Most cited papers from Hôpital Debrousse

Hôpital Debrousse

What are the most cited papers from Hôpital Debrousse?

The most cited paper from Hôpital Debrousse is "Outcome of Cord-Blood Transplantation from Related and Unrelated Donors" (Éliane Gluckman, Vanderson Rocha, Agnès Boyer-Chammard et al., 1997), with 1,266 citations. Next come "The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome" (991) and "Artemis, a Novel DNA Double-Strand Break Repair/V(D)J Recombination Protein, Is Mutated in Human Severe Combined Immune Deficiency" (913).

Published TypeFieldAccessAuthorsCitations

Showing 50 of 60 papers. Every paper with more than 195 citations is listed.

Most cited papers, sortable by citations and release date
#	Paper
1	Outcome of Cord-Blood Transplantation from Related and Unrelated Donors Éliane Gluckman, Vanderson Rocha, Agnès Boyer-Chammard et al. · New England Journal of Medicine Open access	7 Aug 1997	1,266
2	The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome Laura Crisponi et al. · Nature Genetics	Feb 2001	991
3	Artemis, a Novel DNA Double-Strand Break Repair/V(D)J Recombination Protein, Is Mutated in Human Severe Combined Immune Deficiency Despina Moshous, Isabelle Callebaut, Régina de Chasseval et al. · Cell Open access	Apr 2001	913
4	EIF2AK3, encoding translation initiation factor 2-α kinase 3, is mutated in patients with Wolcott-Rallison syndrome Marc Délepine, Marc P Nicolino, Timothy Geoffrey Barrett et al. · Nature Genetics	Aug 2000	830
5	Comparison of outcomes of unrelated bone marrow and umbilical cord blood transplants in children with acute leukemia Vanderson Rocha · Blood Open access	15 May 2001	768
6	Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection Yanick Joseph Crow et al. · Nature Genetics	16 Jul 2006	683
7	Pompe disease diagnosis and management guideline Priya Sunil Kishnani et al. · Genetics in Medicine Open access	May 2006	643
8	Leydig Cells: Endocrine, Paracrine, and Autocrine Regulation J.M. Saez · Endocrine Reviews	Oct 1994	637
9	A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease Priya Sunil Kishnani, Wuh‐Liang Hwu, Hanna Mandel et al. · The Journal of Pediatrics	May 2006	599
10	Long-term results of related myeloablative stem-cell transplantation to cure sickle cell disease Françoise Bernaudin et al. · Blood Open access	3 Jul 2007	512
11	Sperm DNA fragmentation decreases the pregnancy rate in an assisted reproductive technique M Benchaib · Human Reproduction	29 Apr 2003	467
12	Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2 Louise Metherell, J. Paul Chapple, Sadani N. Cooray et al. · Nature Genetics	16 Jan 2005	453
13	Hypophyso-Gonadal Function in Humans during the First Year of Life Maguelone G. Forest, Pierre C. Sizonenko, Anne Marie Cathiard et al. · Journal of Clinical Investigation Open access	Mar 1974	435
14	Clinical and biologic features of CD4+CD56+ malignancies Jean Feuillard · Blood Open access	Mar 2002	427
15	Worldwide Experience in Newborn Screening for Classical Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Songya Pang, M A Wallace, Lindsay F. Hofman et al. · The Journal of Urology	Dec 1988	398
16	The adult form of Niemann-Pick disease type C Mathieu Sevin, Gaëtan Lesca, Nicole Baumann et al. · Brain	26 Sep 2006	391
17	Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism Valérie Senée, Claude Chelala, Sabine Duchatelet et al. · Nature Genetics	21 May 2006	382
18	A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency Gilles Courtois, Asma Smahi, Janine Reichenbach et al. · Journal of Clinical Investigation Open access	Oct 2003	379
19	Autoimmunity in Wiskott-Aldrich Syndrome: Risk Factors, Clinical Features, and Outcome in a Single-Center Cohort of 55 Patients Sophie Dupuis‐Girod, Jacques Médioni, Élie Haddad et al. · PEDIATRICS	May 2003	364
20	Recognition and management of fatty acid oxidation defects: A series of 107 patients Jean‐Marie Saudubray, Delphine Martin, Pascale de Lonlay et al. · Journal of Inherited Metabolic Disease	Jun 1999	339
21	Infusion of Fcγ fragments for treatment of children with acute immune thrombocytopenic purpura Marianne Debré, C Griscelli, M-C Bonnet et al. · The Lancet	Oct 1993	332
22	EVIDENCE OF TESTICULAR ACTIVITY IN EARLY INFANCY Maguelone G. Forest, Anne Marie Cathiard, J Bertrand · The Journal of Clinical Endocrinology & Metabolism	Jul 1973	330
23	Mutant WD-repeat protein in triple-A syndrome Anna Tullio-Pelet, Rémi Salomon, Smail Hadj-Rabia et al. · Nature Genetics	Nov 2000	324
24	Incidence of diabetes mellitus and impaired glucose tolerance in children and adolescents receiving growth-hormone treatment Wayne S. Cutfield, Patrick Wilton, Helge Bennmarker et al. · The Lancet	Feb 2000	322
25	Cryopreservation Induces an Apoptosis-Like Mechanism in Bull Sperm Guillaume Martin, Odile Sabido, Philippe Durand et al. · Biology of Reproduction	Jul 2004	317
26	Clear Correlation of Genotype with Disease Phenotype in Very–Long-Chain Acyl-CoA Dehydrogenase Deficiency Brage Storstein Andresen, Simon Edward Olpin, Ben J. H. M. Poorthuis et al. · The American Journal of Human Genetics Open access	Feb 1999	305
27	Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis Olivier Gribouval, Marie Gonzalès, Thomas Jacob Neuhaus et al. · Nature Genetics	14 Aug 2005	298
28	Specific Real-Time Polymerase Chain Reaction Places Kingella kingae as the Most Common Cause of Osteoarticular Infections in Young Children Sylvia Chometon, Yvonne Benito, Mourad Chaker et al. · The Pediatric Infectious Disease Journal	23 Apr 2007	298
29	Origin, differentiation and regulation of fetal and adult Leydig cells René Habert, Hervé Lejeune, J.M. Saez · Molecular and Cellular Endocrinology	Jun 2001	296
30	Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease Marc P Nicolino et al. · Genetics in Medicine Open access	Mar 2009	294
31	Chinese hamster ovary cell-derived recombinant human acid α-glucosidase in infantile-onset Pompe disease Priya Sunil Kishnani, Marc P Nicolino, Thomas Voït et al. · The Journal of Pediatrics Open access	Jul 2006	286
32	Large Genomic Rearrangements in the Hepatocyte Nuclear Factor-1β (TCF2) Gene Are the Most Frequent Cause of Maturity-Onset Diabetes of the Young Type 5 Christine Bellanné‐Chantelot, Séverine Clauin, Dominique Chauveau et al. · Diabetes Open access	Nov 2005	278
33	Derivation and Validation of a Mathematical Model for Predicting the Response to Exogenous Recombinant Human Growth Hormone (GH) in Prepubertal Children with Idiopathic GH Deficiency Michael B. Ranke, Anders Lindberg, Pierre Chatelain et al. · The Journal of Clinical Endocrinology & Metabolism	Apr 1999	277
34	ESI‐MS/MS analysis of underivatised amino acids: a new tool for the diagnosis of inherited disorders of amino acid metabolism. Fragmentation study of 79 molecules of biological interest in positive and negative ionisation mode Monique Piraud, Christine Vianey‐Saban, Konstantinos Pétritis et al. · Rapid Communications in Mass Spectrometry	14 May 2003	273
35	Allogeneic bone marrow transplantation for lysosomal storage diseases Peter M. Hoogerbrugge, Oebele F. Brouwer, Pierre Bordigoni et al. · The Lancet Open access	Jun 1995	260
36	Prenatal treatment of congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency Michel David, Maguelone G. Forest · The Journal of Pediatrics	Nov 1984	258
37	Receptors for anti-Müllerian hormone on Leydig cells are responsible for its effects on steroidogenesis and cell differentiation Chrystèle Racine, Rodolfo Alberto Rey, Maguelone G. Forest et al. · Proceedings of the National Academy of Sciences Open access	20 Jan 1998	257
38	Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France Mireille Claustres et al. · Human Mutation Open access	2000	251
39	Human Mesenchymal Stem Cells License Adult CD34+ Hemopoietic Progenitor Cells to Differentiate into Regulatory Dendritic Cells through Activation of the Notch Pathway Yin-Ping Li, Sophie Paczesny, Evelyne Lauret et al. · The Journal of Immunology	Feb 2008	249
40	Ultrasound diagnosis of midgut volvulus: the “whirlpool” sign Jean Pierre Pracros, Léon Sann, Gilles Genin et al. · Pediatric Radiology	Apr 1992	247
41	Multicenter Prospective Study of Children With Sickle Cell Disease: Radiographic and Psychometric Correlation Françoise Bernaudin et al. · Journal of Child Neurology	May 2000	247
42	Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A) Karine Poirier et al. · Human Mutation Open access	21 Jun 2007	241
43	Congenital adrenal hyperplasia due to point mutations in the type II 3β–hydroxysteroid dehydrogenase gene Éric Rhéaume, Jacques Simard, Yves Morel et al. · Nature Genetics	Jul 1992	238
44	Hormonal and cellular regulation of Sertoli cell anti-Müllerian hormone production in the postnatal mouse. Luma Al-Attar, K Noël, Martin Dutertre et al. · Journal of Clinical Investigation Open access	15 Sep 1997	235
45	Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease Tania Attié‐Bitach, Marianne Till, Anna Pelet et al. · Human Molecular Genetics	1995	226
46	Shifts in interleukin-4 and interferon-γ production by T cells of patients with elevated serum IgE levels and the modulatory effects of these lymphokines on spontaneous IgE synthesis F Rousset, Jacques Robert, Monique Andary et al. · Journal of Allergy and Clinical Immunology Open access	1991	224
47	Epidemiology of aneurysmal bone cyst in children: a multicenter study and literature review J. Cottalorda, Rémi Kohler, Jérôme Sales de Gauzy et al. · Journal of Pediatric Orthopaedics B	Nov 2004	221
48	NTBC treatment in tyrosinaemia type I: Long‐term outcome in French patients Alice Masurel‐Paulet, Joséphine Poggi-Bach, M. O. Rolland et al. · Journal of Inherited Metabolic Disease	23 Jan 2008	216
49	Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake Charles A. Stanley, Susan Deleeuw, Paul M. Coates et al. · Annals of Neurology	Nov 1991	214
50	Pattern of Plasma Dehydroepiandrosterone Sulfate Levels in Humans from Birth to Adulthood: Evidence for Testicular Production* EVELINE DE PERETTI, Maguelone G. Forest · The Journal of Clinical Endocrinology & Metabolism	Sep 1978	213

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.