Chong Ae Kim

Dados pessoais

Lattes
Grupos de Pesquisa
Genealogia Acadêmica

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

Publicações

Total: 988

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
Carla Gentile MATAS		Ciências da Saúde	Fonoaudiologia
Carlos Augusto Galvão BARBOZA		Ciências Biológicas	Morfologia
Celia Priszkulnik KOIFFMANN		Ciências Biológicas	Genética
Claudia Berlim De MELLO		Ciências Humanas	Psicologia
Dafne Dain Gandelman HOROVITZ		Ciências da Saúde	Medicina
Débora Gusmão MELO		Ciências da Saúde	Medicina
Débora Maria Befi LOPES	Membro	Ciências da Saúde	Fonoaudiologia
Decio BRUNONI		Ciências Biológicas	Genética
Erasmo Barbante CASELLA		Ciências da Saúde	Medicina
Fernanda Tebexreni ORSATI		Ciências Humanas	Psicologia
Juan Clinton Llerena JUNIOR		Ciências da Saúde	Medicina
Luiz Renato Rodrigues CARREIRO		Ciências Humanas	Psicologia
Márcia Helena Da Silva MELO		Ciências Humanas	Psicologia
Milena Coelho Fernandes CALDATO		Ciências da Saúde	Medicina
Paulo Ricardo Gazzola ZEN		Ciências da Saúde	Medicina
Paulo Sérgio BOGGIO	Membro	Ciências Biológicas	Fisiologia
Roberto GIUGLIANI	Membro	Ciências Biológicas	Genética
Vânia D ALMEIDA	Membro	Ciências Biológicas	Bioquímica

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 → 17

Mapa de calor das categorias ASJC por ano
Categoria ASJC	1980	1983	1984	1985	1986	1987	1988	1989	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	0	1	2	0	0	0	6	1	1	4	2	9	2	4	17	6	4	4	2	6	13	11	8	7	5	6	12	8	11	10	7	11	10	3	5	2	4	8	1	1	7	1
2716 · Genetics (clinical)	1	0	0	0	0	0	1	2	2	0	0	1	1	7	5	3	11	10	9	11	9	15	12	2	3	3	6	11	0	8	3	5	5	7	8	3	7	4	5	8	10	10	4	2
2701 · Medicine (miscellaneous)	2	1	1	0	1	1	0	2	2	5	5	6	0	1	4	5	4	6	7	7	7	2	0	4	10	5	5	7	1	5	6	3	2	5	6	4	6	0	2	5	0	0	0	0
2735 · Pediatrics; Perinatology and Child Health	1	0	1	2	0	0	0	2	0	2	3	6	3	2	1	3	2	2	2	5	1	2	2	0	3	1	1	2	0	1	1	1	2	1	2	1	0	0	1	2	3	1	0	1
3201 · Psychology (miscellaneous)	0	1	0	0	0	0	0	0	1	3	3	5	4	2	5	1	1	0	0	2	1	1	1	0	0	1	1	2	1	1	2	1	0	0	0	2	2	0	0	4	0	0	0	0
2728 · Neurology (clinical)	1	0	0	0	1	1	0	0	0	0	1	2	3	1	1	0	1	2	0	3	2	1	3	3	0	1	1	0	0	3	1	1	1	3	2	0	3	1	1	1	2	0	0	0
2808 · Neurology	0	0	0	0	0	0	0	1	1	0	0	1	2	1	2	1	2	5	5	1	0	2	0	1	1	0	4	1	2	3	0	0	0	0	2	4	0	0	2	0	0	0	0	0
2801 · Neuroscience (miscellaneous)	0	0	0	0	0	1	0	0	0	0	2	0	0	1	1	1	0	1	3	0	0	1	0	1	1	1	1	0	1	0	5	1	0	3	2	1	0	1	0	0	0	0	0	0
1301 · Biochemistry; Genetics and Molecular Biology (miscellaneous)	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	1	0	0	1	0	0	0	0	1	0	2	0	2	2	1	1	0	0	0	3	0	1	0	0	1	0	0	0
1312 · Molecular Biology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	1	0	1	1	0	0	0	1	1	0	0	0	0	0	1	0	1	0	0	1
2710 · Embryology	0	0	0	0	0	0	0	1	0	0	1	0	0	1	0	1	2	1	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2712 · Endocrinology; Diabetes and Metabolism	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	1	0	2	0	0	0	0	0	0	0	0	0	1	0	0	3	1	0	0
2741 · Radiology; Nuclear Medicine and Imaging	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	4	0	0	1	1	0	0	0	0	0	0	0	0	1	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	1	0	0	0	0	0	0	0	2	0	0	0	0	0	0	0	0	2	1	0	0	0	1	1	0
2705 · Cardiology and Cardiovascular Medicine	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	2	0	1	0	0	0	0	0	1	1	0	0	0	0
2738 · Psychiatry and Mental Health	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	2	1	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0
3304 · Education	0	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0
2725 · Infectious Diseases	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	1	0	0	0	0	0	2	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0
1308 · Clinical Biochemistry	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0
2700 · General Medicine	0	0	0	0	0	0	0	0	1	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	1	0	0	0	0	0	0	1	0	0
2734 · Pathology and Forensic Medicine	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	2	0	0	0	2	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0
1203 · Language and Linguistics	1	0	0	0	0	0	0	0	0	0	1	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	1	0	0	0	0	0
3616 · Speech and Hearing	0	0	0	0	0	0	0	0	1	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	1	0	0	0	0	0	0	0	0
1103 · Animal Science and Zoology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	2	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
1702 · Artificial Intelligence	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	1	0	0	0	0	0	0	0	1	0	0	0	0	0
2723 · Immunology and Allergy	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	1	0	1	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	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
2708 · Dermatology	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	1	0	0
2713 · Epidemiology	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	1	0	0
2715 · Gastroenterology	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	2	0
2724 · Internal Medicine	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2731 · Ophthalmology	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	1	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	1	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2736 · Pharmacology (medical)	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
3310 · Linguistics and Language	0	0	0	0	0	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	0	0	0
1300 · General Biochemistry; Genetics and Molecular Biology	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
1302 · Aging	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	0	0
1303 · Biochemistry	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	0
1310 · Endocrinology	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
1313 · Molecular 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	0	0	0	0	0	0	0	1	0	0	0	0	0
1314 · Physiology	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
1402 · Accounting	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	0	0
2301 · Environmental Science (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
2401 · Immunology and Microbiology (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	1	0	0	0	0	0	0	0	0	0	0	0	0
2405 · Parasitology	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
2702 · Anatomy	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	0	0	0	0	0	0
2704 · Biochemistry (medical)	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	0	0	0
2720 · Hematology	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
2722 · Histology	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	0	0
2727 · Nephrology	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
2730 · Oncology	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
2733 · Otorhinolaryngology	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	0
2739 · Public Health; Environmental and Occupational Health	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
2746 · Surgery	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
2803 · Biological Psychiatry	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
2806 · Developmental Neuroscience	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
2809 · Sensory Systems	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	0	0
2919 · Pediatrics	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	0	0	0	0	0	0
3001 · Pharmacology; Toxicology and Pharmaceutics (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	1	0	0	0	0	0	0	0	0
3203 · Clinical Psychology	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	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	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
3206 · Neuropsychology and Physiological Psychology	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	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0
3607 · Medical Laboratory Technology	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

Ano	Tipo	Registro	Área temática e categoria ASJC
	Tipo de Publicação	Registro	Área temática e categoria ASJC
2026	Artigo em periódico	Unveiling Mucopolysaccharidosis IIIC in Brazil: Diagnostic Journey and Clinical Features of Brazilian Patients Identified Through the MPS Brazil Network Montenegro Yorran Hardman ARAÚJO; Alves Maria Fernanda ANTERO; Santos Lopes Simone Silva DOS; Souza Carolina Fischinger Moura DE; Poswar Fabiano De OLIVEIRA et al Diseases DOI 10.3390/diseases14010005 ISSN 2079-9721	HS Genetics (clinical)
2026	Artigo em periódico	Adaptive and Behavioral Phenotype in Pediatric 22q11.2 Deletion Syndrome: Characterizing a High-Risk Neurogenetic Copy Number Variant Pimenta Larissa Salustiano EVANGELISTA; Mello Claudia Berlim DE; Polanczyk Guilherme V; Kulikowski Leslie DOMENICI; Melaragno Maria ISABEL et al Genes DOI 10.3390/genes17020120 ISSN 2073-4425	LS Genetics
2026	Artigo em periódico	Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discovery Fu LI; Chong Ae KIM; Tokita MASATOSHI; Miyata YOHANE; Okamoto NOBUHIKO et al npj Genomic Medicine DOI 10.1038/s41525-026-00561-4 ISSN 2056-7944	LS Molecular Biology
2026	Artigo em periódico	Assessment of diagnostic yield and clinical utility of genome sequencing in critically ill infants Moreno Carolina A; De França MARINA; Prota Joana R M; Migliavacca Michele P; Teixeira Anne C B et al PEDIATRIC RESEARCH DOI 10.1038/s41390-026-04861-4 ISSN 0031-3998	HS Pediatrics; Perinatology and Child Health
2026	Artigo em periódico	Oncogenetics training in Brazilian medical genetics residency programs: current landscape and challenges De Queiroz Júnior Amaro FREIRE; Acosta Angelina XAVIER; Steiner Carlos EDUARDO; De Souza Cezar Antônio ABREU; Chong Ae KIM et al JOURNAL OF COMMUNITY GENETICS DOI 10.1007/s12687-026-00916-5 ISSN 1868-6001	HS Genetics (clinical)
2025	Artigo em periódico	Twenty Years Follow-up of Acrocallosal Patients Revealing New Clinical Features Elisa França CHAVES; Manuela Gravina NAUFAL; Caroline PIAI; Rachel Sayuri HONJO; Debora BERTOLA et al Japanese Journal of Gastroenterology and Hepatology ISSN 2435-1210	HS Gastroenterology
2025	Artigo em periódico	Gastrointestinal Manifestation in Brazilian Cornelia de Lange Patients Isabel Furquim PINHEIRO; Beatriz Carvalho NUNES; Hiromi AOI; Rie SEYAMA; Naomichi MATSUMOTO et al Japanese Journal of Gastroenterology and Hepatology ISSN 2435-1210	HS Gastroenterology
2025	Artigo em periódico	Cytogenomic characterization of karyotypes with additional autosomal material Rodrigues Priscila SOARES; Burssed BRUNA; Bellucco FERNANDA; Rosolen Débora Cristina BATISTA; Chong Ae KIM et al Scientific Reports DOI 10.1038/s41598-025-97077-1 ISSN 2045-2322	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	Blended Phenotypes in Individuals With Rare Diseases: A Brazilian Case Series Piai Caroline BRANDÃO; Salti Gabriela Yumi GOTO; Allegro Marcella CARDOSO; Betty Priscila BARBOSA; De Souza Valente FERNANDA et al AMERICAN JOURNAL OF MEDICAL GENETICS PART A DOI 10.1002/ajmg.a.64209 ISSN 1552-4825	LS Genetics
2025	Artigo em periódico	Full blood chimerism and de novo crossover at HLA in a phenotypically normal 46;XY woman Quaio Caio Robledo D Angioli COSTA; Torres Margareth AFONSO; Centurião Newton De FREITAS; Muto Nair HIDEKO; Maciel Gustavo Arantes ROSA et al GENE REPORTS DOI 10.1016/j.genrep.2025.102282 ISSN 2452-0144	LS Genetics
2025	Artigo em periódico	Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay Hamanaka KOHEI; Fujita ATSUSHI; Miyatake SATOKO; Misawa KAZUHARU; Koshimizu ERIKO et al npj Genomic Medicine DOI 10.1038/s41525-025-00521-4 ISSN 2056-7944	HS Genetics (clinical)
2025	Artigo em periódico	A Novel NOTCH3 Variant Leading to Lateral Meningocele Syndrome: Prenatal Diagnosis and Possible Expansion of the Phenotype Pasa Isabela DORNELES; Frey Alessandra CAREN; Ferraciolli Suelly FAZIO; Lucato Leandro TAVARES; Azevedo Carvalho MARIANA et al MOLECULAR SYNDROMOLOGY DOI 10.1159/000542432 ISSN 1661-8769	LS Developmental Biology
2025	Artigo em periódico	Split Hand-Foot Malformations-Unveiling Unique Molecular Diagnosis From a Brazilian Cohort Cás Eduardo DA; Ceroni José Ricardo MAGLIOCCO; Yamamoto Guilherme LOPES; Castro Matheus Augusto ARAÚJO; Bisneto Edgard FRANÇA et al CLINICAL GENETICS DOI 10.1111/cge.14666 ISSN 0009-9163	HS Genetics (clinical)
2025	Artigo em periódico	Clinical Utility of Multitissue Genomic Arrays in Diagnosing Pigmentary Mosaicism Associated with Neurodevelopmental Delay Oliveira Yanca GASPARINI; Montenegro Marilia MOREIRA; Almeida Vanessa TAVARES; Moura Eder ALENCAR; Nascimento Amom MENDES et al JOURNAL OF MOLECULAR DIAGNOSTICS DOI 10.1016/j.jmoldx.2025.09.002 ISSN 1525-1578	HS Genetics (clinical)
2025	Artigo em periódico	Ophthalmological findings in Brazilian Cornelia de Lange syndrome patients with NIPBL variants Vilella THAINÁ; Nunes Beatriz CARVALHO; Del Valle Giulia STEUERNAGEL; Pinheiro Isabel FURQUIM; Aoi HIROMI et al BMC Ophthalmology DOI 10.1186/s12886-025-04401-4 ISSN 1471-2415	HS Ophthalmology
2025	Artigo em periódico	Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function Asadollahi REZA; Ahmad AISHA; Boonsawat PARANCHAI; Shahanoor Hinzen JASMINE; Lohse MAREIKE et al NATURE GENETICS DOI 10.1038/s41588-025-02361-5 ISSN 1061-4036	LS Genetics
2025	Artigo em periódico	Correction: Novel compound heterozygous ABCA2 variants cause IDPOGSA; a variable phenotypic syndrome with intellectual disability Inoue YUTA; Tsuchida NAOMI; Chong Ae KIM; De Oliveira Stephan BRUNO; Castro Matheus Augusto ARAUJO et al JOURNAL OF HUMAN GENETICS DOI 10.1038/s10038-025-01422-1 ISSN 1434-5161	LS Genetics
2025	Artigo em periódico	Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability Kröll Hermi ARIANE; Stoetzel CORINNE; Etard CHRISTELLE; Halabelian LEVON; Schaefer ELISE et al AMERICAN JOURNAL OF HUMAN GENETICS DOI 10.1016/j.ajhg.2025.10.014 ISSN 0002-9297	LS Genetics
2025	Artigo em periódico	Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders Hayashi YUKINA; Kajiwara KENTA; Mizuno SEIJI; Okamoto NOBUHIKO; Chan Mei YAN et al JOURNAL OF HUMAN GENETICS DOI 10.1038/s10038-025-01442-x ISSN 1434-5161	LS Genetics
2024	Trabalho em evento	Case Series of Mucopolysaccharidosis Type VII: A report from tertiary center in São Paulo Lais SANDOVAL; Erika Priscila MACHADO; Isabela Dorneles PASA; Dernival Dantas Dias JR; Gabriela Yumi Goto SALTI et al 35o Congresso Brasileiro de Genética Médica	HS Genetics (clinical)
2024	Trabalho em evento	Trends in hospital admissions after implementation of expanded newborn screening in the city of São Paulo Dernival Dantas Dias JR; Erika Priscila MACHADO; Lais Sandoval LOUREIRO; Gabriela Yumi Goto SALTI; Guilherme L YAMAMOTO et al 35o Congresso Brasileiro de Genética Médica	HS Genetics (clinical)
2024	Trabalho em evento	Rasopathies-like phenotypes: Novel Differential Diagnosis in Patients with Overlapping Clinical Featuresi Lucas PIRES; José Ricardo CERONI; Guilherme L YAMAMOTO; Honjo Rachel SAYURI; João Bosco OLIVEIRA et al 35o Congresso Brasileiro de Genética Médica	HS Genetics (clinical)
2024	Trabalho em evento	Inborn Errors of Immunity : The IFNAR1 and IFNAR2 genesandtheir action in the viral immune response; two case report Priscila B BETTY; M ALLEGRO; C B PIAI; F D S VALENTE; I D PASA et al 35o Congresso Brasileiro de Genética Médica	HS Genetics (clinical)
2024	Trabalho em evento	Blended Phenotypes in Individuals with Rare Diseases: A Brazilian Case SeriesX Caroline Brandão PIAI; Gabriela Yumi Goto SALTI; Marcella Cardoso ALLEGRO; Priscila Barbosa BETTY; Isabela Dorneles PASA et al 35o Congresso Brasileiro de Genética Médica	HS Genetics (clinical)

2026 Artigo em periódico

HS Genetics (clinical)

Unveiling Mucopolysaccharidosis IIIC in Brazil: Diagnostic Journey and Clinical Features of Brazilian Patients Identified Through the MPS Brazil Network

Diseases

Montenegro Yorran Hardman ARAÚJO; Alves Maria Fernanda ANTERO; Santos Lopes Simone Silva DOS; Souza Carolina Fischinger Moura DE; Poswar Fabiano De OLIVEIRA et al

DOI ISSN 2079-9721

2026 Artigo em periódico

LS Genetics

Adaptive and Behavioral Phenotype in Pediatric 22q11.2 Deletion Syndrome: Characterizing a High-Risk Neurogenetic Copy Number Variant

Genes

Pimenta Larissa Salustiano EVANGELISTA; Mello Claudia Berlim DE; Polanczyk Guilherme V; Kulikowski Leslie DOMENICI; Melaragno Maria ISABEL et al

DOI ISSN 2073-4425

2026 Artigo em periódico

LS Molecular Biology

Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discovery

npj Genomic Medicine

Fu LI; Chong Ae KIM; Tokita MASATOSHI; Miyata YOHANE; Okamoto NOBUHIKO et al

DOI ISSN 2056-7944

2026 Artigo em periódico

HS Pediatrics; Perinatology and Child Health

Assessment of diagnostic yield and clinical utility of genome sequencing in critically ill infants

PEDIATRIC RESEARCH

Moreno Carolina A; De França MARINA; Prota Joana R M; Migliavacca Michele P; Teixeira Anne C B et al

DOI ISSN 0031-3998

2026 Artigo em periódico

HS Genetics (clinical)

Oncogenetics training in Brazilian medical genetics residency programs: current landscape and challenges

JOURNAL OF COMMUNITY GENETICS

De Queiroz Júnior Amaro FREIRE; Acosta Angelina XAVIER; Steiner Carlos EDUARDO; De Souza Cezar Antônio ABREU; Chong Ae KIM et al

DOI ISSN 1868-6001

2025 Artigo em periódico

HS Gastroenterology

Twenty Years Follow-up of Acrocallosal Patients Revealing New Clinical Features

Japanese Journal of Gastroenterology and Hepatology

Elisa França CHAVES; Manuela Gravina NAUFAL; Caroline PIAI; Rachel Sayuri HONJO; Debora BERTOLA et al

ISSN 2435-1210

2025 Artigo em periódico

HS Gastroenterology

Gastrointestinal Manifestation in Brazilian Cornelia de Lange Patients

Japanese Journal of Gastroenterology and Hepatology

Isabel Furquim PINHEIRO; Beatriz Carvalho NUNES; Hiromi AOI; Rie SEYAMA; Naomichi MATSUMOTO et al

ISSN 2435-1210

2025 Artigo em periódico

LS Genetics

Cytogenomic characterization of karyotypes with additional autosomal material

Scientific Reports

Rodrigues Priscila SOARES; Burssed BRUNA; Bellucco FERNANDA; Rosolen Débora Cristina BATISTA; Chong Ae KIM et al

DOI ISSN 2045-2322

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

LS Genetics

Blended Phenotypes in Individuals With Rare Diseases: A Brazilian Case Series

AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Piai Caroline BRANDÃO; Salti Gabriela Yumi GOTO; Allegro Marcella CARDOSO; Betty Priscila BARBOSA; De Souza Valente FERNANDA et al

DOI ISSN 1552-4825

2025 Artigo em periódico

LS Genetics

Full blood chimerism and de novo crossover at HLA in a phenotypically normal 46;XY woman

GENE REPORTS

Quaio Caio Robledo D Angioli COSTA; Torres Margareth AFONSO; Centurião Newton De FREITAS; Muto Nair HIDEKO; Maciel Gustavo Arantes ROSA et al

DOI ISSN 2452-0144

2025 Artigo em periódico

HS Genetics (clinical)

Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay

npj Genomic Medicine

Hamanaka KOHEI; Fujita ATSUSHI; Miyatake SATOKO; Misawa KAZUHARU; Koshimizu ERIKO et al

DOI ISSN 2056-7944

2025 Artigo em periódico

LS Developmental Biology

A Novel NOTCH3 Variant Leading to Lateral Meningocele Syndrome: Prenatal Diagnosis and Possible Expansion of the Phenotype

MOLECULAR SYNDROMOLOGY

Pasa Isabela DORNELES; Frey Alessandra CAREN; Ferraciolli Suelly FAZIO; Lucato Leandro TAVARES; Azevedo Carvalho MARIANA et al

DOI ISSN 1661-8769

2025 Artigo em periódico

HS Genetics (clinical)

Split Hand-Foot Malformations-Unveiling Unique Molecular Diagnosis From a Brazilian Cohort

CLINICAL GENETICS

Cás Eduardo DA; Ceroni José Ricardo MAGLIOCCO; Yamamoto Guilherme LOPES; Castro Matheus Augusto ARAÚJO; Bisneto Edgard FRANÇA et al

DOI ISSN 0009-9163

2025 Artigo em periódico

HS Genetics (clinical)

Clinical Utility of Multitissue Genomic Arrays in Diagnosing Pigmentary Mosaicism Associated with Neurodevelopmental Delay

JOURNAL OF MOLECULAR DIAGNOSTICS

Oliveira Yanca GASPARINI; Montenegro Marilia MOREIRA; Almeida Vanessa TAVARES; Moura Eder ALENCAR; Nascimento Amom MENDES et al

DOI ISSN 1525-1578

2025 Artigo em periódico

HS Ophthalmology

Ophthalmological findings in Brazilian Cornelia de Lange syndrome patients with NIPBL variants

BMC Ophthalmology

Vilella THAINÁ; Nunes Beatriz CARVALHO; Del Valle Giulia STEUERNAGEL; Pinheiro Isabel FURQUIM; Aoi HIROMI et al

DOI ISSN 1471-2415

2025 Artigo em periódico

LS Genetics

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

NATURE GENETICS

Asadollahi REZA; Ahmad AISHA; Boonsawat PARANCHAI; Shahanoor Hinzen JASMINE; Lohse MAREIKE et al

DOI ISSN 1061-4036

2025 Artigo em periódico

LS Genetics

Correction: Novel compound heterozygous ABCA2 variants cause IDPOGSA; a variable phenotypic syndrome with intellectual disability

JOURNAL OF HUMAN GENETICS

Inoue YUTA; Tsuchida NAOMI; Chong Ae KIM; De Oliveira Stephan BRUNO; Castro Matheus Augusto ARAUJO et al

DOI ISSN 1434-5161

2025 Artigo em periódico

LS Genetics

Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability

AMERICAN JOURNAL OF HUMAN GENETICS

Kröll Hermi ARIANE; Stoetzel CORINNE; Etard CHRISTELLE; Halabelian LEVON; Schaefer ELISE et al

DOI ISSN 0002-9297

2025 Artigo em periódico

LS Genetics

Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders

JOURNAL OF HUMAN GENETICS

Hayashi YUKINA; Kajiwara KENTA; Mizuno SEIJI; Okamoto NOBUHIKO; Chan Mei YAN et al

DOI ISSN 1434-5161

2024 Trabalho em evento

HS Genetics (clinical)

Case Series of Mucopolysaccharidosis Type VII: A report from tertiary center in São Paulo