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Gerarda Cappuccio

TitlePostdoc Fellows and Associates
InstitutionBaylor College of Medicine
DepartmentPostDoc
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Xu Y, Song R, Perszyk RE, Chen W, Kim S, Park KL, Allen JP, Nocilla KA, Zhang J, XiangWei W, Tankovic A, McDaniels ED, Sheikh R, Mizu RK, Karamchandani MM, Hu C, Kusumoto H, Pecha J, Cappuccio G, Gaitanis J, Sullivan J, Shashi V, Petrovski S, Jauss RT, Lee HK, Bozarth X, Lynch DR, Helbig I, Pierson TM, Boerkoel CF, Myers SJ, Lemke JR, Benke TA, Yuan H, Traynelis SF. De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor. Cell Mol Life Sci. 2024 Mar 28; 81(1):153. PMID: 38538865; PMCID: PMC10973091.
      Citations:    Fields:    Translation:HumansCells
    2. Juli?-Palacios N, Olivella M, Sigatullina Bondarenko M, Ib??ez-Mic? S, Mu?oz-Cabello B, Alonso-Luengo O, Soto-Insuga V, Garc?a-Navas D, Cuesta-Herraiz L, Andreo-Lillo P, Aguilera-Albesa S, Hedrera-Fern?ndez A, Gonz?lez Alguacil E, S?nchez-Carpintero R, Mart?n Del Valle F, Jim?nez Gonz?lez E, Cean Cabrera L, Medina-Rivera I, Perez-Ordo?ez M, Colom? R, Lopez L, Engracia Cazorla M, Fornaguera M, Ormazabal A, Alonso-Colmenero I, Illescas KS, Balsells-Mej?a S, Mari-Vico R, Duffo Vi?as M, Cappuccio G, Terrone G, Romano R, Manti F, Mastrangelo M, Alfonsi C, de Siqueira Barros B, Nizon M, Gjerulfsen CE, L Muro V, Karall D, Zeiner F, Masnada S, Peterlongo I, Oyarz?bal A, Santos-G?mez A, Altafaj X, Garc?a-Cazorla ?. L-serine treatment in patients with GRIN-related encephalopathy: A phase 2A, non-randomized study. Brain. 2024 Feb 21. PMID: 38380699.
      Citations:    Fields:    
    3. Wang HH, Lin LL, Li ZJ, Wei X, Askander O, Cappuccio G, Hashem MO, Hubert L, Munnich A, Alqahtani M, Pang Q, Burmeister M, Lu Y, Poirier K, Besmond C, Sun S, Brunetti-Pierri N, Alkuraya FS, Qi L, Wang HH, Lin LL, Li ZJ, Wei X, Askander O, Cappuccio G, Hashem MO, Hubert L, Munnich A, Alqahtani M, Pang Q, Burmeister M, Lu Y, Poirier K, Besmond C, Sun S, Brunetti-Pierri N, Alkuraya FS, Qi L. Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders. J Clin Invest. 2024 Jan 16; 134(2). PMID: 37943610; PMCID: PMC10786691.
      Citations: 3     Fields:    Translation:HumansAnimalsCells
    4. Mendonca D, Cappuccio G, Sheppard J, Delacruz M, Bengtsson J, Carvalho CMB, Bajic A, Park H, Kim JJ, Jafar-Nejad P, Coquery C, Pehlivan D, Suter B, Maletic-Savatic M. Generation of five induced pluripotent stem cell lines from patients with MECP2 Duplication Syndrome. Stem Cell Res. 2024 02; 74:103292. PMID: 38154383; PMCID: PMC10898976.
      Citations:    Fields:    Translation:HumansCells
    5. Saettini F, Guerra F, Fazio G, Bugarin C, McMillan HJ, Ohtake A, Ardissone A, Itoh M, Giglio S, Cappuccio G, Giardino G, Romano R, Quadri M, Gasperini S, Moratto D, Chiarini M, Ishiguro A, Fukuhara Y, Hayakawa I, Okazaki Y, Mauri M, Piazza R, Cazzaniga G, Biondi A. Correction to: Antibody Deficiency in Patients with Biallelic KARS1 Mutations. J Clin Immunol. 2023 Nov; 43(8):2126. PMID: 37921915.
      Citations:    Fields:    
    6. LaFlamme CW, Rastin C, Sengupta S, Pennington HE, Russ-Hall SJ, Schneider AL, Bonkowski ES, Almanza Fuerte EP, Galey M, Goffena J, Gibson SB, Allan TJ, Nyaga DM, Lieffering N, Hebbar M, Walker EV, Darnell D, Olsen SR, Kolekar P, Djekidel N, Rosikiewicz W, McConkey H, Kerkhof J, Levy MA, Relator R, Lev D, Lerman-Sagie T, Park KL, Alders M, Cappuccio G, Chatron N, Demain L, Genevieve D, Lesca G, Roscioli T, Sanlaville D, Tedder ML, Hubshman MW, Ketkar S, Dai H, Worley KC, Rosenfeld JA, Chao HT, Undiagnosed Diseases Network, Neale G, Carvill GL, University of Washington Center for Rare Disease Research, Wang Z, Berkovic SF, Sadleir LG, Miller DE, Scheffer IE, Sadikovic B, Mefford HC. Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature. medRxiv. 2023 Oct 12. PMID: 37873138; PMCID: PMC10592992.
      Citations:    
    7. Saettini F, Guerra F, Fazio G, Bugarin C, McMillan HJ, Ohtake A, Ardissone A, Itoh M, Giglio S, Cappuccio G, Giardino G, Romano R, Quadri M, Gasperini S, Moratto D, Chiarini M, Akira I, Fukuhara Y, Hayakawa I, Okazaki Y, Mauri M, Piazza R, Cazzaniga G, Biondi A. Antibody Deficiency in Patients with Biallelic KARS1 Mutations. J Clin Immunol. 2023 Nov; 43(8):2115-2125. PMID: 37770806.
      Citations:    Fields:    Translation:Humans
    8. Cappuccio G, Khalil SM, Osenberg S, Li F, Maletic-Savatic M. Mass spectrometry imaging as an emerging tool for studying metabolism in human brain organoids. Front Mol Biosci. 2023; 10:1181965. PMID: 37304070; PMCID: PMC10251497.
      Citations:    
    9. Rossi A, Blok LS, Neuser S, Kl?ckner C, Platzer K, Faivre LO, Weigand H, Dentici ML, Tartaglia M, Niceta M, Alfieri P, Srivastava S, Coulter D, Smith L, Vinorum K, Cappuccio G, Brunetti-Pierri N, Torun D, Arslan M, Lauridsen MF, Murch O, Irving R, Lynch SA, Mehta SG, Carmichael J, Zonneveld-Huijssoon E, de Vries B, Kleefstra T, Johannesen KM, Westphall IT, Hughes SS, Smithson S, Evans J, Dudding-Byth T, Simon M, van Binsbergen E, Herkert JC, Beunders G, Oppermann H, Bakal M, M?ller RS, Rubboli G, Bayat A. POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum. Clin Genet. 2023 08; 104(2):186-197. PMID: 37165752; PMCID: PMC10330344.
      Citations: 1     Fields:    Translation:Humans
    10. Xie L, McDaniel MJ, Perszyk RE, Kim S, Cappuccio G, Shapiro KA, Mu?oz-Cabello B, Sanchez-Lara PA, Grand K, Zhang J, Nocilla KA, Sheikh R, Armengol L, Romano R, Pierson TM, Yuan H, Myers SJ, Traynelis SF. Functional effects of disease-associated variants reveal that the S1-M1 linker of the NMDA receptor critically controls channel opening. Cell Mol Life Sci. 2023 Mar 31; 80(4):110. PMID: 37000222; PMCID: PMC10641759.
      Citations: 1     Fields:    Translation:Humans
    11. Van Haute L, O'Connor E, D?az-Maldonado H, Munro B, Polavarapu K, Hock DH, Arunachal G, Athanasiou-Fragkouli A, Bardhan M, Barth M, Bonneau D, Brunetti-Pierri N, Cappuccio G, Caruana NJ, Dominik N, Goel H, Helman G, Houlden H, Lenaers G, Mention K, Murphy D, Nandeesh B, Olimpio C, Powell CA, Preethish-Kumar V, Procaccio V, Rius R, Rebelo-Guiomar P, Simons C, Vengalil S, Zaki MS, Ziegler A, Thorburn DR, Stroud DA, Maroofian R, Christodoulou J, Gustafsson C, Nalini A, Lochm?ller H, Minczuk M, Horvath R. TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. Nat Commun. 2023 02 23; 14(1):1009. PMID: 36823193; PMCID: PMC9950373.
      Citations: 1     Fields:    Translation:HumansAnimalsCells
    12. Levy MA, Relator R, McConkey H, Pranckeviciene E, Kerkhof J, Barat-Houari M, Bargiacchi S, Biamino E, Cappuccio G, Clarke A, DuPont BR, Elting MW, Fee T, Fletcher RS, Cherick F, Foroutan A, Friez MJ, Haghshenas S, Hilton BA, Jenkins Z, Kaur S, Lewis S, Louie RJ, Maitz S, Milani D, Morgan AT, Oegema R, Pallares NR, Piccione M, Plomp AS, Poulton C, Reilly J, Rius R, Robertson S, Rooney K, Rousseau J, Santen GWE, Santos-Simarro F, Schijns J, Squeo GM, John MS, Traficante G, van der Sluijs PJ, Vergano SA, Vos N, Walden KK, Azmanov D, Balci TB, Banka S, Gecz J, Henneman P, Lee JA, Mannens MMAM, Roscioli T, Siu V, Amor DJ, Baynam G, Bend EG, Boycott K, Brunetti-Pierri N, Campeau PM, Christodoulou J, Dyment D, Esber N, Fahrner JA, Fleming MD, Genevieve D, Kernohan KD, McNeill A, Menke LA, Merla G, Prontera P, Rockman-Greenberg C, Schwartz C, Skinner SA, Stevenson RE, Alders M, Tedder ML, Sadikovic B, Palomares Bralo M, Ciolfi A, Faivre L, Ferilli M, Gervasini C, ?stergaard E, Thauvin-Robinet C, Campion D, Heron D, Husson T, Vincent M, Vitobello A, Tartaglia M. Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders. Hum Mutat. 2022 11; 43(11):1609-1628. PMID: 35904121.
      Citations:    Fields:    
    13. Jia X, Zhang S, Tan S, Du B, He M, Qin H, Chen J, Duan X, Luo J, Chen F, Ouyang L, Wang J, Chen G, Yu B, Zhang G, Zhang Z, Lyu Y, Huang Y, Jiao J, Chen JYH, Swoboda KJ, Agolini E, Novelli A, Leoni C, Zampino G, Cappuccio G, Brunetti-Pierri N, Gerard B, Ginglinger E, Richer J, McMillan H, White-Brown A, Hoekzema K, Bernier RA, Kurtz-Nelson EC, Earl RK, Meddens C, Alders M, Fuchs M, Caumes R, Brunelle P, Smol T, Kuehl R, Day-Salvatore DL, Monaghan KG, Morrow MM, Eichler EE, Hu Z, Yuan L, Tan J, Xia K, Shen Y, Guo H. De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders. Sci Adv. 2022 08 19; 8(33):eabo7112. PMID: 35977029; PMCID: PMC9385150.
      Citations:    
    14. Cappuccio G, De Bernardi ML, Morlando A, Peduto C, Scala I, Pinelli M, Gallo FG, Magli A, Plaitano C, Torella A, Nigro V, Brunetti-Pierri N, Bellacchio E, Serrano M, P?as L, Catal? J, Bolasell M, Zanni G. Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder. Am J Med Genet A. 2022 Oct; 188(10):3032-3040. PMID: 35876338; PMCID: PMC9545381.
      Citations:    Fields:    
    15. Romano F, Falco M, Cappuccio G, Brunetti-Pierri N, Lonardo F, Torella A, Garavelli L, Accogli A, TUDP, Striano P, Scarano G, Nigro V, Scala M, Capra V, Digilio MC, Dentici ML, Alfieri P, Agolini E, Novelli A. Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review. Birth Defects Res. 2022 08 01; 114(13):759-767. PMID: 35716097; PMCID: PMC9545659.
      Citations:    Fields:    
    16. Cappuccio G, Brillante S, Tammaro R, Pinelli M, De Bernardi ML, Gensini MG, Bijlsma EK, Koopmann TT, Hoffer MJV, McDonald K, Hendon LG, Douzgou S, Deshpande C, D'Arrigo S, Torella A, Nigro V, Franco B, Brunetti-Pierri N. Biallelic variants in CENPF causing a phenotype distinct from Str?mme syndrome. Am J Med Genet C Semin Med Genet. 2022 03; 190(1):102-108. PMID: 35488810; PMCID: PMC9322429.
      Citations:    Fields:    Translation:Humans
    17. De Bernardi ML, Di Stazio A, Romano A, Minardi R, Bisulli F, Licchetta L, Aiello S, Carelli V, Brunetti-Pierri N, Cappuccio G, Terrone G. Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant. Eur J Med Genet. 2022 May; 65(5):104500. PMID: 35367634.
      Citations:    Fields:    Translation:Humans
    18. Leoni C, Melis D, Maitz S, Selicorni A, Zampino G, Onesimo R, Cappuccio G, Garavelli L, Memo L, Morando C, Della Monica M, Accadia M, Piscopo C, Cereda A, Di Giacomo MC, Saletti V, Spinelli AM, Lastella P, Tenconi R, Dvorakova V, Irvine AD, Mussa A, Iacoviello M, Carli D, Ranieri C, Pantaleo A, Buonuomo PS, Bagnulo R, Ferrero GB, Bartuli A, Loconte DC, Turchiano A, Piglionica M, De Luisi A, Susca FC, Bukvic N, Forleo C, Novelli C, Capurso M, Resta N. Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants. J Med Genet. 2023 02; 60(2):163-173. PMID: 35256403.
      Citations: 2     Fields:    
    19. van Geest FS, Groeneweg S, van den Akker ELT, Bacos I, Barca D, van den Berg SAA, Bertini E, Brunner D, Brunetti-Pierri N, Cappa M, Cappuccio G, Chatterjee K, Chesover AD, Christian P, Craiu D, Crock P, Dewey C, Dica A, Dimitri P, Dubey R, Fairchild J, Gallichan J, Garibaldi LR, George B, Huynh T, Klosowska A, Lawson-Yuen A, Linder-Lucht M, Lyons G, Moran C, Paone L, Paul PG, Reinauer C, de Rijke YB, Seckold R, Menevse TS, Simm P, Simon A, Szeifert L, Tonduti D, van Toor H, Turan S, Vanderniet J, de Waart M, van der Wal R, van der Walt A, van Wermeskerken AM, Wierzba J, Zibordi F, Zung A, Peeters RP, Visser WE, Coutant R, Enderli A, Hackenberg A, Heinrich B, Monti Lora F, M?ller KE, Polak M, Porta F, Spada M, Stoupa A. Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study. J Clin Endocrinol Metab. 2022 02 17; 107(3):e1136-e1147. PMID: 34679181; PMCID: PMC8852204.
      Citations: 1     Fields:    Translation:Humans
    20. Taylor J, Spiller M, Ranguin K, Cappuccio G, Brunetti-Pierri N, Willems M, Park K, Balasubramanian M, Vitobello A, Philippe C, Bruel AL, Isidor B. Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature. Am J Med Genet A. 2022 05; 188(5):1497-1514. PMID: 35138025; PMCID: PMC9305207.
      Citations: 1     Fields:    Translation:Humans
    21. Dohrn MF, Rebelo AP, Srivastava S, Cappuccio G, Smigiel R, Malhotra A, Basel D, van de Laar I, Neuteboom RF, Aarts-Tesselaar C, Mahida S, Brunetti-Pierri N, Taft RJ, Z?chner S. De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome. Neurology. 2022 03 15; 98(11):440-445. PMID: 35110381; PMCID: PMC8935442.
      Citations:    Fields:    Translation:Humans
    22. Cappuccio G, Brunetti-Pierri N, Clift P, Learn C, Dykes JC, Mercer CL, Callewaert B, Meerschaut I, Spinelli AM, Bruno I, Gillespie MJ, Dorfman AT, Grimberg A, Lindsay ME, Lin AE. Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects. Am J Med Genet A. 2022 05; 188(5):1384-1395. PMID: 35025139.
      Citations:    Fields:    Translation:Humans
    23. Levy MA, McConkey H, Kerkhof J, Barat-Houari M, Bargiacchi S, Biamino E, Cappuccio G, Clarke A, DuPont BR, Elting MW, Fee T, Fletcher RS, Cherik F, Foroutan A, Friez MJ, Haghshenas S, Hilton BA, Jenkins Z, Kaur S, Lewis S, Louie RJ, Maitz S, Milani D, Morgan AT, Oegema R, Pallares NR, Piccione M, Plomp AS, Poulton C, Reilly J, Relator R, Rius R, Robertson S, Rooney K, Rousseau J, Santen GWE, Santos-Simarro F, Schijns J, Squeo GM, St John M, Traficante G, van der Sluijs PJ, Vergano SA, Vos N, Walden KK, Azmanov D, Balci T, Banka S, Gecz J, Henneman P, Lee JA, Mannens MMAM, Roscioli T, Siu V, Amor DJ, Baynam G, Bend EG, Boycott K, Brunetti-Pierri N, Campeau PM, Christodoulou J, Dyment D, Esber N, Fahrner JA, Fleming MD, Genevieve D, Kerrnohan KD, McNeill A, Menke LA, Merla G, Prontera P, Rockman-Greenberg C, Schwartz C, Skinner SA, Stevenson RE, Alders M, Tedder ML, Sadikovic B, Bralo MP, Ciolfi A, Faivre L, Gervasini C, ?stergaard E, Pizzi S, Thauvin-Robinet C, Vitobello A, Tartaglia M. Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders. HGG Adv. 2022 Jan 13; 3(1):100075. PMID: 35047860; PMCID: PMC8756545.
      Citations: 3     
    24. Troisi S, Maitz S, Severino M, Spano A, Cappuccio G, Brunetti-Pierri N, Torella A, Nigro V, Bilo L, Coppola A. Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature. Eur J Med Genet. 2022 Jan; 65(1):104380. PMID: 34748993.
      Citations:    Fields:    Translation:Humans
    25. Kushary ST, Revah-Politi A, Barua S, Ganapathi M, Accogli A, Aggarwal V, Brunetti-Pierri N, Cappuccio G, Capra V, Fagerberg CR, Gazdagh G, Guzman E, Hadonou M, Harrison V, Havelund K, Iancu D, Kraus A, Lippa NC, Mansukhani M, McBrian D, McEntagart M, Pottinger C, Ruivenkamp CAL, Sacco O, Santen GWE, Scala M, Short J, Woods CG, DDD Study, TUDP Consortium, Anyane Yeboa K, Pacio-M?guez M, Palomares-Bralo M, Santos-Simarro F, S?rensen KP. ZTTK syndrome: Clinical and molecular findings of?15 cases and a review of the literature. Am J Med Genet A. 2021 12; 185(12):3740-3753. PMID: 34331327; PMCID: PMC8595531.
      Citations: 1     Fields:    Translation:Humans
    26. Di Candia F, Fontana P, Paglia P, Falco M, Rosano C, Piscopo C, Cappuccio G, Siano MA, De Brasi D, Mandato C, De Maggio I, Squeo GM, Monica MD, Scarano G, Lonardo F, Strisciuglio P, Merla G, Melis D. Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature. Eur J Pediatr. 2022 Jan; 181(1):171-187. PMID: 34232366; PMCID: PMC8760211.
      Citations:    Fields:    Translation:Humans
    27. Cappuccio G, Tedeschi E, Brunetti-Pierri N, Banfi S, Brunetti-Pierri R, Karali M, Testa F, Onore ME, Romano F, De Rosa G, Simonelli F. Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic MKS1 Truncating Variants. Diagnostics (Basel). 2021 Jul 06; 11(7). PMID: 34359301; PMCID: PMC8303764.
      Citations:    
    28. Tan NB, Pagnamenta AT, Ferla MP, Gadian J, Chung BH, Chan MC, Fung JL, Cook E, Guter S, Heinen A, Schallner J, Mittag D, Demmer L, Stapleton R, Saida K, Matsumoto N, Miyake N, Sheffer R, Mor-Shaked H, Barnett CP, Byrne AB, Scott HS, Kraus A, Cappuccio G, Brunetti-Pierri N, Iorio R, Di Dato F, Pais LS, Yeung A, Tan TY, Taylor JC, Christodoulou J, White SM, Boschann F, Mignot C, Keren B, Whalen S, Sarret C. Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability. J Med Genet. 2022 05; 59(5):511-516. PMID: 34183358.
      Citations:    Fields:    Translation:Humans
    29. Cappuccio G, Ceccatelli Berti C, Baruffini E, Sullivan J, Shashi V, Jewett T, Stamper T, Maitz S, Revah-Politi A, Kupchik GS, Anyane-Yeboa K, Aggarwal V, Benneche A, Bratland E, Berland S, D'Arco F, Alves CA, Vanderver A, Torella A, Nigro V, Telethon Undiagnosed Diseases Program, D'Amico A, van der Knaap MS, Goffrini P, Brunetti-Pierri N, Canonico F, Longo D, Bertini E. Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease. Hum Mutat. 2021 06; 42(6):745-761. PMID: 33942428; PMCID: PMC8251883.
      Citations: 2     Fields:    Translation:HumansAnimalsCells
    30. Voisin N, Schnur RE, Douzgou S, Hiatt SM, Rustad CF, Brown NJ, Earl DL, Levchenko O, Verheyen S, Johnson D, Zarate YA, Amor DJ, Bebin EM, Blatterer J, Cappuccio G, Charrow J, Chatron N, Cooper GM, Dadali E, Delafontaine J, Del Giudice E, Douglas G, Funari T, Giannuzzi G, Gruber-Sedlmayr U, Guex N, Hurst ACE, Juusola J, Kronn D, Lavrov A, Lee C, Merckoll E, Mikhaleva A, Norman J, Pradervand S, Rhodes L, Sanders VR, Seebacher HA, Sellars EA, Sirchia F, Takenouchi T, Tanaka AJ, Taska-Tench H, Tveten K, Vitiello G, Uehara T, Kosaki K, Donnai D, Brunetti-Pierri N, Chung WK, Reymond A, Keren B, Geuer S, Hanc?rov? M, Brusco A, Courtin T, Doco M, Eisenk?lbl A, Heron D, Holla ?L, Lorrain S, Prchalov? D, Sedl?cek Z, T?nne E, Vlckov? M, Nava C, Yalcin B, Mundlos S. Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. Am J Hum Genet. 2021 05 06; 108(5):857-873. PMID: 33961779; PMCID: PMC8206167.
      Citations: 4     Fields:    Translation:HumansAnimalsCells
    31. Rots D, Chater-Diehl E, Dingemans AJM, Goodman SJ, Siu MT, Cytrynbaum C, Choufani S, Hoang N, Walker S, Awamleh Z, Charkow J, Meyn S, Pfundt R, Rinne T, Gardeitchik T, de Vries BBA, Deden AC, Leenders E, Kwint M, Stumpel CTRM, Stevens SJC, Vermeulen JR, van Harssel JVT, Bosch DGM, van Gassen KLI, van Binsbergen E, de Geus CM, Brackel H, Hempel M, Lessel D, Denecke J, Slavotinek A, Strober J, Crunk A, Folk L, Wentzensen IM, Yang H, Zou F, Millan F, Person R, Xie Y, Liu S, Ousager LB, Larsen M, Schultz-Rogers L, Morava E, Klee EW, Berry IR, Campbell J, Lindstrom K, Pruniski B, Neumeyer AM, Radley JA, Phornphutkul C, Schmidt B, Wilson WG, Reinson K, Pajusalu S, van Haeringen A, Ruivenkamp C, Cuperus R, Ritter A, Bhoj E, Tveten K, Cappuccio G, Brunetti-Pierri N, Rowe L, Bunn J, Saenz M, Platzer K, Mertens M, Caluseriu O, Nowaczyk MJM, Cohn RD, Kannu P, Alkhunaizi E, Chitayat D, Scherer SW, Brunner HG, Vissers LELM, Kleefstra T, Koolen DA, Weksberg R, ?unap K, Santos-Simarro F, Palomares-Bralo M, Pacio-M?guez M, T?nne E. Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature. Am J Hum Genet. 2021 06 03; 108(6):1053-1068. PMID: 33909990; PMCID: PMC8206150.
      Citations: 9     Fields:    Translation:HumansCells
    32. McEntagart M, Clayton-Smith J, Platzer K, Shukla A, Girisha KM, Kaur A, Kaur P, Pfundt R, Veenstra-Knol H, Mancini GMS, Cappuccio G, Brunetti-Pierri N, Hempel M, Denecke J, Lehman A, CAUSES Study, Kleefstra T, Stuurman KE, Wilke M, Thompson ML, Bebin EM, Bijlsma EK, Hoffer MJV, Peeters-Scholte C, Slavotinek A, Weiss WA, Yip T, Hodoglugil U, Whittle A, diMonda J, Neira J, Yang S, Kirby A, Pinz H, Lechner R, Sleutels F, Helbig I, McKeown S, Helbig K, Willaert R, Juusola J, Semotok J, Hadonou M, Short J, Genomics England Research Consortium, Yachelevich N, Lala S, Kamphausen SB, Abou Jamra R, Arelin M, Innes AM, Niskakoski A, Amin S, Williams M, Evans J, Smithson S, Smedley D, de Burca A, Kini U, Delatycki MB, Gallacher L, Yeung A, Pais L, Field M, Martin E, Iascone M, Cereda A, Poke G, Parthasarathy P, Halliday BJ, Robertson SP, Chopra M, Kort?m F, Fern?ndez-Jaen A, Pelayo JP, Kl?ckner C, Charles P, Courtin T, Keren B, Abadie V, Chalouhi C, Lyonnet S, Amiel J, Gordon CT. Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism. Am J Hum Genet. 2021 06 03; 108(6):1138-1150. PMID: 33909992; PMCID: PMC8206162.
      Citations: 2     Fields:    Translation:HumansCells
    33. Sadler B, Wilborn J, Antunes L, Kuensting T, Hale AT, Gannon SR, McCall K, Cruchaga C, Harms M, Voisin N, Reymond A, Cappuccio G, Brunetti-Pierri N, Tartaglia M, Niceta M, Leoni C, Zampino G, Ashley-Koch A, Urbizu A, Garrett ME, Soldano K, Macaya A, Conrad D, Strahle J, Dobbs MB, Turner TN, Shannon CN, Brockmeyer D, Limbrick DD, Gurnett CA, Haller G. Rare and de novo coding variants in chromodomain genes in Chiari I malformation. Am J Hum Genet. 2021 Mar 04; 108(3):530-531. PMID: 33667397; PMCID: PMC8008482.
      Citations: 1     Fields:    
    34. Cappuccio G, Genesio R, Pignataro P, Brunetti-Pierri N. Peculiar footprints in a child with agenesis of corpus callosum. J Paediatr Child Health. 2021 03; 57(3):450-451. PMID: 33728780.
      Citations:    Fields:    
    35. Sadler B, Wilborn J, Antunes L, Kuensting T, Hale AT, Gannon SR, McCall K, Cruchaga C, Harms M, Voisin N, Reymond A, Cappuccio G, Brunetti-Pierri N, Tartaglia M, Niceta M, Leoni C, Zampino G, Ashley-Koch A, Urbizu A, Garrett ME, Soldano K, Macaya A, Conrad D, Strahle J, Dobbs MB, Turner TN, Shannon CN, Brockmeyer D, Limbrick DD, Gurnett CA, Haller G. Rare and de novo coding variants in chromodomain genes in Chiari I malformation. Am J Hum Genet. 2021 Feb 04; 108(2):368. PMID: 33545031; PMCID: PMC7895838.
      Citations: 1     Fields:    
    36. van Geest FS, Meima ME, Stuurman KE, Wolf NI, van der Knaap MS, Vairo F, Brunetti-Pierri N, Cappuccio G, Bakhtiani P, de Munnik SA, Peeters RP, Visser WE, Groeneweg S, Lorea CF, Poswar FO. Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case Series. J Clin Endocrinol Metab. 2021 01 23; 106(2):539-553. PMID: 33141165; PMCID: PMC7823235.
      Citations: 1     Fields:    Translation:Humans
    37. Cappuccio G, Caiazza M, Roca A, Melis D, Iuliano A, Matyas G, Rubino M, Limongelli G, Brunetti-Pierri N. A pilot clinical trial with losartan in Myhre syndrome. Am J Med Genet A. 2021 03; 185(3):702-709. PMID: 33369056; PMCID: PMC7898344.
      Citations: 1     Fields:    Translation:HumansCTClinical Trials
    38. Sadler B, Wilborn J, Antunes L, Kuensting T, Hale AT, Gannon SR, McCall K, Cruchaga C, Harms M, Voisin N, Reymond A, Cappuccio G, Brunetti-Pierri N, Leoni C, Zampino G, Ashley-Koch A, Urbizu A, Garrett ME, Soldano K, Macaya A, Conrad D, Strahle J, Dobbs MB, Turner TN, Shannon CN, Brockmeyer D, Limbrick DD, Gurnett CA, Haller G, Tartaglia M, Niceta M. Rare and de novo coding variants in chromodomain genes in Chiari I malformation. Am J Hum Genet. 2021 01 07; 108(1):100-114. PMID: 33352116; PMCID: PMC7820723.
      Citations: 2     Fields:    Translation:HumansAnimals
    39. Schneider AL, Myers CT, Muir AM, Calvert S, Basinger A, Perry MS, Rodan L, Helbig KL, Chambers C, Gorman KM, King MD, Donkervoort S, Soldatos A, Arellano M, Cappuccio G, Brunetti-Pierri N, Rossignol E, Hamdan FF, Michaud JL, Balak C, Mefford HC, Scheffer IE, B?nnemann CG, Spataro N, Gabau E. FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability. Epilepsia. 2021 01; 62(1):e13-e21. PMID: 33280099.
      Citations: 2     Fields:    Translation:Humans
    40. Cappuccio G, Alagia M, Brunetti-Pierri N. Corrigendum to "A systematic cross-sectional survey of multiple sulfatase deficiency" [Mol Genet Metab. 2020 Aug;130(4):283-288]. Mol Genet Metab. 2020 Sep - Oct; 131(1-2):284. PMID: 33144036.
      Citations:    Fields:    
    41. Wang T, Hoekzema K, Wu H, Sulovari A, Coe BP, Gillentine MA, Wilfert AB, Perez-Jurado LA, Kvarnung M, Sleyp Y, Earl RK, Rosenfeld JA, Geisheker MR, Han L, Du B, Barnett C, Thompson E, Shaw M, Carroll R, Friend K, Catford R, Palmer EE, Zou X, Ou J, Li H, Guo H, Gerdts J, Avola E, Calabrese G, Elia M, Greco D, Lindstrand A, Nordgren A, Anderlid BM, Vandeweyer G, Van Dijck A, Van der Aa N, McKenna B, Hancarova M, Bendova S, Havlovicova M, Malerba G, Bernardina BD, Muglia P, van Haeringen A, Hoffer MJV, Franke B, Cappuccio G, Delatycki M, Lockhart PJ, Manning MA, Liu P, Scheffer IE, Brunetti-Pierri N, Rommelse N, Amaral DG, Santen GWE, Trabetti E, Michaelson JJ, Pierce K, Courchesne E, Kooy RF, SPARK Consortium, Romano C, Peeters H, Bernier RA, Gecz J, Xia K, Eichler EE, Vecchio D, Sedl?cek Z, Nordenskj?ld M. Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. Nat Commun. 2020 Oct 21; 11(1):5398. PMID: 33087701; PMCID: PMC7578800.
      Citations:    Fields:    
    42. Wang T, Hoekzema K, Wu H, Sulovari A, Coe BP, Gillentine MA, Wilfert AB, Perez-Jurado LA, Kvarnung M, Sleyp Y, Earl RK, Rosenfeld JA, Geisheker MR, Han L, Du B, Barnett C, Thompson E, Shaw M, Carroll R, Friend K, Catford R, Palmer EE, Zou X, Ou J, Li H, Guo H, Gerdts J, Avola E, Calabrese G, Elia M, Greco D, Lindstrand A, Nordgren A, Anderlid BM, Vandeweyer G, Van Dijck A, Van der Aa N, McKenna B, Hancarova M, Bendova S, Havlovicova M, Malerba G, Bernardina BD, Muglia P, van Haeringen A, Hoffer MJV, Franke B, Cappuccio G, Delatycki M, Lockhart PJ, Manning MA, Liu P, Scheffer IE, Brunetti-Pierri N, Rommelse N, Amaral DG, Santen GWE, Trabetti E, Michaelson JJ, Pierce K, Courchesne E, Kooy RF, SPARK Consortium, Romano C, Peeters H, Bernier RA, Gecz J, Xia K, Eichler EE, Vecchio D, Sedl?cek Z, Nordenskj?ld M. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. Nat Commun. 2020 10 01; 11(1):4932. PMID: 33004838; PMCID: PMC7530681.
      Citations: 29     Fields:    Translation:Humans
    43. Tekendo-Ngongang C, Owosela B, Fleischer N, Addissie YA, Malonga B, Badoe E, Gupta N, Ashaat EA, Hussen DF, Luk HM, Lo IFM, Hon-Yin Chung B, Fung JLF, Jones KL, Abdul-Rahman OA, Uwineza A, Prijoles EJ, Ifeorah IK, Llamos Paneque A, Sirisena ND, Dowsett L, Lee S, Cappuccio G, Kitchin CS, Thong MK, Mutesa L, Dissanayake VHW, El Ruby MO, Brunetti-Pierri N, Ekure EN, Stevenson RE, Muenke M, Kruszka P, Moresco A, Huckstadt V, Moretti-Ferreira D, Batista LC, Lotz-Esquivel S, Saborio-Rocafort M, Badilla-Porras R, Penon Portmann M, Diaz-Kuan A, Obregon MG. Rubinstein-Taybi syndrome in diverse populations. Am J Med Genet A. 2020 12; 182(12):2939-2950. PMID: 32985117.
      Citations: 2     Fields:    Translation:Humans
    44. Bedoni N, Quinodoz M, Pinelli M, Cappuccio G, Torella A, Nigro V, Testa F, Simonelli F, TUDP (Telethon Undiagnosed Disease Program), Lualdi S, Lanza F, Morana G, Di Rocco M, Filocamo M, Banfi S, Brunetti-Pierri N, Superti-Furga A, Rivolta C, Corton M, Ayuso C. An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs. Hum Mol Genet. 2020 08 03; 29(13):2250-2260. PMID: 32533184.
      Citations: 7     Fields:    Translation:HumansAnimals
    45. Kaur S, Van Bergen NJ, Verhey KJ, Nowell CJ, Budaitis B, Yue Y, Ellaway C, Brunetti-Pierri N, Cappuccio G, Bruno I, Boyle L, Nigro V, Torella A, Roscioli T, Cowley MJ, Massey S, Sonawane R, Burton MD, Schonewolf-Greulich B, Chung WK, Gold WA, Christodoulou J, T?mer Z. Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A). Hum Mutat. 2020 10; 41(10):1761-1774. PMID: 32652677; PMCID: PMC7908811.
      Citations: 8     Fields:    Translation:Humans
    46. Cappuccio G, Sayou C, Tanno PL, Kennani SE, Low KJ, Dias C, Eichler EE, Van-Gils J, Yamamoto T, Okamoto N, Firth H, Metcalfe K, Moh A, Chapman KA, Aref-Eshghi E, Kerkhof J, Torella A, Nigro V, George-Abraham JK, Buchanan CA, Williams D, Kini U, Wilson K, Telethon Undiagnosed Diseases Program, Hennekam RCM, Sadikovic B, Thevenon J, Brunetti-Pierri N, Tisserant E, Bruel AL, S? J, Havlovicov? M, Hanc?rov? M, Devillard F, Moutton S, Dubourg C, Odent S, Gerard B, Piton A, Perrin L, Piard J, Le Guyader G, Jouan T, Thauvin-Robinet C, Duffourd Y, Sousa SB, Govin J, Vitobello A. De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome. Genet Med. 2020 11; 22(11):1838-1850. PMID: 32694869.
      Citations: 9     Fields:    Translation:Humans
    47. Groeneweg S, van Geest FS, Abaci A, Alcantud A, Ambegaonkar GP, Armour CM, Bakhtiani P, Barca D, Bertini ES, van Beynum IM, Brunetti-Pierri N, Bugiani M, Cappa M, Cappuccio G, Castellotti B, Castiglioni C, Chatterjee K, de Coo IFM, Craiu D, Crock P, DeGoede C, Demir K, Dica A, Dimitri P, Dremmen MHG, Dubey R, Fairchild J, Gallichan J, George B, Gevers EF, Huynh T, Klosowska A, van der Knaap MS, van der Knoop MM, Konrad D, Koolen DA, Lawson-Yuen A, Lebl J, Linder-Lucht M, Lunsing RJ, Lyons G, Malikova J, Mancilla EE, McGowan A, Mericq V, Moran C, Oliver-Petit I, Paone L, Paul PG, Polak M, Reinauer C, Rozenkova K, Menevse TS, Simm P, Simon A, Singh Y, van der Spek J, Stals MAM, Stoupa A, Subramanian GM, Tonduti D, Turan S, den Uil CA, Vanderniet J, van der Walt A, Wierzba J, de Wit MY, Wolf NI, Wurm M, Zibordi F, Zung A, Zwaveling-Soonawala N, Visser WE, Coutant R, Dolcetta-Capuzzo A, Enderli A, Hackenberg A, Hal?sz Z, Heinrich B, Krude H, Lorea CF, Louren?o CM, Lora FM, M?ller KE, Porta F, Poswar FO, Spada M, W?meau JL. Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study. Lancet Diabetes Endocrinol. 2020 07; 8(7):594-605. PMID: 32559475; PMCID: PMC7611932.
      Citations: 10     Fields:    Translation:Humans
    48. Barillari MR, Karali M, Di Iorio V, Contaldo M, Piccolo V, Esposito M, Costa G, Argenziano G, Serpico R, Carotenuto M, Cappuccio G, Banfi S, Melillo P, Simonelli F. Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in PEX1: Detailed clinical investigation in a 9-years-old female. Mol Genet Metab Rep. 2020 Sep; 24:100615. PMID: 32596134; PMCID: PMC7306489.
      Citations: 3     
    49. Cappuccio G, Alagia M, Brunetti-Pierri N. A systematic cross-sectional survey of multiple sulfatase deficiency. Mol Genet Metab. 2020 08; 130(4):283-288. PMID: 32620537.
      Citations: 2     Fields:    Translation:Humans
    50. Cappuccio G, Apuzzo D, Passalacqua P, Parrini E, D'Amico A, Montini T, Brunetti-Pierri N. Long-term follow-up of an individual with ITPR1-related disorder. Am J Med Genet A. 2020 07; 182(7):1846-1847. PMID: 32496011.
      Citations:    Fields:    Translation:Humans
    51. Macke EL, Brunetti-Pierri N, Suri M, Josephs KS, McEntagart M, Lanpher B, Nickels KC, Haworth A, Reed L, Cappuccio G, Mammi I, Tarnowski JM, Deciphering Developmental Disorders Study, Callewaert B, Klee E, Cordeddu V, Radio FC, Lo Cicero S, Pantaleoni F, Tatti M, Bellacchio E, Ciolfi A, Agolini E, Bruselles A, Novelli A, Melis D, Dallapiccola B, Tartaglia M. Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome. Clin Genet. 2020 08; 98(2):172-178. PMID: 32415735.
      Citations: 3     Fields:    Translation:Humans
    52. Pinelli M, Terrone G, Troglio F, Squeo GM, Cappuccio G, Imperati F, Pignataro P, Genesio R, Nitch L, Del Giudice E, Merla G, Testa G, Brunetti-Pierri N. A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability. Clin Genet. 2020 06; 97(6):940-942. PMID: 32349160; PMCID: PMC7318190.
      Citations:    Fields:    Translation:HumansCells
    53. Cappuccio G, Apuzzo D, Alagia M, Torella A, Pinelli M, Franco B, Corrado B, Del Giudice E, D'Amico A, Nigro V, TUDP, Brunetti-Pierri N. Expansion of the phenotype of lateral meningocele syndrome. Am J Med Genet A. 2020 05; 182(5):1259-1262. PMID: 32141180; PMCID: PMC7217177.
      Citations: 4     Fields:    Translation:Humans
    54. Apuzzo D, Cappuccio G, Vaisanen T, Alagia M, Pignataro P, Genesio R, Brunetti-Pierri N. Two cases of 16q12.1q21 deletions and refinement of the critical region. Eur J Med Genet. 2020 Jun; 63(6):103878. PMID: 32045705.
      Citations:    Fields:    Translation:HumansCells
    55. Alagia M, Cappuccio G, Torella A, D'Amico A, Mazio F, Romano A, Fecarotta S, Casari G, Nigro V, TUDP, Brunetti-Pierri N. Cavitating and tigroid-like leukoencephalopathy in a case of NDUFA2-related disorder. JIMD Rep. 2020 Mar; 52(1):11-16. PMID: 32154054; PMCID: PMC7052689.
      Citations: 3     
    56. Mendes MI, Green LMC, Bertini E, Tonduti D, Aiello C, Smith D, Salsano E, Beerepoot S, Hertecant J, von Spiczak S, Livingston JH, Emrick L, Fraser J, Russell L, Bernard G, Magri S, Di Bella D, Taroni F, Koenig MK, Moroni I, Cappuccio G, Brunetti-Pierri N, Rhee J, Mendelsohn BA, Helbig I, Helbig K, Muhle H, Ismayl O, Vanderver AL, Salomons GS, van der Knaap MS, Wolf NI. RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum. Ann Clin Transl Neurol. 2020 01; 7(1):83-93. PMID: 31814314; PMCID: PMC6952319.
      Citations: 9     Fields:    Translation:Humans
    57. Cappuccio G, Donti T, Pinelli M, Bernardo P, Bravaccio C, Elsea SH, Brunetti-Pierri N. Sphingolipid Metabolism Perturbations in Rett Syndrome. Metabolites. 2019 Oct 10; 9(10). PMID: 31658741; PMCID: PMC6835521.
      Citations: 6     
    58. Magini P, Smits DJ, Vandervore L, Schot R, Columbaro M, Kasteleijn E, van der Ent M, Palombo F, Lequin MH, Dremmen M, de Wit MCY, Severino M, Divizia MT, Striano P, Ordonez-Herrera N, Alhashem A, Al Fares A, Al Ghamdi M, Rolfs A, Bauer P, Demmers J, Verheijen FW, Wilke M, van Slegtenhorst M, van der Spek PJ, Seri M, Jansen AC, Stottmann RW, Hufnagel RB, Hopkin RJ, Aljeaid D, Wiszniewski W, Gawlinski P, Laure-Kamionowska M, Alkuraya FS, Akleh H, Stanley V, Musaev D, Gleeson JG, Zaki MS, Brunetti-Pierri N, Cappuccio G, Davidov B, Basel-Salmon L, Bazak L, Shahar NR, Bertoli-Avella A, Mirzaa GM, Dobyns WB, Pippucci T, Fornerod M, Mancini GMS. Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. Am J Hum Genet. 2019 10 03; 105(4):689-705. PMID: 31495489; PMCID: PMC6817560.
      Citations: 12     Fields:    Translation:HumansCells
    59. Haijes HA, Koster MJE, Rehmann H, Li D, Hakonarson H, Cappuccio G, Hancarova M, Lehalle D, Reardon W, Schaefer GB, Lehman A, van de Laar IMBH, Tesselaar CD, Turner C, Thevenon J, Pinelli M, Brunetti-Pierri N, Lopez E, Ragoussis V, Pagnamenta AT, Kini U, Vos HR, van Es RM, van Schaik RFMA, van Essen TAJ, Kibaek M, Taylor JC, Sullivan J, Shashi V, Petrovski S, Fagerberg C, Martin DM, van Gassen KLI, Pfundt R, Falk MJ, McCormick EM, Timmers HTM, van Hasselt PM, Goldenberg A, Patrier S, Prchalov? D, Havlovicov? M, Vlckova M, Sedl?cek Z. De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia. Am J Hum Genet. 2019 08 01; 105(2):283-301. PMID: 31353023; PMCID: PMC6699192.
      Citations: 13     Fields:    Translation:HumansAnimalsCells
    60. Paine I, Posey JE, Grochowski CM, Jhangiani SN, Rosenheck S, Kleyner R, Marmorale T, Yoon M, Wang K, Robison R, Cappuccio G, Pinelli M, Magli A, Coban Akdemir Z, Hui J, Yeung WL, Wong BKY, Ortega L, Bekheirnia MR, Bierhals T, Hempel M, Johannsen J, Aktas D, Alikasifoglu M, Bozdogan S, Aydin H, Karaca E, Bayram Y, Ityel H, Dorschner M, White JJ, Casella EB, Kitajima JP, Kok F, Monteiro F, Muzny DM, Bamshad M, Gibbs RA, Sutton VR, University of Washington Center for Mendelian Genomics, Baylor-Hopkins Center for Mendelian Genomics, Van Esch H, Brunetti-Pierri N, Hildebrandt F, Brautbar A, Van den Veyver IB, Glass I, Lessel D, Lyon GJ, Lupski JR, Santer R, Wilichowski E, Wortmann SB. Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet. 2019 08 01; 105(2):302-316. PMID: 31256877; PMCID: PMC6698803.
      Citations: 16     Fields:    Translation:Humans
    61. Cappuccio G, Attanasio S, Alagia M, Mutarelli M, Borzone R, Karali M, Genesio R, Mormile A, Nitsch L, Imperati F, Esposito A, Banfi S, Del Giudice E, Brunetti-Pierri N. Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder. Eur J Hum Genet. 2019 09; 27(9):1475-1480. PMID: 31152157; PMCID: PMC6777536.
      Citations: 4     Fields:    Translation:HumansCells
    62. Cappuccio G, Ugga L, Parrini E, D'Amico A, Brunetti-Pierri N. Severe presentation and complex brain malformations in an individual carrying a CCND2 variant. Mol Genet Genomic Med. 2019 06; 7(6):e708. PMID: 31056854; PMCID: PMC6565554.
      Citations: 5     Fields:    Translation:Humans
    63. Cappuccio G, Brunetti-Pierri R, Torella A, Pinelli M, Castello R, Casari G, Nigro V, Banfi S, Simonelli F, TUDP, Brunetti-Pierri N. Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4. Mol Genet Genomic Med. 2019 06; 7(6):e682. PMID: 30973214; PMCID: PMC6565552.
      Citations: 4     Fields:    Translation:Humans
    64. Scala M, Torella A, Severino M, Morana G, Castello R, Accogli A, Verrico A, Vari MS, Cappuccio G, Pinelli M, Vitiello G, Terrone G, D'Amico A, TUDP consortium, Nigro V, Capra V. Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females. Eur J Hum Genet. 2019 08; 27(8):1254-1259. PMID: 30936465; PMCID: PMC6777618.
      Citations: 13     Fields:    Translation:Humans
    65. Cappuccio G, Donti TR, Hubert L, Sun Q, Elsea SH. Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights. J Inherit Metab Dis. 2019 05; 42(3):509-518. PMID: 30684275; PMCID: PMC8564860.
      Citations:    Fields:    Translation:HumansCells
    66. Bernardo P, Raiano E, Cappuccio G, Dubbioso R, Bravaccio C, Vergara E, Peluso S, Manganelli F, Esposito M. The Treatment of Hypersalivation in Rett Syndrome with Botulinum Toxin: Efficacy and Clinical Implications. Neurol Ther. 2019 Jun; 8(1):155-160. PMID: 30617838; PMCID: PMC6534622.
      Citations: 2     
    67. Torella A, Mastrangelo M, Carducci C, Nigro V, TUDP, Leuzzi V, Cappuccio G, Brunetti-Pierri N. AP1S2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency. Acta Paediatr. 2019 03; 108(3):564-565. PMID: 30383884.
      Citations:    Fields:    Translation:Humans
    68. Cappuccio G, Bernardo P, Pinelli M, Alagia M, Della Casa R, Strisciuglio P, Brunetti-Pierri N, Bravaccio C, Raiano E, Esposito M. Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders. Acta Paediatr. 2019 01; 108(1):171-172. PMID: 30216533.
      Citations:    Fields:    Translation:Humans
    69. Alagia M, Cappuccio G, Pinelli M, Torella A, Brunetti-Pierri R, Simonelli F, Limongelli G, Oppido G, Nigro V, Brunetti-Pierri N, TUDP. A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot. Am J Med Genet A. 2018 02; 176(2):426-430. PMID: 29230941; PMCID: PMC5814867.
      Citations: 5     Fields:    Translation:Humans
    70. Cappuccio G, Pinelli M, Torella A, Vitiello G, D'Amico A, Alagia M, Del Giudice E, Nigro V, TUDP, Brunetti-Pierri N. An extremely severe phenotype attributed to WDR81 nonsense mutations. Ann Neurol. 2017 10; 82(4):650-651. PMID: 28972664.
      Citations: 5     Fields:    Translation:Humans
    71. Cappuccio G, Pinelli M, Alagia M, Donti T, Day-Salvatore DL, Veggiotti P, De Giorgis V, Lunghi S, Vari MS, Striano P, Brunetti-Pierri N, Kennedy AD, Elsea SH. Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet. PLoS One. 2017; 12(9):e0184022. PMID: 28961260; PMCID: PMC5621665.
      Citations: 12     Fields:    Translation:Humans
    72. Cappuccio G, Alagia M, D'Anna M, Ranieri C, Di Tommaso S, Bruno C, Fiorillo C, Pedemonte M, Loconte D, Della Casa R, Strisciuglio P, Ginocchio MI, Pinelli M, Resta N, Brunetti-Pierri N. Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder. Eur J Med Genet. 2017 Dec; 60(12):655-657. PMID: 28867506.
      Citations:    Fields:    Translation:HumansCells
    73. Cappuccio G, Pinelli M, Torella A, Alagia M, Auricchio R, Staiano A, Nigro V, TUDP, Brunetti-Pierri N. Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation. Am J Med Genet A. 2017 Oct; 173(10):2743-2746. PMID: 28767192.
      Citations: 8     Fields:    Translation:Humans
    74. Cappuccio G, Atwal PS, Donti TR, Ugarte K, Merchant N, Craigen WJ, Sutton VR, Elsea SH. Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine. JIMD Rep. 2017; 35:33-37. PMID: 27900673; PMCID: PMC5585109.
      Citations: 2     
    75. Donti TR, Cappuccio G, Hubert L, Neira J, Atwal PS, Miller MJ, Cardon AL, Sutton VR, Porter BE, Baumer FM, Wangler MF, Sun Q, Emrick LT, Elsea SH. Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum. Mol Genet Metab Rep. 2016 Sep; 8:61-6. PMID: 27504266; PMCID: PMC4969260.
      Citations: 25     
    76. Cappuccio G, Vitiello F, Casertano A, Fontana P, Genesio R, Bruzzese D, Ginocchio VM, Mormile A, Nitsch L, Andria G, Melis D. New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants. Ital J Pediatr. 2016 Apr 12; 42:39. PMID: 27072107; PMCID: PMC4830019.
      Citations: 8     Fields:    Translation:Humans
    77. Terrone G, Voisin N, Abdullah Alfaiz A, Cappuccio G, Vitiello G, Guex N, D'Amico A, James Barkovich A, Brunetti-Pierri N, Del Giudice E, Reymond A. De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia. Eur J Hum Genet. 2016 08; 24(9):1359-62. PMID: 26860062; PMCID: PMC4989218.
      Citations: 10     Fields:    Translation:Humans
    78. Tufano M, Cappuccio G, Terrone G, Manganelli F, Pisciotta C, Geroldi A, Capponi S, Del Giudice E. Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy. J Peripher Nerv Syst. 2015 Dec; 20(4):415-8. PMID: 26307494.
      Citations: 7     Fields:    Translation:Humans
    79. Cappuccio G, Cozzolino C, Frisso G, Romanelli R, Parenti G, D'Amico A, Carotenuto B, Salvatore F, Del Giudice E. Pearls & oy-sters: familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency. Neurology. 2014 Jul 15; 83(3):e41-4. PMID: 25024447.
      Citations: 3     Fields:    Translation:Humans
    80. Cappuccio G, Rossi A, Fontana P, Acampora E, Avolio V, Merla G, Zelante L, Secinaro A, Andria G, Melis D. Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene. BMC Med Genet. 2014 Jan 28; 15:15. PMID: 24472332; PMCID: PMC3925134.
      Citations: 3     Fields:    Translation:Humans
    81. Fontana P, Genesio R, Casertano A, Cappuccio G, Mormile A, Nitsch L, Iolascon A, Andria G, Melis D. Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene. Gene. 2014 Mar 15; 538(1):69-73. PMID: 24440784.
      Citations: 7     Fields:    Translation:Humans
    82. Cappuccio G, Genesio R, Ronga V, Casertano A, Izzo A, Riccio MP, Bravaccio C, Salerno MC, Nitsch L, Andria G, Melis D. Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: genotype-phenotype correlation and literature review. Am J Med Genet A. 2014 Mar; 164A(3):753-9. PMID: 24357330.
      Citations: 5     Fields:    Translation:Humans
    83. Terrone G, Cappuccio G, Genesio R, Esposito A, Fiorentino V, Riccitelli M, Nitsch L, Brunetti-Pierri N, Del Giudice E. A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome. Am J Med Genet A. 2014 Jan; 164A(1):190-3. PMID: 24243641.
      Citations: 7     Fields:    Translation:HumansCells
    84. Cappuccio G, De Crescenzo A, Ciancia G, Canta L, Moio M, Mataro I, Varone V, Pettinato G, Palumbo O, Carella M, Riccio A, Brunetti-Pierri N. Giant breast tumors in a patient with Beckwith-Wiedemann syndrome. Am J Med Genet A. 2014 Jan; 164A(1):182-5. PMID: 24214456.
      Citations: 4     Fields:    Translation:HumansCells
    85. Melis D, Cappuccio G, Ginocchio VM, Minopoli G, Valli M, Corradi M, Andria G. Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type? Ital J Pediatr. 2012 Nov 16; 38:65. PMID: 23158907; PMCID: PMC3545852.
      Citations: 5     Fields:    Translation:Humans
    86. Cappuccio G, Brunetti-Pierri N, Terrone G, Romano A, Andria G, Del Giudice E. Low-dose amitriptyline-induced acute dystonia in a patient with metachromatic leukodystrophy. JIMD Rep. 2013; 9:113-116. PMID: 23430556; PMCID: PMC3565674.
      Citations:    
    87. Cappuccio G, Brunetti-Pierri N. Focal congenital lipoatrophy and vascular malformation: a mild form of inverse Klippel-Trenaunay syndrome? Eur J Med Genet. 2012 Dec; 55(12):705-7. PMID: 23000147.
      Citations: 2     Fields:    Translation:Humans
    88. Melis D, Genesio R, Boemio P, Del Giudice E, Cappuccio G, Mormile A, Ronga V, Conti A, Imperati F, Nitsch L, Andria G. Clinical description of a patient carrying the smallest reported deletion involving 10p14 region. Am J Med Genet A. 2012 Apr; 158A(4):832-5. PMID: 22407589.
      Citations: 14     Fields:    Translation:HumansCells
    89. Genesio R, Melis D, Gatto S, Izzo A, Ronga V, Cappuccio G, Lanzo A, Andria G, D'Esposito M, Matarazzo MR, Conti A, Nitsch L. Variegated silencing through epigenetic modifications of a large Xq region in a case of balanced X;2 translocation with Incontinentia Pigmenti-like phenotype. Epigenetics. 2011 Oct 01; 6(10):1242-7. PMID: 21931280.
      Citations: 6     Fields:    Translation:HumansCells
    90. Melis D, Genesio R, Cappuccio G, MariaGinocchio V, Casa RD, Menna G, Buffardi S, Poggi V, Leszle A, Imperati F, Carella M, Izzo A, Del Giudice E, Nitsch L, Andria G. Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22. Am J Med Genet A. 2011 Jul; 155A(7):1697-705. PMID: 21671372.
      Citations: 5     Fields:    Translation:HumansCells
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