Genomic monitoring unveil the early detection of the SARS-CoV-2 B.1.351 (beta) variant (20H/501Y.V2) in Brazil

Autores

Svetoslav N Slavov, José S L Patané , Rafael Dos Santos Bezerra, Marta Giovanetti Vagner Fonseca Antonio J Martins , Vincent L Viala , Evandra S Rodrigues, Elaine V Santos, Claudia R S Barros , Elaine C Marqueze , Bibiana Santos Flavia Aburjaile Raul M Neto , Debora B Moretti , Ricardo Haddad , Rodrigo T Calado João P Kitajima Erika Freitas David Schlesinger Luiz C Junior de Alcantara Maria C Elias , Sandra C Sampaio , Simone Kashima, Dimas T Covas

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Early role for a Na +,K +-ATPase ( ATP1A3) in brain development

Autores

Richard S Smith , Marta Florio Shyam K Akula Jennifer E Neil , Yidi Wang , R Sean Hill , Melissa Goldman Christopher D Mullally Nora Reed Luis Bello-Espinosa Laura Flores-Sarnat Fabiola Paoli Monteiro Casella B Erasmo0, Filippo Pinto E Vairo Eva Morava0, A James Barkovich Joseph Gonzalez-Heydrich Catherine A Brownstein , Steven A McCarroll Christopher A Walsh

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Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with RPE65-related leber congenital amaurosis

Autores

Fabiana Louise Motta, Rafael Filippelli-Silva , Joao Paulo Kitajima Denise A Batista Elizabeth S Wohler Nara L Sobreira Renan Paulo Martin Juliana Maria Ferraz Sallum

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MECP2-related conditions in males: A systematic literature review and 8 additional cases

Autores

Luciana Midori Inuzuka, Matheus Guerra-Peixe , Lúcia Inês Macedo-Souza , Christiane Cobas Pedreira Juliana Gurgel-Gianetti Fabiola Paoli Monteiro Luiza Ramos Larissa Athayde Costa Ana Chrystina de Souza Crippa Charles Marques Lourenco Daniela Viana Pachito Lucia Sukys-Claudino Leonardo Salvador Gaspar Sergio Antonio Antoniuk Luis Paulo de Souza Dutra Sabrina Stephanie Lana Diniz Rafaelle Batistella Pires Eliana Garzon0, Fernando Kok

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A Novel Multisystem Proteinopathy Caused by a Missense ANXA11 Variant

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Tauana Bernardes Leoni, Carelis González-Salazar, Thiago Junqueira R Rezende, Ana Luisa C Hernández, Alexandre Hilário B Mattos, Antônio Rodrigues Coimbra Neto, Felipe Franco da Graça, João Pedro Nunes Gonçalves, Alberto R M Martinez, Lucas Taniguti , João Paulo Kitajima , Fernando Kok Fábio Rogério André Macedo Serafim da Silva Alexandre Leite Rodrigues de Oliveira Edmar Zanoteli Anamarli Nucci, Marcondes C França Jr

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Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis

Autores

Payam Mohassel, Sandra Donkervoort #, Museer A Lone # , Matthew Nalls #, Kenneth Gable # Sita D Gupta # A Reghan Foley, Ying Hu, Jonas Alex Morales Saute Ana Lucila Moreira Fernando Kok Alessandro Introna Giancarlo Logroscino Christopher Grunseich Alec R Nickolls, Naemeh Pourshafie Sarah B Neuhaus, Dimah Saade, Andrea Gangfuß0, Heike Kölbel0, Zoe Piccus, Claire E Le Pichon, Chiara Fiorillo, Cindy V LyAna Töpf Lauren Brady Sabine Specht Aliza Zidell Helio Pedro Eric Mittelmann Florian P Thomas Katherine R Chao Chamindra G Konersman , Megan T Cho , Tracy Brandt , Volker Straub Anne M Connolly , Ulrike Schara0, Andreas Roos0, Mark Tarnopolsky Ahmet Höke Robert H Brown Chia-Hsueh Lee Thorsten Hornemann , Teresa M Dunn Carsten G Bönnemann

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The fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant

Autores

Franciele Cabral Pinheiro Rodrigo Ligabue-Braun Ana Cecília Menezes de Siqueira Camila Matuella , Carolina Fischinger Moura de Souza Fabíola Paoli Monteiro Fernando Kok Ida Vanessa Doederlein Schwartz Fernanda Sperb-Ludwig

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Retinal Architecture in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Insights into Disease Pathogenesis and Biomarkers

Autores

Flávio Moura Rezende Filho, Fion Bremner , José Luiz Pedroso, João Brainer Clares de Andrade, Bruna Ferraço Marianelli Charles Marques Lourenço Wilson Marques-Júnior Marcondes C França Jr Fernando Kok Juliana M F Sallum Michael H Parkinson Orlando G Barsottini, Paola Giunti

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SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

Autores

Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, Bruselles A, McConkey H, Stellacci E, Lo Cicero S, Motta M, Carrozzo R, Dentici ML, McWalter K, Desai M, Monaghan KG, Telegrafi A, Philippe C, Vitobello A, Au M, Grand K, Sanchez-Lara PA, Baez J, Lindstrom K, Kulch P, Sebastian J, Madan-Khetarpal S, Roadhouse C, MacKenzie JJ, Monteleone B, Saunders CJ, Jean Cuevas JK, Cross L, Zhou D, Hartley T, Sawyer SL, Monteiro FP, Secches TV, Kok F, Schultz-Rogers LE, Macke EL, Morava E, Klee EW, Kemppainen J, Iascone M, Selicorni A, Tenconi R, Amor DJ, Pais L, Gallacher L, Turnpenny PD, Stals K, Ellard S, Cabet S, Lesca G, Pascal J, Steindl K, Ravid S, Weiss K, Castle AMR, Carter MT, Kalsner L, de Vries BBA, van Bon BW, Wevers MR, Pfundt R, Stegmann APA, Kerr B, Kingston HM, Chandler KE, Sheehan W, Elias AF, Shinde DN, Towne MC, Robin NH, Goodloe D, Vanderver A, Sherbini O, Bluske K, Hagelstrom RT, Zanus C, Faletra F, Musante L, Kurtz-Nelson EC, Earl RK, Anderlid BM, Morin G, van Slegtenhorst M, Diderich KEM, Brooks AS, Gribnau J, Boers RG, Finestra TR, Carter LB, Rauch A, Gasparini P, Boycott KM, Barakat TS, Graham JM Jr, Faivre L, Banka S, Wang T, Eichler EE, Priolo M, Dallapiccola B, Vissers LELM, Sadikovic B, Scott DA, Holder JL Jr, Tartaglia M.

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Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

Autores

den Hoed J, de Boer E, Voisin N, Dingemans AJM, Guex N, Wiel L, Nellaker C, Amudhavalli SM, Banka S, Bena FS, Ben-Zeev B, Bonagura VR, Bruel AL, Brunet T, Brunner HG, Chew HB, Chrast J, Cimbalistienė L, Coon H; DDD Study, Délot EC, Démurger F, Denommé-Pichon AS, Depienne C, Donnai D, Dyment DA, Elpeleg O, Faivre L, Gilissen C, Granger L, Haber B, Hachiya Y, Abedi YH, Hanebeck J, Hehir-Kwa JY, Horist B, Itai T, Jackson A, Jewell R, Jones KL, Joss S, Kashii H, Kato M, Kattentidt-Mouravieva AA, Kok F, Kotzaeridou U, Krishnamurthy V, Kučinskas V, Kuechler A, Lavillaureix A, Liu P, Manwaring L, Matsumoto N, Mazel B, McWalter K, Meiner V, Mikati MA, Miyatake S, Mizuguchi T, Moey LH, Mohammed S, Mor-Shaked H, Mountford H, Newbury-Ecob R, Odent S, Orec L, Osmond M, Palculict TB, Parker M, Petersen AK, Pfundt R, Preikšaitienė E, Radtke K, Ranza E, Rosenfeld JA, Santiago-Sim T, Schwager C, Sinnema M, Snijders Blok L, Spillmann RC, Stegmann APA, Thiffault I, Tran L, Vaknin-Dembinsky A, Vedovato-Dos-Santos JH, Schrier Vergano SA, Vilain E, Vitobello A, Wagner M, Waheeb A, Willing M, Zuccarelli B, Kini U, Newbury DF, Kleefstra T, Reymond A, Fisher SE, Vissers LELM.

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DDX58(RIG-I)-related disease is associated with tissue-specific interferon pathway activation

Autores

Prasov L, Bohnsack BL, El Husny AS, Tsoi LC, Guan B, Kahlenberg JM, Almeida E, Wang H, Cowen EW, De Jesus AA, Jani P, Billi AC, Moroi SE, Wasikowski R, Almeida I, Almeida LN, Kok F, Garnai SJ, Mian SI, Chen MY, Warner BM, Ferreira CR, Goldbach-Mansky R, Hur S, Brooks BP, Richards JE, Hufnagel RB, Gudjonsson JE.

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Parental germline mosaicism inSCN3A-related severe developmental disorder

Autores

Inuzuka LM, Macedo-Souza LI, Guerra-Peixe M, Cobas Pedreira C, Della-Ripa B, Souza Delgado D, Monteiro F, Kitajima JP, Garzon E, Kok F.

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Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay

Autores

Melo US, Bonner D, Kent Lloyd KC, Moshiri A, Willis B, Lanoue L, Bower L, Leonard BC, Martins DJ, Gomes F, de Souza Leite F, Oliveira D, Kitajima JP, Monteiro FP, Zatz M, Menck CFM, Wheeler MT, Bernstein JA, Dumas K, Spiteri E, Di Donato N, Jahn A, Hashem M, Alsaif HS, Chedrawi A, Alkuraya FS, Kok F, Byers HM.

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Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy

Autores

Mendonça RH, Matsui C Jr, Polido GJ, Silva AMS, Kulikowski L, Torchio Dias A, Zanardo EA, Solla DJF, Gurgel-Giannetti J, de Moura ACML, Sampaio GPC, Oliveira ASB, de Souza PVS, Pinto WBVR, Gonçalves EA, Farias IB, Nardes F, Araújo APQC, Marques W Jr, Tomaselli PJ, Ribeiro MDO, Kitajima JP, Paoli Monteiro F, Saute JAM, Becker MM, Saraiva-Pereira ML, Brusius-Facchin AC, van der Linden V, Florêncio RN, Barbosa AVS, Machado-Costa MC, Pessoa ALS, Souza LS, Franca MC Jr, Kok F, Reed UC, Zanoteli E.

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Extensive CFTR sequencing through NGS in Brazilian individuals with cystic fibrosis: unravelling regional discrepancies in the country

Autores

da Silva Filho LVRF, Maróstica PJC, Athanazio RA, Reis FJC, Damaceno N, Paes AT, Hira AY, Schlesinger D, Kok F, Amaral MD; Brazilian Cystic Fibrosis Patient Registry Contributors Team.

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Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy

Autores

Inuzuka LM, Macedo-Souza LI, Della-Ripa B, Monteiro FP, Ramos L, Kitajima JP, Garzon E, Kok F.

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A rare genomic duplication in 2p14 underlies autosomal dominant hearing loss DFNA58

Autores

Lezirovitz K, Vieira-Silva GA, Batissoco AC, Levy D, Kitajima JP, Trouillet A, Ouyang E, Zebarjadi N, Sampaio-Silva J, Pedroso-Campos V, Nascimento LR, Sonoda CY, Borges VM, Vasconcelos LG, Beck RMO, Grasel SS, Jagger DJ, Grillet N, Bento RF, Mingroni-Netto RC, Oiticica J.

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Application of Whole-Exome Sequencing in Detecting Copy Number Variants in Patients with Developmental Delay and/or Multiple Congenital Malformations

Autores

Zanardo ÉA, Monteiro FP, Chehimi SN, Oliveira YG, Dias AT, Costa LA, Ramos LL, Novo-Filho GM, Montenegro MM, Nascimento AM, Kitajima JP, Kok F, Kulikowski LD.

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ATP6V1B2 – related epileptic encephalopathy

Autores

Inuzuka LM, Macedo-Souza LI, Della-Rippa B, Monteiro FP, Delgado DS, Godoy LF, Ramos L, de Athayde Costa LS, Garzon E, Kok F.

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Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus

Autores

Wagner M, Lévy J, Jung-Klawitter S, Bakhtiari S, Monteiro F, Maroofian R, Bierhals T, Hempel M, Elmaleh-Bergès M, Kitajima JP, Kim CA, Salomao JG, Amor DJ, Cooper MS, Perrin L, Pipiras E, Neu A, Doosti M, Karimiani EG, Toosi MB, Houlden H, Jin SC, Si YC, Rodan LH, Venselaar H, Kruer MC, Kok F, Hoffmann GF, Strom TM, Wortmann SB, Tabet AC, Opladen T.

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Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: two new cases and review of the literature

Autores

Inuzuka LM, Macedo-Souza LI, Della-Ripa B, Cabral KSS, Monteiro F, Kitajima JP, de Souza Godoy LF, de Souza Delgado D, Kok F, Garzon E.

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Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations

Autores

Monteiro FP, Curry CJ, Hevner R, Elliott S, Fisher JH, Turocy J, Dobyns WB, Costa LA, Freitas E, Kitajima JP, Kok F.

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Paralog Studies Augment Gene Discovery: DDX and DHX Genes

Autores

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, Santer R, Aktas D, Alikasifoglu M, Bozdogan S, Aydin H, Karaca E, Bayram Y, Ityel H, Dorschner M, White JJ, Wilichowski E, Wortmann SB, 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, Telethon Undiagnosed Diseases Program, Van Esch H, Brunetti-Pierri N, Hildebrandt F, Brautbar A, Van den Veyver IB, Glass I, Lessel D, Lyon GJ, Lupski JR.

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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Autores

Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group, Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H.

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Heterozygous loss of function of NR4A2 is associated with intellectual deficiency, rolandic epilepsy, and language impairment

Autores

Ramos LLP, Monteiro FP, Sampaio LPB, Costa LA, Ribeiro MDO, Freitas EL, Kitajima JP, Kok F.

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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Autores

O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A; Deciphering Developmental Disorders (DDD) Study, Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH.

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Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS

Autores

Rezende Filho FM, Parkinson MH, Pedroso JL, Poh R, Faber I, Lourenço CM, Júnior WM, França Junior MC, Kok F, Sallum JMF, Giunti P, Barsottini OGP.

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De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies

Autores

Platzer K, Sticht H, Edwards SL, Allen W, Angione KM, Bonati MT, Brasington C, Cho MT, Demmer LA, Falik-Zaccai T, Gamble CN, Hellenbroich Y, Iascone M, Kok F, Mahida S, Mandel H, Marquardt T, McWalter K, Panis B, Pepler A, Pinz H, Ramos L, Shinde DN, Smith-Hicks C, Stegmann APA, Stöbe P, Stumpel CTRM, Wilson C, Lemke JR, Di Donato N, Miller KG, Jamra R.

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Clinical aspects of hereditary spastic paraplegia 76 and novel CAPN1 mutations

Autores

Melo US, Freua F, Lynch DS, Ripa BD, Tenorio RB, Saute JAM, de Souza Leite F, Kitajima J, Houlden H, Zatz M, Kok F.

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HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

Autores

Marini C, Porro A, Rastetter A, Dalle C, Rivolta I, Bauer D, Oegema R, Nava C, Parrini E, Mei D, Mercer C, Dhamija R, Chambers C, Coubes C, Thévenon J, Kuentz P, Julia S, Pasquier L, Dubourg C, Carré W, Rosati A, Melani F, Pisano T, Giardino M, Innes AM, Alembik Y, Scheidecker S, Santos M, Figueiroa S, Garrido C, Fusco C, Frattini D, Spagnoli C, Binda A, Granata T, Ragona F, Freri E, Franceschetti S, Canafoglia L, Castellotti B, Gellera C, Milanesi R, Mancardi MM, Clark DR, Kok F, Helbig KL, Ichikawa S, Sadler L, Neupauerová J, Laššuthova P, Šterbová K, Laridon A, Brilstra E, Koeleman B, Lemke JR, Zara F, Striano P, Soblet J, Smits G, Deconinck N, Barbuti A, DiFrancesco D, LeGuern E, Guerrini R, Santoro B, Hamacher K, Thiel G, Moroni A, DiFrancesco JC, Depienne C.

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Progressive Myoclonic Epilepsy Type 8 Due to CERS1 Deficiency: A Novel Mutation with Prominent Ataxia

Autores

Godeiro Junior CO, Vale TC, Afonso COM, Kok F, Pedroso JL, Barsottini OG.

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Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK-neurexin interaction

Autores

LaConte LEW, Chavan V, Elias AF, Hudson C, Schwanke C, Styren K, Shoof J, Kok F, Srivastava S, Mukherjee K.

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Characterization of a KCNB1 variant associated with autism, intellectual disability, and epilepsy

Autores

Calhoun JD, Vanoye CG, Kok F, George AL Jr, Kearney JA.

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Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder

Autores

Reis VN, Kitajima JP, Tahira AC, Feio-Dos-Santos AC, Fock RA, Lisboa BC, Simões SN, Krepischi AC, Rosenberg C, Lourenço NC, Passos-Bueno MR, Brentani H.

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One family, one gene and three phenotypes: A novel VCP (valosin-containing protein) mutation associated with myopathy with rimmed vacuoles, amyotrophic lateral sclerosis and frontotemporal dementia

Autores

Abrahao A, Abath Neto O, Kok F, Zanoteli E, Santos B, Pinto WB, Barsottini OG, Oliveira AS, Pedroso JL.

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SCA23 and prodynorphin: is it time for gene retraction?

Autores

Pedroso JL, Vale TC, Freua F, Barsottini OG, Kok F.

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A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability

Autores

Figueiredo T, Melo US, Pessoa AL, Nobrega PR, Kitajima JP, Rusch H, Vaz F, Lucato LT, Zatz M, Kok F, Santos S.

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Benign hereditary chorea related to NKX2-1 with ataxia and dystonia

Autores

de Gusmao CM, Kok F, Casella EB, Waugh JL.

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Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome

Autores

Melo US, Macedo-Souza LI, Figueiredo T, Muotri AR, Gleeson JG, Coux G, Armas P, Calcaterra NB, Kitajima JP, Amorim S, Olávio TR, Griesi-Oliveira K, Coatti GC, Rocha CR, Martins-Pinheiro M, Menck CF, Zaki MS, Kok F, Zatz M, Santos S.

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Expanding the Molecular and Clinical Phenotype of SSR4-CDG

Autores

Ng BG, Raymond K, Kircher M, Buckingham KJ, Wood T, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics, Wong JT, Monteiro FP, Graham BH, Jackson S, Sparkes R, Scheuerle AE, Cathey S, Kok F, Gibson JB, Freeze HH.

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Mutation in PNKP presenting initially as axonal Charcot-Marie-Tooth disease

Autores

Pedroso JL, Rocha CR, Macedo-Souza LI, De Mario V, Marques W Jr, Barsottini OG, Bulle Oliveira AS, Menck CF, Kok F.

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Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita

Autores

Ravenscroft G, Nolent F, Rajagopalan S, Meireles AM, Paavola KJ, Gaillard D, Alanio E, Buckland M, Arbuckle S, Krivanek M, Maluenda J, Pannell S, Gooding R, Ong RW, Allcock RJ, Carvalho ED, Carvalho MD, Kok F, Talbot WS, Melki J, Laing NG.

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Association of optic atrophy and type 1 diabetes: clinical hallmarks for the diagnosis of Wolfram syndrome

Autores

Pedroso JL, Lucato LT, Kok F, Sallum J, Barsottini OG, Oliveira AS.

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Fatty acid 2-hydroxylase deficiency: clinical features and brain iron accumulation

Autores

Pedroso JL, Handfas BW, Abrahão A, Kok F, Barsottini OG, Oliveira AS.

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Whole-Genome Sequence of a Bordetella pertussis Brazilian Vaccine Strain

Autores

Akamatsu MA, Nishiyama MY Jr, Morone M, Oliveira UC, Bezerra MF, Sakauchi MA, Raw I, Junqueira de Azevedo IL, Kitajima JP, Carvalho E, Ho PL.

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Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family

Autores

Figueiredo T, Melo US, Pessoa AL, Nobrega PR, Kitajima JP, Correa I, Zatz M, Kok F, Santos S.

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Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype

Autores

Sperb-Ludwig F, Alegra T, Velho RV, Ludwig N, Kim CA, Kok F, Kitajima JP, van Meel E, Kornfeld S, Burin MG, Schwartz IVD.

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A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G)

Autores

Vieira NM, Naslavsky MS, Licinio L, Kok F, Schlesinger D, Vainzof M, Sanchez N, Kitajima JP, Gal L, Cavaçana N, Serafini PR, Chuartzman S, Vasquez C, Mimbacas A, Nigro V, Pavanello RC, Schuldiner M, Kunkel LM, Zatz M.

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