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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.
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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.
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.
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.
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.
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.
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.
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.
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.
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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.
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.
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.
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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.
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.
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.
Shoeibi A, Litvan I, Juncos JL, Bordelon Y, Riley D, Standaert D, Reich SG, Shprecher D, Hall D, Marras C, Kluger B, Olfati N, Jankovic J (2019). Are the International Parkinson disease and Movement Disorder Society progressive supranuclear palsy (IPMDS-PSP) diagnostic criteria accurate enough to differentiate common PSP phenotypes? Parkinsonism Relat Disord, 69, 34-39.
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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.
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.
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.
Fernandez HH, Stamler D, Davis MD, Factor SA, Hauser RA, Jimenez-Shahed J, Ondo WG, Jarskog LF, Woods SW, Bega D, LeDoux MS, Shprecher DR, Anderson KE (2019). Long-term safety and efficacy of deutetrabenazine for the treatment of tardive dyskinesia. J Neurol Neurosurg Psychiatry, 90(12), 1317-1323.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Reilmann R, McGarry A, Grachev ID, Savola JM, Borowsky B, Eyal E, Gross NLangbehn D, Schubert R, Wickenberg AT, Papapetropoulos S, Hayden M, Squitieri F, Kieburtz K, Landwehrmeyer GB, European Huntingtons Disease Network, HuntingtonStudy Group investigators (2018 Dec 14 [Epub ahead of print]). Safety and efficacy of pridopidine in patients with Huntington's disease (PRIDE-HD): a phase 2, randomised, placebo-controlled, multicentre, dose-ranging study. Lancet Neurol.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Alshaikh J, Sudhakaran S, Rubeiz H (2018). Trigeminal Neuralgia. In Anitescu M (Ed.), Pain Management: A Problem-Based Learning Approach (1st Edition). New York, NY: Oxford University Press.
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.
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.
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.
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.
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.
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