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
2024	Artigo em periódico	Brazilian growth charts for Williams-Beuren Syndrome at ages 2 to 18 years Strafacci Amanda De Sousa LIMA; Bertapelli FABIO; Chong Ae KIM; Rivadeneira Maria JOSÉ; Honjo Rachel SAYURI et al Jornal de Pediatria DOI 10.1016/j.jped.2023.11.009 ISSN 0021-7557	HS Pediatrics; Perinatology and Child Health
2024	Artigo em periódico	Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders Tolezano Giovanna CANTINI; Bastos Giovanna CIVITATE; Da Costa Silvia SOUZA; Scliar Marília De OLIVEIRA; De Souza Carolina Fischinger MOURA et al MOLECULAR NEUROBIOLOGY DOI 10.1007/s12035-023-03894-8 ISSN 0893-7648	HS Genetics (clinical)
2024	Artigo em periódico	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/s10038-024-01219-8 ISSN 1434-5161	HS Genetics (clinical)
2024	Artigo em periódico	Whole genome sequencing as a first-tier diagnostic test for infants in neonatal intensive care units: <scp>A</scp> pilot study in <scp>Brazil</scp> Migliavacca Michele P; Sobreira JOSELITO; Bermeo DIANA; Gomes MIREILLE; Alencar DAYSE et al AMERICAN JOURNAL OF MEDICAL GENETICS PART A DOI 10.1002/ajmg.a.63544 ISSN 1552-4825	HS Genetics (clinical)
2024	Artigo em periódico	Advantages of whole-exome sequencing over immunomapping in 67 Brazilian patients with epidermolysis bullosa Kelmann Samantha VERNASCHI; Stephan Bruno De OLIVEIRA; Barbosa Silvia Maria De MACEDO; Polastrini Rita Tiziana VERARDO; Oliveira Zilda Najjar Prado DE et al ANAIS BRASILEIROS DE DERMATOLOGIA DOI 10.1016/j.abd.2023.07.002 ISSN 0365-0596	HS Dermatology
2024	Artigo em periódico	22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity Melissa B WALLAU; Ana Carolina XAVIER; Carolina Araujo MORENO; Chong Ae KIM; Elaine Lustosa MENDES et al Genes DOI 10.3390/genes15040518. ISSN 2073-4425	LS Genetics
2024	Artigo em periódico	Trisomy 13 with unusual histological features typically described in Beckwith-Wiedemann Spectrum W D MARLUS; E F CHAVES; F C G De AQUINO; S B De OLIVEIRA; Isabela D PASA et al AUTOPSY AND CASE REPORTS DOI 10.4322/acr.2024.486. eCollection 2024 ISSN 2236-1960	HS Pathology and Forensic Medicine
2024	Artigo em periódico	Neuropsychological Profile of 25 Brazilian Patients with 22q11.2 Deletion Syndrome: Effects of Clinical and Socioeconomic Variables Larissa S R PIMENTA; Claudia B De MELLO; Luciana M Di BENEDETTO; Diogo C Q SOARES; Kulikowski Leslie D et al Genes DOI 10.3390/genes15050595. ISSN 2073-4425	HS Genetics (clinical)
2024	Artigo em periódico	Evaluation of 73 Enlisted Patients for Liver Transplant with Unknown Etiology Reveals a Late-Diagnosed Case of Lysosomal Acid Lipase Deficiency Bastos Karina Lucio De MEDEIROS; Stephan Bruno De OLIVEIRA; Linnenkamp Bianca Domit WERNER; Costa Larissa ATHAYDE; Lima Fabiana ROBERTO et al INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES DOI 10.3390/ijms25168648 ISSN 1422-0067	HS General Medicine
2024	Artigo em periódico	The first Brazilian clinical report of Kleefstra syndrome; including semicircular canals agenesis as a possible phenotype expansion Da Cás EDUARDO; Pires Lucas V L; Linnenkamp Bianca D W; Allegro Marcella C; Honjo Rachel S et al European Journal of Medical Genetics DOI 10.1016/j.ejmg.2024.104966 ISSN 1769-7212	HS Genetics (clinical)
2024	Artigo em periódico	Audiological Characterization of Individuals with Cornelia de lange Syndrome N P SANTOS; Laf SILVA; I F Neves LOBO; Chong Ae KIM; C G MATAS INTERNATIONAL ARCHIVES OF OTORHINOLARYNGOLOGY (PRINT) DOI 10.1055/s-0044-1788001. eCollection 2024 ISSN 1809-9777	HS Otorhinolaryngology
2024	Artigo em periódico	Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network De Oliveira Bibiana MELLO; Bernardi Filipe ANDRADE; Baiochi João FRANCISCO; Neiva Mariane BARROS; Artifon MILENA et al Orphanet Journal of Rare Diseases DOI 10.1186/s13023-024-03392-7 ISSN 1750-1172	HS Epidemiology
2024	Artigo em periódico	Disease progression in Sanfilippo type B:Case s eries of Brazilian patients Yha MONTENEGRO; F KUBASKI; Fb TRAPP; M Riegel GIUGLIANI; Cfm SOUZA et al GENETICS AND MOLECULAR BIOLOGY DOI 10.1590/1678-4685-GMB-2023-0285. ISSN 1415-4757	LS Developmental Biology
2024	Artigo em periódico	Plastic Bronchitis in Noonan Syndrome: Further Evidence Suggesting a Higher Risk of Lymphatic Abnormalities in Individuals Harboring Variants in PTPN11 Residue p.Phe285 Pires Lucas Vieira LACERDA; Da Cás EDUARDO; De Melo Letícia COLE; Nakaie Cleyde Mirian AVERSA; Aiello Vera DERMACHI et al MOLECULAR SYNDROMOLOGY DOI 10.1159/000540570 ISSN 1661-8769	HS Endocrinology; Diabetes and Metabolism
2023	Capítulo de livro	Noções Básicas de Genética Chong Ae KIM; Sue Ellen PONTES Endocrinologia Pediátrica ISBN 9786556860435	HS Endocrinology; Diabetes and Metabolism
2023	Capítulo de livro	Anormalidades Cromossômicas Chong Ae KIM; Sue Ellen PONTES Endocrinologia Pediátrica ISBN 9786556860435	HS Pediatrics; Perinatology and Child Health
2023	Capítulo de livro	Doenças Monogênicas ou Mendelianas Bertola DEBORA; Chong Ae KIM Endocrinologia Pediátrica ISBN 9786556860435	HS Genetics (clinical)
2023	Capítulo de livro	Síndromes Malformativas com Anomalias do Desenvolvimento Sexual Israel GOMY; Albano Lilian Maria JOSÉ; Bertola Debora R; Chong Ae KIM Endocrinologia Pediátrica ISBN 9786556860435	HS Endocrinology; Diabetes and Metabolism
2023	Capítulo de livro	Causas Genéticas da Obesidade Chong Ae KIM; Albano Lilian Maria JOSÉ; Bertola Debora R Endocrinologia Pediátrica ISBN 9786556860435	HS Endocrinology; Diabetes and Metabolism
2023	Capítulo de livro	Genética Molecular Chong Ae KIM; Leslie D KULIKOWSKI Endocrinologia Pediátrica ISBN 9786556860435	LS Molecular Biology
2023	Capítulo de livro	A Avaliação genética no ambulatório de pediatria geral Diogo Cordeiro De Queiroz SOARES; Chong Ae KIM Medicina laboratorial em Pediatria ISBN 9786555769951	HS Pediatrics; Perinatology and Child Health
2023	Trabalho em evento	Buccal cell whole exome sequencing improves the diagnostic yield in a Cornelia de Lange Syndrome Brazilian Cohortb Beatriz Carvalho NUNES; Bianca Pereira FAVILLA; Thainá VILELLA; Isabel PINHEIRO; Haromi AOI et al European Human Genetics Conference	HS Genetics (clinical)
2023	Trabalho em evento	Clinical features in Brazilian patients with 22q deletion syndrome phenotype with and without deletion Melaragno Maria I; Ade Nbia Xavier PACANARO; Fernanda Teixeira BELLUCO; Sintia Iole BELANGERO; Mirlene Cecilia CERNACH et al 14o International Congress of Human Genetics	HS Genetics (clinical)
2023	Trabalho em evento	Kleefstra syndrome phenotype expansion: a 7 patient case series with novel clinical findings; including bilateral agenesis of the semicircular canals Eduardo Da CÁS; Lucas Vieira Lacerda PIRES; Bianca LINNENKAMP; Marcella ALLEGRO; Honjo Rachel S et al 34o Congresso Brasileiro de Genética Médica	HS Genetics (clinical)
2023	Trabalho em evento	ExomaXImmunomapping for Epidermolysis Bullosa: Study in 67 Brazilian Patients Samantha KELMANN; Bruno STEPHAN; Silvia BARBOSA; Rita POLASTRIN; Zilda OLIVEIRA et al 34o Congresso Brasileiro de Genética Médica	HS Genetics (clinical)

2024 Artigo em periódico

HS Pediatrics; Perinatology and Child Health

Brazilian growth charts for Williams-Beuren Syndrome at ages 2 to 18 years

Jornal de Pediatria

Strafacci Amanda De Sousa LIMA; Bertapelli FABIO; Chong Ae KIM; Rivadeneira Maria JOSÉ; Honjo Rachel SAYURI et al

DOI ISSN 0021-7557

2024 Artigo em periódico

HS Genetics (clinical)

Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders

MOLECULAR NEUROBIOLOGY

Tolezano Giovanna CANTINI; Bastos Giovanna CIVITATE; Da Costa Silvia SOUZA; Scliar Marília De OLIVEIRA; De Souza Carolina Fischinger MOURA et al

DOI ISSN 0893-7648

2024 Artigo em periódico

HS Genetics (clinical)

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

2024 Artigo em periódico

HS Genetics (clinical)

Whole genome sequencing as a first-tier diagnostic test for infants in neonatal intensive care units: <scp>A</scp> pilot study in <scp>Brazil</scp>

AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Migliavacca Michele P; Sobreira JOSELITO; Bermeo DIANA; Gomes MIREILLE; Alencar DAYSE et al

DOI ISSN 1552-4825

2024 Artigo em periódico

HS Dermatology

Advantages of whole-exome sequencing over immunomapping in 67 Brazilian patients with epidermolysis bullosa

ANAIS BRASILEIROS DE DERMATOLOGIA

Kelmann Samantha VERNASCHI; Stephan Bruno De OLIVEIRA; Barbosa Silvia Maria De MACEDO; Polastrini Rita Tiziana VERARDO; Oliveira Zilda Najjar Prado DE et al

DOI ISSN 0365-0596

2024 Artigo em periódico

LS Genetics

22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity

Genes

Melissa B WALLAU; Ana Carolina XAVIER; Carolina Araujo MORENO; Chong Ae KIM; Elaine Lustosa MENDES et al

DOI ISSN 2073-4425

2024 Artigo em periódico

HS Pathology and Forensic Medicine

Trisomy 13 with unusual histological features typically described in Beckwith-Wiedemann Spectrum

AUTOPSY AND CASE REPORTS

W D MARLUS; E F CHAVES; F C G De AQUINO; S B De OLIVEIRA; Isabela D PASA et al

DOI ISSN 2236-1960

2024 Artigo em periódico

HS Genetics (clinical)

Neuropsychological Profile of 25 Brazilian Patients with 22q11.2 Deletion Syndrome: Effects of Clinical and Socioeconomic Variables

Genes

Larissa S R PIMENTA; Claudia B De MELLO; Luciana M Di BENEDETTO; Diogo C Q SOARES; Kulikowski Leslie D et al

DOI ISSN 2073-4425

2024 Artigo em periódico

HS General Medicine

Evaluation of 73 Enlisted Patients for Liver Transplant with Unknown Etiology Reveals a Late-Diagnosed Case of Lysosomal Acid Lipase Deficiency

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Bastos Karina Lucio De MEDEIROS; Stephan Bruno De OLIVEIRA; Linnenkamp Bianca Domit WERNER; Costa Larissa ATHAYDE; Lima Fabiana ROBERTO et al

DOI ISSN 1422-0067

2024 Artigo em periódico

HS Genetics (clinical)

The first Brazilian clinical report of Kleefstra syndrome; including semicircular canals agenesis as a possible phenotype expansion

European Journal of Medical Genetics

Da Cás EDUARDO; Pires Lucas V L; Linnenkamp Bianca D W; Allegro Marcella C; Honjo Rachel S et al

DOI ISSN 1769-7212

2024 Artigo em periódico

HS Otorhinolaryngology

Audiological Characterization of Individuals with Cornelia de lange Syndrome

INTERNATIONAL ARCHIVES OF OTORHINOLARYNGOLOGY (PRINT)

N P SANTOS; Laf SILVA; I F Neves LOBO; Chong Ae KIM; C G MATAS

DOI ISSN 1809-9777

2024 Artigo em periódico

HS Epidemiology

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

Orphanet Journal of Rare Diseases

De Oliveira Bibiana MELLO; Bernardi Filipe ANDRADE; Baiochi João FRANCISCO; Neiva Mariane BARROS; Artifon MILENA et al

DOI ISSN 1750-1172

2024 Artigo em periódico

LS Developmental Biology

Disease progression in Sanfilippo type B:Case s eries of Brazilian patients

GENETICS AND MOLECULAR BIOLOGY

Yha MONTENEGRO; F KUBASKI; Fb TRAPP; M Riegel GIUGLIANI; Cfm SOUZA et al

DOI ISSN 1415-4757

2024 Artigo em periódico

HS Endocrinology; Diabetes and Metabolism

Plastic Bronchitis in Noonan Syndrome: Further Evidence Suggesting a Higher Risk of Lymphatic Abnormalities in Individuals Harboring Variants in PTPN11 Residue p.Phe285

MOLECULAR SYNDROMOLOGY

Pires Lucas Vieira LACERDA; Da Cás EDUARDO; De Melo Letícia COLE; Nakaie Cleyde Mirian AVERSA; Aiello Vera DERMACHI et al

DOI ISSN 1661-8769

2023 Capítulo de livro

HS Endocrinology; Diabetes and Metabolism

Noções Básicas de Genética

Endocrinologia Pediátrica

Chong Ae KIM; Sue Ellen PONTES

ISBN 9786556860435

2023 Capítulo de livro

HS Pediatrics; Perinatology and Child Health

Anormalidades Cromossômicas

Endocrinologia Pediátrica

Chong Ae KIM; Sue Ellen PONTES

ISBN 9786556860435

2023 Capítulo de livro

HS Genetics (clinical)

Doenças Monogênicas ou Mendelianas

Endocrinologia Pediátrica

Bertola DEBORA; Chong Ae KIM

ISBN 9786556860435

2023 Capítulo de livro

HS Endocrinology; Diabetes and Metabolism

Síndromes Malformativas com Anomalias do Desenvolvimento Sexual

Endocrinologia Pediátrica

Israel GOMY; Albano Lilian Maria JOSÉ; Bertola Debora R; Chong Ae KIM

ISBN 9786556860435

2023 Capítulo de livro

HS Endocrinology; Diabetes and Metabolism

Causas Genéticas da Obesidade

Endocrinologia Pediátrica

Chong Ae KIM; Albano Lilian Maria JOSÉ; Bertola Debora R

ISBN 9786556860435

2023 Capítulo de livro

LS Molecular Biology

Genética Molecular

Endocrinologia Pediátrica

Chong Ae KIM; Leslie D KULIKOWSKI

ISBN 9786556860435

2023 Capítulo de livro

HS Pediatrics; Perinatology and Child Health

A Avaliação genética no ambulatório de pediatria geral

Medicina laboratorial em Pediatria

Diogo Cordeiro De Queiroz SOARES; Chong Ae KIM

ISBN 9786555769951

2023 Trabalho em evento

HS Genetics (clinical)

Buccal cell whole exome sequencing improves the diagnostic yield in a Cornelia de Lange Syndrome Brazilian Cohortb

European Human Genetics Conference

Beatriz Carvalho NUNES; Bianca Pereira FAVILLA; Thainá VILELLA; Isabel PINHEIRO; Haromi AOI et al

2023 Trabalho em evento

HS Genetics (clinical)

Clinical features in Brazilian patients with 22q deletion syndrome phenotype with and without deletion

14o International Congress of Human Genetics

Melaragno Maria I; Ade Nbia Xavier PACANARO; Fernanda Teixeira BELLUCO; Sintia Iole BELANGERO; Mirlene Cecilia CERNACH et al

2023 Trabalho em evento

HS Genetics (clinical)

Kleefstra syndrome phenotype expansion: a 7 patient case series with novel clinical findings; including bilateral agenesis of the semicircular canals

34o Congresso Brasileiro de Genética Médica

Eduardo Da CÁS; Lucas Vieira Lacerda PIRES; Bianca LINNENKAMP; Marcella ALLEGRO; Honjo Rachel S et al

2023 Trabalho em evento

HS Genetics (clinical)

ExomaXImmunomapping for Epidermolysis Bullosa: Study in 67 Brazilian Patients

34o Congresso Brasileiro de Genética Médica

Samantha KELMANN; Bruno STEPHAN; Silvia BARBOSA; Rita POLASTRIN; Zilda OLIVEIRA et al