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Paolo Moretti
( out of 111 reviews )

Paolo Moretti, MD

Languages spoken: English, Italian, Spanish, French

Clinical Locations

Imaging & Neurosciences Center

Salt Lake City
801-585-7575
  • Specialties

    Patient Rating

    4.9 /5
    ( out of 111 reviews )

    The patient rating score is an average of all responses on our patient experience survey. The rating averages scores for all questions about care from our providers.

    The scale on which responses are measured is 1 to 5 with 5 being the best score.

    Patient Comments

    Patient comments are gathered from our patient experience survey and displayed in their entirety.
    Patients are de-identified for confidentiality and patient privacy.

    April 18, 2024
    CLINICAL NEUROSCIENCES CENTER

    Dr. Moretti is the only doctor in my experience who takes whatever time is required to address all of his patients' concerns. An office visit with him is unhurried and thorough. He clearly cares a great deal about his patients, and provides the best medical advice in the most friendly fashion.

    March 16, 2024
    CLINICAL NEUROSCIENCES CENTER

    As always, Dr Moretti is extraordinarily competent and helpful. He actually follows up with phone calls and updates.

    March 15, 2024
    CLINICAL NEUROSCIENCES CENTER

    Doctor Moretti is a fantastic neurologist in every way

    March 11, 2024
    CLINICAL NEUROSCIENCES CENTER

    I found Dr Moretti to be especially attentive, insightful and educational. He really hears when he listens.

    March 07, 2024
    CLINICAL NEUROSCIENCES CENTER

    Listens to your concerns. Makes you a part of the treatment.

    March 04, 2024
    CLINICAL NEUROSCIENCES CENTER

    Warm, personable, knowledgable - the ultimate prefessional.

    March 01, 2024
    CLINICAL NEUROSCIENCES CENTER

    Knowledgeable, caring, and understandable

    February 23, 2024
    CLINICAL NEUROSCIENCES CENTER

    Dr. Moretti is very caring, professional, and effective. I highly recommend him. He has been caring for me for several years and I am very pleased with his service.

    January 31, 2024
    CLINICAL NEUROSCIENCES CENTER

    The ultimate professional.

  • Board Certification and Academic Information

    Academic Departments Neurology -Primary

    Education history

    Fellowship Clinical Genetics Fellowship and Neurogenetics Research - Baylor College of Medicine Fellow
    Neurology - University of Michigan Medical Center Resident
    Internship Internal Medicine - Cabrini Medical Center Mount Sinai School of Medicine Intern
    Molecular Genetics - Saccharomyces Cerevisiae - Columbia University Postdoctoral Research Fellow
    Research Fellow Molecular Biology and Biochemistry - Cardiac and Skeletal Muscle - University of Padua Research Fellow
    Rotating Clinical Internship - Hospitals of the University of Padua School of Medicine Intern
    Professional Medical Medicine - University of Padua School of Medicine M.D.

    Selected Publications

    Journal Article

    1. Campbell JM, Ballard J, Duff K, Zorn M, Moretti P, Alexander MD, Rolston JD (2022). Balance and cognitive impairments are prevalent and correlated with age in presurgical patients with essential tremor. Clin Park Relat Disord, 6, 100134. (Read full article)
    2. Sung A, Moretti P, Shaibani A (2021). Adult-Onset Spinal Muscular Atrophy due to Mutations in the VRK1 Gene. Neurol Genet, 7(4), e599.
    3. Sung A, Moretti P, Shaibani A (2021). Adult-Onset Spinal Muscular Atrophy due to Mutations in the VRK1 Gene. Neurol Genet, 7(4), e599. (Read full article)
    4. Ferdinandusse S, McWalter K, Te Brinke H, IJlst L, Mooijer PM, Ruiter JPN, van Lint AEM, Pras-Raves M, Wever E, Millan F, Guillen Sacoto MJ, Begtrup A, Tarnopolsky M, Brady L, Ladda RL, Sell SL, Nowak CB, Douglas J, Tian C, Ulm E, Perlman S, Drack AV, Chong K, Martin N, Brault J, Brokamp E, Toro C, Gahl WA, Macnamara EF, Wolfe L, Undiagnosed Diseases Network Moretti P, Waisfisz Q, Zwijnenburg PJG, Ziegler A, Barth M, Smith R, Ellingwood S, Gaebler-Spira D, Bakhtiari S, Kruer MC, van Kampen AHC, Wanders RJA, Waterham HR, Cassiman D, Vaz FM (2021). An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids. . Genet Med, 23(4), 740-750.
    5. Studwell CM, Kelley EG, Undiagnosed Diseases Network - Moretti P, Sinsheimer JS, Palmer CGS, LeBlanc K (2021). Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice. J Genet Couns, 30(2), 439-447.
    6. Mis EK, Sega AG, Signer RH, Cartwright T, Ji W, Martinez-Agosto JA, Nelson SF, Palmer CGS, Lee H, Mitzelfelt T, Konstantino M, Undiagnosed Diseases Network Moretti P, Jeffries L, Khokha MK, Marco E, Martin MG, Lakhani SA (2021). Expansion of NEUROD2 phenotypes to include developmental delay without seizures, . Am J Med Genet A, 185(4), 1076-1080.
    7. Murdock DR, Dai H, Burrage LC, Rosenfeld JA, Ketkar S, Mller MF, Ypez VA, Gagneur J, Liu P, Chen S, Jain M, Zapata G, Bacino CA, Chao HT, Moretti P, Craigen WJ, Hanchard NA, Undiagnosed Diseases Network, Lee B (2021). Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing. 2021 Jan 4;131(1). PMID: 33001864.
    8. 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, Undiagnosed Diseases Network Moretti P, Wangler MF (2020). Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotype. 2020 Dec 22;:e1542. [Epub ahead of print] PMID: 33350591. Mol Genet Genomic Med.
    9. Meissner LE, Macnamara EF, DSouza P, Yang J, Vezina G, Undiagnosed Diseases Network Moretti P, Ferreira CR, Zein WM, Tifft CJ, Adams (2020). DR. DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature. 2020 Dec;8(12):e1544. PMID: 33159716. Mol Genet Genomic Med.
    10. Bryant L, Li D, Cox SG, Marchione D, Joiner EF, Wilson K, Janssen K, Lee P, March ME, Nair D, Sherr E, Fregeau B, Wierenga KJ, Wadley A, Mancini GMS, Powell-Hamilton N, van de Kamp J, Grebe T, Dean J, Ross A, Crawford HP, Powis Z, Cho MT, Willing MC, Manwaring L, Schot R, Nava C, Afenjar A, Lessel D, Wagner M, Klopstock T, Winkelmann J, Catarino CB, Retterer K, Schuette JL, Innis JW, Pizzino A, Lttgen S, Denecke J, Strom TM, Monaghan KG, Yuan ZF, Dubbs H, Bend R, Lee JA, Lyons MJ, Hoefele J, Gnthner R, Reutter H, Keren B, Radtke K, Sherbini O, Mrokse C, Helbig KL, Odent S, Cogne B, Mercier S, Bezieau S, Besnard T, Kury S, Redon R, Reinson K, Wojcik MH, unap K, Ilves P, Innes AM, Kernohan KD, Costain G, Meyn MS, Chitayat D, Zackai E, Lehman A, Kitson H, Martin MG, Martinez-Agosto JA, Undiagnosed Diseases Network Moretti P, Nelson SF, Palmer CGS, Papp JC, Parker NH, Sinsheimer JS, Vilain E, Wan J, Yoon AJ, Zheng A, Brimble E, Ferrero GB, Radio FC, Carli D, Barresi S, Brusco A, Tartaglia M, Thomas JM, Umana L, Weiss MM, Gotway G, Stuurman KE, Thompson ML, McWalter K, Stumpel CTRM, Stevens SJC, Stegmann APA, Tveten K, Vllo A, Prescott T, Fagerberg C, Laulund LW, Larsen MJ, Byler M, Lebel RR, Hurst AC, Dean J, Schrier Vergano SA, Norman J, Mercimek-Andrews S, Neira J, Van Allen MI, Longo N, Sellars E, Louie RJ, Cathey SS, Brokamp E, Heron D, Snyder M, Vanderver A, Simon C, de la Cruz X, Padilla N, Crump JG, Chung W, Garcia B, Hakonarson HH, Bhoj (2020). HistoneH3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients 2020 Dec;6(49). PMID: 33268356 . Sci Adv.
    11. Cif L, Demailly D, Lin JP, Barwick KE, Sa M, Abela L, Malhotra S, Chong WK, Steel D, Sanchis-Juan A, Ngoh A, Trump N, Meyer E, Vasques X, Rankin J, Allain MW, Applegate CD, Attaripour Isfahani S, Baleine J, Balint B, Bassetti JA, Baple EL, Bhatia KP, Blanchet C, Burglen L, Cambonie G, Seng EC, Bastaraud SC, Cyprien F, Coubes C, dHardemare V, Doja A, Dorison N, Doummar D, Dy-Hollins ME, Farrelly E, Fitzpatrick DR, Fearon C, Fieg EL, Fogel BL, Forman EB, Fox RG, Gahl WA, Galosi S, Gonzalez V, Graves TD, Gregory A, Hallett M, Hasegawa H, Hayflick SJ, Hamosh A, Hully M, Jansen S, Jeong SY, Krier JB, Krystal S, Kumar KR, Laurencin C, Lee H, Lesca G, Franois LL, Lynch T, Mahant N, Martinez-Agosto JA, Milesi C, Mills KA, Mondain M, Morales-Briceno H, Ostergaard JR, Pal S, Pallais JC, Pavillard F, Perrigault PF, Petersen AK, Polo G, Poulen G, Rinne T, Roujeau T, Rogers C, Roubertie A, Sahagian M, Schaefer E, Selim L, Selway R, Sharma N, Signer R, Soldatos AG, Stevenson DA, Stewart F, Tchan M, Undiagnosed Diseases Network Moretti P, Verma IC, de Vries BBA, Wilson JL, Wong DA, Zaitoun R, Zhen D, Znaczko A, Dale RC, de Gusmo CM, Friedman J, Fung VSC, King MD, Mohammad SS, Rohena L, Waugh JL, Toro C, Raymond FL, Topf M, Coubes P, Gorman KM, Kurian MA (2020). KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. 2020 Dec 5;143(11):3242-3261. PMID: 33150406. Brain.
    12. Barish S, Barakat TS, Michel BC, Mashtalir N, Phillips JB, Valencia AM, Ugur B, Wegner J, Scott TM, Bostwick B, Undiagnosed Diseases Network Moretti P, Murdock DR, Dai H, Perenthaler E, Nikoncuk A, van Slegtenhorst M, Brooks AS, Keren B, Nava C, Mignot C, Douglas J, Rodan L, Nowak C, Ellard S, Stals K, Lynch SA, Faoucher M, Lesca G, Edery P, Engleman KL, Zhou D, Thiffault I, Herriges J, Gass J, Louie RJ, Stolerman E, Washington C, Vetrini F, Otsubo A, Pratt VM, Conboy E, Treat K, Shannon N, Camacho J, Wakeling E, Yuan B, Chen CA, Rosenfeld JA, Westerfield M, Wangler M, Yamamoto S, Kadoch C, Scott DA, Bellen HJ (2020). BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms 2020 Dec 3;107(6):1096-1112. PMID: 33232675. Am J Med Genet.
    13. Granadillo JL, Wegner DJ, Paul AJ, Willing M, Sisco K, Tedder ML, Sadikovic B, Wambach JA, Baldridge D, Cole FS, Undiagnosed Diseases Network Moretti P (2020). Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses. 2020 Nov 13;. [Epub ahead of print] PMID: 33184947. Am J Med Genet.
    14. Diaz F, Khosa S, Niyazov D, Lee H, Person R, Morrow MM, Signer R, Dorrani N, Zheng A, Herzog M, Freundlich R, Undiagnosed Diseases Network Moretti P, Birath JB, Cervantes-Manzo Y, Martinez-Agosto JA, Palmer C, Nelson SF, Fogel BL, Mishra SK (2020). Novel NUDT2 variant causes intellectual disability and polyneuropathy. 2020 Nov;7(11):2320-2325. PMID: 33058507. Ann Clin Transl Neurol.
    15. Ng BG, Eklund EA, Shiryaev SA, Dong YY, Abbott MA, Asteggiano C, Bamshad MJ, Barr E, Bernstein JA, Chelakkadan S, Christodoulou J, Chung WK, Ciliberto MA, Cousin J, Gardiner F, Ghosh S, Graf WD, Grunewald S, Hammond K, Hauser NS, Hoganson GE, Houck KM, Kohler JN, Morava E, Larson AA, Liu P, Madathil S, McCormack C, Meeks NJL, Miller R, Monaghan KG, Nickerson DA, Palculict TB, Papazoglu GM, Pletcher BA, Scheffer IE, Schenone AB, Schnur RE, Si Y, Rowe LJ, Serrano Russi AH, Russo RS, Thabet F, Tuite A, Villanueva MM, Wang RY, Webster RI, Wilson D, Zalan A, Undiagnosed Diseases Network Moretti P, University of Washington Center for Mendelian Genomics UW-CMG Wolfe LA, Rosenfeld JA, Rhodes L, Freeze HH (2020). Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions. 2020 Nov;43(6):1333-1348. PMID: 32681751. J Inherit Metab Dis.
    16. Schoch K, Esteves C, Bican A, Spillmann R, Cope H, McConkie-Rosell A, Walley N, Fernandez L, Kohler JN, Bonner D, Reuter C, Stong N, Mulvihill JJ, Novacic D, Wolfe L, Abdelbaki A, Toro C, Tifft C, Malicdan M, Gahl W, Liu P, Newman J, Goldstein DB, Hom J, Sampson J, Wheeler MT, Undiagnosed Diseases Network Moretti P, Cogan J, Bernstein JA, Adams DR, McCray AT, Shashi V (2020). Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science. 2020 Oct 23;. [Epub ahead of print] PMID: 33093671. Genet Med.
    17. Cope H, Spillmann R, Rosenfeld JA, Brokamp E, Signer R, Schoch K, Kelley EG, Sullivan JA, Macnamara E, Lincoln S, Golden-Grant K, Undiagnosed Diseases Network Moretti P, Orengo JP, Clark G, Burrage LC, Posey JE, Punetha J, Robertson A, Cogan J, Phillips JA 3rd, Martinez-Agosto J, Shashi V (2020). Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network. 2020 Oct;8(10):e1397. PMID: 32730690. Mol Genet Genomics.
    18. Ghosh SG, Scala M, Beetz C, Helman G, Stanley V, Yang X, Breuss MW, Mazaheri N, Selim L, Hadipour F, Pais L, Stutterd CA, Karageorgou V, Begtrup A, Crunk A, Juusola J, Willaert R, Flore LA, Kennelly K, Spencer C, Brown M, Trapane P, Hurst ACE, Lane Rutledge S, Goodloe DH, McDonald MT, Shashi V, Schoch K, Undiagnosed Diseases Network Moretti P, Tomoum H, Zaitoun R, Hadipour Z, Galehdari H, Pagnamenta AT, Mojarrad M, Sedaghat A, Dias P, Quintas S, Eslahi A, Shariati G, Bauer P, Simons C, Houlden H, Issa MY, Zaki MS, Maroofian R, Gleeson JG (2020). A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. 2020 Sep 8;. [Epub ahead of print] PMID: 32901138. Eur J Hum Genet.
    19. Tambe MA, Ng BG, Shimada S, Wolfe LA, Adams DR, Undiagnosed Diseases Network Moretti P, Gahl WA, Bamshad MJ, Nickerson DA, Malicdan MCV (2020). Freeze HH. Mutations in GET4 disrupt the transmembrane domain recognition complex pathway. 2020 Sep;43(5):1037-1045. PMID: 32395830. J Inherit Metab Dis.
    20. 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 2nd, Nance J, Natowicz MR, Numis AL, Ostrem B, Pappas J, Stafstrom CE, Streff H, Sweetser DA, Szybowska M, Undiagnosed Diseases Network Moretti P, Walker MA, Wang W, Weiss K, Weksberg R, Wheeler PG, Yoon G, Kingston RE, Juusola J De Novo (2020). De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism. 2020 Aug 6;107(2):352-363. PMID: 32693025. Am J Hum Genet.
    21. Schneeberger PE, Kortm F, Korenke GC, Alawi M, Santer R, Woidy M, Buhas D, Fox S, Juusola J, Alfadhel M, Webb BD, Coci EG, Abou Jamra R, Siekmeyer M, Biskup S, Heller C, Maier EM, Javaher-Haghighi P, Bedeschi MF, Ajmone PF, Iascone M, Peeters H, Ballon K, Jaeken J, Rodrguez Alonso A, Palomares-Bralo M, Santos-Simarro F, Meuwissen MEC, Beysen D, Kooy RF, Houlden H, Murphy D, Doosti M, Karimiani EG, Mojarrad M, Maroofian R, Noskova L, Kmoch S, Honzik T, Cope H, Sanchez-Valle A, Undiagnosed Diseases Network Moretti P, Gelb BD, Kurth I, Hempel M, Kutsche K Biallelic (2020). MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder2020 Aug 1;143(8):2437-2453. PMID: 32761064. Brain.
    22. Castilla-Vallmanya L, Selmer KK, Dimartino C, Rabionet R, Blanco-Snchez 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-Coslier 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, Undiagnosed Diseases Network Moretti P, Care4Rare Canada Consortium Shapiro KA, Wong B, Gambello MJ, McDonald M, Karlowicz D, Colombo R, Serretti A, Pais L, ODonnell-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, Nitschk P, Pingault V, Munnich A, Cho MT, Cormier-Daire V, Balcells S, Lyonnet S, Grinberg D, Amiel J, Urreizti R, Gordon CT (2020). Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. 2020 Jul;22(7):1215-1226. PMID: 32376980. Genet Med.
    23. Schoch K, Tan QK, Stong N, Deak KL, McConkie-Rosell A, McDonald MT, Undiagnosed Diseases Network Moretti P, Goldstein DB, Jiang YH, Shashi V (2020). Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses. Jul;22(7):1269-1275. PMID: 32366967. Genet Med.
    24. Blanco-Snchez B, Clment A, Stednitz SJ, Kyle J, Peirce JL, McFadden M, Wegner J, Phillips JB, Macnamara E, Huang Y, Adams DR, Toro C, Gahl WA, Malicdan MCV, Tifft CJ, Zink EM, Bloodsworth KJ, Stratton KG, Undiagnosed Diseases Network Moretti P, Koeller DM, Metz TO, Washbourne P, Westerfield M (2020). yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development. 2020 Jun;16(6):e1008841. PMID: 32544203. PLoS Genet.
    25. Woods JD, Khanlou N, Lee H, Signer R, Shieh P, Chen J, Herzog M, Palmer C, Martinez-Agosto J, Undiagnosed Diseases Network Moretti P Nelson SF (2020). Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing. Neuropathology. 2020 Jun;40(3):302-307. PMID: 32037607. Neuropathology.
    26. 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, Undiagnosed Diseases Network Moretti P, Wangler MF, Yamamoto S, Sweetser DA, Bellen HJ (2020). De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment. 2020 Jun 3;29(9):1568-1579. PMID: 32356556. Hum Mol Genet.
    27. Burdick KJ, Cogan JD, Rives LC, Robertson AK, Koziura ME, Brokamp E, Duncan L, Hannig V, Pfotenhauer J, Vanzo R, Paul MS, Bican A, Morgan T, Duis J, Newman JH, Hamid R, Phillips JA 3rd, Undiagnosed Diseases Network Moretti P (2020). Limitations of exome sequencing in detecting rare and undiagnosed diseases. 2020 Jun;182(6):1400-1406. PMID: 32190976. Am J Med Genet A.
    28. Bziat V, Tavernier SJ, Chen YH, Ma CS, Materna M, Laurence A, Staal J, Aschenbrenner D, Roels L, Worley L, Claes K, Gartner L, Kohn LA, De Bruyne M, Schmitz-Abe K, Charbonnier LM, Keles S, Nammour J, Vladikine N, Luxman Maglorius Renkilaraj MR, Seeleuthner Y, Migaud M, Rosain J, Jeljeli M, Boisson B, Van Braeckel E, Rosenfeld JA, Dai H, Burrage LC, Murdock DR, Lambrecht BN, Avettand-Fenoel V, Vogel TP, Undiagnosed Diseases Network Moretti P Esther CR, Haskologlu S, Dogu F, Ciznar P, Boutboul D, Ouache-Chardin M, Amourette J, Lebras MN, Gauvain C, Tcherakian C, Ikinciogullari A, Beyaert R, Abel L, Milner JD, Grimbacher B, Couderc LJ, Butte MJ, Freeman AF, Catherinot, Fieschi C, Chatila TA, Tangye SG, Uhlig HH, Haerynck F, Casanova JL, Puel A (2020). Correction: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome. 2020 Jun 1;217(7). PMID: 32516385. Jpn J Exp Med.
    29. Ware AL, Wilde EA, Newsome MR, Moretti P, Abildskov T, Vogt GS, McCauley SR, Hanten G, Hunter JV, Chu ZD, Levin HS (2018). A preliminary investigation of corpus callosum subregion white matter vulnerability and relation to chronic outcome in boxers. Brain Imaging Behav, 14(3), 772-786. (Read full article)
    30. Shieh C, Jones N, Vanle B, Au M, Huang AY, Silva APG, Lee H, Douine ED, Otero MG, Choi A, Grand K, Taff IP, Delgado MR, Hajianpour MJ, Seeley A, Rohena L, Vernon H, Gripp KW, Vergano SA, Mahida S, Naidu S, Sousa AB, Wain KE, Challman TD, Beek G, Basel D, Ranells J, Smith R, Yusupov R, Freckmann ML, Ohden L, Davis-Keppen L, Chitayat D, Dowling JJ, Finkel R, Dauber A, Spillmann R, Pena LDM, Undiagnosed Diseases Network Moretti P, Metcalfe K, Splitt M, Lachlan K, McKee SA, Hurst J, Fitzpatrick DR, Morton JEV, Cox H, Venkateswaran S, Young JI, Marsh ED, Nelson SF, Martinez JA, Graham JM Jr, Kini U, Mackay JP, Pierson TM (2020). GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder. 2020 May;22(5):878-888. PMID: 31949314. Genet Med.
    31. Chung HL, Wangler MF, Marcogliese PC, Jo J, Ravenscroft TA, Zuo Z, Duraine L, Sadeghzadeh S, Li-Kroeger D, Schmidt RE, Pestronk A, Rosenfeld JA, Burrage L, Herndon MJ, Chen S, Members of Undiagnosed Diseases Network Moretti P Shillington A, Vawter-Lee M, Hopkin R, Rodriguez-Smith J, Henrickson M, Lee B, Moser AB, Jones RO, Watkins P, Yoo T, Mar S, Choi M, Bucelli RC, Yamamoto S, Lee HK, Prada CE, Chae JH, Vogel TP, Bellen HJ (2020). Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms. 2020 May 20;106(4):589-606.e6. PMID: 32169171. Neuron.
    32. Chung HL, Mao X, Wang H, Park YJ, Marcogliese PC, Rosenfeld JA, Burrage LC, Liu P, Murdock DR, Yamamoto S, Wangler MF, Undiagnosed Diseases Network Moretti P Chao HT, Long H, Feng L, Bacino CA, Bellen HJ, Xiao B (2020). De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy. 2020 May 7;106(5):717-725. PMID: 32330417. Am J Hum Genet.
    33. Davids M, Menezes M, Guo Y, McLean SD, Hakonarson H, Collins F, Worgan L, Billington CJ Jr, Maric I, Littlejohn RO, Onyekweli T, Members Of The Udn Moretti P, Adams DR, Tifft CJ, Gahl WA, Wolfe LA, Christodoulou J, Malicdan (2020). MCV. Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency. 2020 May;130(1):49-57. PMID: 32165008.  . Mol Genet Metab.
    34. Macnamara EF, DSouza P, Undiagnosed Diseases Network Moretti P, Tifft CJ (2020). . The undiagnosed diseases program: Approach to diagnosis. 2020 Apr 13;4(3-4):179-188. PMID: 32477883. Transl Sci Rare Dis.
    35. 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, Kry S, Sillesen M, Schmitz-Abe K, Tonduti D, Spaccini L, Iascone M, Genetti CA, Koenig MK, Graf M, Tran A, Alejandro M, Undiagnosed Diseases Network Moretti P, Lee BH, Thiffault I, Agrawal PB, Bernstein JA, Bellen HJ, Chao HT (2020). De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. 2020 Apr 2;106(4):570-583. PMID: 32197074. Am J Hum Genet.
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    77. Wang X, Posey JE, Rosenfeld JA, Bacino CA, Scaglia F, Immken L, Harris JM, Hickey SE, Mosher TM, Slavotinek A, Zhang J, Beuten J, Leduc MS, He W, Vetrini F, Walkiewicz MA, Bi W, Xiao R, Liu P, Shao Y, Gezdirici A, Gulec EY, Jiang Y, Darilek SA, Hansen AW, Khayat MM, Pehlivan D, Piard J, Muzny DM, Hanchard N, Belmont JW, Van Maldergem L Gibbs RA, Eldomery MK, Akdemir ZC, Adesina AM, Chen S, Lee YC, Undiagnosed Diseases Network, Lee B, Lupski JR, Eng CM, Xia F, Yang Y, Graham BH, Moretti P (2018). Phenotypic expansion in DDX3X - a common cause of intellectual disability in females. Ann Clin Transl Neurol, 5(10), 1277-1285.
    78. Walley NM, Pena LDM, Hooper SR, Cope H, Jiang YH, McConkie-Rosell A, Sanders C, Schoch K, Spillmann RC, Strong K, McCray AT, Mazur P, Esteves C, LeBlanc K, Undiagnosed Diseases Network Moretti P Wise AL, Shashi V (2018). Characteristics of undiagnosed diseases network applicants: implications for referring providers. 2018 Aug 22;18(1):652. PMID: 30134969. BMC Health Serv Res.
    79. Stephen J, Maddirevula S, Nampoothiri S, Burke JD, Herzog M, Shukla A, Steindl K, Eskin A, Patil SJ, Joset P, Lee H, Garrett LJ, Yokoyama T, Balanda N, Bodine SP, Tolman NJ, Zerfas PM, Zheng A, Ramantani G, Girisha KM, Rivas C, Suresh PV, Elkahloun A, Alsaif HS, Wakil SM, Mahmoud L, Ali R, Prochazkova M, Undiagnosed Diseases Network members Moretti P, Kulkarni AB, Ben-Omran T, Colak D, Morris HD, Rauch A, Martinez-Agosto JA, Nelson SF, Alkuraya FS, Gahl WA, Malicdan MCV (2018). MCV. Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism. 2018 Dec 6;103(6):948-967. PMID: 30526868. Am J Hum Genet.
    80. Ware AL, Biekman B, Hachey R, MacLeod MC, Bird W, Pathak S, Clarke E, Hricik AJ, Puccio A, Glavin K, Pomiecko K, Moretti P, Beers SR, Levin H, Schneider W, Wilde EA (2018). A Preliminary High-Definition Fiber Tracking Study of the Executive Control Network in Blast-Induced Traumatic Brain Injury. J Neurotrauma.
    81. Sung AR, Moretti P, Shaibani A (2018). Case of late-onset Sandhoff disease due to a novel mutation in the HEXB gene. Neurol Genet, 4(4), e260. (Read full article)
    82. Sung A, Moretti P, Shaibani A (2018). Case of late-onset Sandhoff disease due to a novel mutation in the HEXB gene. Neurol Genet, 4(4), E260.
    83. Machol K, Jankovic J, Vijayakumar D, Burrage LC, Jain M, Lewis RA, Fuller GN, Xu M, Penas-Prado M, Gule-Monroe MK, Rosenfeld JA, Chen R, Eng CM, Yang Y, Lee BH, Moretti P, Undiagnosed Diseases Network Dhar SU (2018). Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma. Neurol Genet, 4(4), e248.
    84. Hedera P, Moretti P, Howard J, Zhao J (2018). Novel Type of Complicated Autosomal Dominant Hereditary Spastic Paraplegia Associated with Congenital Distal Arthrogryposis Type I. Brain Sci, 8(7). (Read full article)
    85. Hedera P, Moretti P, Howard J, Zhao (2018). Novel Type of Complicated Autosomal Dominant Hereditary Spastic Paraplegia Associated with Congenital Distal Arthrogryposis Type I. Brain Sci, 8(7), e136.
    86. Liu N, Schoch K, Luo X, Pena LDM, Bhavana VH, Kukolich MK, Stringer S, Powis Z, Radtke K, Mroske C, Deak KL, McDonald MT, McConkie-Rosell A, Markert ML, Kranz PG, Stong N, Need AC, Bick D, Amaral MD, Worthey EA, Levy S, Undiagnosed Diseases Network UDN Moretti P Wangler MF, Bellen HJ, Shashi V, Yamamoto S (2018). Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder. 2018 Jul 15;27(14):2454-2465. PMID: 29726930. Hum Mol Genet.
    87. Tokita MJ, Chen CA, Chitayat D, Macnamara E, Rosenfeld JA, Hanchard N, Lewis AM, Brown CW, Marom R, Shao Y, Novacic D, Wolfe L, Wahl C, Tifft CJ, Toro C, Bernstein JA, Hale CL, Silver J, Hudgins L, Ananth A, Hanson-Kahn A, Shuster S, Undiagnosed Diseases Network Moretti P Magoulas PL, Patel VN, Zhu W, Chen SM, Jiang Y, Liu P, Eng CM, Batkovskyte D, di Ronza A, Sardiello M, Lee BH, Schaaf CP, Yang Y, Wang X (2018). De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features. 2018 Jul 5;103(1):154-162. PMID: 29961569. Am J Hum Genet.
    88. Reuter CM, Brimble E, DeFilippo C, Dries AM, Undiagnosed Diseases Network Moretti P, Enns GM, Ashley EA, Bernstein JA, Fisher PG, Wheeler MT (2018). A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network. 2018 May;196:291-297.e2. PMID: 29331327. J Clin Pediatr Dent.
    89. Jordan VK, Fregeau B, Ge X, Giordano J, Wapner RJ, Balci TB, Carter MT, Bernat JA, Moccia AN, Srivastava A, Martin DM, Bielas SL, Pappas J, Svoboda MD, Rio M, Boddaert N, Cantagrel V, Lewis AM, Scaglia F, Undiagnosed Diseases Network Moretti P, Kohler JN, Bernstein JA, Dries AM, Rosenfeld JA, DeFilippo C, Thorson W, Yang Y, Sherr EH, Bi W, Scott DA (2018). Genotype-phenotype correlations in individuals with pathogenic RERE variants. 2018 May;39(5):666-675. PMID: 29330883. (Moretti P). Hum Mutat.
    90. Poli MC, Ebstein F, Nicholas SK, de Guzman MM, Forbes LR, Chinn IK, Mace EM, Vogel TP, Carisey AF, Benavides F, Coban-Akdemir ZH, Gibbs RA, Jhangiani SN, Muzny DM, Carvalho CMB, Schady DA, Jain M, Rosenfeld JA, Emrick L, Lewis RA, Lee B, Undiagnosed Diseases Network members Moretti P Zieba BA, Kry S, Krger E, Lupski JR, Bostwick BL, Orange JS (2018). Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. 2018 Jun 7;102(6):1126-1142. PMID: 29805043. Am J Hum Genet.
    91. Cassini TA, Robertson AK, Bican AG, Cogan JD, Hannig VL, Newman JH, Hamid R, Phillips JA 3rd, Undiagnosed Diseases Network Moretti P (2018). Phenotypic heterogeneity of ZMPSTE24 deficiency. 2018 May;176(5):1175-1179. PMID: 29341437. Am J Med Genet A.
    92. Pena LDM, Jiang YH, Schoch K, Spillmann RC, Walley N, Stong N, Rapisardo Horn S, Sullivan JA, McConkie-Rosell A, Kansagra S, Smith EC, El-Dairi M, Bellet J, Keels MA, Jasien J, Kranz PG, Noel R, Nagaraj SK, Lark RK, Wechsler DSG, Del Gaudio D, Leung ML, Hendon LG, Parker CC, Jones KL, Undiagnosed Diseases Network Members Moretti P Goldstein DB, Shashi V (2018). Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases. 2018 Apr;20(4):464-469. PMID: 28914269. Genet Med.
    93. Komal FNU, Moretti P, Shaibani AI (2018). Deoxyguanosine kinase mutation producing juvenile-onset mitochondrial myopathy. 2018 4(5), e269. PMID: 30283818. Neurol Genet.
    94. 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, Sylemez 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, Undiagnosed Diseases Network Moretti P (2018). Brigham and Women’s Hospital FaceBase Project, Brigham Genomic Medicine (BGM). An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery. 2018;3:21. PMID: 30131872. NPJ Genom Med.
    95. Olhov M, Yoon WH, Thompson K, Jangam S, Fernandez L, Davidson JM, Kyle JE, Grove ME, Fisk DG, Kohler JN, Holmes M, Dries AM, Huang Y, Zhao C, Contrepois K, Zappala Z, Frsard L, Waggott D, Zink EM, Kim YM, Heyman HM, Stratton KG, Webb-Robertson BM, Undiagnosed Diseases Network Moretti P Snyder M, Merker JD, Montgomery SB, Fisher PG, Feichtinger RG, Mayr JA, Hall J, Barbosa IA, Simpson MA, Deshpande C, Waters KM, Koeller DM, Metz TO, Morris AA, Schelley S, Cowan T, Friederich MW, McFarland R, Van Hove JLK, Enns GM, Yamamoto S, Ashley EA, Wangler MF, Taylor RW, Bellen HJ, Bernstein JA, Wheeler MT (2018). Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 2018 Mar 1;102(3):494-504. PMID: 29478781. Am J Hum Genet.
    96. Pomerantz DJ, Ferdinandusse S, Cogan J, Cooper DN, Reimschisel T, Robertson A, Bican A, McGregor T, Gauthier J, Millington DS, Andrae JLW, Tschannen MR, Helbling DC, Demos WM, Denis S, Wanders RJA, Newman JN, Hamid R, Phillips JA 3rd, Collaborators of UDN Moretti P (2018). Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant. 2018 Mar;176(3):692-698. PMID: 29388319. Am J Hum Genet.
    97. Splinter K, Hull SC, Holm IA, McDonough TL, Wise AL, Ramoni RB, Members of the Undiagnosed Diseases Network Moretti P (2018). Implementing the Single Institutional Review Board Model: Lessons from the Undiagnosed Diseases Network. Jan;11(1):28-31. PMID: 28945957. J Clin Transl Sci.
    98. Kry 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, Denomm-Pichon AS, Lesca G, Sellars EA, Berg J, Carr W, Busk L, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla L, 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, Undiagnosed Diseases Network Moretti P Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogn B, GEM HUGO Deciphering Developmental Disorders Study Petrovski S, Retterer K, Eichler EE, Rosenfeld JA, Agrawal PB, Bzieau S, Odent S, Elgersma Y, Mercier S (2017). De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. Am J Hum Genet. 2017 Nov 2;101(5):768-788. PMID: 29100089. Am J Hum Genet.
    99. Wangler MF, Yamamoto S, Chao HT, Posey JE, Westerfield M, Postlethwait J, Members of the Undiagnosed Diseases Network UDN Moretti P Hieter P, Boycott KM, Campeau PM, Bellen HJ (2017). Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research. Genetics. 2017 Sep;207(1):9-27. PMID: 28874452. Adv Genet.
    100. Bostwick BL, McLean S, Posey JE, Streff HE, Gripp KW, Blesson A, Powell-Hamilton N, Tusi J, Stevenson DA, Farrelly E, Hudgins L, Yang Y, Xia F, Wang X, Liu P, Walkiewicz M, McGuire M, Grange DK, Andrews MV, Hummel M, Madan-Khetarpal S, Infante E, Coban-Akdemir Z, Miszalski-Jamka K, Jefferies JL, Members of the Undiagnosed Diseases Network Moretti P Rosenfeld JA, Emrick L, Nugent KM, Lupski JR, Belmont JW, Lee B, Lalani SR (2017). Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 2017 Aug 14;9(1):73. PMID: 28807008. Genome Med.
    101. Luo X, Rosenfeld JA, Yamamoto S, Harel T, Zuo Z, Hall M, Wierenga KJ, Pastore MT, Bartholomew D, Delgado MR, Rotenberg J, Lewis RA, Emrick L, Bacino CA, Eldomery MK, Coban Akdemir Z, Xia F, Yang Y, Lalani SR, Lotze T, Lupski JR, Lee B, Bellen HJ, Wangler MF, Members of the UDN Moretti P (2017). Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. 2017 Jul;13(7):e1006905. PMID: 28742085. PLoS Genet.
    102. Wang J, Al-Ouran R, Hu Y, Kim SY, Wan YW, Wangler MF, Yamamoto S, Chao HT, Comjean A, Mohr SE, Undiagnosed Diseases Network Moretti P Perrimon N, Liu Z, Bellen HJ (2017). MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome. 2017 Jun 1;100(6):843-853. PMID: 28502612. Am J Hum Genet.
    103. Zou F, McWalter K, Schmidt L, Decker A, Picker JD, Lincoln S, Sweetser DA, Briere LC, Harini C, Members of the Undiagnosed Diseases Network Moretti P 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 (2017). Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype. 2017 Mar - Jun;31(1-2):30-36. PMID: 28460589. J Neurogenet.
    104. Spillmann RC, McConkie-Rosell A, Pena L, Jiang YH, Undiagnosed Diseases Network Moretti P Schoch K, Walley N, Sanders C, Sullivan J, Hooper SR, Shashi V (2017). A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network. 2017 Apr 17;12(1):71. PMID: 28416019. Orphanet J Rare Dis.
    105. Ramoni RB, Mulvihill JJ, Adams DR, Allard P, Ashley EA, Bernstein JA, Gahl WA, Hamid R, Loscalzo J, McCray AT, Shashi V, Tifft CJ, Undiagnosed Diseases Network Moretti P Wise AL (2017). The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease. 2017 Feb 2;100(2):185-192. PMID: 28157539. Am J Hum Genet.
    106. Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S, Freedman S, Bali D, Millan F, Bale S, Nelson SF, Lee H, Dorrani N, UCLA Clinical Genomics Center Undiagnosed Diseases Network Moretti P Goldstein DB, Xiao R, Yang Y, Posey JE, Martinez-Agosto JA, Lupski JR, Wangler MF, Shashi V (2017). A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. 2017 Feb 2;100(2):343-351. PMID: 28132692. Am J Hum Genet.
    107. Chao HT, Davids M, Burke E, Pappas JG, Rosenfeld JA, McCarty AJ, Davis T, Wolfe L, Toro C, Tifft C, Xia F, Stong N, Johnson TK, Warr CG, Undiagnosed Diseases Network Moretti P Yamamoto S, Adams DR, Markello TC, Gahl WA, Bellen HJ, Wangler MF, Malicdan MCV (2017).  A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 2017 Jan 5;100(1):128-137. PMID: 28017372. Am J Hum Genet.
    108. Zastrow DB, Zornio PA, Dries A, Kohler J, Fernandez L, Waggott D, Walkiewicz M, Eng CM, Manning MA, Farrelly E, Undiagnosed Diseases Network Moretti P Fisher PG, Ashley EA, Bernstein JA, Wheeler MT (2017). Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype. 2017 Jan;3(1):a001388. PMID: 28050602. Cold Spring Harb Mol Case Stud.
    109. Shashi V, Pena LD, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin HM, Cho M, Stong N, Hickey SE, Shuss CM, Undiagnosed Diseases Network Moretti P Freemark MS, Bellet JS, Keels MA, Bonner MJ, El-Dairi M, Butler M, Kranz PG, Stumpel CT, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkil S, Pietilainen O, Aarno P, Kurki MI, Hoischen A, Need AC, Goldstein DB, Kortm F (2016). De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. 2016 Oct 6;99(4):991-999. PMID: 27693232. Am J Hum Genet.
    110. Bashamboo A, Donohoue PA, Vilain E, Rojo S, Calvel P, Seneviratne SN, Buonocore F, Barseghyan H, Bingham N, Rosenfeld JA, Mulukutla SN, Jain M, Burrage L, Dhar S, Balasubramanyam A, Lee B, Members of the UDN Moretti P (2016). A recurrent p. Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. 2016 Aug 15;25(16):3446-3453. PMID: 27378692. Hum Mol Genet.
    111. Besse A, Wu P, Bruni F, Donti T, Graham BH, Craigen WJ, McFarland R, Moretti P, Lalani S, Scott KL, Taylor RW, Bonnen PE (2015). The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism. Cell Metab, 21(3), 417-27. (Read full article)
    112. Martini SR, Williams SR, Moretti P, Woo D, Worrall BB (2015). A molecular/genetic approach to Cerebral Small Vessel Disease: Beyond aging and hypertension. Brain Circ, 1(1), 79-87.
    113. Boone PM, Yuan B, Campbell IM, Scull JC, Withers MA, Baggett BC, Beck CR, Shaw CJ, Stankiewicz P, Moretti P, Goodwin WE, Hein N, Fink JK, Seong MW, Seo SH, Park SS, Karbassi ID, Batish SD, Ordez-Ugalde A, Quintns B, Sobrido MJ, Stemmler S, Lupski JR (2014). The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles. Am J Hum Genet, 95(2), 143-61. (Read full article)
    114. McCauley SR, Wilde EA, Moretti P, Macleod MC, Pedroza C, Drever P, Fourwinds S, Frisby ML, Beers SR, Scott JN, Hunter JV, Traipe E, Valadka AB, Okonkwo DO, Zygun DA, Puccio AM, Clifton GL (2013). Neurological outcome scale for traumatic brain injury: III. Criterion-related validity and sensitivity to change in the NABIS hypothermia-II clinical trial. J Neurotrauma, 30(17), 1506-11. (Read full article)
    115. Kalkonde YV, Shelton R, Villarreal M, Sigala J, Mishra PK, Ahuja SS, Barea-Rodriguez E, Moretti P, Ahuja SK (2011). The CC chemokine receptor 5 regulates olfactory and social recognition in mice. Neuroscience, 197, 153-61. (Read full article)
    116. McCauley SR, Wilde EA, Kelly TM, Weyand AM, Yallampalli R, Waldron EJ, Pedroza C, Schnelle KP, Boake C, Levin HS, Moretti P (2010). The Neurological Outcome Scale for Traumatic Brain Injury (NOS-TBI): II. Reliability and convergent validity. J Neurotrauma, 27(6), 991-7. (Read full article)
    117. Wilde EA, McCauley SR, Kelly TM, Weyand AM, Pedroza C, Levin HS, Clifton GL, Schnelle KP, Shah MV, Moretti P (2010). The Neurological Outcome Scale for Traumatic Brain Injury (NOS-TBI): I. Construct validity. J Neurotrauma, 27(6), 983-9. (Read full article)
    118. Wilde EA, McCauley SR, Kelly TM, Levin HS, Pedroza C, Clifton GL, Robertson CS, Valadka AB, Moretti P (2010). Feasibility of the Neurological Outcome Scale for Traumatic Brain Injury (NOS-TBI) in adults. J Neurotrauma, 27(6), 975-81. (Read full article)
    119. Shirani P, Jawaid A, Moretti P, Lahijani E, Salamone AR, Schulz PE, Edmondson EA (2010). Familial occurrence of complex regional pain syndrome. Can J Neurol Sci, 37(3), 389-94. (Read full article)
    120. Fyffe SL, Neul JL, Samaco RC, Chao HT, Ben-Shachar S, Moretti P, McGill BE, Goulding EH, Sullivan E, Tecott LH, Zoghbi HY (2008). Deletion of Mecp2 in Sim1-expressing neurons reveals a critical role for MeCP2 in feeding behavior, aggression, and the response to stress. Neuron, 59(6), 947-58. (Read full article)
    121. Moretti P, Peters SU, Del Gaudio D, Sahoo T, Hyland K, Bottiglieri T, Hopkin RJ, Peach E, Min SH, Goldman D, Roa B, Bacino CA, Scaglia F (2008). Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency. J Autism Dev Disord, 38(6), 1170-7. (Read full article)
    122. Brewer GJ, Askari F, Lorincz MT, Carlson M, Schilsky M, Kluin KJ, Hedera P, Moretti P, Fink JK, Tankanow R, Dick RB, Sitterly J (2006). Treatment of Wilson disease with ammonium tetrathiomolybdate: IV. Comparison of tetrathiomolybdate and trientine in a double-blind study of treatment of the neurologic presentation of Wilson disease. Arch Neurol, 63(4), 521-7. (Read full article)
    123. Moretti P, Levenson JM, Battaglia F, Atkinson R, Teague R, Antalffy B, Armstrong D, Arancio O, Sweatt JD, Zoghbi HY (2006). Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome. J Neurosci, 26(1), 319-27. (Read full article)
    124. Moretti P, Sahoo T, Hyland K, Bottiglieri T, Peters S, del Gaudio D, Roa B, Curry S, Zhu H, Finnell RH, Neul JL, Ramaekers VT, Blau N, Bacino CA, Miller G, Scaglia F (2005). Cerebral folate deficiency with developmental delay, autism, and response to folinic acid. Neurology, 64(6), 1088-90. (Read full article)
    125. Moretti P, Hedera P, Wald J, Fink J (2005). Autosomal recessive primary generalized dystonia in two siblings from a consanguineous family. Mov Disord, 20(2), 245-7. (Read full article)
    126. Moretti P, Bouwknecht JA, Teague R, Paylor R, Zoghbi HY (2005). Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome. Hum Mol Genet, 14(2), 205-20. (Read full article)
    127. Moretti P, Lieberman AP, Wilde EA, Giordani BI, Kluin KJ, Koeppe RA, Minoshima S, Kuhl DE, Seltzer WK, Foster NL (2004). Novel insertional presenilin 1 mutation causing Alzheimer disease with spastic paraparesis. Neurology, 62(10), 1865-8. (Read full article)
    128. Moretti P, Blazo M, Garcia L, Armstrong D, Lewis RA, Roa B, Scaglia F (2004). Spinocerebellar ataxia type 2 (SCA2) presenting with ophthalmoplegia and developmental delay in infancy. Am J Med Genet A, 124A(4), 392-6. (Read full article)
    129. Gruis KL, Moretti P, Gebarski SS, Mikol DD (2003). Cerebellitis in an adult with abnormal magnetic resonance imaging findings prior to the onset of ataxia. Arch Neurol, 60(6), 877-80. (Read full article)
    130. Moretti P, Shore D (2001). Multiple interactions in Sir protein recruitment by Rap1p at silencers and telomeres in yeast. Mol Cell Biol, 21(23), 8082-94. (Read full article)
    131. Marcand S, Buck SW, Moretti P, Gilson E, Shore D (1996). Silencing of genes at nontelomeric sites in yeast is controlled by sequestration of silencing factors at telomeres by Rap 1 protein. Genes Dev, 10(11), 1297-309. (Read full article)
    132. Moretti P, Freeman K, Coodly L, Shore D (1994). Evidence that a complex of SIR proteins interacts with the silencer and telomere-binding protein RAP1. Genes Dev, 8(19), 2257-69. (Read full article)
    133. Ausoni S, Campione M, Picard A, Moretti P, Vitadello M, De Nardi C, Schiaffino S (1994). Structure and regulation of the mouse cardiac troponin I gene. J Biol Chem, 269(1), 339-46. (Read full article)
    134. DeNardi C, Ausoni S, Moretti P, Gorza L, Velleca M, Buckingham M, Schiaffino S (1993). Type 2X-myosin heavy chain is coded by a muscle fiber type-specific and developmentally regulated gene. J Cell Biol, 123(4), 823-35. (Read full article)
    135. Sarzani R, Arnaldi G, De Pirro R, Moretti P, Schiaffino S, Rappelli A (1992). A Novel Endothelial Tyrosine Kinase cDNA Homologous to Platelet-Derived Growth Factor Receptor cDNA. Biochem Biophys Res Commun, 186(2), 706-14.
    136. LaFramboise WA, Daood MJ, Guthrie RD, Schiaffino S, Moretti P, Brozanski B, Ontell MP, Butler-Browne GS, Whalen RG, Ontell M (1991). Emergence of the Mature Myosin Phenotype in the Rat Diaphragm Muscle. Dev Biol, 144, 1-15.
    137. Ausoni S, De Nardi C, Moretti P, Gorza L, Schiaffino S (1991). Developmental Expression of Rat Cardiac Troponin I mRNA. Development, 112, 1041-51.
    138. LaFramboise WA, Daood MJ, Guthrie RD, Moretti P, Schiaffino S, Ontell M (1990). Electrophoretic Separation and Immunological Identification of Type 2X Myosin Heavy Chain in Rat Skeletal Muscle. Biochim Biophys Acta, 1035, 109-12.

    Review

    1. Bluett B, Pantelyat AY, Litvan I, Ali F, Apetauerova D, Bega D, Bloom L, Bower J, Boxer AL, Dale ML, Dhall R, Duquette A, Fernandez HH, Fleisher JE, Grossman M, Howell M, Kerwin DR, Leegwater-Kim J, Lepage C, Ljubenkov PA, Mancini M, McFarland NR, Moretti P, Myrick E, Patel P, Plummer LS, Rodriguez-Porcel F, Rojas J, Sidiropoulos C, Sklerov M, Sokol LL, Tuite PJ, VandeVrede L, Wilhelm J, Wills AA, Xie T, Golbe LI (2021). Best Practices in the Clinical Management of Progressive Supranuclear Palsy and Corticobasal Syndrome: A Consensus Statement of the CurePSP Centers of Care. [Review]. Front Neurol, 12, 1-23.
    2. Moretti P, Zoghbi HY (2006). MeCP2 dysfunction in Rett syndrome and related disorders. [Review]. Curr Opin Genet Dev, 16(3), 276-81. (Read full article)

    Book Chapter

    1. Moretti P (2016). Neurogenetics. In Mizrahi E, Kass J (Eds.), Neurology Secrets (6th edition). Elsevier.
    2. Brewer J, Askari F, Lorincz MT, Carlson M, Schilsky M, Kluin KJ, Hedera P, Moretti P, Fink JK, Tankanow R, Dick RB, Sitterly J (2008). Progress in Neurotherapeutics and Neuropsychopharmacology. In Cummings JL (Ed.) (3, pp. 153-65). Cambridge University Press.
    3. Schiaffino S, Moretti P (1994). Contractile Protein Isoforms in Sarcomeric Muscles: Distribution, Function and Control of Gene Expression. In Melandri BA (Ed.), Bioelectrochemistry IV (pp. 271-99). New York: Plenum Press.