Paolo Moretti, MD

Journal Article

1. Sung A, Moretti P, Shaibani A (2021). Adult-Onset Spinal Muscular Atrophy due to Mutations in the VRK1 Gene. Neurol Genet, 7(4), e599.
2. 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.
3. 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.
4. 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.
5. 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.
6. 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.
7. 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.
8. 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.
9. 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.
10. 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.
11. 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.
12. 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.
13. 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.
14. 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.
15. 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.
16. 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.
17. 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.
18. 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.
19. 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.
20. 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.
21. 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.
22. 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.
23. 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.
24. 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.
25. 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.
26. 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.
27. 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.
28. 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.
29. 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.
30. 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.
31. 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.
32. 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.
33. 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.
34. Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, Xia K, Scheck J, Aldinger KA, Sajan SA, Tang S, Bonneau D, Beck A, White J, Mahida S, Harris J, Smith-Hicks C, Hoyer J, Zweier C, Reis A, Thiel CT, Jamra RA, Zeid N, Yang A, Farach LS, Walsh L, Payne K, Rohena L, Velinov M, Ziegler A, Schaefer E, Gatinois V, Genevive D, Simon MEH, Kohler J, Rotenberg J, Wheeler P, Larson A, Ernst ME, Akman CI, Westman R, Blanchet P, Schillaci LA, Vincent-Delorme C, Gripp KW, Mattioli F, Guyader GL, Gerard B, Mathieu-Dramard M, Morin G, Sasanfar R, Ayub M, Vasli N, Yang S, Person R, Monaghan KG, Nickerson DA, van Binsbergen E, Enns GM, Dries AM, Rowe LJ, Tsai ACH, Svihovec S, Friedman J, Agha Z, Qamar R, Rodan LH, Martinez-Agosto J, Ockeloen CW, Vincent M, Sunderland WJ, Bernstein JA, Undiagnosed Diseases Network Moretti P, Eichler EE, Vincent JB, University of Washington Center for Mendelian Genomics UW-CMG, Bamshad MJ (2020). De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. 2020 Mar;22(3):538-546. PMID: 31723249. Genet Med.
35. Lee H, Huang AY, Wang LK, Yoon AJ, Renteria G, Eskin A, Signer RH, Dorrani N, Nieves-Rodriguez S, Wan J, Douine ED, Woods JD, DellAngelica EC, Fogel BL, Martin MG, Butte MJ, Parker NH, Wang RT, Shieh PB, Wong DA, Gallant N, Singh KE, Tavyev Asher YJ, Sinsheimer JS, Krakow D, Loo SK, Allard P, Papp JC, Undiagnosed Diseases Network Moretti P, Palmer CGS, Martinez-Agosto JA, Nelson SF (2020). Diagnostic utility of transcriptome sequencing for rare Mendelian diseases. 2020 Mar;22(3):490-499. PMID: 31607746. Genet Med.
36. Aday AW, Krier JB, Pallais JC, Fieg EL, MacRae CA, Loscalzo J, Members of the UDN Moretti P (2020). The Undiagnosed Diseases Network as a Tool for Graduate Medical Education. 2020 Feb;133(2):e18-e22. PMID: 31301294. Ala J Med Sci.
37. Johnson BV, Kumar R, Oishi S, Alexander S, Kasherman M, Vega MS, Ivancevic A, Gardner A, Domingo D, Corbett M, Parnell E, Yoon S, Oh T, Lines M, Lefroy H, Kini U, Van Allen M, Grnborg S, Mercier S, Kry S, Bzieau S, Pasquier L, Raynaud M, Afenjar A, Billette de Villemeur T, Keren B, Dsir J, Van Maldergem L, Marangoni M, Dikow N, Koolen DA, VanHasselt PM, Weiss M, Zwijnenburg P, Sa J, Reis CF, Lpez-Otn C, Santiago-Fernndez O, Fernndez-Jan A, Rauch A, Steindl K, Joset P, Goldstein A, Madan-Khetarpal S, Infante E, Zackai E, Mcdougall C, Narayanan V, Ramsey K, Mercimek-Andrews S, Pena L, Shashi V, Undiagnosed Diseases Network Moretti P, Schoch K, Sullivan JA, Pinto E Vairo F, Pichurin PN, Ewing SA, Barnett SS, Klee EW, Perry MS, Koenig MK, Keegan CE, Schuette JL, Asher S, Perilla-Young Y, Smith LD, Rosenfeld JA, Bhoj E, Kaplan P, Li D, Oegema R, van Binsbergen E, van der Zwaag B, Smeland MF, Cutcutache I, Page M, Armstrong M, Lin AE, Steeves MA, Hollander ND, Hoffer MJV, Reijnders MRF, Demirdas S, Koboldt DC, Bartholomew D, Mosher TM, Hickey SE, Shieh C, Sanchez-Lara PA, Graham JM Jr, Tezcan K, Schaefer GB, Danylchuk NR, Asamoah A, Jackson KE, Yachelevich N, Au M, Prez-Jurado LA, Kleefstra T, Penzes P, Wood SA, Burne T, Pierson TM, Piper M, Gcz J, Jolly LA (2020). Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling. 2020 Jan 15;87(2):100-112. PMID: 31443933. Biol Psychiatry.
38. McConkie-Rosell A, Schoch K, Sullivan J, Cope H, Spillmann R, Palmer CGS, Pena L, Jiang YH, Daniels N, Walley N, Tan KG, Undiagnosed Diseases Network Moretti P, Hooper SR, Shashi V (2019). The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease. 2019 Dec;96(6):521-531. PMID: 31448412. Clin Genet.
39. Bhatia A, Mobley BC, Cogan J, Koziura ME, Brokamp E, Phillips J, Newman J, Moore SA, Hamid R, Members of the Undiagnosed Diseases Network Moretti P (2019). Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy. 2019 Nov - Dec;58:108-113. PMID: 31299614. Clin Imaging.
40. Holt JM, Wilk B, Birch CL, Brown DM, Gajapathy M, Moss AC, Sosonkina N, Wilk MA, Anderson JA, Harris JM, Kelly JM, Shaterferdosian F, Uno-Antonison AE, Weborg A, Undiagnosed Diseases Network Moretti P, Worthey EA (2019). VarSight: prioritizing clinically reported variants with binary classification algorithms. 2019 Oct 15;20(1):496. PMID: 31615419. BMC Bioinformatics.
41. Geng LN, Kohler JN, Levonian P, Members of the Undiagnosed Diseases Network Moretti P, Bernstein JA, Ford JM, Ahuja N, Witteles R, Hom J, Wheeler M (2019). Genomics in medicine: a novel elective rotation for internal medicine residents. 2019 Oct;95(1128):569-572. PMID: 31439813. Postgrad Med.
42. Accogli A, Calabretta S, St-Onge J, Boudrahem-Addour N, Dionne-Laporte A, Joset P, Azzarello-Burri S, Rauch A, Krier J, Fieg E, Pallais JC, Undiagnosed Diseases Network Moretti P, McConkie-Rosell A, McDonald M, Freedman SF, Rivire JB, Lafond-Lapalme J, Simpson BN, Hopkin RJ, Trimouille A, Van-Gils J, Begtrup A, McWalter K, Delphine H, Keren B, Genevieve D, Argilli E, Sherr EH, Severino M, Rouleau GA, Yam PT, Charron F, Srour M (2019). De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects. 2019 Oct 3;105(4):854-868. PMID: 31585109. Am J Hum Genet.
43. Boonsawat P, Joset P, Steindl K, Oneda B, Gogoll L, Azzarello-Burri S, Sheth F, Datar C, Verma IC, Puri RD, Zollino M, Bachmann-Gagescu R, Niedrist D, Papik M, Figueiro-Silva J, Masood R, Zweier M, Kraemer D, Lincoln S, Rodan L, Undiagnosed Diseases Network UDN Moretti PPassemard S, Drunat S, Verloes A, Horn AHC, Sticht H, Steinfeld R, Plecko B, Latal B, Jenni O, Asadollahi R, Rauch A (2019). Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly. 2019 Sep;21(9):2043-2058. PMID: 30842647. Genet Med.
44. 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, Undiagnosed Diseases Network Moretti P, Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV (2019). De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. 2019 Sep 5;105(3):672-674. PMID: 31491411. Am J Hum Biol.
45. Emrick LT, Rosenfeld JA, Lalani SR, Jain M, Desai NK, Larson A, Kripps K, Vanderver A, Taft RJ, Bluske K, Perry D, Nagakura H, Immken LL, Burrage LC, Bacino CA, Belmont JW, Undiagnosed Diseases Network Moretti P, Lee B (2019). Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum. 2019 Jul;21(7):1652-1656. PMID: 30568308. Genet Med.
46. Deisseroth CA, Birgmeier J, Bodle EE, Kohler JN, Matalon DR, Nazarenko Y, Genetti CA, Brownstein CA, Schmitz-Abe K, Schoch K, Cope H, Signer R, Undiagnosed Diseases Network Moretti P, Martinez-Agosto JA, Shashi V, Beggs AH, Wheeler MT, Bernstein JA, Bejerano G (2019). ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis. 2019 Jul;21(7):1585-1593. PMID: 30514889. Genet Med.
47. Frsard L, Smail C, Ferraro NM, Teran NA, Li X, Smith KS, Bonner D, Kernohan KD, Marwaha S, Zappala Z, Balliu B, Davis JR, Liu B, Prybol CJ, Kohler JN, Zastrow DB, Reuter CM, Fisk DG, Grove ME, Davidson JM, Hartley T, Joshi R, Strober BJ, Utiramerur S, Undiagnosed Diseases Network Moretti P, Care4Rare Canada Consortium Lind L, Ingelsson E, Battle A, Bejerano G, Bernstein JA, Ashley EA, Boycott KM, Merker JD, Wheeler MT, Montgomery SB (2019). Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts. 2019 Jun;25(6):911-919. PMID: 31160820.
48. Hom J, Marwaha S, Postolova A, Kittle J, Vasquez R, Davidson J, Kohler J, Dries A, Fernandez-Betancourt L, Majcherska M, Dearlove J, Raghavan S, Vogel H, Bernstein JA, Fisher P, Ashley E, Sampson J, Wheeler M, Undiagnosed Diseases Network Moretti P (2019). A Patient with Sjogren's Syndrome and Subsequent Diagnosis of Inclusion Body Myositis and Light-Chain Amyloidosis. 2019 Jun;34(6):1058-1062. PMID: 30887439. J Gen Intern Med.
49. Silverman EK, Allard P, Loscalzo J, Mulvihill JJ, Korrick SA, Undiagnosed Diseases Network Moretti P (2019). Reported environmental exposures are inversely associated with obtaining a genetic diagnosis in the Undiagnosed Diseases Network. 2019 Jun;179(6):958-965. PMID: 30903737. Am J Med Genet.
50. Kumar A, Zastrow DB, Kravets EJ, Beleford D, Ruzhnikov MRZ, Grove ME, Dries AM, Kohler JN, Waggott DM, Yang Y, Huang Y, Undiagnosed Diseases Network Moretti P, Mackenzie KM, Eng CM, Fisher PG, Ashley EA, Teng JM, Stevenson DA, Shieh JT, Wheeler MT, Bernstein JA (2019). Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review. 2019 Jun;179(6):966-977. PMID: 30920161. Am J Med Genet.
51. Newman JH, Shaver A, Sheehan JH, Mallal S, Stone JH, Pillai S, Bastarache L, Riebau D, Allard-Chamard H, Stone WM, Perugino C, Pilkinton M, Smith SA, McDonnell WJ, Capra JA, Meiler J, Cogan J, Xing K, Mahajan VS, Mattoo H, Hamid R, Phillips JA 3rd, Undiagnosed Diseases Network Moretti P (2019). IgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells. 2019 Jun;7(6):e686. PMID: 30993913. Mol Genet Med.
52. Nicoli ER, Weston MR, Hackbarth M, Becerril A, Larson A, Zein WM, Baker PR 2nd, Burke JD, Dorward H, Davids M, Huang Y, Adams DR, Zerfas PM, Chen D, Markello TC, Toro C, Wood T, Elliott G, Vu M, Undiagnosed Diseases Network Moretti P, Zheng W, Garrett LJ, Tifft CJ, Gahl WA, Day-Salvatore DL, Mindell JA, Malicdan MCV (2019). Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification. 2019 Jun 6;104(6):1127-1138. PMID: 31155284. Am J Hum Genet.
53. Macnamara EF, Koehler AE, DSouza P, Estwick T, Lee P, Vezina G, Undiagnosed Diseases Network Moretti P, Fauni H, Braddock SR, Torti E, Holt JM, Sharma P, Malicdan MCV, Tifft CJ (2019). Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2. 2019 May;40(5):532-538. PMID: 30740830. Hum Mutat.
54. Shashi V, Geist J, Lee Y, Yoo Y, Shin U, Schoch K, Sullivan J, Stong N, Smith E, Jasien J, Kranz P, Undiagnosed Diseases Network Moretti P, Lee Y, Shin YB, Wright NT, Choi M, Kontrogianni-Konstantopoulos A (2019). Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis. Hum Mutat, 40(8), 1115-1126.
55. Zastrow DB, Kohler JN, Bonner D, Reuter CM, Fernandez L, Grove ME, Fisk DG, Undiagnosed Diseases Network Moretti P, Yang Y, Eng CM, Ward PA, Bick D, Worthey EA, Fisher PG, Ashley EA, Bernstein JA, Wheeler MT (2019). A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing. 2019 Apr;28(2):213-228. PMID: 30964584. J Genet Couns.
56. Grove ME, White S, Fisk DG, Rego S, Dagan-Rosenfeld O, Kohler JN, Reuter CM, Bonner D, Undiagnosed Diseases Network Moretti P, Wheeler MT, Bernstein JA, Ormond KE, Hanson-Kahn AK (2019). Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students. 2019 Apr;28(2):466-476. PMID: 30706981. J Genet Couns.
57. Cassini TA, Duncan L, Rives LC, Newman JH, Phillips JA, Koziura ME, Brault J, Hamid R, Cogan J, Undiagnosed Diseases Network Moretti P (2019). Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms. Mol Genet Med, 7(6), e00676.
58. Mohanty AK, Vuzman D, Francioli L, Cassa C, Brigham Genomic Medicine Undiagnosed Diseases Network Moretti P Brigham and Womens Hospital FaceBase Project Toth-Petroczy A, Sunyaev S novoCaller a Bayesian network approach for de novo variant calling from pedigree and population sequence data Bioinformatics 2019 Apr 13571174-1180 PMID 30169785 (2019). novoCaller: aBayesian network approach for de novo variant calling from pedigree and population sequence data. Bioinformatics. 2019 Apr 1;35(7):1174-1180. PMID: 30169785. Bioinformatics.
59. Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS, University of Washington Center for Mendelian Genomics Undiagnosed Diseases Network Moretti P Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B (2019). Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. Am J Hum Genet. 2019 Mar 7;104(3):422-438. PMID: 30773277. Am J Hum Genet.
60. Kelly M, Park M, Mihalek I, Rochtus A, Gramm M, Prez-Palma E, Axeen ET, Hung CY, Olson H, Swanson L, Anselm I, Briere LC, High FA, Sweetser DA, Undiagnosed Diseases Network Moretti P Kayani S, Snyder M, Calvert S, Scheffer IE, Yang E, Waugh JL, Lal D, Bodamer O, Poduri A (2019). Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. 2019 Mar;60(3):406-418. PMID: 30682224.
61. Ware AL, Biekman B, Hachey R, MacLeod M, Bird W, Pathak S, Clarke E, Borrasso A, Puccio AM, Glavin K, Pomiecko K, Moretti P, Beers SR, Levin HS, Schneider W, Okonkwo DO, Wilde EA (2018). A Preliminary High-Definition Fiber Tracking Study of the Executive Control Network in Blast-Induced Traumatic Brain Injury. J Neurotrauma, 36(5), 686-701.
62. Shashi V, Schoch K, Spillmann R, Cope H, Tan QK, Walley N, Pena L, McConkie-Rosell A, Jiang YH, Stong N, Need AC, Goldstein DB, Undiagnosed Diseases Network Moretti P (2019). A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative. 2019 Jan;21(1):161-172. PMID: 29907797. Genet Med.
63. Machol K, Rousseau J, Ehresmann S, Garcia T, Nguyen TTM, Spillmann RC, Sullivan JA, Shashi V, Jiang YH, Stong N, Fiala E, Willing M, Pfundt R, Kleefstra T, Cho MT, McLaughlin H, Rosello Piera M, Orellana C, Martnez F, Caro-Llopis A, Monfort S, Roscioli T, Nixon CY, Buckley MF, Turner A, Jones WD, van Hasselt PM, Hofstede FC, van Gassen KLI, Brooks AS, van Slegtenhorst MA, Lachlan K, Sebastian J, Madan-Khetarpal S, Sonal D, Sakkubai N, Thevenon J, Faivre L, Maurel A, Petrovski S, Krantz ID, Tarpinian JM, Rosenfeld JA, Lee BH, Undiagnosed Diseases Network Moretti P Campeau PM (2019). Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay. 2019 Jan 3;104(1):164-178. PMID: 30580808. Am J Hum Genet.
64. Reuter CM, Kohler JN, Bonner D, Zastrow D, Fernandez L, Dries A, Marwaha S, Davidson J, Brokamp E, Herzog M, Hong J, Macnamara E, Rosenfeld JA, Schoch K, Spillmann R, Undiagnosed Diseases Network Moretti P, Loscalzo J, Krier J, Stoler J, Sweetser D, Palmer CGS, Phillips JA, Shashi V, Adams DA, Yang Y, Ashley EA, Fisher PG, Mulvihill JJ, Bernstein JA, Wheeler MT (2018). Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing. 2019 Dec;28(6):1107-1118. PMID: 31478310. J Genet Couns.
65. Handoko M, Emrick LT, Rosenfeld JA, Wang X, Tran AA, Turner A, Belmont JW, Undiagnosed Diseases Network Moretti P, Lee BH, Bacino CA, Chao HT (2018). Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature. Am J Med Genet A, 179(3), 475-479.
66. Ng BG, Rosenfeld JA, Emrick L, Jain M, Burrage LC, Lee B, Undiagnosed Diseases Network members Moretti P, Craigen WJ, Bearden DR, Graham BH, Freeze HH (2018). Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation. 2018 Dec 6;103(6):1030-1037. PMID: 30503518. Am J Hum Genet.
67. Shashi V, Magiera MM, Klein D, Zaki M, Schoch K, Rudnik-Schneborn S, Norman A, Lopes Abath Neto O, Dusl M, Yuan X, Bartesaghi L, De Marco P, Alfares AA, Marom R, Arold ST, Guzmn-Vega FJ, Pena LD, Smith EC, Steinlin M, Babiker MO, Mohassel P, Foley AR, Donkervoort S, Kaur R, Ghosh PS, Stanley V, Musaev D, Nava C, Mignot C, Keren B, Scala M, Tassano E, Picco P, Doneda P, Fiorillo C, Issa MY, Alassiri A, Alahmad A, Gerard A, Liu P, Yang Y, Ertl-Wagner B, Kranz PG, Wentzensen IM, Stucka R, Stong N, Allen AS, Goldstein DB, Undiagnosed Diseases Network members Moretti P, Schoser B, Rsler KM, Alfadhel M, Capra V, Chrast R, Strom TM, Kamsteeg EJ, Bnnemann CG, Gleeson JG, Martini R, Janke C, Senderek J (2018). Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration. 2018 Dec 3;37(23). PMID: 30420557. EMBO J.
68. Splinter K, Adams DR, Bacino CA, Bellen HJ, Bernstein JA, Cheatle-Jarvela AM, Eng CM, Esteves C, Gahl WA, Hamid R, Jacob HJ, Kikani B, Koeller DM, Kohane IS, Lee BH, Loscalzo J, Luo X, McCray AT, Metz TO, Mulvihill JJ, Nelson SF, Palmer CGS, Phillips JA 3rd, Pick L, Postlethwait JH, Reuter C, Shashi V, Sweetser DA, Tifft CJ, Walley NM, Wangler MF, Westerfield M, Wheeler MT, Wise AL, Worthey EA, Yamamoto S, Ashley EA, Undiagnosed Diseases Network Moretti P (2018). Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. . N Engl J Med, 379(22), 2131-2139.
69. Ferreira CR, Xia ZJ, Clment A, Parry DA, Davids M, Taylan F, Sharma P, Turgeon CT, Blanco-Snchez B, Ng BG, Logan CV, Wolfe LA, Solomon BD, Cho MT, Douglas G, Carvalho DR, Bratke H, Haug MG, Phillips JB, Wegner J, Tiemeyer M, Aoki K, Undiagnosed Diseases Network Moretti P Scottish Genome Partnership Nordgren A, Hammarsj A, Duker AL, Rohena L, Hove HB, Ek J, Adams D, Tifft CJ, Onyekweli T, Weixel T, Macnamara E, Radtke K, Powis Z, Earl D, Gabriel M, Russi AHS, Brick L, Kozenko M, Tham E, Raymond KM, Phillips JA 3rd, Tiller GE, Wilson WG, Hamid R, Malicdan MCV, Nishimura G, Grigelioniene G, Jackson A, Westerfield M, Bober MB, Gahl WA, Freeze HH (2018). A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. 2018 Oct 4;103(4):553-567. PMID: 30290151. Am J Hum Genet.
70. Johnston JJ, van der Smagt JJ, Rosenfeld JA, Pagnamenta AT, Alswaid A, Baker EH, Blair E, Borck G, Brinkmann J, Craigen W, Dung VC, Emrick L, Everman DB, van Gassen KL, Gulsuner S, Harr MH, Jain M, Kuechler A, Leppig KA, McDonald-McGinn DM, Can NTB, Peleg A, Roeder ER, Rogers RC, Sagi-Dain L, Sapp JC, Schffer AA, Schanze D, Stewart H, Taylor JC, Verbeek NE, Walkiewicz MA, Zackai EH, Zweier C, Members of the Undiagnosed Diseases Network Moretti P Zenker M, Lee B, Biesecker LG (2018). Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 2018 Oct;20(10):1175-1185. PMID: 29469822. Genet Med.
71. Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martnez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM Jr, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K, Program for Undiagnosed Diseases UD-PrOZA Undiagnosed Diseases Network Moretti P Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM (2018). IRF2BPLIs Associated with Neurological Phenotypes. 2018 Sep 6;103(3):456. PMID: 30193138. Am J Hum Genet.
72. Tan QK, Cope H, Spillmann RC, Stong N, Jiang YH, McDonald MT, Rothman JA, Butler MW, Frush DP, Lachman RS, Lee B, Bacino CA, Bonner MJ, McCall CM, Pendse AA, Walley N, Undiagnosed Diseases Network Moretti P Shashi V, Pena LDM (2018). Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features. 2018 Oct;4(5). PMID: 29970384. Cold Spring Harb Mol Case Stud.
73. Palmer CGS, McConkie-Rosell A, Holm IA, LeBlanc K, Sinsheimer JS, Briere LC, Dorrani N, Herzog MR, Lincoln S, Schoch K, Spillmann RC, Brokamp E, Undiagnosed Diseases Network Moretti P (2018). Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network. 2018 Sep;27(5):1087-1101. PMID: 29497923. J Genet Couns.
74. Komal FNU, Moretti P, Shaibani AI (2018). Deoxyguanosine kinase mutation producing juvenile-onset mitochondrial myopathy. Neurol Genet, 4(5), e269.
75. 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.
76. 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.
77. 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.
78. 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.
79. 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.
80. 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.
81. 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.
82. 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).
83. 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.
84. 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.
85. 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.
86. 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.
87. 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.
88. 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.
89. 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.
90. 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.
91. Komal FNU, Moretti P, Shaibani AI (2018). Deoxyguanosine kinase mutation producing juvenile-onset mitochondrial myopathy. 2018 4(5), e269. PMID: 30283818. Neurol Genet.
92. 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.
93. 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.
94. 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.
95. 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.
96. 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.
97. 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.
98. 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.
99. 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.
100. 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.
101. 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.
102. 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.
103. 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.
104. 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.
105. 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.
106. 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.
107. 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.
108. 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.
109. 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.
110. 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.
111. 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.
112. 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.
113. 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.
114. 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.
115. 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.
116. 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.
117. 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.
118. 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.
119. 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.
120. 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.
121. 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.
122. 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.
123. 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.
124. 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.
125. 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.
126. 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.
127. 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.
128. 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.
129. 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.
130. 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.
131. 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.
132. 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.
133. 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.
134. 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.
135. Ausoni S, De Nardi C, Moretti P, Gorza L, Schiaffino S (1991). Developmental Expression of Rat Cardiac Troponin I mRNA. Development, 112, 1041-51.
136. 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.

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.