Most cited papers from Hôpital d'Enfants

Hôpital d'Enfants

What are the most cited papers from Hôpital d'Enfants?

The most cited paper from Hôpital d'Enfants is "Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers" (Karoline B. Kuchenbaecker et al., 2017), with 2,963 citations. Next come "A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction" (2,380) and "Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism" (1,202).

Published TypeFieldAccessAuthorsCitations

Showing 50 of 60 papers. Every paper with more than 256 citations is listed.

Most cited papers, sortable by citations and release date
#	Paper
1	Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers Karoline B. Kuchenbaecker et al. · JAMA Open access	20 Jun 2017	2,963
2	A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction Karine Clément, Christian Vaisse, Najiba Lahlou et al. · Nature	Mar 1998	2,380
3	Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism Jian Q. Feng, Leanne Marie Ward, Shiguang Liu et al. · Nature Genetics Open access	8 Oct 2006	1,202
4	Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia Han‐Xiang Deng et al. · Nature Open access	19 Aug 2011	1,188
5	The EFSUMB Guidelines and Recommendations on the Clinical Practice of Contrast Enhanced Ultrasound (CEUS): Update 2011 on non-hepatic applications Fabio Piscaglia et al. · Ultraschall in der Medizin - European Journal of Ultrasound Open access	26 Aug 2011	1,085
6	Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes Shinji Kondo et al. · Nature Genetics Open access	3 Sep 2002	910
7	The complete European guidelines on phenylketonuria: diagnosis and treatment Annemiek M. J. van Wegberg, Anita MacDonald, Kirsten Ahring et al. · Orphanet Journal of Rare Diseases Open access	12 Oct 2017	854
8	Detection of Transposition of the Great Arteries in Fetuses Reduces Neonatal Morbidity and Mortality Damien Bonnet, Anna Coltri, Gianfranco Butera et al. · Circulation Open access	23 Feb 1999	773
9	The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations Catherine L. Bladen et al. · Human Mutation Open access	21 Jan 2015	760
10	Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes Brendan Lee, Maurice Godfrey, Emilia Vitale et al. · Nature	Jul 1991	676
11	Metronomic chemotherapy: new rationale for new directions Eddy Pasquier, Maria Kavallaris, Nicolás André · Nature Reviews Clinical Oncology Review	8 Jun 2010	663
12	Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement Frédéric Brioude et al. · Nature Reviews Endocrinology ReviewOpen access	29 Jan 2018	617
13	PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome Deborah J. Marsh et al. · Human Molecular Genetics	Aug 1999	617
14	Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling Gillian Rice et al. · Nature Genetics Open access	30 Mar 2014	601
15	Homozygous Defects in LMNA, Encoding Lamin A/C Nuclear-Envelope Proteins, Cause Autosomal Recessive Axonal Neuropathy in Human (Charcot-Marie-Tooth Disorder Type 2) and Mouse Annachiara De Sandre‐Giovannoli, Malika Chaouch, Serguei V. Kozlov et al. · The American Journal of Human Genetics Open access	Mar 2002	564
16	Diagnosis and management of Silver–Russell syndrome: first international consensus statement Emma L. Wakeling et al. · Nature Reviews Endocrinology ReviewOpen access	2 Sep 2016	521
17	Perioperative anaesthetic morbidity in children: a database of 24 165 anaesthetics over a 30‐month period Isabelle Murat, Isabelle Constant, Hélène Maud'huy · Pediatric Anesthesia	Feb 2004	496
18	Cloning and Primary Sequence of a Mouse Candidate Prohormone Convertase PC1 Homologous to PC2, Furin, and Kex2: Distinct Chromosomal Localization and Messenger RNA Distribution in Brain and Pituitary Compared to PC2 Nabil Georges Seidah, M. Marcinkiewicz, Suzanne Benjannet et al. · Molecular Endocrinology Open access	1991	480
19	Detection of Hepatitis B Virus DNA in Serum by a Simple Spot Hybridization Technique: Comparison with Results for Other Viral Markers Jacques M. Scotto, Michelle Hadchouel, Christiane Héry et al. · Hepatology	May 1983	474
20	High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies Fadi F. Hamdan et al. · The American Journal of Human Genetics Open access106 authors	Nov 2017	466
21	Founder and Recurrent CDH1 Mutations in Families With Hereditary Diffuse Gastric Cancer Pardeep Kaurah et al. · JAMA	4 Jun 2007	454
22	Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations Nicole Revençu et al. · Human Mutation Open access	2008	437
23	Key European guidelines for the diagnosis and management of patients with phenylketonuria Francjan J. van Spronsen, Annemiek M. J. van Wegberg, Kirsten Ahring et al. · The Lancet Diabetes & Endocrinology Open access	10 Jan 2017	435
24	Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder Willemijn G. Leen et al. · Brain Open access	2 Feb 2010	422
25	Effect of 17q21 Variants and Smoking Exposure in Early-Onset Asthma Emmanuelle Bouzigon, Eve Corda, Hugues Aschard et al. · New England Journal of Medicine Open access	16 Oct 2008	407
26	Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q Judith Melki et al. · Nature	Apr 1990	405
27	Hematopoietic stem cell transplantation in thalassemia major and sickle cell disease: indications and management recommendations from an international expert panel Emanuele Angelucci et al. · Haematologica Open access	30 Apr 2014	396
28	Factors associated with outcomes of unrelated cord blood transplant: Guidelines for donor choice Éliane Gluckman et al. · Experimental Hematology Open access	30 Mar 2004	395
29	Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes Mireille Coss�e et al. · Annals of Neurology	Feb 1999	387
30	Mutation spectrum and splicing variants in the OPA1 gene Cécile Delettre, Jean‐Michel Griffoin, Josseline Kaplan et al. · Human Genetics	30 Oct 2001	386
31	Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux Cynthia F. Bartels et al. · The American Journal of Human Genetics Open access	2 Jun 2004	372
32	Rapidly Involuting Congenital Hemangioma: Clinical and Histopathologic Features Beatriz Berenguer, John Butler Mulliken, Odile Enjolras et al. · Pediatric and Developmental Pathology	Nov 2003	363
33	Germline Mutations of the Paired–Like Homeobox 2B (PHOX2B) Gene in Neuroblastoma Delphine Trochet, Franck Bourdeaut, Isabelle Janoueix‐Lerosey et al. · The American Journal of Human Genetics Open access	17 Mar 2004	362
34	Lamotrigine for Generalized Seizures Associated with the Lennox–Gastaut Syndrome J.‐F. Motte, Edwin Trevathan, Jan Arvidsson et al. · New England Journal of Medicine Open access	18 Dec 1997	361
35	The 11q terminal deletion disorder: A prospective study of 110 cases Paul Grossfeld, Teresa Mattina, Zona C. Lai et al. · American Journal of Medical Genetics Part A	11 Jun 2004	346
36	DETECTION OF HEPATITIS B VIRUS DNA IN LIVER AND SERUM: A DIRECT APPRAISAL OF THE CHRONIC CARRIER STATE Christian Bréchot, Jacques M. Scotto, Patrick Charnay et al. · The Lancet	Oct 1981	337
37	Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia Cornelius F. Boerkoel et al. · Nature Genetics	22 Jan 2002	334
38	Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study Harvey L. Levy, Andrzej Milanowski, Anupam Chakrapani et al. · The Lancet	Aug 2007	319
39	Incidence of Autoimmune Diseases in Celiac Disease: Protective Effect of the Gluten-Free Diet Jacques Cosnes, Christophe Cellier, Sheila Viola et al. · Clinical Gastroenterology and Hepatology	8 Feb 2008	314
40	DNA probe localization at 18p113 band by in situ hybridization and identification of a small supernumerary chromosome Marie‐Geneviève Mattéi, Neena Elezebeth Philip, E. Passage et al. · Human Genetics	Mar 1985	313
41	Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans Loïc de Pontual, Evelyn S. Yao, Patrick Callier et al. · Nature Genetics Open access	4 Sep 2011	309
42	Use and Abuse of Flexible Intramedullary Nailing in Children and Adolescents Pierre Lascombes, Thierry Haumont, Pierre Journeau · Journal of Pediatric Orthopaedics	Nov 2006	309
43	SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype–phenotype correlations Stéphanie Millecamps et al. · Journal of Medical Genetics Open access	24 Jun 2010	308
44	Connexin 26 gene linked to a dominant deafness Françoise Denoyelle, Geneviève Lina‐Granade, Henri Plauchu et al. · Nature	May 1998	304
45	Randomized, placebo-controlled, crossover trial of low-dose oral methotrexate in children with extended oligoarticular or systemic arthritis Patricia M. Woo, T. R. E. Southwood, A. M. Prieur et al. · Arthritis & Rheumatism	Aug 2000	300
46	Clinical Features of Anti-Factor H Autoantibody–Associated Hemolytic Uremic Syndrome Marie‐Agnès Dragon‐Durey, Sidharth Kumar Sethi, Arvind Bagga et al. · Journal of the American Society of Nephrology Open access	4 Nov 2010	298
47	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
48	COVID-19 outcomes in patients with inflammatory rheumatic and musculoskeletal diseases treated with rituximab: a cohort study Jérôme Avouac et al. · The Lancet Rheumatology Open access466 authors	25 Mar 2021	292
49	Regional expression of the homeobox gene Nkx-2.2 in the developing mammalian forebrain Melanie Price, Domenico Lazzaro, Thomas Pohl et al. · Neuron Open access	Feb 1992	290
50	Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing Claire E. Redin et al. · Journal of Medical Genetics Open access	28 Aug 2014	277

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.