H. Cavé

H. Cavé, A. Ziegler, N. Loundon, 2017, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

Acute lymphoblastic leukemia in the context of RASopathies.

H. Cavé, A. Verloes, C. Kratz, 2016, European journal of medical genetics.

Molecular and clinical characterization of cardio‐facio‐cutaneous (CFC) syndrome: Overlapping clinical manifestations with Costello syndrome

R. Hennekam, H. Cavé, D. Wieczorek, 2007, American journal of medical genetics. Part A.

Cardio‐facio‐cutaneous syndrome: Does genotype predict phenotype?

J. Allanson, H. Cavé, K. Gripp, 2011, American journal of medical genetics. Part C, Seminars in medical genetics.

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

M. Loh, A. Carè, H. Cavé, 2014, Human molecular genetics.

Predisposition to cancer in children and adolescents.

S. Behjati, H. Cavé, L. Guerrini-Rousseau, 2021, The Lancet. Child & adolescent health.

Clinical value of pre‐transplant minimal residual disease in childhood lymphoblastic leukaemia: the results of the French minimal residual disease‐guided protocol

J. Cayuela, E. Macintyre, H. Cavé, 2014, British journal of haematology.

Flow cytometry and IG/TCR quantitative PCR for minimal residual disease quantitation in acute lymphoblastic leukemia: a French multicenter prospective study on behalf of the FRALLE, EORTC and GRAALL

E. Clappier, H. Dombret, A. Baruchel, 2013, Leukemia.

Analysis of minimal residual disease by Ig/TCR gene rearrangements: guidelines for interpretation of real-time quantitative PCR data

J. Cayuela, C. V. D. Schoot, H. Cavé, 2007, Leukemia.

Delineation of a 6 cM commonly deleted region in childhood acute lymphoblastic leukemia on the 6q chromosomal arm

H. Cavé, B. Gérard, B. Grandchamp, 1997, Leukemia.

An assessment of pancreatic endocrine function and insulin sensitivity in patients with transient neonatal diabetes in remission

M. Polak, H. Cavé, I. Temple, 2004, Archives of Disease in Childhood - Fetal and Neonatal Edition.

IKZF1 status as a prognostic feature in BCR-ABL1-positive childhood ALL.

M. D. Den Boer, R. Pieters, M. Schrappe, 2014, Blood.

Deletion of chromosomal region 13q14.3 in childhood acute lymphoblastic leukemia

H. Cavé, B. Grandchamp, F. Méchinaud, 2001, Leukemia.

Genome-edited, donor-derived allogeneic anti-CD19 chimeric antigen receptor T cells in paediatric and adult B-cell acute lymphoblastic leukaemia: results of two phase 1 studies

Matthew J. Frigault, G. Lucchini, Jackie Chappell, 2020, The Lancet.

Quantification of TEL–AML1 transcript for minimal residual disease assessment in childhood acute lymphoblastic leukaemia

I. Bièche, H. Cavé, B. Grandchamp, 2001, British journal of haematology.

[Infant acute leukemia].

A. Baruchel, H. Cavé, B. Brethon, 2016, Bulletin du cancer.

Genotype and phenotype spectrum of NRAS germline variants

H. Cavé, M. Ahmadian, M. Tartaglia, 2017, European Journal of Human Genetics.

RAS-associated lymphoproliferative disease evolves into severe juvenile myelo-monocytic leukemia.

F. Rieux-Laucat, A. Fischer, H. Cavé, 2014, Blood.

Inflammatory response in hematopoietic stem and progenitor cells triggered by activating SHP2 mutations evokes blood defects.

H. Cavé, J. den Hertog, D. Langenau, 2022, eLife.

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome.

H. Cavé, M. Ahmadian, M. Tartaglia, 2019, American journal of human genetics.

Mutations in the PTPN11 Gene The Spectrum of Cardiac Anomalies in Noonan Syndrome as a Result of

H. Cavé, A. Verloes, C. Baumann, 2013 .

SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions

A. Munnich, H. Cavé, A. Verloes, 2009, European Journal of Human Genetics.

The Spectrum of Cardiac Anomalies in Noonan Syndrome as a Result of Mutations in the PTPN11 Gene

H. Cavé, A. Verloes, C. Baumann, 2007, Pediatrics.

Localization of the CDKN4/p27Kip1 gene to human chromosome 12p12.3

D. Paslier, H. Cavé, B. Grandchamp, 1995, Human Genetics.

Loss of heterozygosity in the chromosomal region 12p12-13 is very common in childhood acute lymphoblastic leukemia and permits the precise localization of a tumor-suppressor gene distinct from p27KIP1.

J. Weissenbach, H. Cavé, B. Gérard, 1995, Blood.

Prolonged versus standard native E. coli asparaginase therapy in childhood acute lymphoblastic leukemia and non-Hodgkin lymphoma: final results of the EORTC-CLG randomized phase III trial 58951

H. Cavé, P. Rohrlich, Y. Bertrand, 2017, Haematologica.

Down syndrome-like acute megakaryoblastic leukemia in a patient with Cornelia de Lange syndrome

A. Baruchel, H. Cavé, A. Verloes, 2017, Haematologica.

Novel Diagnostic and Therapeutic Options for KMT2A-Rearranged Acute Leukemias

H. Cavé, R. Marschalek, C. Meyer, 2022, Frontiers in Pharmacology.

Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients

H. Cavé, P. Rohrlich, E. W. Van Den Neste, 2018, Haematologica.

The EORTC Children's Leukemia Group: Preclinical and clinical research and resulting achievements

H. Cavé, Y. Bertrand, P. Rohrlich, 2012 .

Germline mutations of the INK4a-ARF gene in patients with suspected genetic predisposition to melanoma

H. Cavé, C. Lebbé, N. Basset-Seguin, 2004, British Journal of Cancer.

Oligo-astrocytoma in LZTR1-related Noonan syndrome.

B. Sadzot, L. Servais, H. Cavé, 2019, European journal of medical genetics.

Treatment of childhood T-cell lymphoblastic lymphoma according to the strategy for acute lymphoblastic leukaemia, without radiotherapy: long term results of the EORTC CLG 58881 trial.

H. Cavé, Y. Bertrand, A. Uyttebroeck, 2008, European journal of cancer.

Overexpression of CEBPA resulting from the translocation t(14;19)(q32;q13) of human precursor B acute lymphoblastic leukemia.

H. Cavé, R. Berger, O. Bernard, 2006, Blood.

Conversion of HIV-1 viral markers during the first few months of life in HIV-infected children born to seropositive mothers.

E. Denamur, H. Cavé, P. Rohrlich, 1993, AIDS.

Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases

W. Reardon, R. Hennekam, H. Cavé, 2005, Journal of Medical Genetics.

IKZF1 deletion is an independent prognostic marker in childhood B-cell precursor acute lymphoblastic leukemia, and distinguishes patients benefiting from pulses during maintenance therapy: results of the EORTC Children's Leukemia Group study 58951

E. Clappier, H. Cavé, P. Kastner, 2015, Leukemia.

Activating mutation in the TSLPR gene in B-cell precursor lymphoblastic leukemia

H. Cavé, O. Bernard, É. Lainey, 2010, Leukemia.

CircRNAs Dysregulated in Juvenile Myelomonocytic Leukemia: CircMCTP1 Stands Out

S. Bortoluzzi, J. Philippé, H. Cavé, 2021, Frontiers in Cell and Developmental Biology.

The immune checkpoint ICOSLG is a relapse-predicting biomarker and therapeutic target in infant t(4;11) acute lymphoblastic leukemia

H. Cavé, C. Eckert, M. Valsecchi, 2022, iScience.

Ikaros deficiency is associated with aggressive BCR-ABL1 B-cell precursor acute lymphoblastic leukemia independent of the lineage and developmental origin

E. Clappier, H. Cavé, P. Kastner, 2021, Haematologica.

Criteria for evaluating response and outcome in clinical trials for children with juvenile myelomonocytic leukemia

M. Loh, A. Baruchel, H. Cavé, 2015, Haematologica.

[Permanent neonatal diabetes and recessive mutation in the INS gene: a familial history].

H. Cavé, J. Stéphan, O. Richard, 2013, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Long-term malignant hematopoiesis in human acute leukemia bone marrow biopsies implanted in severe combined immunodeficiency mice.

H. Cavé, P. Rohrlich, M. Peuchmaur, 1997, Blood.

Acute lymphoblastic leukemia in children with Down syndrome: a retrospective analysis from the Ponte di Legno study group.

C. Pui, R. Pieters, N. Heerema, 2014, Blood.

1 Disruption of a Novel KLF-p 300-Regulated Pathway for Insulin Biosynthesis Revealed by Studies of the c .331 INS Mutation Found in Neonatal Diabetes Mellitus

U. Hodoğlugil, R. Scharfmann, P. Froguel, 2011 .

Neonatal diabetes due to potassium channel mutation: response to sulfonylurea according to the genotype.

M. Polak, H. Cavé, V. Mericq, 2020, Pediatric diabetes.

Successful off‐label sulfonylurea treatment of neonatal diabetes mellitus due to chromosome 6 abnormalities

M. Polak, H. Cavé, K. Busiah, 2018, Pediatric diabetes.

Mutations of PTPN11 are rare in adult myeloid malignancies.

H. Cavé, C. Preudhomme, P. Fenaux, 2005, Haematologica.

Empreinte génomique parentaleet maladie endocrinienne Diabète néonatal : maladie de l ’ empreinte génétique , mais pas seulement ! Neonatal diabetes : a genomic imprinting disease but not only !

M. Polak, H. Cavé, K. Busiah, 2006 .

Despite mutation acquisition in hematopoietic stem cells, JMML-propagating cells are not always restricted to this compartment

A. Baruchel, A. Abarrategi, H. Cavé, 2019, Leukemia.

LIN28B overexpression defines a novel fetal-like subgroup of juvenile myelomonocytic leukemia.

F. Speleman, J. Philippé, H. Cavé, 2016, Blood.

LIN 28 B overexpression de fi nes a novel fetal-like subgroup of juvenile myelomonocytic leukemia

F. Speleman, J. Philippé, H. Cavé, 2016 .

Genetic typing of CBL, ASXL1, RUNX1, TET2 and JAK2 in juvenile myelomonocytic leukaemia reveals a genetic profile distinct from chronic myelomonocytic leukaemia

A. Baruchel, H. Cavé, C. Preudhomme, 2010, British journal of haematology.

Mitchell–Riley Syndrome: Improving Clinical Outcomes and Searching for Functional Impact of RFX-6 Mutations

R. Scharfmann, M. Polak, H. Cavé, 2022, Frontiers in Endocrinology.

Noonan syndrome males display Sertoli cell-specific primary testicular insufficiency.

H. Cavé, A. Verloes, J. Salles, 2018, European journal of endocrinology.

Fluorometric detection of HIV-1 genome through use of an internal control, inosine-substituted primers, and microtiter plate format.

H. Cavé, B. Gérard, B. Grandchamp, 1996, Clinical chemistry.

Identification of a clone of Escherichia coli O103:H2 as a potential agent of hemolytic-uremic syndrome in France

H. Cavé, P. Sansonetti, A. Milon, 1993, Journal of clinical microbiology.

Identification of a clone of Escherichia coli O103:H2 as potential agent of hemolytic-uremic syndrome in France

H. Cavé, P. Sansonetti, A. Milon, 1994, Journal of Clinical Microbiology.

Direct detection of verotoxin genes in stool samples by polymerase chain reaction in hemolytic uremic syndrome patients in France.

H. Cavé, J. Elion, E. Bingen, 1997, Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases.

Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome

H. Cavé, H. Kayserili, M. Tartaglia, 2022, Human molecular genetics.

CDKN2A, CDKN2B, and MTAP gene dosage permits precise characterization of mono‐ and bi‐allelic 9p21 deletions in childhood acute lymphoblastic leukemia

H. Cavé, E. Vilmer, C. Acquaviva, 2003, Genes, chromosomes & cancer.

Standardization and quality control studies of ‘real-time’ quantitative reverse transcriptase polymerase chain reaction of fusion gene transcripts for residual disease detection in leukemia – A Europe Against Cancer Program

H. Cavé, J. Dongen, J. Aerts, 2003, Leukemia.

Standardisation and consensus guidelines for minimal residual disease assessment in Philadelphia-positive acute lymphoblastic leukemia (Ph + ALL) by real-time quantitative reverse transcriptase PCR of e1a2 BCR-ABL1

J. Cayuela, V. V. D. van der Velden, T. Lion, 2019, Leukemia.

CD200/BTLA deletions in pediatric precursor B-cell acute lymphoblastic leukemia treated according to the EORTC-CLG 58951 protocol

F. Speleman, E. Clappier, J. Philippé, 2015, Haematologica.

Pediatric randomized trial EORTC CLG 58951: Outcome for adolescent population with acute lymphoblastic leukemia

H. Cavé, P. Rohrlich, Y. Bertrand, 2020, Hematological oncology.

Relevant subtypes in childhood ALL

H. Cavé, Chloé Arfeuille, C. Arfeuille, 2019, HemaSphere.

Localization of the NRAS:BCL-2 complex determines anti-apoptotic features associated with progressive disease in myelodysplastic syndromes.

P. Merlet, H. Cavé, L. Sarda-Mantel, 2013, Leukemia research.

CNS-3 status remains an independent adverse prognosis factor in children with acute lymphoblastic leukemia (ALL) treated without cranial irradiation: Results of EORTC Children Leukemia Group study 58951.

H. Cavé, Y. Bertrand, A. Uyttebroeck, 2021, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Results of successive EORTC‐CLG 58 881 and 58 951 trials in paediatric T‐cell acute lymphoblastic leukaemia (ALL)

H. Cavé, Y. Bertrand, P. Rohrlich, 2019, British journal of haematology.

Long-term results of three randomized trials (58831, 58832, 58881) in childhood acute lymphoblastic leukemia: a CLCG-EORTC report. Children Leukemia Cooperative Group.

H. Cavé, Y. Bertrand, M. Fournier, 2000, Leukemia.

Identification ofa CloneofEscherichia coli 0103:H2 as a Potential AgentofHemolytic-Uremic Syndrome inFrance

H. Cavé, A. Milon, B. Picard, 1993 .

Intragenic amplification of PAX5: a novel subgroup in B-cell precursor acute lymphoblastic leukemia?

J. Tchinda, M. D. Den Boer, E. Froňková, 2017, Blood advances.

Intragenic ampli fi cation of PAX 5 : a novel subgroup in B-cell precursor acute lymphoblastic leukemia ?

J. Tchinda, M. L. Boer, E. Froňková, 2017 .

Therapeutic potential of ruxolitinib and ponatinib in patients with EPOR-rearranged Philadelphia chromosome-like acute lymphoblastic leukemia

A. Baruchel, C. Mullighan, M. Konopleva, 2021, Haematologica.

Efficacy of Tyrosine Kinase Inhibitors in Ph-like Acute Lymphoblastic Leukemia harboring ABL-class Rearrangements.

J. Soulier, E. Clappier, H. Dombret, 2019, Blood.

Genetic characterization and therapeutic targeting of MYC‐rearranged T cell acute lymphoblastic leukaemia

M. Loh, S. Raimondi, G. Berx, 2018, British journal of haematology.

Outcome of Children With Hypodiploid Acute Lymphoblastic Leukemia: A Retrospective Multinational Study.

C. Pui, R. Pieters, A. Baruchel, 2019, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

IKZF1plus Defines a New Minimal Residual Disease-Dependent Very-Poor Prognostic Profile in Pediatric B-Cell Precursor Acute Lymphoblastic Leukemia.

D. Steinemann, M. Muckenthaler, R. Houlston, 2018, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

The 12;21 translocation involving TEL and deletion of the other TEL allele: two frequently associated alterations found in childhood acute lymphoblastic leukemia.

P. Marynen, Caiying Guo, H. Cavé, 1996, Blood.

The TLX1 oncogene drives aneuploidy in T-cell transformation

Andrea Califano, Frank Speleman, Susana Raimondi, 2010, Nature Medicine.

A low rate of loss of heterozygosity is found at many different loci in childhood B-lineage acute lymphocytic leukemia.

H. Cavé, B. Grandchamp, J. Elion, 1996, Leukemia.

Growth patterns of patients with Noonan syndrome: correlation with age and genotype.

H. Cavé, A. Verloes, D. Lacombe, 2016, European journal of endocrinology.

Breakpoint-specific multiplex polymerase chain reaction allows the detection of IKZF1 intragenic deletions and minimal residual disease monitoring in B-cell precursor acute lymphoblastic leukemia

J. Soulier, E. Clappier, A. Baruchel, 2013, Haematologica.

Cherubism as a systemic skeletal disease: evidence from an aggressive case

H. Cavé, A. Berdal, E. Durand, 2020, BMC Musculoskeletal Disorders.

The MLL recombinome of acute leukemias in 2017

E. Clappier, J. Cayuela, V. V. D. van der Velden, 2017, Leukemia.

Quantitative analysis of chimerism after allogeneic stem cell transplantation by PCR amplification of microsatellite markers and capillary electrophoresis with fluorescence detection: the Paris–Robert Debré experience

H. Cavé, C. Acquaviva, D. Mirebeau, 2003, Leukemia.

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications

H. Cavé, M. Digilio, M. Tartaglia, 2020, European Journal of Human Genetics.

Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities

H. Cavé, M. Vidaud, A. Verloes, 2016, Orphanet Journal of Rare Diseases.

ETV6 is the target of chromosome 12p deletions in t(12;21) childhood acute lymphocytic leukemia

H. Cavé, C. Preudhomme, B. Grandchamp, 1997, Leukemia.

ALL positive childhood - BCR-ABL1 status as a prognostic feature in IKZF1

R. Pieters, M. L. Boer, H. Cavé, 2014 .

LYMPHOID NEOPLASIA IKZF 1 status as a prognostic feature in BCR-ABL 1 – positive childhood ALL

R. Pieters, M. L. Boer, M. Schrappe, 2014 .

Refinement of the 6q chromosomal region implicated in transient neonatal diabetes.

E. Denamur, M. Polak, H. Cavé, 2000, Diabetes.

Clinical characteristics and outcomes of B-ALL with ZNF384 rearrangements: a retrospective analysis by the Ponte di Legno Childhood ALL Working Group

M. Loh, C. Pui, C. Mullighan, 2021, Leukemia.

Expanding the cardiac spectrum of Noonan syndrome with RIT1 variant: Left main coronary artery atresia causing sudden death.

P. Croisille, H. Cavé, R. Touraine, 2017, European journal of medical genetics.

Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome–Multiple Lentigines)

H. Cavé, A. Verloes, M. Peuchmaur, 2012, American journal of medical genetics. Part A.

Differentiation of Escherichia coli strains using randomly amplified polymorphic DNA analysis.

E. Denamur, H. Cavé, J. Elion, 1994, Research in microbiology.

Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation

H. Cavé, N. Philip, C. Chiaverini, 2019, The British journal of dermatology.

Wilms tumor 1 (WT1) gene mutations in pediatric T-cell malignancies

E. Clappier, H. Cavé, C. Preudhomme, 2009, Leukemia.

In hematopoietic cells with a germline mutation of CBL, loss of heterozygosity is not a signature of juvenile myelo-monocytic leukemia

A. Baruchel, H. Cavé, T. Blauwblomme, 2013, Leukemia.

Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency

H. Cavé, A. Aeby, P. Bogaert, 2007, Journal of Inherited Metabolic Disease.

A competitive PCR-based method using TCRD, TCRG and IGH rearrangements for rapid detection of patients with high levels of minimal residual disease in acute lymphoblastic leukemia

H. Cavé, B. Grandchamp, E. Vilmer, 2002, Leukemia.

New autosomal recessive syndrome with short stature and facio–auriculo–thoracic malformations

E. Chouery, A. Mégarbané, H. Cavé, 2004, American journal of medical genetics. Part A.

Differential impact of drugs on the outcome of ETV6-RUNX1 positive childhood B-cell precursor acute lymphoblastic leukaemia: results of the EORTC CLG 58881 and 58951 trials

K. Norga, E. Clappier, H. Cavé, 2018, Leukemia.

lymphoblastic leukemia is highly curable: 58951 CLG-EORTC results Hyperdiploidy with 58-66 chromosomes in childhood B-acute

F. Speleman, H. Cavé, Y. Bertrand, 2013 .

Breakpoint-specific multiplex PCR allows the detection of IKZF 1 intragenic deletions and minimal residual disease monitoring in B-cell precursor acute lymphoblastic leukemia

J. Soulier, E. Clappier, A. Baruchel, 2012 .

A new PTPN11 mutation in juvenile myelomonocytic leukaemia associated with Noonan syndrome

H. Cavé, N. Sirvent, P. Boutté, 2005 .

Large deletions of the 5′ region of IKZF1 lead to haploinsufficiency in B‐cell precursor acute lymphoblastic leukaemia

H. Cavé, P. Kastner, L. Miguet, 2019, British journal of haematology.

Analysis of ETV6 and ETV6‐AML1 proteins in acute lymphoblastic leukaemia

H. Cavé, B. Gérard, B. Grandchamp, 1997, British journal of haematology.

Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia

E. Clappier, J. Renauld, S. Constantinescu, 2008, The Journal of experimental medicine.

Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation‐positive patients

H. Cavé, N. Philip, C. Chiaverini, 2018, The British journal of dermatology.

Neonatal diabetes mellitus : a disease linked to multiple mechanisms

M. Polak, H. Cavé, Michel Polak, 2015 .

Juvenile myelomonocytic leukemia displays mutations in components of the RAS pathway and the PRC2 network

A. Baruchel, C. Picard, H. Cavé, 2015, Nature Genetics.

Dexamethasone (6 mg/m2/day) and prednisolone (60 mg/m2/day) were equally effective as induction therapy for childhood acute lymphoblastic leukemia in the EORTC CLG 58951 randomized trial

H. Cavé, N. Dastugue, A. Uyttebroeck, 2014, Haematologica.

Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia

H. Cavé, A. Toutain, V. Drouin‐Garraud, 2016, European Journal of Human Genetics.

Imatinib treatment of paediatric Philadelphia chromosome-positive acute lymphoblastic leukaemia (EsPhALL2010): a prospective, intergroup, open-label, single-arm clinical trial.

R. Pieters, A. Baruchel, M. Schrappe, 2018, The Lancet. Haematology.

Clinical significance of HOX11L2 expression linked to t(5;14)(q35;q32), of HOX11 expression, and of SIL-TAL fusion in childhood T-cell malignancies: results of EORTC studies 58881 and 58951.

F. Speleman, A. Hagemeijer, H. Cavé, 2004, Blood.

t(5;14)/HOX11L2-positive T-cell acute lymphoblastic leukemia. A collaborative study of the Groupe Français de Cytogénétique Hématologique (GFCH)

F. Speleman, A. Hagemeijer, H. Cavé, 2003, Leukemia.

NOTCH1 and FBXW7 mutations have a favorable impact on early response to treatment, but not on outcome, in children with T-cell acute lymphoblastic leukemia (T-ALL) treated on EORTC trials 58881 and 58951

F. Speleman, E. Clappier, H. Cavé, 2010, Leukemia.

A new recurrent translocation t(11;14)(q24;q32) involving IGH@ and miR-125b-1 in B-cell progenitor acute lymphoblastic leukemia

I Radford-Weiss, P. Brousset, H. Cavé, 2010, Leukemia.

Different outcome of T cell acute lymphoblastic leukemia with translocation t(11;14) treated in two consecutive children leukemia group EORTC trials

E. Clappier, H. Cavé, P. Rohrlich, 2015, Annals of Hematology.

The prognostic significance of CDKN2A, CDKN2B and MTAP inactivation in B-lineage acute lymphoblastic leukemia of childhood. Results of the EORTC studies 58881 and 58951.

H. Cavé, N. Dastugue, S. Suciu, 2006, Haematologica.

Clinical, cytogenetic and molecular characteristics of 14 T-ALL patients carrying the TCRβ-HOXA rearrangement: a study of the Groupe Francophone de Cytogénétique Hématologique

F. Speleman, A. Hagemeijer, F. Sigaux, 2007, Leukemia.

Human MLL/KMT2A gene exhibits a second breakpoint cluster region for recurrent MLL–USP2 fusions

I. Ebersberger, H. Cavé, P. Ekert, 2019, Leukemia.

Neonatal hyperglycaemia and abnormal development of the pancreas.

R. Scharfmann, P. Froguel, M. Polak, 2008, Best practice & research. Clinical endocrinology & metabolism.

New ABCC8 Mutations in Relapsing Neonatal Diabetes and Clinical Features

R. Scharfmann, P. Froguel, M. Polak, 2007, Diabetes.

Diabetes in very young children and mutations in the insulin-secreting cell potassium channel genes: therapeutic consequences.

R. Scharfmann, P. Froguel, M. Polak, 2007, Endocrine development.

Prenatal diagnosis of trisomy 21 by i(21q): a rare case of fetoplacental chromosomal discrepancy

H. Cavé, S. Blesson, F. Perrotin, 2002, Prenatal diagnosis.

Long-term results of three randomized trials (58831, 58832, 58881) in childhood acute lymphoblastic leukemia: a CLCG-EORTC report

H. Cavé, Y. Bertrand, M. Fournier, 2000, Leukemia.

Transcription factor gene MNX1 is a novel cause of permanent neonatal diabetes in a consanguineous family.

R. Scharfmann, P. Froguel, M. Polak, 2013, Diabetes & metabolism.

Highly Sensitive Diagnosis of 43 Monogenic Forms of Diabetes or Obesity Through One-Step PCR-Based Enrichment in Combination With Next-Generation Sequencing

P. Froguel, M. Polak, H. Cavé, 2014, Diabetes Care.

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome

Yoichi Matsubara, Alain Verloes, Alice Goldenberg, 2007, Journal of Medical Genetics.

Inflammatory response in hematopoietic stem and progenitor cells triggered by activating SHP2 mutations evokes blood defects

H. Cavé, J. den Hertog, D. Langenau, 2020, bioRxiv.

Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome

Monia Magliozzi, Bruno Dallapiccola, Alessandro Sartorio, 2017, Human mutation.

Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation

Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, Albert David, 2010, Human mutation.

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome

Koichi Tabayashi, Kenji Kurosawa, Yoichi Matsubara, 2008, Journal of Human Genetics.

PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience

G Mortier, G. Mortier, H. Cavé, 2004, Journal of Medical Genetics.

A novel PTPN11 gene mutation in a patient with LEOPARD Syndrome.

H. Cavé, J. Guilhou, O. Dereure, 2007, Archives of dermatology.

Noonan syndrome, PTPN11 mutations, and brain tumors. A clinical report and review of the literature

H. Cavé, M. Tauber, M. Denuelle, 2017, American journal of medical genetics. Part A.

Juvenile myelomonocytic leukaemia and Noonan syndrome

Corinne Alberti, Alain Verloes, Christine Chomienne, 2014, Journal of Medical Genetics.

Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia

A. Baruchel, H. Cavé, N. Philip, 2010, Journal of Medical Genetics.

ClinGen’s RASopathy Expert Panel Consensus Methods for Variant Interpretation

Bruce D. Gelb, Hélène Cavé, Mitchell W. Dillon, 2018, Genetics in Medicine.

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

R. Hennekam, H. Cavé, D. Wieczorek, 2006, Nature Genetics.

Refinement of IKZF1 status in pediatric Philadelphia-positive acute lymphoblastic leukemia

M. L. Boer, E. Froňková, H. Cavé, 2015, Leukemia.

An intragenic ERG deletion is a marker of an oncogenic subtype of B-cell precursor acute lymphoblastic leukemia with a favorable outcome despite frequent IKZF1 deletions

F. Sigaux, J. Soulier, E. Clappier, 2014, Leukemia.

Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia

B. Meissner, C. Franceschi, A. Teigler‐Schlegel, 2011, Leukemia.

Prospective monitoring and quantitation of residual blasts in childhood acute lymphoblastic leukemia by polymerase chain reaction study of delta and gamma T-cell receptor genes.

H. Cavé, P. Rohrlich, O. Fenneteau, 1994, Blood.

Molecular analysis of nonrandom 8q12 deletions in acute lymphoblastic leukemia: Identification of two candidate genes

S. Duprat, H. Cavé, L. Cattolico, 2002, Genes, chromosomes & cancer.

High-resolution allelotype analysis of childhood B-lineage acute lymphoblastic leukemia

H. Cavé, B. Gérard, B. Grandchamp, 1998, Leukemia.

Clinical Significance of Minimal Residual Disease in Childhood Acute Lymphoblastic Leukemia

H. Cavé, B. Grandchamp, K. Thielemans, 1998 .

PAX5 mutations occur frequently in adult B-cell progenitor acute lymphoblastic leukemia and PAX5 haploinsufficiency is associated with BCR-ABL1 and TCF3-PBX1 fusion genes: a GRAALL study

J. D. Vos, P. Brousset, J. Soulier, 2009, Leukemia.

The MLL recombinome of acute leukemias in 2013

W. Choi, S. Bohlander, E. Clappier, 2013, Leukemia.

Long non-coding RNAs as novel therapeutic targets in juvenile myelomonocytic leukemia

J. Philippé, H. Cavé, D. Deforce, 2021, Scientific Reports.

Late recurrence of childhood T-cell acute lymphoblastic leukemia frequently represents a second leukemia rather than a relapse: first evidence for genetic predisposition.

D. Campana, J. V. van Dongen, V. V. D. van der Velden, 2011, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Childhood secondary ALL after ALL treatment

E. Clappier, E. Mejstrikova, O. Hrusak, 2007, Leukemia.

Clonal dynamics in pediatric B‐cell precursor acute lymphoblastic leukemia with very early relapse

H. Cavé, C. Eckert, R. Kuiper, 2021, Pediatric blood & cancer.

Oncogenetics and minimal residual disease are independent outcome predictors in adult patients with acute lymphoblastic leukemia.

J. Cayuela, H. Dombret, E. Macintyre, 2014, Blood.

Predictive value of minimal residual disease in Philadelphia-chromosome-positive acute lymphoblastic leukemia treated with imatinib in the European intergroup study of post-induction treatment of Philadelphia-chromosome-positive acute lymphoblastic leukemia, based on immunoglobulin/T-cell receptor a

R. Pieters, V. V. D. van der Velden, M. Schrappe, 2017, Haematologica.

Determinants of CD19-positive vs CD19-negative relapse after tisagenlecleucel for B-cell acute lymphoblastic leukemia

E. Clappier, A. Baruchel, H. Cavé, 2021, Leukemia.

Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy.

H. Cavé, M. Ahmadian, M. Tartaglia, 2020, Human molecular genetics.

Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia

H. Cavé, A. Verloes, C. Baumann, 2012, American journal of medical genetics. Part A.

Germinal mosaicism in Noonan syndrome: A family with two affected siblings of normal parents

H. Cavé, S. Elalaoui, A. Sefiani, 2010, American journal of medical genetics. Part A.

Distinctive genotypes in infants with T‐cell acute lymphoblastic leukaemia

J. Soulier, E. Clappier, M. Greaves, 2015, British journal of haematology.

International BFM study group collaborative study of the Resistant Disease Committee of the definition of ''isolated'' and its possible clinical implications, a relapses in childhood acute lymphoblastic leukemia: a more precise Submicroscopic bone marrow involvement in isolated extramedullary

E. Froňková, H. Cavé, C. Eckert, 2013 .

Submicroscopic bone marrow involvement in isolated extramedullary relapses in childhood acute lymphoblastic leukemia: a more precise definition of "isolated" and its possible clinical implications, a collaborative study of the Resistant Disease Committee of the International BFM study group.

E. Froňková, H. Cavé, C. Eckert, 2007, Blood.

Four-color flow cytometry bypasses limitations of IG/TCR polymerase chain reaction for minimal residual disease detection in certain subsets of children with acute lymphoblastic leukemia.

H. Cavé, P. Rohrlich, F. Garnache-Ottou, 2005, Haematologica.

Favorable outcome of NUTM1-rearranged infant and pediatric B cell precursor acute lymphoblastic leukemia in a collaborative international study

R. Stam, M. D. Den Boer, R. Pieters, 2021, Leukemia.

Hyperdiploidy with 58-66 chromosomes in childhood B-acute lymphoblastic leukemia is highly curable: 58951 CLG-EORTC results.

F. Speleman, H. Cavé, P. Rohrlich, 2013, Blood.

LOCALIZATION AND mRNA EXPRESSION OF CYP3A AND P-GLYCOPROTEIN IN HUMAN DUODENUM AS A FUNCTION OF AGE

H. Cavé, M. Peuchmaur, M. Fakhoury, 2005, Drug Metabolism and Disposition.

Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study

Kenneth L. Jones, A. Hattersley, S. Ellard, 2018, The lancet. Diabetes & endocrinology.

A Phase I Study of Clofarabine With Multiagent Chemotherapy in Childhood High Risk Relapse of Acute Lymphoblastic Leukemia (VANDEVOL Study of the French SFCE Acute Leukemia Committee)

A. Baruchel, G. Leverger, H. Cavé, 2016, Pediatric blood & cancer.

Are RASopathies new monogenic predisposing conditions to the development of systemic lupus erythematosus? Case report and systematic review of the literature.

F. Rieux-Laucat, H. Cavé, B. Bader-Meunier, 2013, Seminars in arthritis and rheumatism.

Neonatal diabetes mellitus: chromosomal analysis in transient and permanent cases.

M. Polak, H. Cavé, P. Czernichow, 2002, The Journal of pediatrics.

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

Trevor J Pugh, L. Pennacchio, J. Priest, 2015, Human mutation.

The EuroChimerism concept for a standardized approach to chimerism analysis after allogeneic stem cell transplantation

F. Frommlet, F. Watzinger, T. Lion, 2012, Leukemia.

De novo NUF2 variant in a novel inherited bone marrow failure syndrome including microcephaly and renal hypoplasia

P. Gressens, H. Cavé, A. Verloes, 2022, British journal of haematology.

Prenatal phenotypic overlap of Costello syndrome and severe Noonan syndrome by tri‐dimensional ultrasonography

H. Cavé, M. Gerard-Blanluet, L. Devisme, 2006, Prenatal diagnosis.

ClinGen’s RASopathy Expert Panel Consensus Methods for Variant Interpretation

Mitchell W Dillon, H. Cavé, B. Gelb, 2018, Genetics in Medicine.

RFX6 regulates insulin secretion by modulating Ca2+ homeostasis in human β cells.

P. Rorsman, R. Scharfmann, P. Froguel, 2014, Cell reports.

Disruption of a Novel Krüppel-like Transcription Factor p300-regulated Pathway for Insulin Biosynthesis Revealed by Studies of the c.-331 INS Mutation Found in Neonatal Diabetes Mellitus

U. Hodoğlugil, R. Scharfmann, P. Froguel, 2011, The Journal of Biological Chemistry.

LEOPARD syndrome-associated SHP2 mutation confers leanness and protection from diet-induced obesity

H. Cavé, P. Valet, J. Salles, 2014, Proceedings of the National Academy of Sciences.

Heterozygous Missense Mutations in the Insulin Gene Are Linked to Permanent Diabetes Appearing in the Neonatal Period or in Early Infancy

R. Scharfmann, P. Froguel, M. Polak, 2008, Diabetes.

Fetal costello syndrome with neuromuscular spindles excess and p.Gly12Val HRAS mutation.

H. Cavé, L. Pasquier, M. Fradin, 2017, European journal of medical genetics.

Neonatal Diabetes Mellitus

M. Polak, H. Cavé, K. Busiah, 2020, Frontiers in Pediatrics.

Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study [corrected].

R. Scharfmann, P. Froguel, M. Phillip, 2013, The lancet. Diabetes & endocrinology.

Myeloid Dysregulation in a Human Induced Pluripotent Stem Cell Model of PTPN11-Associated Juvenile Myelomonocytic Leukemia.

H. Cavé, B. Gelb, L. Edelmann, 2015, Cell reports.

Myeloid Dysregulation in a Human Induced Pluripotent Stem Cell Model of PTPN 11-Associated Juvenile Myelomonocytic Leukemia Graphical

H. Cavé, B. Gelb, L. Edelmann, 2015 .

Mapping of chromosome 20 for loss of heterozygosity in childhood ALL reveals a 1000-kb deletion in one patient

H. Cavé, B. Grandchamp, M. Duval, 1999, Leukemia.

Follow‐up of post‐transplant minimal residual disease and chimerism in childhood lymphoblastic leukaemia: 90 d to react

J. Cayuela, E. Macintyre, H. Cavé, 2015, British journal of haematology.

Expansion of polyclonal B-cell precursors in bone marrow from children treated for acute lymphoblastic leukemia.

H. Cavé, P. Rohrlich, O. Fenneteau, 1997, Hematology and cell therapy.

A new rare homozygous mutation in the POLR3A gene causes ataxo-spasmodic leukodystrophy

H. Cavé, P. Labauge, S. Daoudi, 2022, Romanian Journal of Neurology.

Case Report: Targeting 2 Antigens as a Promising Strategy in Mixed Phenotype Acute Leukemia: Combination of Blinatumomab With Gemtuzumab Ozogamicin in an Infant With a KMT2A-Rearranged Leukemia

A. Baruchel, H. Cavé, É. Lainey, 2021, Frontiers in Oncology.

SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.

L. Vissers, H. Cavé, B. Gelb, 2021, American journal of human genetics.

Identification of a polymorphism in the coding region of the p27Kip1 gene.

H. Cavé, B. Grandchamp, I. Devaux, 1995, Annales de genetique.

Deletion mapping indicates that MTS1 is the target of frequent deletions at chromosome 9p21 in paediatric acute lymphoblastic leukaemias

H. Cavé, P. Rohrlich, B. Gérard, 1996, British journal of haematology.

Long-term Metabolic and Socioeducational Outcomes of Transient Neonatal Diabetes: A Longitudinal and Cross-sectional Study

R. Scharfmann, M. Polak, H. Cavé, 2020, Diabetes Care.

Microsatellite instability and frameshift mutations in BAX and transforming growth factor-beta RII genes are very uncommon in acute lymphoblastic leukemia in vivo but not in cell lines.

H. Cavé, B. Gérard, B. Grandchamp, 1998, Blood.

International Standardization of Minimal Residual Disease Assessment for in Philadelphia Chromosome Positive Acute Lymphoblastic Leukemia (Ph+ALL) Expressing m-BCR-ABL Transcripts: Updated Results of Quality Control Procedures by the EWALL and ESG-MRD-ALL Consortia

E. Yeoh, J. Cayuela, B. Schäfer, 2011 .

Clinical, molecular, and therapeutic aspects of NDM in ten cases with diabetes in 1st 6 months of life

M. Polak, H. Cavé, M. Hafez, 2016, International Journal of Diabetes in Developing Countries.

Polyvalvular heart disease with joint hypermobility, characteristic facies, and particular skin abnormalities: new cases of "polyvalvular heart disease syndrome" or new association?

H. Cavé, A. Verloes, M. Tauber, 2010, European journal of medical genetics.

Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patients With Neonatal Diabetes Owing to Potassium Channel Mutations

R. Scharfmann, M. Polak, H. Cavé, 2015, Diabetes Care.

Mutations in the ABCC8 gene can cause autoantibody-negative insulin-dependent diabetes.

M. Polak, H. Cavé, M. Vaxillaire, 2009, Diabetes & metabolism.

Assessing the Gene-Disease Association of 19 Genes with the RASopathies using the ClinGen Gene Curation Framework

Andrew R. Grant, Mitchell W Dillon, H. Cavé, 2018, bioRxiv.

Low CNS Relapse Incidence without Radiotherapy and Improvement of Outcome: Results of Subsequent EORTC-CLG 58881 and 58951 Trials in Pediatric T-Cell Acute Lymphoblastic Leukemia (ALL)

H. Cavé, P. Rohrlich, Y. Bertrand, 2012 .

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications

H. Cavé, M. Digilio, M. Tartaglia, 2020, European Journal of Human Genetics.

Assessing the Gene-Disease Association of 19 Genes with the RASopathies using the ClinGen Gene Curation Framework

Andrew R. Grant, Mitchell W Dillon, H. Cavé, 2018, bioRxiv.

Congenital hyperinsulinism, neonatal diabetes and the risk of malignancies: an international collaborative study. Preliminary communication

H. Huopio, C. Stanley, M. Polak, 2015, Diabetic medicine : a journal of the British Diabetic Association.

Clinical characteristics and outcomes of B-cell precursor ALL with MEF2D rearrangements: a retrospective study by the Ponte di Legno Childhood ALL Working Group

M. Loh, C. Pui, C. Mullighan, 2022, Leukemia.

LIN28B is over-expressed in specific subtypes of pediatric leukemia and regulates lncRNA H19

G. Berx, F. Speleman, H. Cavé, 2016, Haematologica.

Brief Report: Visual-Spatial Deficit in a 16-year-old Girl with Maternally Derived Duplication of Proximal 15q

L. Cohen, H. Cavé, Anna J. Wilson, 2007, Journal of autism and developmental disorders.

Human Pancreas Endocrine Cell Populations and Activating ABCC8 Mutations

R. Scharfmann, M. Polak, H. Cavé, 2014, Hormone Research in Paediatrics.

Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients.

A. Hattersley, P. Froguel, M. Polak, 2004, Diabetes.

The EGR3 regulome of infant KMT2A-r acute lymphoblastic leukemia identifies differential expression of B-lineage genes predictive for outcome

H. Cavé, C. Eckert, M. Valsecchi, 2023, Leukemia.

The KMT2A recombinome of acute leukemias in 2023

E. Clappier, V. V. D. van der Velden, B. Schäfer, 2023, Leukemia.

[Early onset diabetes mellitus].

M. Polak, H. Cavé, K. Busiah, 2013, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation

L. Servais, H. Cavé, N. Romero, 2014, Neuromuscular Disorders.

Prognostic Significance of NOTCH1 and FBXW7 Mutations in Childhood T-Cell Acute Lymphoblastic Leukemia (T-ALL): Results From the EORTC Children Leukemia Group.

F. Speleman, E. Clappier, H. Cavé, 2009 .

Partitioning for easy multiplexing: a versatile droplet PCR application for clone monitoring in tumors.

H. Cavé, Y. Vial, A. Caye-Eude, 2023, The Journal of molecular diagnostics : JMD.

Prolonged E. Coli Asparaginase Therapy Does Not Improve Significantly the Outcome for Children with Low and Average Risk Acute Lymphoblastic Leukemia (ALL) and Non Hodgkin Lymphoma (NHL): Final Report of the EORTC-CLG Randomized Phase III Trial 58951

H. Cavé, P. Rohrlich, Y. Bertrand, 2012 .

The prognostic value of IKZF1plus in B‐cell progenitor acute lymphoblastic leukemia: Results from the EORTC 58951 trial

H. Cavé, P. Rohrlich, Y. Bertrand, 2023, Pediatric blood & cancer.

Juvenile myelomonocytic leukemia; moving forward

E. Solary, H. Cavé, R. de Vito, 2023, Leukemia.

The MLL recombinome of acute leukemias in 2013

W. Choi, S. Bohlander, E. Clappier, 2013, Leukemia.

Reliability of PCR directly from stool samples: usefulness of an internal standard.

H. Cavé, B. Grandchamp, J. Elion, 1994, BioTechniques.

Minimal residual disease in acute lymphoblastic leukemia

H. Cavé, 2011 .

Proceedings of the fifth international RASopathies symposium: When development and cancer intersect

S. Shvartsman, J. Albeck, M. Therrien, 2018, American Journal of Medical Genetics. Part A.

Transient neonatal diabetes mellitus and activating mutation in the KCNJ11 gene in two siblings.

M. Polak, H. Cavé, M. Hachicha, 2017, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome

H. Cavé, A. Verloes, H. Ohashi, 2008, Journal of Human Genetics.

A new PTPN11 mutation in juvenile myelomonocytic leukaemia associated with Noonan syndrome.

H. Cavé, N. Sirvent, P. Boutté, 2005, Acta paediatrica.

The long non-coding RNA landscape in juvenile myelomonocytic leukemia

J. Philippé, H. Cavé, C. Niemeyer, 2018, Haematologica.

Safety and Efficacy of Tisagenlecleucel (CTL019) in B-Cell Acute Lymphoblastic Leukemia in Children, Adolescents and Young Adults: The French Experience

E. Clappier, A. Baruchel, H. Cavé, 2019, Blood.

The EuroChimerism concept for a standardized approach to chimerism analysis after allogeneic stem cell transplantation

F. Frommlet, F. Watzinger, T. Lion, 2012, Leukemia.

Growth patterns of patients with Noonan syndrome: correlation with age and genotype.

H. Cavé, A. Verloes, D. Lacombe, 2016, European journal of endocrinology.

‘Cobblestone’ papillomatous linear papules of the upper lip: a new sign of Costello syndrome

H. Cavé, C. Baumann, B. Guillot, 2013, The British journal of dermatology.

Juvenile myelomonocytic leukaemia and Noonan syndrome

A. Baruchel, H. Cavé, S. Gazal, 2014, Journal of Medical Genetics.

Excess of Neuromuscular Spindles in a Fetus with Costello Syndrome: A Clinicopathological Report

H. Cavé, G. Bassez, F. Encha-Razavi, 2011, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Localization and mRNA expression of CY3A and P-gp in human duodenum as a function of age

H. Cavé, Michel, M. Fakhoury, 2005 .

Clinical significance of minimal residual disease in childhood acute lymphoblastic leukemia. European Organization for Research and Treatment of Cancer--Childhood Leukemia Cooperative Group.

H. Cavé, B. Grandchamp, K. Thielemans, 1998, The New England journal of medicine.

Acute Lymphoblastic Leukemia in Children with Down Syndrome: A Report From the Ponte Di Legno Study Group

C. Pui, R. Pieters, N. Heerema, 2011 .

Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patients With Neonatal Diabetes Owing to Potassium Channel Mutations

R. Scharfmann, M. Polak, H. Cavé, 2015, Diabetes Care.

Prenatal findings in cardio‐facio‐cutaneous syndrome

H. Cavé, A. Toutain, N. Philip, 2016, American journal of medical genetics. Part A.

[Infant acute leukemia].

A. Baruchel, H. Cavé, B. Brethon, 2016, Bulletin du cancer.

Human Pancreas Endocrine Cell Populations and Activating ABCC8 Mutations

R. Scharfmann, M. Polak, H. Cavé, 2014, Hormone Research in Paediatrics.

NUTM1-Rearranged Infant and Pediatric B Cell Precursor Acute Lymphoblastic Leukemia: A Good Prognostic Subtype Identified in a Collaborative International Study

R. Stam, R. Pieters, M. L. Boer, 2020, Blood.