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
2021	Artigo em periódico	Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct <scp> GLB1</i> </scp> -related phenotype Stockler Ipsiroglu SYLVIA; Yazdanpanah NAHID; Yazdanpanah MOJGAN; Moisa Popurs MARIOARA; Yuskiv NATALIYA et al JIMD REPORTS DOI 10.1002/jmd2.12211 ISSN 2192-8312	HS Genetics (clinical)
2021	Artigo em periódico	Mucopolysaccharidosis VII in Brazil: natural history and clinical findings Giugliani ROBERTO; Barth Anneliese LOPES; Dumas Melissa Rossi CALVÃO; Da Silva Franco José FRANCISCO; De Rosso Giuliani LIANE et al Orphanet Journal of Rare Diseases DOI 10.1186/s13023-021-01870-w ISSN 1750-1172	LS Genetics
2021	Artigo em periódico	Auditory hypersensitivity in Williams syndrome Silva Liliane Aparecida FAGUNDES; Kawahira Rachel Sayuri HONJO; Chong Ae KIM; Matas Carla GENTILE INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY DOI 10.1016/j.ijporl.2021.110740 ISSN 0165-5876	SH Language and Linguistics
2021	Artigo em periódico	Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome Josahkian Juliana ALVES; Brusius Facchin Ana CAROLINA; Netto Alice Brinckmann OLIVEIRA; Leistner Segal SANDRA; Málaga Diana ROJAS et al AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS DOI 10.1002/ajmg.c.31915 ISSN 1552-4868	HS Genetics (clinical)
2021	Artigo em periódico	Williams syndrome Kozel Beth A; Barak BOAZ; Chong Ae KIM; Mervis Carolyn B; Osborne Lucy R et al Nature Reviews Disease Primers DOI 10.1038/s41572-021-00276-z ISSN 2056-676X	HS Genetics (clinical)
2021	Artigo em periódico	Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders H J MAY; J JEONG; A Revah POLITI; J S COHEN; A CHASSEVENT et al GENETICS IN MEDICINE DOI 10.1038/s41436-021-01222-w. ISSN 1098-3600	HS Genetics (clinical)
2021	Artigo em periódico	Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients Quaio Caio Robledo D Angioli COSTA; Chung Christine HSIAOYUN; Perazzio Sandro FELIX; Dutra Aurelio PIMENTA; Moreira Caroline MONACO et al AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS DOI 10.1002/ajmg.c.31932 ISSN 1552-4868	HS Genetics (clinical)
2021	Artigo em periódico	De novo pathogenic <scp> DHX30</i> </scp> variants in two cases Miyake NORIKO; Chong Ae KIM; Haginoya KAZUHIRO; Castro Matheus Augusto ARAUJO; Honjo Rachel SAYRURI et al CLINICAL GENETICS DOI 10.1111/cge.14013 ISSN 0009-9163	LS Genetics
2021	Artigo em periódico	Atypical; severe hypertrophic cardiomyopathy in a newborn presenting Noonan syndrome harboring a recurrent heterozygous MRAS variant Lvl PIRES; Ra BORDIN; Mbr MACIEL; Acs TANAKA; Gl YAMAMOTO et al AMERICAN JOURNAL OF MEDICAL GENETICS PART A DOI 10.1002/ajmg.a.62376. ISSN 1552-4825	HS Cardiology and Cardiovascular Medicine
2021	Artigo em periódico	Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms Rocha Letícia ALVES; Pires Lucas Vieira LACERDA; Yamamoto Guilherme LOPES; Ceroni José RICARDO; Honjo Rachel SAYURI et al CLINICAL GENETICS DOI 10.1111/cge.14041 ISSN 0009-9163	LS Genetics
2021	Artigo em periódico	Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases Caio Robledo Dángioli Costa QUAIO; Maria Jose Rivadeneira OBANDO; Sandro Felix PERAZZIO; Aurelio Pimenta DUTRA; Christine Hsiaoyun CHUNG et al GENETICS AND MOLECULAR BIOLOGY DOI 10.1590/1678-4685-GMB-2021-0061. eCollection 2021 ISSN 1415-4757	LS Molecular Biology
2021	Artigo em periódico	Twenty-year follow-up of the facial phenotype of Brazilian patients with Sotos syndrome Castro Matheus Augusto ARAÚJO; Santos Juliana Heather VEDOVATO; Honjo Rachel SAYURI; Yamamoto Guilherme LOPES; Bertola Débora ROMEO et al AMERICAN JOURNAL OF MEDICAL GENETICS PART A DOI 10.1002/ajmg.a.62454 ISSN 1552-4825	LS Neurology
2021	Artigo em periódico	Nationwide questionnaire data of 229 Williams-Beuren syndrome patients using WhatsApp tool Pires Lucas Vieira LACERDA; Ribeiro Rogério LEMOS; Sousa Adriana Modesto DE; Linnenkamp Bianca Domit WERNER; Pontes Sue ELLEN et al Arquivos de Neuro-Psiquiatria (Online) DOI 10.1590/0004-282x-anp-2020-0450 ISSN 1678-4227	HS Medicine (miscellaneous)
2021	Artigo em periódico	Insights from the genetic characterization of central precocious puberty associated with multiple anomalies Canton Ana Pinheiro MACHADO; Krepischi Ana Cristina VICTORINO; Montenegro Luciana RIBEIRO; Costa SILVIA; Rosenberg CARLA et al HUMAN REPRODUCTION DOI 10.1093/humrep/deaa306 ISSN 0268-1161	HS Pediatrics; Perinatology and Child Health
2020	Artigo em periódico	Gene expression profile suggesting immunological dysregulation in two Brazilian Bloom's syndrome cases Montenegro Marilia M; Quaio Caio R; Palmeira PATRICIA; Gasparini YANCA; Rangel Santos ANDREIA et al MOLECULAR GENETICS & GENOMIC MEDICINE DOI 10.1002/mgg3.1133 ISSN 2324-9269	LS Genetics
2020	Artigo em periódico	Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation Honjo Rachel SAYURI; Vaca Evelyn Cristina NUÑEZ; Leal Gabriela NUNES; Abellan Deipara MONTEIRO; Ikari Nana MIURA et al BMC Medical Genetics DOI 10.1186/s12881-020-0972-y ISSN 1471-2350	HS Neurology (clinical)
2020	Artigo em periódico	Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus Wagner MATIAS; Lévy JONATHAN; Jung Klawitter SABINE; Bakhtiari SOMAYEH; Monteiro FABIOLA et al GENETICS IN MEDICINE DOI 10.1038/s41436-020-0768-7 ISSN 1098-3600	HS Genetics (clinical)
2020	Artigo em periódico	Breakpoint delineation in 5p- patients leads to new insights about microcephaly and the typical high-pitched cry Chehimi Samar N; Zanardo Évelin A; Ceroni José R M; Nascimento Amom M; Madia Fabrícia A R et al MOLECULAR GENETICS & GENOMIC MEDICINE DOI 10.1002/mgg3.957 ISSN 2324-9269	LS Developmental Biology
2020	Artigo em periódico	Identifying NAHR mechanism between two distinct Alu elements through breakpoint junction mapping by NGS Novo Filho Gil M; Carvalho Gleyson F S; Nascimento Amom M; Montenegro Marilia M; Damasceno Jullian G et al META GENE DOI 10.1016/j.mgene.2020.100702 ISSN 2214-5400	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2020	Artigo em periódico	Lymphoproliferative disorder with polyautoimmunity and hypogammaglobulinemia: An unusual presentation of 22q11.2 deletion syndrome Soares Diogo C; Dantas Anelisa G; Matta Marina C; Pastorino Antonio C; Melaragno Maria ISABEL et al CLINICAL IMMUNOLOGY DOI 10.1016/j.clim.2020.108590 ISSN 1521-6616	LS Genetics
2020	Artigo em periódico	Phenotype-genotype analysis of 242 individuals with : 18-year experience of a tertiary center in Brazil Bertola Débora R; Castro Matheus A A; Yamamoto Guilherme L; Honjo Rachel S; Ceroni José RICARDO et al AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS DOI 10.1002/ajmg.c.31851 ISSN 1552-4868	HS Genetics (clinical)
2020	Artigo em periódico	Efficient detection of copy-number variations using exome data: batch- and sex-based analyses Uchiyama YURI; Yamaguchi DAISUKE; Iwama KAZUHIRO; Miyatake SATOKO; Hamanaka KOHEI et al HUMAN MUTATION DOI 10.1002/humu.24129 ISSN 1059-7794	HS Genetics (clinical)
2020	Artigo em periódico	Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases Quaio Caio Robledo D Angioli COSTA; Moreira Caroline MONACO; Novo Filho Gil MONTEIRO; Sacramento Bobotis Patricia ROSSI; Groenner Penna MICHELE et al AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS DOI 10.1002/ajmg.c.31860 ISSN 1552-4868	HS Genetics (clinical)
2020	Artigo em periódico	Expanding the role of SETD5</i> haploinsufficiency in neurodevelopment and neuroblastoma Pires Sara FERREIRA; Tolezano Giovanna CANTINI; Da Costa Silvia SOUZA; Kawahira Rachel Sayuri HONJO; Chong Ae KIM et al PEDIATRIC BLOOD & CANCER DOI 10.1002/pbc.28376 ISSN 1545-5009	LS Neuroscience (miscellaneous)
2020	Artigo em periódico	Targeted massively parallel sequencing for congenital generalized lipodystrophy Costa Riquetto Aline D; Santana Lucas S; Caetano Lílian A; Lerário Antônio M; Correia Deur Joya E M et al Archives of Endocrinology Metabolism DOI 10.20945/2359-3997000000278 ISSN 2359-3997	HS Endocrinology; Diabetes and Metabolism

2021 Artigo em periódico

HS Genetics (clinical)

Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct <scp> GLB1</i> </scp> -related phenotype

JIMD REPORTS

Stockler Ipsiroglu SYLVIA; Yazdanpanah NAHID; Yazdanpanah MOJGAN; Moisa Popurs MARIOARA; Yuskiv NATALIYA et al

DOI ISSN 2192-8312

2021 Artigo em periódico

LS Genetics

Mucopolysaccharidosis VII in Brazil: natural history and clinical findings

Orphanet Journal of Rare Diseases

Giugliani ROBERTO; Barth Anneliese LOPES; Dumas Melissa Rossi CALVÃO; Da Silva Franco José FRANCISCO; De Rosso Giuliani LIANE et al

DOI ISSN 1750-1172

2021 Artigo em periódico

SH Language and Linguistics

Auditory hypersensitivity in Williams syndrome

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Silva Liliane Aparecida FAGUNDES; Kawahira Rachel Sayuri HONJO; Chong Ae KIM; Matas Carla GENTILE

DOI ISSN 0165-5876

2021 Artigo em periódico

HS Genetics (clinical)

Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Josahkian Juliana ALVES; Brusius Facchin Ana CAROLINA; Netto Alice Brinckmann OLIVEIRA; Leistner Segal SANDRA; Málaga Diana ROJAS et al

DOI ISSN 1552-4868

2021 Artigo em periódico

HS Genetics (clinical)

Williams syndrome

Nature Reviews Disease Primers

Kozel Beth A; Barak BOAZ; Chong Ae KIM; Mervis Carolyn B; Osborne Lucy R et al

DOI ISSN 2056-676X

2021 Artigo em periódico

HS Genetics (clinical)

Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders

GENETICS IN MEDICINE

H J MAY; J JEONG; A Revah POLITI; J S COHEN; A CHASSEVENT et al

DOI ISSN 1098-3600

2021 Artigo em periódico

HS Genetics (clinical)

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

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

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

DOI ISSN 1552-4868

2021 Artigo em periódico

LS Genetics

De novo pathogenic <scp> DHX30</i> </scp> variants in two cases

CLINICAL GENETICS

Miyake NORIKO; Chong Ae KIM; Haginoya KAZUHIRO; Castro Matheus Augusto ARAUJO; Honjo Rachel SAYRURI et al

DOI ISSN 0009-9163

2021 Artigo em periódico

HS Cardiology and Cardiovascular Medicine

Atypical; severe hypertrophic cardiomyopathy in a newborn presenting Noonan syndrome harboring a recurrent heterozygous MRAS variant

AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Lvl PIRES; Ra BORDIN; Mbr MACIEL; Acs TANAKA; Gl YAMAMOTO et al

DOI ISSN 1552-4825

2021 Artigo em periódico

LS Genetics

Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms

CLINICAL GENETICS

Rocha Letícia ALVES; Pires Lucas Vieira LACERDA; Yamamoto Guilherme LOPES; Ceroni José RICARDO; Honjo Rachel SAYURI et al

DOI ISSN 0009-9163

2021 Artigo em periódico

LS Molecular Biology

Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases

GENETICS AND MOLECULAR BIOLOGY

Caio Robledo Dángioli Costa QUAIO; Maria Jose Rivadeneira OBANDO; Sandro Felix PERAZZIO; Aurelio Pimenta DUTRA; Christine Hsiaoyun CHUNG et al

DOI ISSN 1415-4757

2021 Artigo em periódico

LS Neurology

Twenty-year follow-up of the facial phenotype of Brazilian patients with Sotos syndrome

AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Castro Matheus Augusto ARAÚJO; Santos Juliana Heather VEDOVATO; Honjo Rachel SAYURI; Yamamoto Guilherme LOPES; Bertola Débora ROMEO et al

DOI ISSN 1552-4825

2021 Artigo em periódico

HS Medicine (miscellaneous)

Nationwide questionnaire data of 229 Williams-Beuren syndrome patients using WhatsApp tool

Arquivos de Neuro-Psiquiatria (Online)

Pires Lucas Vieira LACERDA; Ribeiro Rogério LEMOS; Sousa Adriana Modesto DE; Linnenkamp Bianca Domit WERNER; Pontes Sue ELLEN et al

DOI ISSN 1678-4227

2021 Artigo em periódico

HS Pediatrics; Perinatology and Child Health

Insights from the genetic characterization of central precocious puberty associated with multiple anomalies

HUMAN REPRODUCTION

Canton Ana Pinheiro MACHADO; Krepischi Ana Cristina VICTORINO; Montenegro Luciana RIBEIRO; Costa SILVIA; Rosenberg CARLA et al

DOI ISSN 0268-1161

2020 Artigo em periódico

LS Genetics

Gene expression profile suggesting immunological dysregulation in two Brazilian Bloom's syndrome cases

MOLECULAR GENETICS & GENOMIC MEDICINE

Montenegro Marilia M; Quaio Caio R; Palmeira PATRICIA; Gasparini YANCA; Rangel Santos ANDREIA et al

DOI ISSN 2324-9269

2020 Artigo em periódico

HS Neurology (clinical)

Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation

BMC Medical Genetics

Honjo Rachel SAYURI; Vaca Evelyn Cristina NUÑEZ; Leal Gabriela NUNES; Abellan Deipara MONTEIRO; Ikari Nana MIURA et al

DOI ISSN 1471-2350

2020 Artigo em periódico

HS Genetics (clinical)

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

GENETICS IN MEDICINE

Wagner MATIAS; Lévy JONATHAN; Jung Klawitter SABINE; Bakhtiari SOMAYEH; Monteiro FABIOLA et al

DOI ISSN 1098-3600

2020 Artigo em periódico

LS Developmental Biology

Breakpoint delineation in 5p- patients leads to new insights about microcephaly and the typical high-pitched cry

MOLECULAR GENETICS & GENOMIC MEDICINE

Chehimi Samar N; Zanardo Évelin A; Ceroni José R M; Nascimento Amom M; Madia Fabrícia A R et al

DOI ISSN 2324-9269

2020 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Identifying NAHR mechanism between two distinct Alu elements through breakpoint junction mapping by NGS

META GENE

Novo Filho Gil M; Carvalho Gleyson F S; Nascimento Amom M; Montenegro Marilia M; Damasceno Jullian G et al

DOI ISSN 2214-5400

2020 Artigo em periódico

LS Genetics

Lymphoproliferative disorder with polyautoimmunity and hypogammaglobulinemia: An unusual presentation of 22q11.2 deletion syndrome

CLINICAL IMMUNOLOGY

Soares Diogo C; Dantas Anelisa G; Matta Marina C; Pastorino Antonio C; Melaragno Maria ISABEL et al

DOI ISSN 1521-6616

2020 Artigo em periódico

HS Genetics (clinical)

Phenotype-genotype analysis of 242 individuals with : 18-year experience of a tertiary center in Brazil

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Bertola Débora R; Castro Matheus A A; Yamamoto Guilherme L; Honjo Rachel S; Ceroni José RICARDO et al

DOI ISSN 1552-4868

2020 Artigo em periódico

HS Genetics (clinical)

Efficient detection of copy-number variations using exome data: batch- and sex-based analyses

HUMAN MUTATION

Uchiyama YURI; Yamaguchi DAISUKE; Iwama KAZUHIRO; Miyatake SATOKO; Hamanaka KOHEI et al

DOI ISSN 1059-7794

2020 Artigo em periódico

HS Genetics (clinical)

Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Quaio Caio Robledo D Angioli COSTA; Moreira Caroline MONACO; Novo Filho Gil MONTEIRO; Sacramento Bobotis Patricia ROSSI; Groenner Penna MICHELE et al

DOI ISSN 1552-4868

2020 Artigo em periódico

LS Neuroscience (miscellaneous)

Expanding the role of SETD5</i> haploinsufficiency in neurodevelopment and neuroblastoma

PEDIATRIC BLOOD & CANCER

Pires Sara FERREIRA; Tolezano Giovanna CANTINI; Da Costa Silvia SOUZA; Kawahira Rachel Sayuri HONJO; Chong Ae KIM et al

DOI ISSN 1545-5009

2020 Artigo em periódico

HS Endocrinology; Diabetes and Metabolism

Targeted massively parallel sequencing for congenital generalized lipodystrophy

Archives of Endocrinology Metabolism

Costa Riquetto Aline D; Santana Lucas S; Caetano Lílian A; Lerário Antônio M; Correia Deur Joya E M et al

DOI ISSN 2359-3997