Juan Clinton Llerena Junior

Dados pessoais

Lattes
Grupos de Pesquisa
Genealogia Acadêmica

Nacionalidade: Brasileira
Grande área de atuação: Ciências da Saúde
Área de atuação: Medicina

Publicações

Total: 599

Área temática ASJC

Percentual das publicações classificadas

HS Ciências da Saúde
LS Ciências da Vida
MU Multidisciplinar
PS Ciências Físicas
SH Ciências Sociais e Humanidades

Categoria ASJC

Categorias ASJC mais frequentes

Nome	Vínculo	Grande área de atuação	Área de atuação
Nome	Vínculo	Grande área de atuação	Área de atuação
Alexandra Maria Monteiro GRISOLIA		Ciências da Saúde	Medicina
Chong Ae KIM		Ciências da Saúde	Medicina
Dafne Dain Gandelman HOROVITZ		Ciências da Saúde	Medicina
Débora Gusmão MELO		Ciências da Saúde	Medicina
Decio BRUNONI		Ciências Biológicas	Genética
Ediclea Mascarenhas FERNANDES		Ciências Humanas	Educação
Marcelo Aguiar Costa LIMA		Ciências Biológicas	Genética
Marcos Antonio Ferreira Do NASCIMENTO		Ciências da Saúde	Saúde Coletiva
Roberto GIUGLIANI	Membro	Ciências Biológicas	Genética
Silvia Regina Sampaio FREITAS		Ciências Biológicas	Genética
Valdelúcia Alves Da COSTA		Ciências Humanas	Educação

Figura 1

Número de publicações por ano e por tipo

Todas as publicações do perfil

Figura 2

Categorias ASJC mais frequentes por ano

A cor dos pontos identifica a categoria predominante

Figura 3

Mapa de calor das categorias ASJC por ano

Frequências absolutas; cores mais escuras indicam mais publicações. Todas as categorias ASJC e anos disponíveis, sem aplicar os filtros da página.

Escala: 0 → 12

Mapa de calor das categorias ASJC por ano
Categoria ASJC	1980	1982	1983	1984	1985	1986	1987	1988	1989	1990	1991	1992	1993	1994	1995	1996	1997	1998	1999	2000	2001	2002	2003	2004	2005	2006	2007	2008	2009	2010	2011	2012	2013	2014	2015	2016	2017	2018	2019	2020	2021	2022	2023	2024	2025	2026
1311 · Genetics	0	1	3	0	1	0	0	1	1	2	8	8	4	1	4	9	9	11	8	5	5	10	4	3	2	3	1	2	3	0	0	1	0	5	1	1	1	2	3	0	2	2	1	2	1	0
2701 · Medicine (miscellaneous)	0	0	0	0	0	0	1	0	1	0	4	1	5	5	2	8	8	5	10	12	5	10	4	3	2	4	8	1	0	0	1	2	1	1	1	0	2	0	2	1	1	2	0	0	0	0
2716 · Genetics (clinical)	0	0	0	2	0	0	0	0	0	0	1	0	7	5	9	4	3	6	2	6	2	9	6	8	1	8	2	2	1	5	0	1	0	1	0	0	0	0	1	0	0	0	1	2	1	1
3304 · Education	0	0	0	1	0	0	1	0	0	0	1	0	0	1	0	1	5	7	0	5	1	7	3	2	0	1	0	0	0	1	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0
2808 · Neurology	0	0	0	0	2	0	0	1	2	1	2	0	2	0	3	3	0	1	3	4	1	1	1	1	0	0	0	0	0	0	0	1	0	0	0	0	2	1	1	0	0	0	0	0	0	0
2735 · Pediatrics; Perinatology and Child Health	0	1	0	0	0	0	0	0	2	2	1	0	0	1	0	0	2	0	0	0	2	1	1	1	0	1	1	0	1	0	1	0	3	0	1	0	1	0	1	0	1	1	0	0	2	1
3201 · Psychology (miscellaneous)	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	2	6	1	1	2	0	3	2	1	0	0	1	0	0	0	1	1	0	0	1	0	0	1	0	0	1	0	0	0	0	0
1301 · Biochemistry; Genetics and Molecular Biology (miscellaneous)	0	0	0	1	2	2	0	0	1	0	2	0	0	0	1	1	0	2	0	0	1	3	0	1	0	0	2	0	1	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0
2728 · Neurology (clinical)	0	0	0	0	0	0	0	0	1	1	0	0	1	0	0	2	1	2	0	3	1	0	0	1	0	0	1	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	0
2801 · Neuroscience (miscellaneous)	0	0	1	0	0	0	0	1	0	0	0	0	1	2	0	1	2	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0
2700 · General Medicine	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	2	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0
2738 · Psychiatry and Mental Health	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	2	1	2	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2739 · Public Health; Environmental and Occupational Health	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0
2712 · Endocrinology; Diabetes and Metabolism	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1
1103 · Animal Science and Zoology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	2	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1203 · Language and Linguistics	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1307 · Cell Biology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2713 · Epidemiology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1
2719 · Health Policy	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0
2736 · Pharmacology (medical)	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1300 · General Biochemistry; Genetics and Molecular Biology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1309 · Developmental Biology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1312 · Molecular Biology	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1701 · Computer Science (miscellaneous)	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2401 · Immunology and Microbiology (miscellaneous)	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0
2732 · Orthopedics and Sports Medicine	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0
3601 · Health Professions (miscellaneous)	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1106 · Food Science	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1201 · Arts and Humanities (miscellaneous)	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1210 · Music	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1302 · Aging	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1306 · Cancer Research	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1308 · Clinical Biochemistry	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2204 · Biomedical Engineering	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2710 · Embryology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1
2724 · Internal Medicine	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2734 · Pathology and Forensic Medicine	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2741 · Radiology; Nuclear Medicine and Imaging	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2742 · Rehabilitation	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0
2802 · Behavioral Neuroscience	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2805 · Cognitive Neuroscience	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
3101 · Physics and Astronomy (miscellaneous)	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
3200 · General Psychology	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
3204 · Developmental and Educational Psychology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
3300 · General Social Sciences	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
3306 · Health (social science)	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
3501 · Dentistry (miscellaneous)	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0
3616 · Speech and Hearing	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0

Ano	Tipo	Registro	Área temática e categoria ASJC
	Tipo de Publicação	Registro	Área temática e categoria ASJC
2026	Artigo em periódico	Pathways to Facilitate Early Recognition and Diagnosis of Hypochondroplasia Irving MELITA; Greco ELENA; Cocca ALESSANDRA; Dauber ANDREW; Jorge Alexander Augusto De LIMA et al ADVANCES IN THERAPY DOI 10.1007/s12325-026-03526-2 ISSN 0741-238X	HS Embryology
2026	Artigo em periódico	Clinical Utility of NGS-Based Diagnosis in Primary Ciliary Dyskinesia: Experience from a Brazilian Pediatric Cohort at a Reference Center for Rare Diseases Costa Patrícia F Barreto M; Fins Danielle De Freitas F M; De Oliveira Moraes ISABELLE; Folescu Tania WROBEL; Cohen Renata Wrobel FOLESCU et al Genes DOI 10.3390/genes17070767 ISSN 2073-4425	HS Pediatrics; Perinatology and Child Health
2026	Artigo em periódico	Real-world growth outcomes and safety of vosoritide in children with achondroplasia: a Brazilian single center 24 monhts experience Bordallo Ana Paula NEVES; Dominguez Alfonso José GREGORIO; Juan Clinton Llerena JUNIOR; Magalhaes Tatiana Sa Pacheco CARNEIRO; Henrique BOTTI et al Hormone Research in Paediatrics DOI 10.1159/000553585 ISSN 1663-2818	HS Endocrinology; Diabetes and Metabolism
2026	Artigo em periódico	Congenital Heart Disease Associated With Genetic Syndromes and Extracardiac Anomalies: A Six-Year Epidemiological Study in a Brazilian Referral Center Rodriguez Letícia CORDEIRO; Lerner NICOLE; Leite Maria De Fátima Monteiro PEREIRA; Farias Carla Verona BARRETO; Barmpas MICHAIL et al Birth Defects Research DOI 10.1002/bdr2.70111 ISSN 2472-1727	HS Epidemiology
2026	Artigo em periódico	Rare diseases in Brazil: a nationwide analysis of the diagnostic odyssey De Oliveira Bibiana MELLO; Broch Monique SARTORI; De Oliveira Carolina PEÇAIBES; Piovesana ANGÉLICA; Lorea Claudia FERNANDES et al JOURNAL OF COMMUNITY GENETICS DOI 10.1007/s12687-026-00939-y ISSN 1868-6001	HS Genetics (clinical)
2025	Capítulo de livro	Adolescências e doenças raras: a experiência de adolescentes com osteogênese imperfeita Antilia Januária MARTINS; Juan Clinton Llerena JUNIOR Adolescências e Olhares em Saúde: Desafios; Cuidados e Afetos ISBN 9788584045419	HS Pediatrics; Perinatology and Child Health
2025	Artigo em periódico	International consensus guidelines on the implementation and monitoring of vosoritide therapy in individuals with achondroplasia Savarirayan RAVI; Hoover Fong JULIE; Ozono KEIICHI; Backeljauw PHILIPPE; Cormier Daire VALÉRIE et al Nature Reviews Endocrinology DOI 10.1038/s41574-024-01074-9 ISSN 1759-5029	HS Endocrinology; Diabetes and Metabolism
2025	Artigo em periódico	Itinerários terapêuticos de pacientes com doenças raras Carvalho Maria Beatriz Andrade Fontoura DE; Juan Clinton Llerena JUNIOR Ciencia & Saude Coletiva DOI 10.1590/1413-81232025302.07652023 ISSN 1413-8123	HS Public Health; Environmental and Occupational Health
2025	Artigo em periódico	Autosomal recessive primary microcephaly in sibs in time of Zika epidemic: a Case Report Almeida Julia V; Abdala Bianca BARBOSA; Rabelo Natana CHAVES; Gomes Maria EDUARDA; Ferreira Bastos ELENICE et al Frontiers in Genetics DOI 10.3389/fgene.2025.1565296 ISSN 1664-8021	LS Genetics
2025	Artigo em periódico	Clinical and Molecular Characterization of Xia-Gibbs Syndrome: Expanding the Phenotypic Spectrum in a Brazilian Cohort Sennes Maísa Ganz SANCHEZ; Carvalho Laura Machado LARA; Castro Matheus Augusto ARAÚJO; Toccoli Giovana MANILLI; Farias Sofia De OLIVEIRA et al CLINICAL GENETICS DOI 10.1111/cge.14777 ISSN 0009-9163	HS Genetics (clinical)
2025	Artigo em periódico	Growth trajectories of children and adolescents with osteogenesis imperfecta in a reference center in Rio de janeiro; Brazil Pereira Luísa CUNHA; Farias Dayana RODRIGUES; De Bastiani FERNANDA; Juan Clinton Llerena JUNIOR; Rebelo FERNANDA BMC Pediatrics DOI 10.1186/s12887-025-05838-8 ISSN 1471-2431	HS Pediatrics; Perinatology and Child Health
2025	Artigo em periódico	Management of achondroplasia in Latin America: patient and physician perspectives Juan Clinton Llerena JUNIOR; Baratela WAGNER; Cortés Monsalve FANNY; Del Pino MARIANA; Fano VIRGINIA et al Future Rare Diseases DOI 10.1080/23995270.2025.2564056 ISSN 2399-5270	HS Health Policy
2025	Artigo em periódico	Contributing Factors for Angle's Class III Phenotype in Crouzon Syndrome M PROTZENKO; C A Viana De ARAÚJO; S M De Carvalho GONZALEZ; F Rolemberg RIBA; T PROTZENKO et al EUROPEAN JOURNAL OF PAEDIATRIC DENTISTRY DOI 10.23804/ejpd.2025 ISSN 2035-648X	HS Dentistry (miscellaneous)
2024	Artigo em periódico	Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients Gomes Maria EDUARDA; Kehdy FERNANDA; De Neves Manta Fernanda SALOUM; Dafne Dain Gandelman HOROVITZ; Sanseverino Maria TERESA et al Scientific Reports DOI 10.1038/s41598-024-64407-8 ISSN 2045-2322	HS Genetics (clinical)
2024	Artigo em periódico	Mesomelia-synostoses syndrome: contiguous deletion syndrome; SULF1 haploinsufficiency or enhancer adoption? Bendas Feres Lima INGRID; Fátima Marques De Moraes Lúcia DE; Roberto Da Fonseca CARLOS; Juan Clinton Llerena JUNIOR; Mehrjouy MANA et al Molecular Cytogenetics DOI 10.1186/s13039-024-00684-2 ISSN 1755-8166	LS Genetics
2024	Artigo em periódico	Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network Bibiana Mello De OLIVEIRA; Filipe Andrade BERNARDI; João Francisco BAIOCHI; Mariane Barros NEIVA; Milena ARTIFON et al Orphanet ISSN 1172-1150	HS Epidemiology
2024	Artigo em periódico	Rare maternal structural mosaicism as a familial cause of 18p deletion syndrome: cytogenetic mechanisms and phenotypic variability Ana Clara Fandinho MONTES; Ingrid Bendas Feres LIMA; Thais Siqueira FERNANDES; Carlos Roberto Da FONSECA; Patrícia Santana CORREIA et al International Journal of Genetics and Genomics DOI 10.11648/j.ijgg.20241204.12 ISSN 2376-7340	LS Genetics
2024	Artigo em periódico	Clinical and Cytogenetic Impact of Maternal Balanced Double Translocation: A Familial Case of 15q11.2 Microduplication and Microdeletion Syndromes with Genetic Counselling Implications Vieira Daniela Koeller R; Lima Ingrid Bendas FERES; Rosenberg CARLA; Fonseca Carlos Roberto DA; Leonardo Henrique Ferreira GOMES et al Genes DOI 10.3390/genes15121546 ISSN 2073-4425	HS Genetics (clinical)
2023	Artigo em periódico	Genetic analysis of osteogenesis imperfecta in a large Brazilian cohort Annanda Pink HOLTZ; Liliane Todeschini De SOUZA; Erlane RIBEIRO; Angelina COSTA; Renata Maria Rabello Da Silva LAGO et al BONE ISSN 8756-3282	LS Genetics
2023	Artigo em periódico	Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry Kishnani Priya S; Kronn DAVID; Suwazono SHUGO; Broomfield ALEXANDER; Juan Clinton Llerena JUNIOR et al Orphanet Journal of Rare Diseases DOI 10.1186/s13023-023-02981-2 ISSN 1750-1172	HS General Medicine
2023	Artigo em periódico	Lifetime Impact Study for Achondroplasia (LISA): Findings from an observational and multinational study focused on health-related quality of life in individuals with achondroplasia in Latin America Juan Clinton Llerena JUNIOR; Rosselli PABLO; Aragão AMANDA; Valenzuela CRISTINA; Bertola DEBORA et al Genetics in Medicine Open DOI 10.1016/j.gimo.2023.100843 ISSN 2949-7744	HS Genetics (clinical)
2022	Artigo em periódico	Impact of achondroplasia on Latin American patients: a systematic review and meta-analysis of observational studies Fano VIRGINIA; Kim Chong A; Rosselli PABLO; Dib Regina EL; Shediac RENÉE et al Orphanet Journal of Rare Diseases DOI 10.1186/s13023-021-02142-3 ISSN 1750-1172	HS Neurology (clinical)
2022	Artigo em periódico	Síndrome de Cornelia de Lange: análise de uma série de 33 pacientes em um centro de referência Larangeira Gustavo Henrique TORRACA; Souza Laila Maria Silveira Gallo DE; Almeida Julia Valeriano DE; Moraes Yuri Costa De ARAUJO; Correia Patricia SANTANA et al CLINICAL AND BIOMEDICAL RESEARCH DOI 10.22491/2357-9730.117215 ISSN 2357-9730	HS Medicine (miscellaneous)
2022	Artigo em periódico	Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients Juan Clinton Llerena JUNIOR; Kim Chong AE; Fano VIRGINIA; Rosselli PABLO; Collett Solberg Paulo FERREZ et al BMC Pediatrics DOI 10.1186/s12887-022-03505-w ISSN 1471-2431	HS Pediatrics; Perinatology and Child Health
2022	Artigo em periódico	Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants Leila Cabral De Almeida CARDOSO; Parra ALEJANDRO; Gil Cristina RÍOS; Arias PEDRO; Gallego NATALIA et al Cancers DOI 10.3390/cancers14153807 ISSN 2072-6694	LS Genetics

2026 Artigo em periódico

HS Embryology

Pathways to Facilitate Early Recognition and Diagnosis of Hypochondroplasia

ADVANCES IN THERAPY

Irving MELITA; Greco ELENA; Cocca ALESSANDRA; Dauber ANDREW; Jorge Alexander Augusto De LIMA et al

DOI ISSN 0741-238X

2026 Artigo em periódico

HS Pediatrics; Perinatology and Child Health

Clinical Utility of NGS-Based Diagnosis in Primary Ciliary Dyskinesia: Experience from a Brazilian Pediatric Cohort at a Reference Center for Rare Diseases

Genes

Costa Patrícia F Barreto M; Fins Danielle De Freitas F M; De Oliveira Moraes ISABELLE; Folescu Tania WROBEL; Cohen Renata Wrobel FOLESCU et al

DOI ISSN 2073-4425

2026 Artigo em periódico

HS Endocrinology; Diabetes and Metabolism

Real-world growth outcomes and safety of vosoritide in children with achondroplasia: a Brazilian single center 24 monhts experience

Hormone Research in Paediatrics

Bordallo Ana Paula NEVES; Dominguez Alfonso José GREGORIO; Juan Clinton Llerena JUNIOR; Magalhaes Tatiana Sa Pacheco CARNEIRO; Henrique BOTTI et al

DOI ISSN 1663-2818

2026 Artigo em periódico

HS Epidemiology

Congenital Heart Disease Associated With Genetic Syndromes and Extracardiac Anomalies: A Six-Year Epidemiological Study in a Brazilian Referral Center

Birth Defects Research

Rodriguez Letícia CORDEIRO; Lerner NICOLE; Leite Maria De Fátima Monteiro PEREIRA; Farias Carla Verona BARRETO; Barmpas MICHAIL et al

DOI ISSN 2472-1727

2026 Artigo em periódico

HS Genetics (clinical)

Rare diseases in Brazil: a nationwide analysis of the diagnostic odyssey

JOURNAL OF COMMUNITY GENETICS

De Oliveira Bibiana MELLO; Broch Monique SARTORI; De Oliveira Carolina PEÇAIBES; Piovesana ANGÉLICA; Lorea Claudia FERNANDES et al

DOI ISSN 1868-6001

2025 Capítulo de livro

HS Pediatrics; Perinatology and Child Health

Adolescências e doenças raras: a experiência de adolescentes com osteogênese imperfeita

Adolescências e Olhares em Saúde: Desafios; Cuidados e Afetos

Antilia Januária MARTINS; Juan Clinton Llerena JUNIOR

ISBN 9788584045419

2025 Artigo em periódico

HS Endocrinology; Diabetes and Metabolism

International consensus guidelines on the implementation and monitoring of vosoritide therapy in individuals with achondroplasia

Nature Reviews Endocrinology

Savarirayan RAVI; Hoover Fong JULIE; Ozono KEIICHI; Backeljauw PHILIPPE; Cormier Daire VALÉRIE et al

DOI ISSN 1759-5029

2025 Artigo em periódico

HS Public Health; Environmental and Occupational Health

Itinerários terapêuticos de pacientes com doenças raras

Ciencia & Saude Coletiva

Carvalho Maria Beatriz Andrade Fontoura DE; Juan Clinton Llerena JUNIOR

DOI ISSN 1413-8123

2025 Artigo em periódico

LS Genetics

Autosomal recessive primary microcephaly in sibs in time of Zika epidemic: a Case Report

Frontiers in Genetics

Almeida Julia V; Abdala Bianca BARBOSA; Rabelo Natana CHAVES; Gomes Maria EDUARDA; Ferreira Bastos ELENICE et al

DOI ISSN 1664-8021

2025 Artigo em periódico

HS Genetics (clinical)

Clinical and Molecular Characterization of Xia-Gibbs Syndrome: Expanding the Phenotypic Spectrum in a Brazilian Cohort

CLINICAL GENETICS

Sennes Maísa Ganz SANCHEZ; Carvalho Laura Machado LARA; Castro Matheus Augusto ARAÚJO; Toccoli Giovana MANILLI; Farias Sofia De OLIVEIRA et al

DOI ISSN 0009-9163

2025 Artigo em periódico

HS Pediatrics; Perinatology and Child Health

Growth trajectories of children and adolescents with osteogenesis imperfecta in a reference center in Rio de janeiro; Brazil

BMC Pediatrics

Pereira Luísa CUNHA; Farias Dayana RODRIGUES; De Bastiani FERNANDA; Juan Clinton Llerena JUNIOR; Rebelo FERNANDA

DOI ISSN 1471-2431

2025 Artigo em periódico

HS Health Policy

Management of achondroplasia in Latin America: patient and physician perspectives

Future Rare Diseases

Juan Clinton Llerena JUNIOR; Baratela WAGNER; Cortés Monsalve FANNY; Del Pino MARIANA; Fano VIRGINIA et al

DOI ISSN 2399-5270

2025 Artigo em periódico

HS Dentistry (miscellaneous)

Contributing Factors for Angle's Class III Phenotype in Crouzon Syndrome

EUROPEAN JOURNAL OF PAEDIATRIC DENTISTRY

M PROTZENKO; C A Viana De ARAÚJO; S M De Carvalho GONZALEZ; F Rolemberg RIBA; T PROTZENKO et al

DOI ISSN 2035-648X

2024 Artigo em periódico

HS Genetics (clinical)

Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients

Scientific Reports

Gomes Maria EDUARDA; Kehdy FERNANDA; De Neves Manta Fernanda SALOUM; Dafne Dain Gandelman HOROVITZ; Sanseverino Maria TERESA et al

DOI ISSN 2045-2322

2024 Artigo em periódico

LS Genetics

Mesomelia-synostoses syndrome: contiguous deletion syndrome; SULF1 haploinsufficiency or enhancer adoption?

Molecular Cytogenetics

Bendas Feres Lima INGRID; Fátima Marques De Moraes Lúcia DE; Roberto Da Fonseca CARLOS; Juan Clinton Llerena JUNIOR; Mehrjouy MANA et al

DOI ISSN 1755-8166

2024 Artigo em periódico

HS Epidemiology

Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network

Orphanet

Bibiana Mello De OLIVEIRA; Filipe Andrade BERNARDI; João Francisco BAIOCHI; Mariane Barros NEIVA; Milena ARTIFON et al

ISSN 1172-1150

2024 Artigo em periódico

LS Genetics

Rare maternal structural mosaicism as a familial cause of 18p deletion syndrome: cytogenetic mechanisms and phenotypic variability

International Journal of Genetics and Genomics

Ana Clara Fandinho MONTES; Ingrid Bendas Feres LIMA; Thais Siqueira FERNANDES; Carlos Roberto Da FONSECA; Patrícia Santana CORREIA et al

DOI ISSN 2376-7340

2024 Artigo em periódico

HS Genetics (clinical)

Clinical and Cytogenetic Impact of Maternal Balanced Double Translocation: A Familial Case of 15q11.2 Microduplication and Microdeletion Syndromes with Genetic Counselling Implications

Genes

Vieira Daniela Koeller R; Lima Ingrid Bendas FERES; Rosenberg CARLA; Fonseca Carlos Roberto DA; Leonardo Henrique Ferreira GOMES et al

DOI ISSN 2073-4425

2023 Artigo em periódico

LS Genetics

Genetic analysis of osteogenesis imperfecta in a large Brazilian cohort

BONE

Annanda Pink HOLTZ; Liliane Todeschini De SOUZA; Erlane RIBEIRO; Angelina COSTA; Renata Maria Rabello Da Silva LAGO et al

ISSN 8756-3282

2023 Artigo em periódico

HS General Medicine

Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry

Orphanet Journal of Rare Diseases

Kishnani Priya S; Kronn DAVID; Suwazono SHUGO; Broomfield ALEXANDER; Juan Clinton Llerena JUNIOR et al

DOI ISSN 1750-1172

2023 Artigo em periódico

HS Genetics (clinical)

Lifetime Impact Study for Achondroplasia (LISA): Findings from an observational and multinational study focused on health-related quality of life in individuals with achondroplasia in Latin America

Genetics in Medicine Open

Juan Clinton Llerena JUNIOR; Rosselli PABLO; Aragão AMANDA; Valenzuela CRISTINA; Bertola DEBORA et al

DOI ISSN 2949-7744

2022 Artigo em periódico

HS Neurology (clinical)

Impact of achondroplasia on Latin American patients: a systematic review and meta-analysis of observational studies

Orphanet Journal of Rare Diseases

Fano VIRGINIA; Kim Chong A; Rosselli PABLO; Dib Regina EL; Shediac RENÉE et al

DOI ISSN 1750-1172

2022 Artigo em periódico

HS Medicine (miscellaneous)

Síndrome de Cornelia de Lange: análise de uma série de 33 pacientes em um centro de referência

CLINICAL AND BIOMEDICAL RESEARCH

Larangeira Gustavo Henrique TORRACA; Souza Laila Maria Silveira Gallo DE; Almeida Julia Valeriano DE; Moraes Yuri Costa De ARAUJO; Correia Patricia SANTANA et al

DOI ISSN 2357-9730

2022 Artigo em periódico

HS Pediatrics; Perinatology and Child Health

Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients

BMC Pediatrics

Juan Clinton Llerena JUNIOR; Kim Chong AE; Fano VIRGINIA; Rosselli PABLO; Collett Solberg Paulo FERREZ et al

DOI ISSN 1471-2431

2022 Artigo em periódico

LS Genetics

Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants

Cancers

Leila Cabral De Almeida CARDOSO; Parra ALEJANDRO; Gil Cristina RÍOS; Arias PEDRO; Gallego NATALIA et al

DOI ISSN 2072-6694