayer S, Frankel LA, Genetti CA, Krier JB, LaMay RC, Levy HL, McGuire AL, Parad RB, Park PJ, Pereira S, Rehm HL, Schwartz TS, Waisbren SE, Yu TW, Green RC, Beggs AH. The BabySeq project: implementing genomic sequencing in newborns. BMC Pediatr. 2018 07 09; 18(1):225. PMID: 29986673.
    Citations: 37     Fields:    Translation:HumansPHPublic Health
  90. Schwartz TS, Wojcik MH, Pelletier RC, Edward HL, Picker JD, Holm IA, Towne MC, Beggs AH, Agrawal PB. Expanding the phenotypic spectrum associated with OPHN1 variants. Eur J Med Genet. 2019 Feb; 62(2):137-143. PMID: 29960046; PMCID: PMC6310103.
    Citations: 3     Fields:    Translation:Humans
  91. Torres A, Brownstein CA, Tembulkar SK, Graber K, Genetti C, Kleiman RJ, Sweadner KJ, Mavros C, Liu KX, Smedemark-Margulies N, Maski K, Yang E, Agrawal PB, Shi J, Beggs AH, D'Angelo E, Lincoln SH, Carroll D, Dedeoglu F, Gahl WA, Biggs CM, Swoboda KJ, Berry GT, Gonzalez-Heydrich J. De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome. Mol Genet Metab Rep. 2018 Sep; 16:23-29. PMID: 29922587; PMCID: PMC6005789.
    Citations: 4     
  92. O'Connell AE, Zhou F, Shah MS, Murphy Q, Rickner H, Kelsen J, Boyle J, Doyle JJ, Gangwani B, Thiagarajah JR, Kamin DS, Goldsmith JD, Richmond C, Breault DT, Agrawal PB. Neonatal-Onset Chronic Diarrhea Caused by Homozygous Nonsense WNT2B Mutations. Am J Hum Genet. 2018 07 05; 103(1):131-137. PMID: 29909964.
    Citations: 4     Fields:    Translation:HumansCells
  93. Fan X, Xie B, Zou J, Luo J, Qin Z, D'Gama AM, Shi J, Yi S, Yang Q, Wang J, Luo S, Chen S, Agrawal PB, Li Q, Shen Y. Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency. Mol Genet Metab Rep. 2018 Sep; 16:15-19. PMID: 29988809; PMCID: PMC6031868.
    Citations: 8     
  94. Huntoon V, Widrick JJ, Sanchez C, Rosen SM, Kutchukian C, Cao S, Pierson CR, Liu X, Perrella MA, Beggs AH, Jacquemond V, Agrawal PB. SPEG-deficient skeletal muscles exhibit abnormal triad and defective calcium handling. Hum Mol Genet. 2018 05 01; 27(9):1608-1617. PMID: 29474540; PMCID: PMC5905626.
    Citations: 11     Fields:    Translation:AnimalsCells
  95. Katwa U, D'Gama AM, Qualls AE, Donovan LM, Heffernan J, Shi J, Agrawal PB. Atypical presentations associated with non-polyalanine repeat PHOX2B mutations. Am J Med Genet A. 2018 07; 176(7):1627-1631. PMID: 29704303; PMCID: PMC6117218.
    Citations: 2     Fields:    Translation:Humans
  96. Wojcik MH, Schwartz TS, Yamin I, Edward HL, Genetti CA, Towne MC, Agrawal PB. Genetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunities. Genet Med. 2018 11; 20(11):1396-1404. PMID: 29790870; PMCID: PMC6185816.
    Citations: 14     Fields:    Translation:Humans
  97. Rodan LH, Hauptman M, D'Gama AM, Qualls AE, Cao S, Tuschl K, Al-Jasmi F, Hertecant J, Hayflick SJ, Wessling-Resnick M, Yang ET, Berry GT, Gropman A, Woolf AD, Agrawal PB. Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies. Mol Genet Metab. 2018 06; 124(2):161-167. PMID: 29685658; PMCID: PMC5976541.
    Citations: 16     Fields:    Translation:Humans
  98. Quiñones-Pérez B, VanNoy GE, Towne MC, Shen Y, Singh MN, Agrawal PB, Smith SE. Three-generation family with novel contiguous gene deletion on chromosome 2p22 associated with thoracic aortic aneurysm syndrome. Am J Med Genet A. 2018 03; 176(3):560-569. PMID: 29350460.
    Citations: 8     Fields:    Translation:HumansCells
  99. Sacharow SJ, Dudenhausen EE, Lomelino CL, Rodan L, El Achkar CM, Olson HE, Genetti CA, Agrawal PB, McKenna R, Kilberg MS. Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency. Mol Genet Metab. 2018 03; 123(3):317-325. PMID: 29279279; PMCID: PMC5832599.
    Citations: 5     Fields:    Translation:HumansCells
  100. Agrawal PB, Wang R, Li HL, Schmitz-Abe K, Simone-Roach C, Chen J, Shi J, Louie T, Sheng S, Towne MC, Brainson CF, Matthay MA, Kim CF, Bamshad M, Emond MJ, Gerard NP, Kleyman TR, Gerard C. The Epithelial Sodium Channel Is a Modifier of the Long-Term Nonprogressive Phenotype Associated with F508del CFTR Mutations. Am J Respir Cell Mol Biol. 2017 12; 57(6):711-720. PMID: 28708422; PMCID: PMC5765421.
    Citations: 16     Fields:    Translation:HumansAnimalsCells
  101. Küry S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denommé-Pichon AS, Lesca G, Sellars EA, Berg J, Carré W, Busk ØL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla ØL, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers LELM, Boisseau P, Vincent M, Grabrucker AM, Dubourg C, Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogné B, Petrovski S, Retterer K, Eichler EE, Rosenfeld JA, Agrawal PB, Bézieau S, Odent S, Elgersma Y, Mercier S. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. Am J Hum Genet. 2017 Nov 02; 101(5):768-788. PMID: 29100089; PMCID: PMC5673671.
    Citations: 53     Fields:    Translation:HumansAnimalsCells
  102. Lo MS, Towne M, VanNoy GE, Brownstein CA, Lane AA, Chatila TA, Agrawal PB. Monogenic Hashimoto thyroiditis associated with a variant in the thyroglobulin (TG) gene. J Autoimmun. 2018 01; 86:116-119. PMID: 28942902.
    Citations: 5     Fields:    Translation:HumansCells
  103. Cao S, Smith LL, Padilla-Lopez SR, Guida BS, Blume E, Shi J, Morton SU, Brownstein CA, Beggs AH, Kruer MC, Agrawal PB. Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death. Hum Mol Genet. 2017 09 15; 26(18):3545-3552. PMID: 28911200; PMCID: PMC5886049.
    Citations: 10     Fields:    Translation:HumansAnimals
  104. Edvardson S, Nicolae CM, Agrawal PB, Mignot C, Payne K, Prasad AN, Prasad C, Sadler L, Nava C, Mullen TE, Begtrup A, Baskin B, Powis Z, Shaag A, Keren B, Moldovan GL, Elpeleg O. Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood. Am J Hum Genet. 2017 Aug 03; 101(2):267-273. PMID: 28777933; PMCID: PMC5544390.
    Citations: 11     Fields:    Translation:HumansCells
  105. Wojcik MH, Wierenga KJ, Rodan LH, Sahai I, Ferdinandusse S, Genetti CA, Towne MC, Peake RWA, James PM, Beggs AH, Brownstein CA, Berry GT, Agrawal PB. Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals. JIMD Rep. 2018; 39:45-54. PMID: 28726122; PMCID: PMC5953889.
    Citations: 7     
  106. Guerriero RM, Patel AA, Walsh B, Baumer FM, Shah AS, Peters JM, Rodan LH, Agrawal PB, Pearl PL, Takeoka M. Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency. Pediatr Neurol. 2017 Nov; 76:47-53. PMID: 28985901; PMCID: PMC6008785.
    Citations: 5     Fields:    Translation:Humans
  107. Depienne C, Nava C, Keren B, Heide S, Rastetter A, Passemard S, Chantot-Bastaraud S, Moutard ML, Agrawal PB, VanNoy G, Stoler JM, Amor DJ, Billette de Villemeur T, Doummar D, Alby C, Cormier-Daire V, Garel C, Marzin P, Scheidecker S, de Saint-Martin A, Hirsch E, Korff C, Bottani A, Faivre L, Verloes A, Orzechowski C, Burglen L, Leheup B, Roume J, Andrieux J, Sheth F, Datar C, Parker MJ, Pasquier L, Odent S, Naudion S, Delrue MA, Le Caignec C, Vincent M, Isidor B, Renaldo F, Stewart F, Toutain A, Koehler U, Häckl B, von Stülpnagel C, Kluger G, Møller RS, Pal D, Jonson T, Soller M, Verbeek NE, van Haelst MM, de Kovel C, Koeleman B, Monroe G, van Haaften G, Attié-Bitach T, Boutaud L, Héron D, Mignot C. Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU. Hum Genet. 2017 04; 136(4):463-479. PMID: 28283832.
    Citations: 28     Fields:    Translation:HumansCells
  108. Morton SU, Prabhu SP, Lidov HGW, Shi J, Anselm I, Brownstein CA, Bainbridge MN, Beggs AH, Vargas SO, Agrawal PB. AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant. Cold Spring Harb Mol Case Stud. 2017 03; 3(2):a001560. PMID: 28299359.
    Citations: 16     Fields:    Translation:HumansCells
  109. Mehta P, Küspert M, Bale T, Brownstein CA, Towne MC, De Girolami U, Shi J, Beggs AH, Darras BT, Wegner M, Piao X, Agrawal PB. Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. Muscle Nerve. 2017 05; 55(5):761-765. PMID: 27668699; PMCID: PMC5366284.
    Citations: 8     Fields:    Translation:HumansCells
  110. Berg JS, Agrawal PB, Bailey DB, Beggs AH, Brenner SE, Brower AM, Cakici JA, Ceyhan-Birsoy O, Chan K, Chen F, Currier RJ, Dukhovny D, Green RC, Harris-Wai J, Holm IA, Iglesias B, Joseph G, Kingsmore SF, Koenig BA, Kwok PY, Lantos J, Leeder SJ, Lewis MA, McGuire AL, Milko LV, Mooney SD, Parad RB, Pereira S, Petrikin J, Powell BC, Powell CM, Puck JM, Rehm HL, Risch N, Roche M, Shieh JT, Veeraraghavan N, Watson MS, Willig L, Yu TW, Urv T, Wise AL. Newborn Sequencing in Genomic Medicine and Public Health. Pediatrics. 2017 Feb; 139(2). PMID: 28096516; PMCID: PMC5260149.
    Citations: 64     Fields:    Translation:HumansPHPublic Health
  111. Ceyhan-Birsoy O, Machini K, Lebo MS, Yu TW, Agrawal PB, Parad RB, Holm IA, McGuire A, Green RC, Beggs AH, Rehm HL. A curated gene list for reporting results of newborn genomic sequencing. Genet Med. 2017 07; 19(7):809-818. PMID: 28079900; PMCID: PMC5507765.
    Citations: 34     Fields:    Translation:HumansCells
  112. Morton SU, Neilan EG, Peake RWA, Shi J, Schmitz-Abe K, Towne M, Markianos K, Prabhu SP, Agrawal PB. Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants. JIMD Rep. 2017; 35:7-15. PMID: 27858371; PMCID: PMC5585110.
    Citations: 3     
  113. Bairdain S, Zurakowski D, Vargas SO, Stenquist N, McDonald M, Towne MC, Miller DT, Jennings RW, Kantor DB, Agrawal PB. Long-Gap Esophageal Atresia Is a Unique Entity within the Esophageal Atresia Defect Spectrum. Neonatology. 2017; 111(2):140-144. PMID: 27756070.
    Citations: 8     Fields:    Translation:Humans
  114. Smedemark-Margulies N, Brownstein CA, Vargas S, Tembulkar SK, Towne MC, Shi J, Gonzalez-Cuevas E, Liu KX, Bilguvar K, Kleiman RJ, Han MJ, Torres A, Berry GT, Yu TW, Beggs AH, Agrawal PB, Gonzalez-Heydrich J. A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia. Cold Spring Harb Mol Case Stud. 2016 Sep; 2(5):a001008. PMID: 27626066.
    Citations: 19     Fields:    
  115. Palmer S, Towne MC, Pearl PL, Pelletier RC, Genetti CA, Shi J, Beggs AH, Agrawal PB, Brownstein CA. SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures. Pediatr Neurol. 2016 11; 64:77-79. PMID: 27600546; PMCID: PMC5223550.
    Citations: 13     Fields:    Translation:Humans
  116. Lacy JN, Ulirsch JC, Grace RF, Towne MC, Hale J, Mohandas N, Lux SE, Agrawal PB, Sankaran VG. Exome sequencing results in successful diagnosis and treatment of a severe congenital anemia. Cold Spring Harb Mol Case Stud. 2016 Jul; 2(4):a000885. PMID: 27551681.
    Citations: 7     Fields:    
  117. Joshi M, Anselm I, Shi J, Bale TA, Towne M, Schmitz-Abe K, Crowley L, Giani FC, Kazerounian S, Markianos K, Lidov HG, Folkerth R, Sankaran VG, Agrawal PB. Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-a protein (PMPCA) cause a severe mitochondrial disease. Cold Spring Harb Mol Case Stud. 2016 May; 2(3):a000786. PMID: 27148589.
    Citations: 14     Fields:    
  118. Brownstein CA, Beggs AH, Rodan L, Shi J, Towne MC, Pelletier R, Cao S, Rosenberg PA, Urion DK, Picker J, Tan WH, Agrawal PB. Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations. Neurogenetics. 2016 Jan; 17(1):11-6. PMID: 26395884.
    Citations: 14     Fields:    Translation:Humans
  119. Morton SU, Joshi M, Savic T, Beggs AH, Agrawal PB. Skeletal muscle microRNA and messenger RNA profiling in cofilin-2 deficient mice reveals cell cycle dysregulation hindering muscle regeneration. PLoS One. 2015; 10(4):e0123829. PMID: 25874796.
    Citations: 2     Fields:    Translation:Animals
  120. Subramanian K, Gianni D, Balla C, Assenza GE, Joshi M, Semigran MJ, Macgillivray TE, Van Eyk JE, Agnetti G, Paolocci N, Bamburg JR, Agrawal PB, Del Monte F. Cofilin-2 phosphorylation and sequestration in myocardial aggregates: novel pathogenetic mechanisms for idiopathic dilated cardiomyopathy. J Am Coll Cardiol. 2015 Mar 31; 65(12):1199-1214. PMID: 25814227; PMCID: PMC4379451.
    Citations: 35     Fields:    Translation:HumansAnimalsCells
  121. Thaker VV, Esteves KM, Towne MC, Brownstein CA, James PM, Crowley L, Hirschhorn JN, Elsea SH, Beggs AH, Picker J, Agrawal PB. Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome. J Clin Endocrinol Metab. 2015 May; 100(5):1723-30. PMID: 25781356; PMCID: PMC4422892.
    Citations: 11     Fields:    Translation:Humans
  122. Agrawal PB, Joshi M, Marinakis NS, Schmitz-Abe K, Ciarlini PD, Sargent JC, Markianos K, De Girolami U, Chad DA, Beggs AH. Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings. JAMA Neurol. 2014 Nov; 71(11):1413-20. PMID: 25264603; PMCID: PMC4227917.
    Citations: 13     Fields:    Translation:Humans
  123. Agrawal PB, Pierson CR, Joshi M, Liu X, Ravenscroft G, Moghadaszadeh B, Talabere T, Viola M, Swanson LC, Haliloglu G, Talim B, Yau KS, Allcock RJ, Laing NG, Perrella MA, Beggs AH. SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. Am J Hum Genet. 2014 Aug 07; 95(2):218-26. PMID: 25087613; PMCID: PMC4129406.
    Citations: 64     Fields:    Translation:HumansAnimalsCells
  124. Leeman KT, Dobson L, Towne M, Dukhovny D, Joshi M, Stoler J, Agrawal PB. NPHP3 mutations are associated with neonatal onset multiorgan polycystic disease in two siblings. J Perinatol. 2014 May; 34(5):410-1. PMID: 24776604.
    Citations: 1     Fields:    Translation:Humans
  125. Joshi M, Eagan J, Desai NK, Newton SA, Towne MC, Marinakis NS, Esteves KM, De Ferranti S, Bennett MJ, McIntyre A, Beggs AH, Berry GT, Agrawal PB. A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia. Eur J Hum Genet. 2014 Oct; 22(10):1229-32. PMID: 24549054.
    Citations: 14     Fields:    Translation:Humans
  126. Sankaran VG, Joshi M, Agrawal A, Schmitz-Abe K, Towne MC, Marinakis N, Markianos K, Berry GT, Agrawal PB. Rare complete loss of function provides insight into a pleiotropic genome-wide association study locus. Blood. 2013 Nov 28; 122(23):3845-7. PMID: 24288412.
    Citations: 13     Fields:    Translation:HumansCells
  127. Brownstein CA, Towne MC, Luquette LJ, Harris DJ, Marinakis NS, Meinecke P, Kutsche K, Campeau PM, Yu TW, Margulies DM, Agrawal PB, Beggs AH. Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition. Eur J Med Genet. 2013 Dec; 56(12):678-82. PMID: 24176758.
    Citations: 37     Fields:    Translation:Humans
  128. Sankaran VG, Agrawal PB. Stimulating erythropoiesis in neonates. Am J Hematol. 2013 Nov; 88(11):930-1. PMID: 23963872.
    Citations: 1     Fields:    Translation:Humans
  129. Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, Soemedi R, Vasli N, Iannaccone ST, Shieh PB, Shur N, Dennison JM, Lawlor MW, Laporte J, Markianos K, Fairbrother WG, Granzier H, Beggs AH. Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology. 2013 Oct 01; 81(14):1205-14. PMID: 23975875; PMCID: PMC3795603.
    Citations: 70     Fields:    Translation:Humans
  130. Chandonnet CJ, Kahlon PS, Rachh P, Degrazia M, Dewitt EC, Flaherty KA, Spigel N, Packard S, Casey D, Rachwal C, Agrawal PB. Health care failure mode and effect analysis to reduce NICU line-associated bloodstream infections. Pediatrics. 2013 Jun; 131(6):e1961-9. PMID: 23690523.
    Citations: 7     Fields:    Translation:Humans
  131. Touma M, Joshi M, Connolly MC, Grant PE, Hansen AR, Khwaja O, Berry GT, Kinney HC, Poduri A, Agrawal PB. Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings. Epilepsia. 2013 May; 54(5):e81-5. PMID: 23550958.
    Citations: 21     Fields:    Translation:Humans
  132. Sonnylal S, Xu S, Jones H, Tam A, Sreeram VR, Ponticos M, Norman J, Agrawal P, Abraham D, de Crombrugghe B. Connective tissue growth factor causes EMT-like cell fate changes in vivo and in vitro. J Cell Sci. 2013 May 15; 126(Pt 10):2164-75. PMID: 23525012; PMCID: PMC3672936.
    Citations: 39     Fields:    Translation:AnimalsCells
  133. Christensen RD, Yaish HM, Leon EL, Sola-Visner MC, Agrawal PB. A de novo T73I mutation in PTPN11 in a neonate with severe and prolonged congenital thrombocytopenia and Noonan syndrome. Neonatology. 2013; 104(1):1-5. PMID: 23446178.
    Citations: 7     Fields:    Translation:HumansCells
  134. Majczenko K, Davidson AE, Camelo-Piragua S, Agrawal PB, Manfready RA, Li X, Joshi S, Xu J, Peng W, Beggs AH, Li JZ, Burmeister M, Dowling JJ. Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. Am J Hum Genet. 2012 Aug 10; 91(2):365-71. PMID: 22818856.
    Citations: 35     Fields:    Translation:HumansAnimalsCells
  135. Ockeloen CW, Gilhuis HJ, Pfundt R, Kamsteeg EJ, Agrawal PB, Beggs AH, Dara Hama-Amin A, Diekstra A, Knoers NV, Lammens M, van Alfen N. Congenital myopathy caused by a novel missense mutation in the CFL2 gene. Neuromuscul Disord. 2012 Jul; 22(7):632-9. PMID: 22560515.
    Citations: 18     Fields:    Translation:Humans
  136. Agrawal PB, Joshi M, Savic T, Chen Z, Beggs AH. Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle maintenance. Hum Mol Genet. 2012 May 15; 21(10):2341-56. PMID: 22343409.
    Citations: 40     Fields:    Translation:AnimalsCells
  137. Chiu CH, Thakuria J, Agrawal PB. Novel CHD7 and FBN1 mutations in an infant with multiple congenital anamolies. Indian J Pediatr. 2010 Feb; 77(2):208-9. PMID: 20012798.
    Citations: 1     Fields:    Translation:Humans
  138. Pierson CR, Agrawal PB, Blasko J, Beggs AH. Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy. Neuromuscul Disord. 2007 Jul; 17(7):562-8. PMID: 17537630; PMCID: PMC2043149.
    Citations: 21     Fields:    Translation:HumansCells
  139. Agrawal PB, Greenleaf RS, Tomczak KK, Lehtokari VL, Wallgren-Pettersson C, Wallefeld W, Laing NG, Darras BT, Maciver SK, Dormitzer PR, Beggs AH. Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. Am J Hum Genet. 2007 Jan; 80(1):162-7. PMID: 17160903; PMCID: PMC1785312.
    Citations: 91     Fields:    Translation:HumansCells
  140. Pierson CR, Tomczak K, Agrawal P, Moghadaszadeh B, Beggs AH. X-linked myotubular and centronuclear myopathies. J Neuropathol Exp Neurol. 2005 Jul; 64(7):555-64. PMID: 16042307.
    Citations: 46     Fields:    Translation:Humans
  141. PB Agrawal, AH Beggs. Multiminicore Disease. GeneReviews at GeneTests. 2005.
  142. PB Agrawal, M Singh. Neonatal Necrotizing Enterocolitis: Recent Developments. Current Issues in Pediatrics edited by N. Shendurnikar and N. Thacker. 2005.
  143. Agrawal PB, Strickland CD, Midgett C, Morales A, Newburger DE, Poulos MA, Tomczak KK, Ryan MM, Iannaccone ST, Crawford TO, Laing NG, Beggs AH. Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. Ann Neurol. 2004 Jul; 56(1):86-96. PMID: 15236405.
    Citations: 40     Fields:    Translation:HumansAnimals
  144. Sethi S, Sharma M, Narang A, Aggrawal PB. Isolation Pattern and Clinical Outcome of Genital Mycoplasma in Neonates from a Tertiary Care Neonatal Unit. Journal of Tropical Pediatrics. 1999; 45:143-5.
  145. Narang A, Agrawal PB, Chakrabarti A, Kumar P. Epidemiology of systemic candidiasis in a tertiary care neonatal unit. J Trop Pediatr. 1998 04; 44(2):104-8. PMID: 9604600.
    Citations: 10     Fields:    Translation:Humans
  146. Agrawal PB, Narang A, Kumar P. Fluconazole. Indian J Pediatr. 1996 Nov-Dec; 63(6):775-80. PMID: 10830059.
    Citations: 2     Fields:    Translation:Humans
  147. Narang A, Agrawal P, Chakraborti A, Kumar P. Fluconazole in the management of neonatal systemic candidiasis. Indian Pediatr. 1996 Oct; 33(10):823-6. PMID: 9057379.
    Citations: 1     Fields:    Translation:Humans
  148. Agrawal PB, Shendurnikar N, Shastri NJ. Host factors and pneumonia in hospitalised children. J Indian Med Assoc. 1995 Jul; 93(7):271-2. PMID: 8576592.
    Citations: 5     Fields:    Translation:Humans
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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.