Most cited papers from Chiba Children's Hospital

Chiba Children's Hospital

What are the most cited papers from Chiba Children's Hospital?

The most cited paper from Chiba Children's Hospital is "A Subtype of Diabetes Mellitus Associated with a Mutation of Mitochondrial DNA" (Takashi Kadowaki, Hiroko Kadowaki, Yasumichi Mori et al., 1994), with 559 citations. Next come "Germline gain-of-function mutations in RAF1 cause Noonan syndrome" (506) and "Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement" (350).

Published TypeFieldAccessCitations

Showing 50 of 59 papers. Every paper with more than 86 citations is listed.

Most cited papers, sortable by citations and release date
#	Paper
1	A Subtype of Diabetes Mellitus Associated with a Mutation of Mitochondrial DNA Takashi Kadowaki, Hiroko Kadowaki, Yasumichi Mori et al. · New England Journal of Medicine Open access	7 Apr 1994	559
2	Germline gain-of-function mutations in RAF1 cause Noonan syndrome Abdur M. Razzaque, Tsutomu Nishizawa, Yuta Komoike et al. · Nature Genetics	Jul 2007	506
3	Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement Giovanna Mantovani et al. · Nature Reviews Endocrinology ReviewOpen access	29 Jun 2018	350
4	l -Arginine improves the symptoms of strokelike episodes in MELAS Yasutoshi Koga, Yukihiro Akita, Junko Nishioka et al. · Neurology	22 Feb 2005	313
5	A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies Masakazu Kohda et al. · PLoS Genetics Open access	7 Jan 2016	311
6	The maturation and coordination of sucking, swallowing, and respiration in preterm infants Katsumi Mizuno, Aki Ueda · The Journal of Pediatrics	2003	295
7	Requirement for Etoposide in the Treatment of Epstein-Barr Virus–Associated Hemophagocytic Lymphohistiocytosis Shinsaku Imashuku, Kikuko Kuriyama, Tomoko Teramura et al. · Journal of Clinical Oncology	15 May 2001	288
8	Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease Akira Kinoshita, Takashi Saito, Hiroaki Tomita et al. · Nature Genetics	Sep 2000	253
9	ZNF384 -related fusion genes define a subgroup of childhood B-cell precursor acute lymphoblastic leukemia with a characteristic immunotype Shinsuke Hirabayashi et al. · Haematologica Open access	15 Sep 2016	249
10	Diffusion MRI abnormalities after prolonged febrile seizures with encephalopathy Jun‐ichi Takanashi, Hiroshi Oba, Anthony James Barkovich et al. · Neurology	9 May 2006	245
11	Clinical implementation of RNA sequencing for Mendelian disease diagnostics Vicente A. Yépez et al. · Genome Medicine Open access	4 Apr 2022	219
12	Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect Kayoko Hirayama‐Yamada, Mitsuhiro Kamisago, Kaoru Akimoto et al. · American Journal of Medical Genetics Part A	4 Apr 2005	219
13	JCS 2017 Guideline on Prevention and Treatment of Infective Endocarditis Satoshi Nakatani et al. · Circulation Journal Open access	4 Jul 2019	200
14	Absence of IgD-CD27(+) memory B cell population in X-linked hyper-IgM syndrome. Kazunaga Agematsu, Haruo Nagumo, Koji Shinozaki et al. · Journal of Clinical Investigation Open access	15 Aug 1998	193
15	The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care Brian T. Wilson, Zornitza Stark, Ruth E. Sutton et al. · Genetics in Medicine Open access	23 Jul 2015	178
16	Guidelines for the diagnosis and treatment of acute encephalopathy in childhood Masashi Mizuguchi, Takashi Ichiyama, George Imataka et al. · Brain and Development	20 Aug 2020	176
17	Myelin deficiencies in both the central and the peripheral nervous systems associated with aSOX10 mutation Ken Inoue, Yuzo Tanabe, James R. Lupski · Annals of Neurology	Sep 1999	173
18	Metabolic and chemical regulation of tRNA modification associated with taurine deficiency and human disease Kana Asano, Takeo Suzuki, Ayaka Saito et al. · Nucleic Acids Research Open access	26 Jan 2018	164
19	ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism Radha Desai et al. · Brain Open access	29 Mar 2017	163
20	Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy Robert Kopajtich et al. · The American Journal of Human Genetics Open access	26 Nov 2014	163
21	Plasmapheresis as the sole therapy for rapidly progressive Henoch-Schönlein purpura nephritis in children Motoshi Hattori, Katsumi Ito, Takao Konomoto et al. · American Journal of Kidney Diseases	Mar 1999	157
22	Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness Terumi Murakami, Yukiko K Hayashi, S. Noguchi et al. · Annals of Neurology	10 Oct 2006	154
23	Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3) Satoshi Ishikiriyama, Hidefumi Tonoki, Yoshitaka Shibuya et al. · American Journal of Medical Genetics	Aug 1989	144
24	Outcome of hepatoblastomas treated using the Japanese Study Group for Pediatric Liver Tumor (JPLT) protocol-2: report from the JPLT Tomoro Hishiki, Tadashi Matsunaga, Fumiaki Sasaki et al. · Pediatric Surgery International Open access	4 Oct 2010	143
25	Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: Molecular mechanism and phenotypic manifestations Ken Inoue, Hitoshi Osaka, Kiyoshi Imaizumi et al. · Annals of Neurology	May 1999	132
26	Leigh syndrome: serial MR imaging and clinical follow-up. Junko Arii, Yuzo Tanabe · PubMed Open access	Sep 2000	127
27	Long‐term outcome and intervention of urea cycle disorders in Japan Jun Kido, Kimitoshi Nakamura, Hiroshi Mitsubuchi et al. · Journal of Inherited Metabolic Disease	13 Dec 2011	127
28	Characterization of Crohn disease in X-linked inhibitor of apoptosis–deficient male patients and female symptomatic carriers Claire Aguilar et al. · Journal of Allergy and Clinical Immunology	16 Jun 2014	126
29	Craniotabes in Normal Newborns: The Earliest Sign of Subclinical Vitamin D Deficiency Junko Yorifuji, Tohru Yorifuji, Kenji Tachibana et al. · The Journal of Clinical Endocrinology & Metabolism	13 Feb 2008	124
30	Sex-Determining Gene(s) on Distal 9p: Clinical and Molecular Studies in Six Cases* Koji Muroya, Torayuki Okuyama, Keiji Goishi et al. · The Journal of Clinical Endocrinology & Metabolism	Sep 2000	121
31	Identification of Severe Combined Immunodeficiency by T-Cell Receptor Excision Circles Quantification Using Neonatal Guthrie Cards Yoichi Morinishi et al. · The Journal of Pediatrics	23 Jul 2009	121
32	Deficiency of ECHS 1 causes mitochondrial encephalopathy with cardiac involvement Tobias B. Haack et al. · Annals of Clinical and Translational Neurology Open access	13 Mar 2015	121
33	Assessment criteria for vitamin D deficiency/insufficiency in Japan: proposal by an expert panel supported by the Research Program of Intractable Diseases, Ministry of Health, Labour and Welfare, Japan, the Japanese Society for Bone and Mineral Research and the Japan Endocrine Society [Opinion] Ryo Okazaki, Keiichi Ozono, Seiji Fukumoto et al. · Journal of Bone and Mineral Metabolism	23 Nov 2016	118
34	Verotoxins induce apoptosis in human renal tubular epithelium derived cells Tomoko Taguchi, Hiroshi Uchida, Nobutaka Kiyokawa et al. · Kidney International Open access	Jun 1998	115
35	Role of Wnt pathway in medulloblastoma oncogenesis Naoki Yokota, Shigeru Nishizawa, Seiji Ohta et al. · International Journal of Cancer Open access	26 Jul 2002	111
36	COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency Gloria Brea‐Calvo et al. · The American Journal of Human Genetics Open access	Feb 2015	110
37	Neonatal feeding performance as a predictor of neurodevelopmental outcome at 18 months Katsumi Mizuno, Aki Ueda · Developmental Medicine & Child Neurology	14 Apr 2005	109
38	Changes in Sucking Performance from Nonnutritive Sucking to Nutritive Sucking during Breast- and Bottle-Feeding Katsumi Mizuno, Aki Ueda · Pediatric Research	20 Apr 2006	109
39	Ludloff's medial approach for open reduction of congenital dislocation of the hip Wataru Koizumi, Hideshige Moriya, K. Tsuchiya et al. · Journal of Bone and Joint Surgery - British Volume Open access	Nov 1996	103
40	Mutations in TOP3A Cause a Bloom Syndrome-like Disorder Carol-Anne Martin et al. · The American Journal of Human Genetics Open access	26 Jul 2018	102
41	Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy Robert Kopajtich et al. · The American Journal of Human Genetics Open access	16 Jul 2016	102
42	Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients Erika Ogawa, Masaru Shimura, Takuya Fushimi et al. · Journal of Inherited Metabolic Disease Open access	20 Apr 2017	100
43	Treatment of Congenital Pseudarthrosis of the Tibia Isao Ohnishi, Wakyo Sato, Juntarou Matsuyama et al. · Journal of Pediatric Orthopaedics	16 Feb 2005	99
44	Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis Hiroki Maruyama et al. · Genetics in Medicine Open access	15 Mar 2018	96
45	A follow up study of myocardial involvement in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) Yuko Okajima, Yumi N. Tanabe, Masaki Takayanagi et al. · Heart Open access	Sep 1998	96
46	Clinical and Genetic Characteristics of XIAP Deficiency in Japan Xi Yang, Hirokazu Kanegane, Naonori Nishida et al. · Journal of Clinical Immunology	7 Jan 2012	96
47	Extracorporeal shock wave therapy improves motor dysfunction and pain originating from knee osteoarthritis in rats Nobuyasu Ochiai, Seiji Ohtori, Takahisa Sasho et al. · Osteoarthritis and Cartilage Open access	27 Apr 2007	96
48	Vascular endothelial growth factor in acute Kawasaki disease Masaru Terai, Kumi Yasukawa, Soichi Narumoto et al. · The American Journal of Cardiology	Feb 1999	95
49	Treatment for developmental dysplasia of the hip using the Pavlik harness Junichi Nakamura, Makoto Kamegaya, Takashi Saisu et al. · Journal of Bone and Joint Surgery - British Volume	Feb 2007	94
50	Methyl CpG-Binding Protein 2 (a Mutation of Which Causes Rett Syndrome) Directly Regulates Insulin-Like Growth Factor Binding Protein 3 in Mouse and Human Brains Masayuki Itoh, Shuhei Ide, Sachio Takashima et al. · Journal of Neuropathology & Experimental Neurology	Feb 2007	94

Citations are OpenAlex's own counts, from its 2026-09-23 snapshot, so the ranking can differ from Google Scholar or Web of Science. A paper is listed for an institution when any of its authors gave it as an affiliation; retracted papers and papers whose citation count cannot be traced to citing works are left out, and a preprint and the article it became are shown once. Release dates are OpenAlex's: where a source gave only a month or a year, that is what is shown. How the lists are chosen.