B. Leheup

R. Bouvier, B. Leheup, D. Gaillard, 1996, Pediatric pathology & laboratory medicine : journal of the Society for Pediatric Pathology, affiliated with the International Paediatric Pathology Association.

A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype

H. Dollfus, B. Leheup, C. Stoetzel, 2011, Ophthalmic genetics.

Confirmation of TFAP2A gene involvement in branchio‐oculo‐facial syndrome (BOFS) and report of temporal bone anomalies

H. Dollfus, J. Danse, F. Veillon, 2009, American journal of medical genetics. Part A.

Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families

A. Munnich, C. Farra, A. Verloes, 2009, Journal of Medical Genetics.

Molecular analysis of Pericentrin gene (PCNT) in a series of 24 Seckel/ MOPD II families

A. Munnich, C. Farra, A. Verloes, 2009 .

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype–phenotype correlation

A. Munnich, N. Boddaert, R. Salomon, 2009, Human mutation.

Array-CGH Analysis Suggests Genetic Heterogeneity in Rhombencephalosynapsis

I. Gicquel, A. Laquérriere, L. Pasquier, 2013, Molecular Syndromology.

Dominant-negative GCMB mutations cause an autosomal dominant form of hypoparathyroidism.

B. Grandchamp, H. Jüppner, G. Weryha, 2008, The Journal of clinical endocrinology and metabolism.

NDRG1-linked Charcot-Marie-Tooth disease (CMT4D) with central nervous system involvement

N. Lévy, A. Echaniz-Laguna, P. Latour, 2007, Neuromuscular Disorders.

Why do idiopathic scoliosis patients participate more in gymnastics?

G. Gauchard, P. Perrin, P. Perrin, 2006, Scandinavian journal of medicine & science in sports.

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome

S. Julia, R. Touraine, A. Toutain, 2017, American journal of medical genetics. Part C, Seminars in medical genetics.

Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature

P. Jonveaux, G. Weryha, B. Leheup, 2014, Journal of Endocrinological Investigation.

ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia

S. Julia, M. Cossée, J. Mandel, 2011, American journal of medical genetics. Part A.

Recurrence of symptomatic patent ductus arteriosus in extremely premature infants, treated with indomethacin.

R. Cotton, M. Mellander, T. Graham, 1984, The Journal of pediatrics.

Height growth during adolescence and final height after haematopoietic SCT for childhood acute leukaemia: the impact of a conditioning regimen with BU or TBI

P. Auquier, H. Chambost, A. Loundou, 2009, Bone Marrow Transplantation.

Deciphering the natural history of SCA7 in children

A. Durr, D. Devos, C. Cazeneuve, 2020, European journal of neurology.

Late onset epileptic spasms is frequent in MECP2 gene duplication: electroclinical features and long-term follow-up of 8 epilepsy patients.

C. Delanoé, S. Auvin, O. Boespflug-Tanguy, 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Primary amenorrhea in four adolescents revealed 5α-reductase deficiency confirmed by molecular analysis.

P. Philibert, C. Sultan, G. Ocal, 2011, Fertility and sterility.

Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions

P. Chambon, C. Philippe, P. Jonveaux, 2008, European Journal of Human Genetics.

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

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

Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD.

S. Liebhaber, S. Amselem, B. Stanger, 2016, Human Molecular Genetics.

[Li-Fraumeni syndrome: update, new data and guidelines for clinical management].

O. Delattre, D. Frappaz, C. Bonaiti-Pellié, 2001, Bulletin du cancer.

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11

R. Pfundt, A. Toutain, N. Philip, 2016, American journal of medical genetics. Part A.

Immunolocalization of type IV collagen and laminin during rat gonadal morphogenesis and postnatal development of the testis and epididymis

B. Leheup, J. Gelly, G. Grignon, 2004, Histochemistry.

Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE

T. Bourgeron, R. Delorme, C. Gillberg, 2012, Translational Psychiatry.

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.

Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay.

A. Reis, A. Rauch, M. Krumbiegel, 2022, European journal of medical genetics.

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

J. Stoler, C. Garel, C. Depienne, 2017, Human Genetics.

Compound Heterozygous and Homozygous Mutations of the TSHβ Gene as a Cause of Congenital Central Hypothyroidism in Europe

K. Debatin, E. Schoenle, B. Karges, 2004, Hormone Research in Paediatrics.

McCune-Albright syndrome, natural history and multidisciplinary management in a series of 14 pediatric cases.

G. Weryha, B. Leheup, P. Journeau, 2016, Annales d'endocrinologie.

What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome?

G. Jondeau, J. Thevenon, L. Faivre, 2012, Prenatal diagnosis.

(pl 1.2q21.3) associated with mental retardation using FISH

A. Monaco, C. Philippe, P. Jonveaux, 2022 .

Pubertal outcomes of children transplanted with allogeneic stem cells after myeloablative total body irradiation or busulfan: Influence of age and sex is confirmed, while a role of chronic graft-versus-host disease in delayed puberty onset is revealed.

B. Leheup, C. Pochon, J. Dalle, 2020, Pediatric transplantation.

Noonan syndrome: relationships between genotype, growth, and growth factors.

M. Vidaud, S. Lyonnet, B. Parfait, 2006, The Journal of clinical endocrinology and metabolism.

Atypical phenotype of a patient with Bardet–Biedl syndrome type 4

C. Philippe, B. Leheup, O. Klein, 2022, Molecular genetics & genomic medicine.

Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD

J. Rosenfeld, R. Pfundt, M. Shinawi, 2020, Journal of Medical Genetics.

Plasma 6-keto prostaglandin F1α and thromboxane B2 in sick preterm neonates

A. Fleischer, K. Brigham, B. Leheup, 1985 .

Osteochondroma after pediatric hematopoietic stem cell transplantation: report of eight cases

P. Lascombes, P. Bordigoni, B. Leheup, 2002, Bone Marrow Transplantation.

30 months follow-up of an early enzyme replacement therapy in a severe Morquio A patient: About one case

S. Ragot, R. Froissart, B. Leheup, 2016, Molecular genetics and metabolism reports.

A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of Swiss ancestry with congenital lipoid adrenal hyperplasia.

G. Theintz, J. Achermann, C. Flück, 2005, The Journal of clinical endocrinology and metabolism.

Genetic analysis of adults heterozygous for ALPL mutations

C. Roux, M. Laurent, P. Guggenbuhl, 2018, Journal of Bone and Mineral Metabolism.

Screening for Y-derived sex determining gene SRY in 40 patients with Turner syndrome.

J. Weill, J. Lobaccaro, C. Sultan, 1993, The Journal of clinical endocrinology and metabolism.

Screening for Y-derived sex determining gene SRY in 40 patients with Turner syndrome

J. Weill, J. Lobaccaro, C. Sultan, 1992 .

NNT mutations: a cause of primary adrenal insufficiency, oxidative stress and extra-adrenal defects.

X. Bertagna, Y. Morel, C. Heinrichs, 2016, European journal of endocrinology.

Pathophysiology of impaired ovarian function in galactosaemia.

P. Jouvet, B. Leheup, T. Forges, 2006, Human reproduction update.

The mutation spectrum in Holt-Oram syndrome

G. Mortier, R. Newbury-Ecob, P. Jonveaux, 2000, Journal of medical genetics.

Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2)

J. Hardelin, Jacques Young, D. Lacombe, 2005, Human mutation.

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype

M. Sanson, J. Soulier, I. Bièche, 2010, Human mutation.

Pure de-novo 5 Mb duplication at Xp11.22-p11.23 in a male: phenotypic and molecular characterization

P. Jonveaux, B. Leheup, E. Raffo, 2006, Journal of Human Genetics.

TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study

V. Shashi, K. Schoch, B. Dallapiccola, 2021, American journal of medical genetics. Part A.

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.

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

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

Severe Phenotype in Patients with Large Deletions of NF1

S. Julia, E. Pasmant, A. Sabbagh, 2021, Cancers.

Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease.

J. Bertherat, X. Bertagna, A. Louvel, 2002, The Journal of clinical endocrinology and metabolism.

Fortuitous FISH diagnosis of an interstitial microdeletion (5)(q31.1q31.2) in a girl suspected to present a cri‐du‐chat syndrome

P. Jonveaux, P. Callier, N. Marle, 2007, American journal of medical genetics. Part A.

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith–Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

M. Polak, A. Verloes, D. Lacombe, 2015, Human mutation.

Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.

M. Brown, S. Robertson, G. Mortier, 2012, American journal of human genetics.

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

C Binquet, A. Mégarbané, A. Toutain, 2013, Clinical genetics.

Peroxisomes and peroxisomal enzymes in the human fetal small intestine.

J. Keller, B. Leheup, M. Dauça, 1996, Biology of the neonate.

Clinical and molecular genetic features of ARC syndrome

Colin A. Johnson, E. Génin, H. Mandel, 2006, Human Genetics.

Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome

L. Guerrini-Rousseau, N. Sevenet, T. Frebourg, 2017, Journal of Medical Genetics.

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

S. Julia, R. Touraine, A. Afenjar, 2018, Journal of Medical Genetics.

Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)

G. Jondeau, D. Lacombe, L. Faivre, 2019, Genetics in Medicine.

Aberrant GRIA3 transcripts with multi‐exon duplications in a family with X‐linked mental retardation

C. Philippe, P. Jonveaux, B. Leheup, 2009, American journal of medical genetics. Part A.

Extended spectrum of MBD5 mutations in neurodevelopmental disorders

M. Devignes, C. Philippe, P. Jonveaux, 2013, European Journal of Human Genetics.

Terminal deletion of the long arm of chromosome 10

P. Jonveaux, B. Leheup, S. Scigliano, 2004, Clinical genetics.

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

J. Laplanche, S. Julia, A. Toutain, 2015, Genetics in Medicine.

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

J. Stoler, C. Garel, C. Depienne, 2017, Human Genetics.

Mutation spectrum in the large GTPase dynamin 2, and genotype–phenotype correlation in autosomal dominant centronuclear myopathy

Jocelyn Laporte, Luciano Merlini, Christophe Béroud, 2012, Human mutation.

Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France

S. Pinson, F. Coulet, F. Soubrier, 2004, Human mutation.

Level of RUNX1 activity is critical for leukemic predisposition but not for thrombocytopenia.

D. Bluteau, N. Balayn, E. Solary, 2015, Blood.

Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome

G. Jondeau, D. Lacombe, G. Collod-Béroud, 2016, Journal of Medical Genetics.

Mutation of SLC9A1, encoding the major Na⁺/H⁺ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome.

N. Drouot, M. Koenig, M. Claustres, 2015, Human molecular genetics.

Genetic counselling difficulties and ethical implications of incidental findings from array‐CGH: a 7‐year national survey

S. Julia, A. Afenjar, A. Toutain, 2016, Clinical genetics.

De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome.

V. Dulieu, G. Jondeau, M. Claustres, 2010, European journal of medical genetics.

Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication

C. Bénéteau, C. Philippe, P. Jonveaux, 2010, American journal of medical genetics. Part A.

Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females.

M. Fichera, C. Romano, J. Clayton-Smith, 2009, American journal of human genetics.

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

A. Munnich, S. Julia, A. Toutain, 2019, Genetics in Medicine.

Effects of Mono‐n‐butyl Phthalate on the Development of Rat Embryos: In vivo and in vitro Observations

A. Saillenfait, B. Leheup, I. Langonné, 2001 .

Antibodies tochoroid plexus insenile dementia ofAlzheimer's type

M. Béné, G. Faure, D. Christmann, 1992 .

Frequency of thrombocytopenia and large platelets correlates neither with conotruncal cardiac anomalies nor immunological features in the chromosome 22q11.2 deletion syndrome

J. Cloez, P. Jonveaux, D. Bensoussan, 2004, European Journal of Pediatrics.

Radiological and clinical analysis of Madelung's deformity in children.

G. Dautel, B. Leheup, P. Journeau, 2014, Orthopaedics & traumatology, surgery & research : OTSR.

Mutations of codon 2085 in the helicase domain of ATRX are recurrent and cause ATRX syndrome

F. Giuliano, B. Leheup, D. Mowat, 2014, Clinical genetics.

Three‐year data from a comparative study with recombinant human growth hormone in the treatment of short stature in young children with intrauterine growth retardation

P. Czernichow, B. Leheup, R. Rappaport, 1998, Acta paediatrica.

25 FINAL HEIGHT OF PATIENTS WITH IDIOPATHIC PITUITARY GROWTH FAILURE. CORRELATION WITH 5 ADULT HEIGHT PREDICTION METHODS AT THE ONSET AND AFTER ONE YEAR OF TREATMENT

B. Leheup, M. Pierson, Yolande Palandri, 1985, Pediatric Research.

SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.

J. Rosenfeld, J. Beckmann, J. Hirschhorn, 2013, American journal of human genetics.

[Sandifer's syndrome in a 5-month-old child with suspicion of infantile spasms].

J. Auger, B. Leheup, E. Raffo, 2016, Archives de pédiatrie.

Differentiated aspect of female and male mouse mesonephroi.

J. Mallet, H. Gérard, B. Foliguet, 1998, International Journal of Developmental Biology.

Erratum: Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB

M. Brown, S. Robertson, G. Mortier, 2014 .

10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

J. Melki, A. Toutain, A. Verloes, 2021, Orphanet Journal of Rare Diseases.

Incidence of cardiovascular events and risk markers in a prospective study of children diagnosed with Marfan syndrome.

J. Ruidavets, J. Ferrières, G. Jondeau, 2019, Archives of cardiovascular diseases.

The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia

Alice C. Roy, Y. Paulignan, T. Nazir, 2014, Orphanet Journal of Rare Diseases.

Refinement of genotype‐phenotype correlation in 18 patients carrying a 1q24q25 deletion

Z. Tümer, H. Stewart, C. Ruivenkamp, 2015, American journal of medical genetics. Part A.

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability

B. O’Roak, A. Munnich, G. Jondeau, 2020, Journal of Medical Genetics.

Unusual cutaneous features associated with a heterozygous gain‐of‐function mutation in IFIH1: overlap between Aicardi‐Goutières and Singleton‐Merten syndromes

C. Bodemer, G. Rice, T. Briggs, 2015, The British journal of dermatology.

Folinic acid improves the score of Autism in the EFFET placebo-controlled randomized trial.

E. Quadros, R. Guéant-Rodriguez, A. Oussalah, 2020, Biochimie.

3D Reconstruction of the Mouse's Mesonephros

J. Mallet, H. Gérard, B. Foliguet, 1998, Anatomia, histologia, embryologia.

Microtriplication of 11q24.1: a highly recognisable phenotype with short stature, distinctive facial features, keratoconus, overweight, and intellectual disability

C. Bénéteau, C. Philippe, P. Jonveaux, 2011, Journal of Medical Genetics.

[Noonan's syndrome and its cardiovascular dysplasia. Apropos of 64 cases].

C. Pernot, B. Leheup, F. Marçon, 1989, Pediatrie.

Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia

N. Drouot, M. Koenig, F. Ory-Magne, 2021, Journal of Neurology.

Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome

D. Horn, H. Hennies, D. Chitayat, 2005, Journal of Medical Genetics.

Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway

C. Chéry, R. Guéant-Rodriguez, A. Oussalah, 2019, Human Genetics.

cancer in two families pyloric stenosis , endometriosis , and breast Delineation of a new syndrome : clustering of NAROD

G. Mortier, P. Jonveaux, C. Gardiner, 2000 .

malformations ascertained in a fetus with multiple chromosome derived from chromosome 3 An analphoid supernumerary marker

G. Mortier, P. Jonveaux, C. Gardiner, 2000 .

Hemiplegic cerebral palsy and the factor V Leiden mutation

G. Mortier, S. Uhrig, R. Newbury-Ecob, 2000, Journal of medical genetics.

Wolf-Hirschhorn syndrome ( WHS ) unbalanced translocations in patients with Unexpected high frequency of de novo

G. Mortier, P. Jonveaux, C. Gardiner, 2000 .

Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting

A. Toutain, N. Philip, P. Jouk, 2023, BMC Health Services Research.

Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population

R. Touraine, C. Elie, J. Auger, 2016, Hormone Research in Paediatrics.

Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study

G. Lefort, P. Jonveaux, B. Leheup, 2023, Genome Medicine.

Effect of age at thyroid stimulating hormone normalization on postural control in children with congenital hypothyroidism

G. Gauchard, P. Perrin, B. Leheup, 2004, Developmental medicine and child neurology.

[Recommendations for the medical management of aortic complications of Marfan's syndrome].

G. Jondeau, D. Lacombe, L. Faivre, 2006, Archives des maladies du coeur et des vaisseaux.

Mac Cune-Albright syndrome. Answer to the e-quid "Painful lameness in a child".

B. Leheup, M. Claudon, P. Journeau, 2013, Diagnostic and interventional imaging.

[Microdeletion of the chromosome 22q11 in children: apropos of a series of 49 patients].

D. Lacombe, B. Leheup, F. Rouault, 1996, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Intrinsic factor receptor during fetal development of the human intestine.

B. Leheup, J. Nicolas, H. Schohn, 1992, The Biochemical journal.

[Prenatal diagnosis of a pancreatic cyst due to Ivemark II syndrome].

B. Leheup, P. Droullé, A. Miton, 1998, Journal de gynecologie, obstetrique et biologie de la reproduction.

Syndrome de microdélétion 22q11.2 : analyse du parcours patient avant le diagnostic génétique

G. Bosser, B. Leheup, L. Lambert, 2017 .

Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families

H. Galehdari, M. Abramowicz, G. Lefort, 2022, Clinical genetics.

Clinical audit concerning the quality of management in patients with classic form of congenital adrenal hyperplasia.

G. Weryha, B. Leheup, C. Janin, 2013, Annales d'endocrinologie.

Molecular basis of the Li–Fraumeni syndrome: an update from the French LFS families

C. Bonaïti‐pellié, D. Stoppa-Lyonnet, A. Chompret, 2008, Journal of Medical Genetics.

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

Allison G. Dempsey, S. Spence, D. Ledbetter, 2012, Journal of Medical Genetics.

Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families

A. Munnich, D. Bonneau, L. Viollet, 2004, European Journal of Human Genetics.

Extracellular matrix biosynthesis by cultured fetal rat lung epithelial cells. I. Characterization of the clone and the major genetic types of collagen produced.

B. Leheup, M. L. Guerry-Force, P. Commers, 1989, Laboratory investigation; a journal of technical methods and pathology.

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith–Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

M. Polak, A. Verloes, D. Lacombe, 2015, Human Mutation.

Genetic counselling difficulties and ethical implications of incidental findings from array‐CGH: a 7‐year national survey

S. Julia, A. Afenjar, A. Toutain, 2016, Clinical genetics.

A novel highly-penetrant form of obesity due to microdeletions on chromosome 16p11.2

P. Elliott, M. Jarvelin, L. Coin, 2009, Nature.

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

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

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

L. Coin, C. Gieger, R. Pfundt, 2011, Nature.

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

P. Elliott, M. Jarvelin, C. Gieger, 2021 .

Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway

C. Chéry, R. Guéant-Rodriguez, A. Oussalah, 2019, Human Genetics.

De novo complex X chromosome rearrangement unmasking maternally inherited CSF2RA deletion in a girl with pulmonary alveolar proteinosis

C. Philippe, P. Jonveaux, J. Auger, 2013, American journal of medical genetics. Part A.

Growth Hormone Dose Modulation and Final Height in Short Children Born Small for Gestational Age: French Real-Life Data

J. Salles, M. Nicolino, B. Leheup, 2023, Hormone Research in Paediatrics.

Vitamin B12 Deficiency Dysregulates m6A mRNA Methylation of Genes Involved in Neurological Functions.

Sébastien Hergalant, David Coelho, B. Leheup, 2021, Molecular nutrition & food research.

Genotype–phenotype correlations to aid in the prognosis of individuals with uncommon 20q13.33 subtelomere deletions: a collaborative study on behalf of the ‘association des Cytogénéticiens de langue Française’

A. Toutain, P. Jonveaux, B. Leheup, 2007, European Journal of Human Genetics.

Mutation of SLC9A1, encoding the major Na⁺/H⁺ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome.

N. Drouot, M. Koenig, M. Claustres, 2015, Human molecular genetics.

Immunohistochemical localization of insulin-like growth factor I (IGF-I) in the rat epididymis.

B. Leheup, G. Grignon, 1993, Journal of andrology.

[Dilatation of the cerebral ventricles diagnosed in utero. 85 case reports].

B. Leheup, P. Droullé, S. Gilgenkrantz, 1991, Journal de gynecologie, obstetrique et biologie de la reproduction.

Anionic sites in the basement membrane of the rat epididymal epithelium during ontogenesis and after testicular and gonadal tract lesions

B. Leheup, J. Gelly, G. Grignon, 1987, Cell and Tissue Research.

Anionin sites of the basement membrane of rat seminiferous tubules during ontogenesis

B. Leheup, J. Gelly, Jean‐Luc Delongeas, 1988, Biology of the cell.