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
2022	Artigo em periódico	Impact of achondroplasia on Latin American patients: a systematic review and meta-analysis of observational studies Virginia FANO; Chong Ae KIM; Pablo ROSSELLE; Regina El DEB; Renée SHEDIAC et al Orphanet Journal of Rare Diseases DOI 10.1186/s13023-021-02142-3. ISSN 1750-1172	HS Neurology (clinical)
2022	Artigo em periódico	Vertebral segmentation defects in a Brazilian cohort: Clinical and molecular analysis focused on spondylocostal dysostosis Bianca LINNENKAMP; R GIRARDI; L ROCHA; G YAMAMOTO; J R CERONI et al CLINICAL GENETICS DOI 10.1111/cge.14118. Epub 2022 Feb 9. ISSN 0009-9163	LS Genetics
2022	Artigo em periódico	The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non-Morrocan ancestry Taccianna M ALI; B LINNENKAMP; Guilherme L YAMAMOTO; Rachel Sayuri HONJO; Hamilton Cabral De Menezes FILHO et al AMERICAN JOURNAL OF MEDICAL GENETICS PART A DOI 10.1002/ajmg.a.62651. ISSN 1552-4825	HS Genetics (clinical)
2022	Artigo em periódico	Frequency of carriers for rare metabolic diseases in a Brazilian cohort of 320 patients Quaio Caio Robledo D Angioli COSTA; Moreira Caroline MONACO; Chung Christine HSIAOYUN; Perazzio Sandro FELIX; Dutra Aurelio PIMENTA et al MOLECULAR BIOLOGY REPORTS DOI 10.1007/s11033-022-07241-3 ISSN 0301-4851	LS Genetics
2022	Artigo em periódico	Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN) Félix Têmis MARIA; De Oliveira Bibiana MELLO; Artifon MILENA; Carvalho ISABELLE; Bernardi Filipe ANDRADE et al Orphanet Journal of Rare Diseases DOI 10.1186/s13023-022-02254-4 ISSN 1750-1172	HS Epidemiology
2022	Artigo em periódico	Sanfilippo syndrome type B: Analysis of patients diagnosed by the <scp>MPS</scp> Brazil Network Montenegro Yorran Hardman ARAÚJO; Souza Carolina Fischinger MOURA; Kubaski FRANCYNE; Trapp Franciele BARBOSA; Burin Maira GRAEFF et al AMERICAN JOURNAL OF MEDICAL GENETICS PART A DOI 10.1002/ajmg.a.62572 ISSN 1552-4825	HS Genetics (clinical)
2022	Artigo em periódico	Novel CLTC variants cause new brain and kidney phenotypes Itai TOSHIYUKI; Miyatake SATOKO; Tsuchida NAOMI; Saida KEN; Narahara SHO et al JOURNAL OF HUMAN GENETICS DOI 10.1038/s10038-021-00957-3 ISSN 1434-5161	LS Genetics
2022	Artigo em periódico	Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseases Quaio Caio Robledo D Angioli COSTA; Ceroni Jose Ricardo MAGLIOCCO; Cervato Murilo CASTRO; Thurow Helena STRELOW; Moreira Caroline MONACO et al Scientific Reports DOI 10.1038/s41598-022-11932-z ISSN 2045-2322	LS Genetics
2022	Artigo em periódico	Impact of ERT and follow-up of 17 patients from the same family with a mild form of MPS II Stephan Bruno De OLIVEIRA; Quaio Caio ROBLEDO; Spolador Gustavo MARQUEZANI; De Paula Ana CAROLINA; Curiati Marco ANTÔNIO et al Clinics DOI 10.1016/j.clinsp.2022.100082 ISSN 1807-5932	HS Medicine (miscellaneous)
2022	Artigo em periódico	Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome Seyama RIE; Uchiyama YURI; Ceroni José Ricard MAGLIOCCO; Kim Veronica Eun HUE; Furquim ISABEL et al GENOMICS DOI 10.1016/j.ygeno.2022.110468 ISSN 0888-7543	LS Genetics
2022	Artigo em periódico	Novel rearrangements between different chromosomes with direct impact on the diagnosis of 5p- syndrome Chehimi Samar NASSER; Almeida Vanessa TAVARES; Nascimento Amom MENDES; Zanardo Évelin ALINE; De Oliveira Yanca GASPARINI et al Clinics DOI 10.1016/j.clinsp.2022.100045 ISSN 1807-5932	HS Genetics (clinical)
2022	Artigo em periódico	Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients Llerena JUAN; Chong Ae KIM; 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	Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy Sakamoto MASAMUNE; Iwama KAZUHIRO; Sasaki MASAYUKI; Ishiyama AKIHIKO; Komaki HIROFUMI et al GENETICS IN MEDICINE DOI 10.1016/j.gim.2022.08.007 ISSN 1098-3600	HS Genetics (clinical)
2022	Artigo em periódico	A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders Afif Ben MAHMOUD; Kyung Ran JUN; Vijay GUPTA; Pinang SHASTRI; Alberto De La FUENTE et al Frontiers in Molecular Neuroscience DOI 10.3389/fnmol.2022.979061. eCollection 2022. PMID: 36277487 ISSN 1662-5099	LS Genetics
2022	Artigo em periódico	Exome sequencingof 500 Brazilian patients with rare diseases: What we have learned Caio R D C QUAIO; C M MOREIRA; C H CHUNG; S F PERAZZIO; A P DUTRA et al Sao Paulo Medical Journal DOI 10.1590/1516-3180.2022.0076.R1.21072022. ISSN 1516-3180	LS Genetics
2022	Artigo em periódico	Cytogenomics Investigation of Infants with Congenital Heart Disease: Experience of a Brazilian Center Marcilia S GRASSI; Marilia MONTENEGRO; Evelin Aline ZANARDO; Antonio Carlos PASTORINO; Mayra Barros DORNA et al Arquivos Brasileiros de Cardiologia DOI 10.36660/abc20190894 ISSN 0066-782X	HS Pediatrics; Perinatology and Child Health
2022	Artigo em periódico	Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature Tolezano Giovanna CANTINI; Bastos Giovanna CIVITATE; Da Costa Silvia SOUZA; Freire Bruna LUCHEZE; Homma Thais KATAOKA et al JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS DOI 10.1007/s10803-022-05853-z ISSN 0162-3257	HS Genetics (clinical)
2022	Artigo em periódico	Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals Saida KEN; Maroofian REZA; Sengoku TORU; Mitani TADAHIRO; Pagnamenta Alistair T et al GENETICS IN MEDICINE DOI 10.1016/j.gim.2022.09.010 ISSN 1098-3600	HS Genetics (clinical)
2022	Artigo em periódico	Cri-du-Chat Syndrome: Revealing a Familial Atypical Deletion in 5p Almeida Vanessa T; Chehimi Samar N; Gasparini YANCA; Nascimento Amom M; Carvalho Gleyson F S et al MOLECULAR SYNDROMOLOGY DOI 10.1159/000524371 ISSN 1661-8769	LS Genetics
2021	Capítulo de livro	Abordagem Prática do Paciente com Malformação Congênita Chong Ae KIM; Caio Robledo Dángioli Costa QUAIO; Diogo Coredeiro De Queiroz SOARES Série Manual do Médico-Residente do Hospital das Clínicas da faculdade de Medicina da Universidade de São Paulo-Pediatria ISBN 9786555863505	HS Neurology (clinical)
2021	Capítulo de livro	Principais Síndromes de Origem Genética Chong Ae KIM; Quaio Caio Robledo D Angioli COSTA; Diogo Cordeiro De Queiroz SOARES Série Manual do Médico-Residente do Hospital das Clínicas da faculdade de Medicina da Universidade de São Paulo-Pediatria ISBN 9786555863505	LS Genetics
2021	Artigo em periódico	A Brazilian case arising from a homozygous canonical splice site variant leading in-frame deletion Miyake NORIKO; Oliveira Stephan BRUNO; Chong Ae KIM; Matsumoto NAOMICHI CLINICAL GENETICS DOI 10.1111/cge.13909 ISSN 0009-9163	PS Artificial Intelligence
2021	Artigo em periódico	Abnormal auditory event-related potentials in Williams syndrome Fagundes Silva Liliane APARECIDA; Honjo Kawahira Rachel SAYURI; Chong Ae KIM; Matas Carla GENTILE European Journal of Medical Genetics DOI 10.1016/j.ejmg.2021.104163 ISSN 1769-7212	HS Medicine (miscellaneous)
2021	Artigo em periódico	Cerebellofaciodental syndrome in an adult patient: Expanding the phenotypic and natural history characteristics Honjo Rachel SAYURI; Castro Matheus Augusto ARAÚJO; Ferraciolli Suely FAZIO; Soares Junior Luiz Alberto VALENTE; Pastorino Antonio CARLOS et al AMERICAN JOURNAL OF MEDICAL GENETICS PART A DOI 10.1002/ajmg.a.62140 ISSN 1552-4825	LS Neurology
2021	Artigo em periódico	Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey study Horovitz Dafne D G; Leão Emília K E A; Ribeiro Erlane M; Martins Ana M; Barth Anneliese L et al MOLECULAR GENETICS AND METABOLISM DOI 10.1016/j.ymgme.2021.02.006 ISSN 1096-7192	LS Molecular Medicine

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

Virginia FANO; Chong Ae KIM; Pablo ROSSELLE; Regina El DEB; Renée SHEDIAC et al

DOI ISSN 1750-1172

2022 Artigo em periódico

LS Genetics

Vertebral segmentation defects in a Brazilian cohort: Clinical and molecular analysis focused on spondylocostal dysostosis

CLINICAL GENETICS

Bianca LINNENKAMP; R GIRARDI; L ROCHA; G YAMAMOTO; J R CERONI et al

DOI ISSN 0009-9163

2022 Artigo em periódico

HS Genetics (clinical)

The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non-Morrocan ancestry

AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Taccianna M ALI; B LINNENKAMP; Guilherme L YAMAMOTO; Rachel Sayuri HONJO; Hamilton Cabral De Menezes FILHO et al

DOI ISSN 1552-4825

2022 Artigo em periódico

LS Genetics

Frequency of carriers for rare metabolic diseases in a Brazilian cohort of 320 patients

MOLECULAR BIOLOGY REPORTS

Quaio Caio Robledo D Angioli COSTA; Moreira Caroline MONACO; Chung Christine HSIAOYUN; Perazzio Sandro FELIX; Dutra Aurelio PIMENTA et al

DOI ISSN 0301-4851

2022 Artigo em periódico

HS Epidemiology

Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN)

Orphanet Journal of Rare Diseases

Félix Têmis MARIA; De Oliveira Bibiana MELLO; Artifon MILENA; Carvalho ISABELLE; Bernardi Filipe ANDRADE et al

DOI ISSN 1750-1172

2022 Artigo em periódico

HS Genetics (clinical)

Sanfilippo syndrome type B: Analysis of patients diagnosed by the <scp>MPS</scp> Brazil Network

AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Montenegro Yorran Hardman ARAÚJO; Souza Carolina Fischinger MOURA; Kubaski FRANCYNE; Trapp Franciele BARBOSA; Burin Maira GRAEFF et al

DOI ISSN 1552-4825

2022 Artigo em periódico

LS Genetics

Novel CLTC variants cause new brain and kidney phenotypes

JOURNAL OF HUMAN GENETICS

Itai TOSHIYUKI; Miyatake SATOKO; Tsuchida NAOMI; Saida KEN; Narahara SHO et al

DOI ISSN 1434-5161

2022 Artigo em periódico

LS Genetics

Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseases

Scientific Reports

Quaio Caio Robledo D Angioli COSTA; Ceroni Jose Ricardo MAGLIOCCO; Cervato Murilo CASTRO; Thurow Helena STRELOW; Moreira Caroline MONACO et al

DOI ISSN 2045-2322

2022 Artigo em periódico

HS Medicine (miscellaneous)

Impact of ERT and follow-up of 17 patients from the same family with a mild form of MPS II

Clinics

Stephan Bruno De OLIVEIRA; Quaio Caio ROBLEDO; Spolador Gustavo MARQUEZANI; De Paula Ana CAROLINA; Curiati Marco ANTÔNIO et al

DOI ISSN 1807-5932

2022 Artigo em periódico

LS Genetics

Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome

GENOMICS

Seyama RIE; Uchiyama YURI; Ceroni José Ricard MAGLIOCCO; Kim Veronica Eun HUE; Furquim ISABEL et al

DOI ISSN 0888-7543

2022 Artigo em periódico

HS Genetics (clinical)

Novel rearrangements between different chromosomes with direct impact on the diagnosis of 5p- syndrome

Clinics

Chehimi Samar NASSER; Almeida Vanessa TAVARES; Nascimento Amom MENDES; Zanardo Évelin ALINE; De Oliveira Yanca GASPARINI et al

DOI ISSN 1807-5932

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

Llerena JUAN; Chong Ae KIM; Fano VIRGINIA; Rosselli PABLO; Collett Solberg Paulo FERREZ et al

DOI ISSN 1471-2431

2022 Artigo em periódico

HS Genetics (clinical)

Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy

GENETICS IN MEDICINE

Sakamoto MASAMUNE; Iwama KAZUHIRO; Sasaki MASAYUKI; Ishiyama AKIHIKO; Komaki HIROFUMI et al

DOI ISSN 1098-3600

2022 Artigo em periódico

LS Genetics

A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders

Frontiers in Molecular Neuroscience

Afif Ben MAHMOUD; Kyung Ran JUN; Vijay GUPTA; Pinang SHASTRI; Alberto De La FUENTE et al

DOI ISSN 1662-5099

2022 Artigo em periódico

LS Genetics

Exome sequencingof 500 Brazilian patients with rare diseases: What we have learned

Sao Paulo Medical Journal

Caio R D C QUAIO; C M MOREIRA; C H CHUNG; S F PERAZZIO; A P DUTRA et al

DOI ISSN 1516-3180

2022 Artigo em periódico

HS Pediatrics; Perinatology and Child Health

Cytogenomics Investigation of Infants with Congenital Heart Disease: Experience of a Brazilian Center

Arquivos Brasileiros de Cardiologia

Marcilia S GRASSI; Marilia MONTENEGRO; Evelin Aline ZANARDO; Antonio Carlos PASTORINO; Mayra Barros DORNA et al

DOI ISSN 0066-782X

2022 Artigo em periódico

HS Genetics (clinical)

Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature

JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS

Tolezano Giovanna CANTINI; Bastos Giovanna CIVITATE; Da Costa Silvia SOUZA; Freire Bruna LUCHEZE; Homma Thais KATAOKA et al

DOI ISSN 0162-3257

2022 Artigo em periódico

HS Genetics (clinical)

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals

GENETICS IN MEDICINE

Saida KEN; Maroofian REZA; Sengoku TORU; Mitani TADAHIRO; Pagnamenta Alistair T et al

DOI ISSN 1098-3600

2022 Artigo em periódico

LS Genetics

Cri-du-Chat Syndrome: Revealing a Familial Atypical Deletion in 5p

MOLECULAR SYNDROMOLOGY

Almeida Vanessa T; Chehimi Samar N; Gasparini YANCA; Nascimento Amom M; Carvalho Gleyson F S et al

DOI ISSN 1661-8769

2021 Capítulo de livro

HS Neurology (clinical)

Abordagem Prática do Paciente com Malformação Congênita

Série Manual do Médico-Residente do Hospital das Clínicas da faculdade de Medicina da Universidade de São Paulo-Pediatria

Chong Ae KIM; Caio Robledo Dángioli Costa QUAIO; Diogo Coredeiro De Queiroz SOARES

ISBN 9786555863505

2021 Capítulo de livro

LS Genetics

Principais Síndromes de Origem Genética

Série Manual do Médico-Residente do Hospital das Clínicas da faculdade de Medicina da Universidade de São Paulo-Pediatria

Chong Ae KIM; Quaio Caio Robledo D Angioli COSTA; Diogo Cordeiro De Queiroz SOARES

ISBN 9786555863505

2021 Artigo em periódico

PS Artificial Intelligence

A Brazilian case arising from a homozygous canonical splice site variant leading in-frame deletion

CLINICAL GENETICS

Miyake NORIKO; Oliveira Stephan BRUNO; Chong Ae KIM; Matsumoto NAOMICHI

DOI ISSN 0009-9163

2021 Artigo em periódico

HS Medicine (miscellaneous)

Abnormal auditory event-related potentials in Williams syndrome

European Journal of Medical Genetics

Fagundes Silva Liliane APARECIDA; Honjo Kawahira Rachel SAYURI; Chong Ae KIM; Matas Carla GENTILE

DOI ISSN 1769-7212

2021 Artigo em periódico

LS Neurology

Cerebellofaciodental syndrome in an adult patient: Expanding the phenotypic and natural history characteristics

AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Honjo Rachel SAYURI; Castro Matheus Augusto ARAÚJO; Ferraciolli Suely FAZIO; Soares Junior Luiz Alberto VALENTE; Pastorino Antonio CARLOS et al

DOI ISSN 1552-4825

2021 Artigo em periódico

LS Molecular Medicine

Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey study

MOLECULAR GENETICS AND METABOLISM

Horovitz Dafne D G; Leão Emília K E A; Ribeiro Erlane M; Martins Ana M; Barth Anneliese L et al

DOI ISSN 1096-7192