D. Lacombe

发表

Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation.

C Eng, K. Lunetta, O. Olopade, 1998, Human molecular genetics.

Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype

C. Rooryck, D. Lacombe, C. Baumann, 2016, European Journal of Human Genetics.

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

C. Ponting, D. Bonthron, E. Bertini, 2006, Nature Genetics.

Prenatal diagnosis using array-CGH: a French experience.

J. Toutain, C. Rooryck, D. Lacombe, 2013, European journal of medical genetics.

Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia

P. Calvas, N. Chassaing, M. Holder-Espinasse, 2013, American journal of medical genetics. Part A.

Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort

M. Cossée, J. Mandel, A. Verloes, 2005, European Journal of Human Genetics.

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes

Véronique Geoffroy, Claire Redin, Corinne Stoetzel, 2012, Journal of Medical Genetics.

Characterization of Fabry Disease cardiac involvement according to longitudinal strain, cardiometabolic exercise test, and T1 mapping

H. Cochet, C. Rooryck, D. Lacombe, 2020, The International Journal of Cardiovascular Imaging.

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Véronique Geoffroy, Claire Redin, Jean Muller, 2014, Journal of Medical Genetics.

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients

S. Julia, R. Touraine, A. Afenjar, 2016, American journal of medical genetics. Part A.

Phenotype–genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature

E. Bourel-ponchel, C. Rooryck, D. Lacombe, 2015, American journal of medical genetics. Part A.

Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20

A. Munnich, D. Lacombe, F. Giuliano, 2020, European Journal of Human Genetics.

Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome

A. Afenjar, N. Philip, A. Verloes, 2010, Journal of Medical Genetics.

Eight previously unidentified mutations found in the OA1 ocular albinism gene

D. Lacombe, D. Bonneau, H. Dollfus, 2006, BMC Medical Genetics.

Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation

M. Durán, D. Lacombe, J. Sass, 2004, European Journal of Human Genetics.

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

Renzo Guerrini, Patrick Nitschke, Elena Fontana, 2013, Nature Genetics.

Interest of chromosomal microarray analysis in the prenatal diagnosis of fetal intrauterine growth restriction

J. Toutain, P. Pennamen, C. Rooryck, 2018, Prenatal diagnosis.

Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip

C. Petit, F. Denoyelle, V. Drouin‐Garraud, 2007, European Journal of Human Genetics.

Resistance to leptin-replacement therapy in Berardinelli-Seip congenital lipodystrophy: an immunological origin.

G. Sebag, P. Gressens, M. Polak, 2010, European journal of endocrinology.

Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy

S. O’Rahilly, M. Lathrop, A. Mégarbané, 2002, Journal of medical genetics.

AGC1/2, the mitochondrial aspartate-glutamate carriers.

A. De Grassi, D. Lacombe, G. Punzi, 2016, Biochimica et biophysica acta.

SCA27 is a cause of early-onset ataxia and developmental delay.

C. Rooryck, D. Lacombe, C. Goizet, 2015, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

J. Melki, S. Julia, R. Touraine, 2015, European Journal of Human Genetics.

Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.

C. Eng, V. Coulon, B. Duboué, 1998, Journal of medical genetics.

A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndrome

D. Cappellen, J. Toutain, C. Rooryck, 2012, American journal of medical genetics. Part A.

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

A. Hoischen, B. D. de Vries, L. S. Lucas, 2013, Orphanet Journal of Rare Diseases.

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

E. Bertini, C. Garel, R. Touraine, 2012, Orphanet Journal of Rare Diseases.

Tumoral calcinosis due to GALNT3 C.516-2A >T mutation in a black African family.

S. Lepreux, D. Lacombe, B. Arveiler, 2008, Genetic counseling.

Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature

A. Toutain, N. Philip, A. Verloes, 2013, American journal of medical genetics. Part C, Seminars in medical genetics.

Re-focusing on Agnathia-Otocephaly complex

P. Calvas, N. Chassaing, D. Lacombe, 2020, Clinical Oral Investigations.

Identification of Novel Mutations Confirms PDE4D as a Major Gene Causing Acrodysostosis

Lijia Huang, D. Lacombe, F. Bernier, 2013, Human mutation.

Cohen syndrome Authors : Doctors

D. Lacombe, L. P. Lajarín, C. Ballesta, 2004 .

Oculo-dento-digital dysplasia: lack of genotype-phenotype correlation for GJA1 mutations and usefulness of neuro-imaging.

M. Holder-Espinasse, D. Lacombe, D. Bonneau, 2010, European journal of medical genetics.

Wiedemann‐Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases

A. Afenjar, N. Philip, D. Lacombe, 2018, Clinical genetics.

Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome

P. Fergelot, D. Lacombe, B. Arveiler, 2021, African health sciences.

New candidate loci identified by array‐CGH in a cohort of 100 children presenting with syndromic obesity

L. Bouneau, S. Julia, J. Toutain, 2014, American journal of medical genetics. Part A.

C. Depienne, D. Lacombe, C. Chiron, 2011, Epilepsia.

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia

A. Munnich, I. Simonic, S. Mehta, 2012, Journal of Medical Genetics.

SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations

C. Petit, F. Denoyelle, V. Drouin‐Garraud, 2006, European Journal of Human Genetics.

Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity

C. Petit, F. Denoyelle, A. Toutain, 2004, Clinical genetics.

COL4A1 mutation in Axenfeld–Rieger anomaly with leukoencephalopathy and stroke

J. Orgogozo, V. Dousset, P. Calvas, 2007, Annals of neurology.

Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations.

K. Dahan, C. Antignac, D. Lacombe, 2011, Clinical journal of the American Society of Nephrology : CJASN.

Targeting the mitochondrial trifunctional protein restrains tumor growth in oxidative lung carcinomas.

D. Lacombe, H. Bégueret, G. Punzi, 2021, The Journal of clinical investigation.

Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome

D. Lacombe, C. Yardin, V. Guigonis, 2014, Archives of Disease in Childhood.

A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene.

E. Haan, J. Weissenbach, D. Paslier, 1994, Human molecular genetics.

Rheumatologic and neurological events in an elderly patient with tricho-rhino-phalangeal syndrome type I.

D. Lacombe, F. Tison, I. Sibon, 2011, European journal of medical genetics.

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

J. Gécz, A. Green, B. Echenne, 2009, European Journal of Human Genetics.

Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype‐phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys‐Dietz syndrome and related disorders

C. Junien, G. Jondeau, M. Claustres, 2008, Human mutation.

[Clinical signs of Marfan syndrome in children under 10 years of age].

D. Lacombe, M. Delrue, F. Laffargue, 2013, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Screening of ARX in mental retardation families: consequences for the strategy of molecular diagnosis

J. Fryns, B. Gilbert-Dussardier, D. Lacombe, 2006, Neurogenetics.

Ef fi cient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Salima El-Chehadeh, J. Mandel, S. Gras, 2014 .

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients

A. Toutain, Olivier Tassy, D. Lacombe, 2012, European Journal of Human Genetics.

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

R. Lewis, N. Katsanis, E. Chouery, 2006, Nature Genetics.

Socio-Behavioral Characteristics of Children with Rubinstein-Taybi Syndrome

M. Bouvard, D. Lacombe, C. Galéra, 2009, Journal of autism and developmental disorders.

Behavioral and temperamental features of children with Costello syndrome

M. Bouvard, N. Philip, D. Lacombe, 2006, American journal of medical genetics. Part A.

Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.

A. Munnich, R. Touraine, A. Toutain, 2001, American journal of human genetics.

A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family

J. Weissenbach, M. Bitner-Glindzicz, R. Heilig, 1997, Nature Genetics.

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

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

Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth

N. Rahman, S. Huson, S. Mansour, 2007, Nature Genetics.

Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

R. Lewis, N. Katsanis, E. Chouery, 2006, Nature Genetics.

Oro‐dental features as useful diagnostic tool in Rubinstein–Taybi syndrome

D. Lacombe, A. Bloch-Zupan, B. Arveiler, 2007, American journal of medical genetics. Part A.

Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome.

D. Lacombe, S. Aymé, M. Breuning, 1998, American journal of medical genetics.

ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.

C. Garel, C. Depienne, A. Afenjar, 2016, Brain : a journal of neurology.

Cowden disease. Report of a family and review.

D. Lacombe, M. Longy, 1996, Annales de genetique.

Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate

C. Schwartz, S. Lenzner, H. Van Esch, 2005, Journal of Medical Genetics.

Atypical male and female presentations of FLNA-related periventricular nodular heterotopia.

P. Fergelot, C. Marchal, C. Rooryck, 2012, European journal of medical genetics.

Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations

C. Marchal, A. Toutain, N. Philip, 2009, Journal of Neurology, Neurosurgery & Psychiatry.

Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case.

M. Polak, D. Lacombe, S. Romana, 2009, Human molecular genetics.

Treatment needs and expectations for Fabry disease in France: development of a new Patient Needs Questionnaire

A. Hagège, D. Lacombe, B. Dussol, 2019, Orphanet Journal of Rare Diseases.

HRAS germline mutations impair LKB1/AMPK signaling and mitochondrial homeostasis in Costello syndrome models

Y. Hérault, T. Sorg, K. Kissa, 2022, The Journal of clinical investigation.

Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations

B. D. de Vries, P. Fergelot, W. Reardon, 2016, American journal of medical genetics. Part A.

Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet–Biedl syndrome

J. Mandel, D. Lacombe, C. Redin, 2016, Journal of Human Genetics.

Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome

C. Cruaud, D. Lacombe, L. Taine, 2002, Journal of medical genetics.

The diagnosis of Costello syndrome: Nomenclature in Ras/MAPK pathway disorders

J. Allanson, K. Gripp, D. Lacombe, 2008, American journal of medical genetics. Part A.

The male phenotype in osteopathia striata congenita with cranial sclerosis

S. Robertson, R. Nash, M. Porteous, 2011, American journal of medical genetics. Part A.

Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance.

A. Munnich, D. Lacombe, S. Lyonnet, 2002, American journal of medical genetics.

SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism.

C. Rooryck, D. Lacombe, E. Colin, 2014, The Journal of investigative dermatology.

Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation.

D. Lacombe, F. Tison, S. Lyonnet, 2002, Neurology.

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability

C. Depienne, A. Toutain, C. Rooryck, 2017, Jornal de Pediatria.

Metabolic Reprogramming in Amyotrophic Lateral Sclerosis

S. Oliet, S. Chevallier, D. Lacombe, 2018, Scientific Reports.

Brachydactyly type A1 with short humerus and associated skeletal features

S. Mundlos, A. Toutain, C. Rooryck, 2010, American journal of medical genetics. Part A.

Fetal presentation of PHACES syndrome

D. Lacombe, R. Saura, F. Pelluard, 2005, American journal of medical genetics. Part A.

Acrofacial dysostosis 1 , Nager type Author : Professor

J. Opitz, D. Lacombe, 2004 .

Split hand/split foot deformity and LADD syndrome in a family: overlap between the EEC and LADD syndromes.

D. Lacombe, D. Marchand, J. Battin, 1993, Journal of medical genetics.

Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes

A. Verloes, D. Lacombe, A. David, 1999, Journal of medical genetics.

Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome

M. Fichera, C. Romano, N. Philip, 1999, Journal of medical genetics.

A Point Mutation in the XNP Gene, Associated with an ATR-X Phenotype without α-Thalassemia

D. Lacombe, L. Villard, M. Fontès, 1996, European journal of human genetics : EJHG.

Mosaic maternal uniparental isodisomy for chromosome 7q21‐qter

N. Biteau, D. Lacombe, L. Taine, 2006, Clinical genetics.

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

K. Devriendt, G. Scarano, A. Toutain, 2018, Genetics in Medicine.

Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

K. Devriendt, G. Scarano, A. Toutain, 2016, Genetics in Medicine.

Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

R. Pfundt, B. D. de Vries, M. Shinawi, 2021, Genetics in Medicine.

Oral manifestations of patients with Kenny-Caffey Syndrome.

D. Lacombe, A. Dieux, I. Bailleul-Forestier, 2012, European journal of medical genetics.

Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS

F. Denoyelle, A. Toutain, C. Rooryck, 2016, Journal of Medical Genetics.

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.

The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

J. Hardelin, Jacques Young, D. Lacombe, 2014, The Journal of clinical endocrinology and metabolism.

Search for a gene responsible for Floating‐Harbor syndrome on chromosome 12q15q21.1

D. Lacombe, L. Faivre, C. Thauvin-Robinet, 2012, American journal of medical genetics. Part A.

Spectrum of epilepsy in terminal 1p36 deletion syndrome

A. Battaglia, A. Afenjar, A. Verloes, 2008, Epilepsia.

Detection of an intragenic deletion expands the spectrum of CTSC mutations in Papillon-Lefèvre syndrome.

A. Toutain, T. Jouary, D. Lacombe, 2008, The Journal of investigative dermatology.

Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients

D. Lacombe, G. Deschênes, S. Decramer, 2019, Clinical Genetics.

Sphingosine-1-Phosphate Levels Are Higher in Male Patients with Non-Classic Fabry Disease

F. Lamari, D. Lacombe, B. Dussol, 2022, Journal of clinical medicine.

Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophy

C. Rooryck, D. Lacombe, L. Taine, 2004, European Journal of Human Genetics.

Germline mosaicism in Rubinstein-Taybi syndrome.

P. Fergelot, D. Lacombe, B. Arveiler, 2013, Gene.

Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism

E. Blennow, S. Kitsiou‐Tzeli, A. Tsezou, 1998, European Journal of Human Genetics.

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

Albert David, Jean Weissenbach, José-Alain Sahel, 2011, Orphanet journal of rare diseases.

Spectrum of PTCH1 mutations in French patients with Gorlin syndrome.

V. Drouin‐Garraud, D. Lacombe, Y. Bignon, 2003, The Journal of investigative dermatology.

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

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

Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome)

A. Verloes, D. Lacombe, C. Baumann, 2003, European Journal of Pediatrics.

Syndrome d'Angelman et anévrisme intracrânien : association fortuite ou prédisposition génétique commune ?

D. Lacombe, J. Pedespan, J. Chateil, 2005 .

[Angelman syndrome and intracranial aneurysm: fortuitous association or commune genetic predisposition?].

D. Lacombe, J. Pedespan, J. Chateil, 2005, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

LRP5 mutations in osteoporosis-pseudoglioma syndrome and high-bone-mass disorders.

D. Lacombe, M. de Vernejoul, R. Levasseur, 2005, Joint, bone, spine : revue du rhumatisme.

GDNF as a candidate modifier in a type 1 neurofibromatosis (NF1) enteric phenotype

A. Munnich, M. Vidaud, D. Vidaud, 2001, Journal of medical genetics.

The phenotype of Floating–Harbor syndrome in 10 patients

S. Knight, R. Houlston, J. Hurst, 2010, American journal of medical genetics. Part A.

Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication.

P. Fergelot, J. Toutain, C. Rooryck, 2013, Molecular genetics and metabolism.

Novel comprehensive diagnostic strategy in Pitt–Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

A. Afenjar, N. Philip, S. Aftimos, 2012, Human mutation.

Spectrum of NSD1 mutations in Sotos and Weaver syndromes

A. Munnich, D. Lacombe, S. Lyonnet, 2003, Journal of medical genetics.

Genetic osteoarticular diseases under the molecular biology spotlight.

D. Lacombe, 2004, Joint, bone, spine : revue du rhumatisme.

A novel de novo mutation in MYT1, the unique OAVS gene identified so far

C. Rooryck, D. Lacombe, M. I. Melaragno, 2017, European Journal of Human Genetics.

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix–Saguenay

A. Durr, P. Convers, M. Koenig, 2015, Annals of neurology.

Marfanoid features and craniosynostosis: report of one case and review

D. Lacombe, J. Battin, 1993, Clinical dysmorphology.

Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients

D. Lacombe, G. Deschênes, S. Decramer, 2019, Clinical genetics.

Non-specific gastrointestinal features: Could it be Fabry disease?

A. Gasbarrini, E. Arbustini, D. Lacombe, 2018, Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver.

Azoospermia as a new feature of Fabry disease.

D. Lacombe, F. Bauduer, A. Papaxanthos-Roche, 2007, Fertility and sterility.

Reduced Placental Telomere Length during Pregnancies Complicated by Intrauterine Growth Restriction

D. Cappellen, J. Toutain, D. Lacombe, 2013, PloS one.

Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco

J. McGrath, D. Lacombe, F. Boralevi, 2008, American journal of medical genetics. Part A.

Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease

F. Lamari, D. Lacombe, B. Dussol, 2020, PloS one.

Evaluation of the template letter regarding the disclosure of genetic information within the family in France

D. Lacombe, L. Pasquier, N. Taris, 2019, Journal of Community Genetics.

The phenotype of floating-harbor syndrome

A. Hoischen, L. S. Lucas, J. Allanson, 2016 .

Rubinstein–Taybi syndrome and Hirschsprung disease in a patient harboring an intragenic deletion of the CREBBP gene

P. Fergelot, D. Lacombe, J. Mosnier, 2010, American journal of medical genetics. Part A.

Tandem duplication within the neurofibromatosis type 1 gene (NF1) and reciprocal t(15;16)(q26.3;q12.1) translocation in familial association of NF1 with intestinal neuronal dysplasia type B (IND B)

M. Vidaud, I. Laurendeau, D. Vidaud, 2000, Journal of medical genetics.

Typical facial gestalt in X‐linked Kabuki syndrome

I. Touitou, D. Lacombe, S. Moutton, 2016, American journal of medical genetics. Part A.

Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials

R. Touraine, A. Toutain, N. Chassaing, 2021, Clinical genetics.

Identification of 23 TGFBR 2 and 6 TGFBR 1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II , Loeys-Dietz syndrome and related disorders

C. Junien, G. Jondeau, M. Claustres, 2019 .

Recommendations for the inclusion of Fabry disease as a rare febrile condition in existing algorithms for fever of unknown origin

A. Gasbarrini, G. Gambaro, S. Feriozzi, 2017, Internal and Emergency Medicine.

Townes-Brocks syndrome in an infant with translocation t (5;16).

D. Lacombe, R. Saura, C. Billeaud, 1993, Genetic counseling.

New insights into genotype–phenotype correlation for GLI3 mutations

A. Munnich, A. Mégarbané, A. Afenjar, 2014, European Journal of Human Genetics.

Delineation of EFTUD2 Haploinsufficiency‐Related Phenotypes Through a Series of 36 Patients

A. Munnich, N. Baena, A. Verloes, 2014, Human mutation.

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.

Medulloblastoma in the nevoid basal-cell carcinoma syndrome: case reports and review of the literature.

D. Lacombe, J. Chateil, D. Fontan, 1990, Genetic counseling.

Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients

N. Drouot, A. Boland, D. Lacombe, 2022, Human mutation.

Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia

A. Toutain, P. Calvas, N. Chassaing, 2014, Clinical genetics.

Fetal phenotypes in otopalatodigital spectrum disorders

P. Fergelot, J. Melki, A. Verloes, 2016, Clinical genetics.

CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder

Madeline A. Lancaster, P. Fergelot, F. Miozzo, 2022, Nature Communications.

Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review.

R. Hennekam, J. Allanson, D. Lacombe, 2002, American journal of medical genetics.

Syndrome de Costello : aspects cliniques et risque tumoral

D. Lacombe, B. Arveiler, M. Delrue, 2002 .

SMAD4 germinal mosaicism in a family with juvenile polyposis and hypertrophic osteoarthropathy.

C. Rooryck, B. le Bail, D. Lacombe, 2005, Journal of pediatric gastroenterology and nutrition.

CHN1 and Duane retraction syndrome: expanding the phenotype to cranial nerves development disease.

D. Lacombe, E. Lasseaux, B. Arveiler, 2021, European journal of medical genetics.

Confirmation and Expansion of the Phenotype Associated with the Recurrent p.Val837Met Variant in TRPM3

D. Lacombe, E. Lasseaux, B. Arveiler, 2020 .

Further delineation of the phenotype caused by biallelic variants in the WDR4 gene

C. Rooryck, D. Lacombe, E. Lasseaux, 2018, Clinical genetics.

C5orf42 is the major gene responsible for OFD syndrome type VI

H. Kayserili, J. Rivière, D. Lacombe, 2014, Human Genetics.

Evaluation of Motor Skills in Children with Rubinstein–Taybi Syndrome

J. Cazalets, P. Fergelot, M. Bouvard, 2017, Journal of Autism and Developmental Disorders.

Neonatal Proteus syndrome?

D. Lacombe, A. Mohamedbhai, A. M. Hassan Miyan, 1993, American journal of medical genetics.

Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease

C. Rooryck, D. Lacombe, Angèle Tingaud-Sequeira, 2022, Journal of Medical Genetics.

Miikka Vikkula, Laurence M. Boon, Andrea Superti-Furga, 2001, Cell.

Understanding the challenges, unmet needs, and expectations of mucopolysaccharidoses I, II and VI patients and their caregivers in France: a survey study

D. Lacombe, R. Jaussaud, N. Belmatoug, 2022, Orphanet journal of rare diseases.

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

A. Green, D. Bonthron, E. Bertini, 2007, American journal of human genetics.

A second locus for Aicardi-Goutières syndrome at chromosome 13q14–21

L. Lagae, H. Brunner, Y. Crow, 2005, Journal of Medical Genetics.

Effects of eight neuropsychiatric copy number variants on human brain structure

Allison G. Dempsey, M. Owen, R. Buckner, 2021, Translational Psychiatry.

Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease.

P. Tam, A. Munnich, D. Lacombe, 1996, Human molecular genetics.

Menkes disease: study of the mitochondrial respiratory chain in three cases.

J. Mazat, D. Lacombe, T. Letellier, 1999, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Cutaneous epidermal cysts as a presentation of gorlin syndrome.

N. Sevenet, T. Jouary, D. Lacombe, 2009, Archives of dermatology.

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.

Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, Jacek Majewski, 2012, American journal of human genetics.

Overlap between the Bazex syndrome and congenital hypotrichosis and milia.

D. Lacombe, A. Taïeb, 1995, American journal of medical genetics.

Congenital hypotrichosis and milia: report of a large family suggesting X-linked dominant inheritance.

D. Lacombe, A. Taïeb, R. Rapelanoro, 1994, American journal of medical genetics.

A survey of ocular tumors in Down syndrome alone or associated with another genetic affection

D. Lacombe, M. Vekemans, M. Rethoré, 2006 .

[Erythromelalgia: a familial case. Discussion on the role of mercury].

D. Lacombe, A. Taïeb, J. Maleville, 1994, Annales de dermatologie et de venereologie.

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.

First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients

L. Bouneau, P. Calvas, N. Chassaing, 2022, Clinical genetics.

Keratoconus associated with Williams–Beuren syndrome: First case reports

D. Lacombe, J. Colin, D. Touboul, 2010, Ophthalmic genetics.

Combination of WAGR and Potocki–Shaffer contiguous deletion syndromes in a patient with an 11p11.2–p14 deletion

J. Crolla, A. Verloes, D. Lacombe, 2005, European Journal of Human Genetics.

Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients

N. Boddaert, S. Pannier, D. Lacombe, 2022, Bone Marrow Transplantation.

Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network

N. Katsanis, P. Calvas, N. Chassaing, 2016, Genome research.

Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress.

D. Lacombe, L. Pasquier, L. Loeuillet, 2009, European journal of medical genetics.

Coffin-Lowry syndrome (CLS)

D. Lacombe, A. Hanauer, 2005 .

The gene for Bazex-Dupré-Christol syndrome maps to chromosome Xq.

G. Aubert, D. Lacombe, Pierre Vabres, 1995, The Journal of investigative dermatology.

Dopachrome tautomerase variants in patients with oculocutaneous albinism

I. Jackson, P. Pennamen, D. Lacombe, 2020, Genetics in Medicine.

Mutations in &ggr;-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa

A. Tafazzoli, B. Odermatt, D. Lacombe, 2017, The Journal of clinical investigation.

Genetic basis of oculocutaneous albinism

C. Rooryck, D. Lacombe, B. Arveiler, 2009 .

BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome

P. Pennamen, M. Marks, D. Lacombe, 2020, Genetics in Medicine.

Molecular characterization of a series of 990 index patients with albinism

P. Pennamen, C. Rooryck, D. Lacombe, 2018, Pigment cell & melanoma research.

Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1–4 genes and practical aspects

C. Rooryck, D. Lacombe, B. Arveiler, 2008, Pigment cell & melanoma research.

Identification of a homozygous mutation of SLC24A5 (OCA6) in two patients with oculocutaneous albinism from French Guiana

C. Rooryck, D. Lacombe, P. Couppié, 2016, Pigment cell & melanoma research.

High‐resolution array‐CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene

B. Gilbert-Dussardier, J. Toutain, C. Rooryck, 2014, Pigment cell & melanoma research.

High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients

C. Rooryck, D. Lacombe, H. Dollfus, 2010, Human Genetics.

Clinico‐molecular analysis of eleven patients with Hermansky–Pudlak type 5 syndrome, a mild form of HPS

P. Fergelot, P. Jouk, A. Verloes, 2017, Pigment cell & melanoma research.

Osteoporosis in late-diagnosed adult homocystinuric patients

H. Gin, D. Lacombe, I. Redonnet-Vernhet, 2000, Journal of Inherited Metabolic Disease.

No evidence for linkage to the type 1 or type 2 neurofibromatosis loci in Noonan syndrome families.

A. Munnich, D. Lacombe, S. Lyonnet, 1993, American journal of medical genetics.

Perrault syndrome: Report of four new cases, review and exclusion of candidate genes

F. Denoyelle, D. Lacombe, D. Bonneau, 2008, American journal of medical genetics. Part A.

A patient with hydranencephaly and PEHO-like dysmorphic features.

D. Lacombe, J. Pedespan, C. Goizet, 2003, Annales de genetique.

Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease

D. Lacombe, B. Knebelmann, E. Hachulla, 2021, Clinical genetics.

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

A. Munnich, C. Fallet-Bianco, I. Gut, 2021, Journal of Medical Genetics.

Mutations in SNRPB, Encoding Components of the Core Splicing Machinery, Cause Cerebro‐Costo‐Mandibular Syndrome

A. Munnich, P. Nitschké, D. Lacombe, 2015, Human mutation.

Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients

S. Julia, J. Rivière, A. Verloes, 2018, Journal of Medical Genetics.

Case with autistic syndrome and chromosome 22q13.3 deletion detected by FISH.

M. Bouvard, D. Lacombe, L. Taine, 2000, American journal of medical genetics.

Novel KDM5B splice variants identified in patients with developmental disorders: Functional consequences.

P. Billuart, D. Lacombe, N. Lebrun, 2018, Gene.

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.

J. Rosenfeld, S. Spence, D. Ledbetter, 2016, JAMA psychiatry.

SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort

A. Afenjar, E. Pasmant, M. Vidaud, 2016, Journal of Medical Genetics.

Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4.

C. Cremers, M. Bitner-Glindzicz, H. Brunner, 1996, Human molecular genetics.

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.

Contribution of PTEN large rearrangements in Cowden disease: a multiplex amplifiable probe hybridisation (MAPH) screening approach

F. Chibon, L. Mauriac, J. Bressieux, 2008, Journal of Medical Genetics.

Mitochondrial functions and rare diseases.

D. Lacombe, R. Rossignol, C. Hubert, 2020, Molecular aspects of medicine.

Growth charts in Kabuki syndrome 1

A. Toutain, N. Philip, B. Gilbert-Dussardier, 2019, American Journal of Medical Genetics. Part A.

Mutations in SETD2 cause a novel overgrowth condition

R. Touraine, E. Pasmant, M. Vidaud, 2014, Journal of Medical Genetics.

Lujan-Fryns syndrome (X-linked mental retardation with marfanoid habitus): report of three cases and review.

L. Koulischer, A. Verloes, D. Lacombe, 1993, Genetic counseling.

Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome

A. Munnich, G. Meroni, D. Lacombe, 2004, Journal of Medical Genetics.

A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia.

N. Chassaing, B. Gilbert-Dussardier, C. Rooryck, 2010, Human molecular 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.

Limb body wall complex and amniotic band sequence in sibs

D. Lacombe, Y. Rougier, R. Levy, 2007, American journal of medical genetics. Part A.

Transcription factors in dysmorphology

D. Lacombe, 1999, Clinical genetics.

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X‐Linked Kabuki Syndrome Subtype 2

T. Meitinger, T. Strom, D. Wieczorek, 2016, Human mutation.

Further delineation of Kabuki syndrome in 48 well‐defined new individuals

Marc S. Williams, E. Zackai, R. Hennekam, 2005, American journal of medical genetics. Part A.

CREBBP mutations in individuals without Rubinstein–Taybi syndrome phenotype

R. Pfundt, H. Peeters, D. Horn, 2016, American journal of medical genetics. Part A.

Ondine-Hirschsprung syndrome (Haddad syndrome). Further delineation in two cases and review of the literature.

A. Verloes, D. Lacombe, A. Moncla, 1993, European journal of pediatrics.

REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho‐functional dysfunction

A. Durr, D. Hannequin, S. Forlani, 2011, Human mutation.

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.

G. Gyapay, A. Durr, F. Lamari, 2012, American journal of human genetics.

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.

RAS signalling in energy metabolism and rare human diseases.

D. Lacombe, R. Rossignol, N. Bellance, 2018, Biochimica et biophysica acta. Bioenergetics.

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

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

Four-year follow-up of diagnostic service in USH1 patients.

B. Gilbert-Dussardier, M. Claustres, D. Lacombe, 2011, Investigative ophthalmology & visual science.

Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome.

Patricia Fergelot, Paquita Nurden, William Vainchenker, 2011, Blood.

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

R. Touraine, A. Afenjar, A. Toutain, 2019, Journal of Medical Genetics.

Redox mechanism of levobupivacaine cytostatic effect on human prostate cancer cells

D. Lacombe, P. Pourquier, R. Rossignol, 2018, Redox biology.

Apport des puces à ADN et nouveaux syndromes microdélétionnels: DNA microarrays and new microdeletion syndromes

D. Lacombe, Caroline Rooryck-Thambo, 2018 .

19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference

P. Fergelot, P. Gasparini, S. Mansour, 2017, European Journal of Human Genetics.

Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations

N. Boddaert, A. Toutain, M. Picot, 2017, Clinical Genetics.

Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome

A. Afenjar, V. Drouin‐Garraud, T. Frebourg, 2007, Human mutation.

A framework to identify contributing genes in patients with Phelan-McDermid syndrome

T. Bourgeron, R. Delorme, T. Rolland, 2017, npj Genomic Medicine.

A framework to identify modifier genes in patients with Phelan-McDermid syndrome

T. Bourgeron, R. Delorme, T. Rolland, 2017, bioRxiv.

Atypical hematologic and renal manifestations in neurofibromatosis type I: coincidence or pathophysiological link?

D. Vidaud, D. Lacombe, C. Goizet, 2014, European journal of medical genetics.

CHARGE syndrome: report of 47 cases and review.

J L Michel, A. Munnich, N. Philip, 1998, American journal of medical genetics.

A framework to identify contributing genes in patients with Phelan-McDermid syndrome

T. Bourgeron, R. Delorme, T. Rolland, 2017, npj Genomic Medicine.

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

C. Garel, A. Afenjar, A. Toutain, 2018, Genetics in Medicine.

[Unusual form of Noonan syndrome: neonatal multi-organ involvement with chylothorax and nevoid Cutis verticis gyrata].

D. Lacombe, A. Taïeb, M. Fayon, 1993, Pediatrie.

Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH.

J. Veltman, J. Vermeesch, I. Janssen, 2003, American journal of human genetics.

Defining the Effect of the 16 p 11 . 2 Duplication on Cognition , Behavior , andMedical Comorbidities

J. Rosenfeld, S. Spence, D. Ledbetter, 2015 .

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.

Progressive osseous heteroplasia: a model for the imprinting effects of GNAS inactivating mutations in humans.

G. Pinto, D. Lacombe, J. Salles, 2010, The Journal of clinical endocrinology and metabolism.

CBP/EP300-dependent acetylation and stabilization of HSF2 are compromised in the rare disorder, Rubinstein-Taybi syndrome

Madeline A. Lancaster, P. Fergelot, F. Miozzo, 2018, bioRxiv.

A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum

C. Rooryck, D. Lacombe, Angèle Tingaud-Sequeira, 2021, Human Genetics.

2.3 Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate gene.

C. Rooryck, D. Lacombe, D. Simon, 2009, European journal of medical genetics.

Ubiquitin-Dependent Degradation of Mitochondrial Proteins Regulates Energy Metabolism.

D. Lacombe, Jean-William Dupuy, C. Lalou, 2018, Cell reports.

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

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

A 22-year French Experience with Solid Tumors in Children with Down Syndrome

A. Sasco, A. Chompret, D. Lacombe, 2003, Pediatric hematology and oncology.

Neurofibromatosis type 1 with undescribed osseous abnormalities: new features?

D. Vidaud, D. Lacombe, A. Leruste, 2009, Clinical dysmorphology.

Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia

D. Horn, S. Mundlos, M. Spielmann, 2016, European Journal of Human Genetics.

Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome.

T. van Amelsvoort, D. Campion, D. Hannequin, 2007, Human molecular genetics.

Costello syndrome and neurological abnormalities

D. Lacombe, B. Arveiler, J. Chateil, 2003, American journal of medical genetics. Part A.

Clinical Report Costello Syndrome and Neurological Abnormalities

D. Lacombe, B. Arveiler, M. Delrue, 2003 .

Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency

J. Casanova, C. Picard, S. Tangye, 2017, The Journal of clinical investigation.

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

R. Touraine, C. Chiaverini, J. Rivière, 2017, Genetics in Medicine.

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

M. Shaw, N. de Leeuw, J. Gécz, 2020, American journal of human genetics.

Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis

C. Thaller, S. Robertson, R. Hennekam, 2009, Nature Genetics.

Ubiquitin-dependent degradation of mitochondrial proteins regulates energy metabolism

D. Lacombe, Jean-William Dupuy, C. Lalou, 2018, Biochimica et Biophysica Acta (BBA) - Bioenergetics.

The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience

R. Hennekam, D. Lacombe, S. Douzgou, 2022, European Journal of Human Genetics.

Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder

P. Fergelot, F. Magdinier, D. Lacombe, 2021, Genes.

Analysis of CBP (CREBBP) gene deletions in Rubinstein‐Taybi syndrome patients using real‐time quantitative PCR

D. Lacombe, L. Monnet, L. Taine, 2004, Human mutation.

Cancer Prone Disease Section

D. Lacombe, Génétique Médicale-Hôpital Pellegrin-Enfants, 2001 .

Confirmation of assignment of a locus for Rubinstein-Taybi syndrome gene to 16p13.3.

D. Lacombe, L. Taine, R. Saura, 1992, American journal of medical genetics.

Association of external auditory canal atresia, vertical talus, and hypertelorism: confirmation of Rasmussen syndrome.

S. Julia, D. Lacombe, J. Pedespan, 2002, American journal of medical genetics.

Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome

K. Dahan, R. Salomon, O. Gribouval, 2018, Pediatric Nephrology.

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

J. Gécz, A. Green, B. Echenne, 2009, European Journal of Human Genetics.

High glucose repatterns human podocyte energy metabolism during differentiation and diabetic nephropathy

D. Lacombe, C. Combe, R. Rossignol, 2016, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Deletion in 2q35 excluding the IHH gene leads to fetal severe limb anomalies and suggests a disruption of chromatin architecture

P. Fergelot, P. Pennamen, C. Rooryck, 2018, European Journal of Human Genetics.

An unusual chromosome 22q11 deletion associated with an apparent complementary ring chromosome in a phenotypically normal woman.

J. Toutain, D. Lacombe, L. Taine, 2011, European 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.

Doxorubicin Inhibits Phosphatidylserine Decarboxylase and Modifies Mitochondrial Membrane Composition in HeLa Cells

D. Lacombe, P. Moreau, R. Rossignol, 2020, International journal of molecular sciences.

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.

Comparison of Clinical Presentations and Outcomes Between Patients With TGFBR2 and FBN1 Mutations in Marfan Syndrome and Related Disorders

P. Ravaud, C. Béroud, G. Jondeau, 2009, Circulation.

Increased paternal age in CHARGE association

A. Munnich, N. Philip, D. Lacombe, 1996, Clinical genetics.

Familial occurrence of hereditary renal adysplasia with Müllerian anomalies

D. Lacombe, J. Leng, J. Battin, 1993, Clinical Genetics.

Axenfeld-Rieger anomaly: a novel mutation in the forkhead box C1 (FOXC1) gene in a 4-generation family.

J. Morissette, D. Lacombe, D. Bonneau, 2004, Archives of ophthalmology.

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

D. Zélénika, P. Nitschké, D. Lacombe, 2013, Nature Genetics.

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

Dian Donnai, Graeme C.M. Black, Nicolas Chassaing, 2007, Nature Genetics.

Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parents

J. Toutain, C. Rooryck, D. Lacombe, 2015, American journal of medical genetics. Part A.

Evidence of postzygotic mosaicism in a transmitted form of Conradi-Hunermann-Happle syndrome associated with a novel EBP mutation.

D. Lacombe, C. Wolf, A. Taïeb, 2011, Archives of dermatology.

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

Michael T. Zimmermann, Nikita R. Dsouza, S. Antonarakis, 2020, Journal of Medical Genetics.

Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing

J. Melki, N. Philip, Salima El-Chehadeh, 2019, European Journal of Human Genetics.

Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation

A. Toutain, M. Mattei, Y. Hauck, 2001, Journal of medical genetics.

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

M. Shaw, N. de Leeuw, J. Gécz, 2021, American journal of human genetics.

Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation

Martijn A. R. Leisink, W. Reardon, J. Veltman, 2005, European Journal of Human Genetics.

Syndrome de Smith-Magenis

M. Mattei, D. Lacombe, A. Moncla, 1997 .

Schizencephaly: clinical and imaging features in 30 infantile cases

Delphine Denis, D. Lacombe, J. Pedespan, 2000, Brain and Development.

Toriello-Carey syndrome: evidence for X-linked inheritance.

D. Lacombe, L. Weiss, P. Czarnecki, 1996, American journal of medical genetics.

New case of Toriello-Carey syndrome.

D. Lacombe, J. Battin, G. Creusot, 1992, American journal of medical genetics.

Facial palsy and cranial nerve abnormalities in CHARGE association.

D. Lacombe, 1994, American journal of medical 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.

Albinism in a patient with mutations at both the OA1 and OCA3 loci

D. Lipsker, C. Rooryck, D. Lacombe, 2016, Pigment cell & melanoma research.

Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures

B. V. van Bon, B. D. de Vries, A. Toutain, 2012, American journal of medical genetics. Part A.

Characterization of a de novo balanced translocation t(9;18)(p23;q12.2) in a patient with oculoauriculovertebral spectrum.

C. Rooryck, D. Lacombe, L. Taine, 2010, European journal of medical genetics.

Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome.

D. Lacombe, L. Pasquier, M. Gonzalès, 2013, European journal of medical genetics.

De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy

R. Pfundt, B. D. de Vries, C. Gilissen, 2019, Genetics in Medicine.

Deletion submicroscopique du chromosome 16p13.3: etude d'une serie de patients francais porteurs du syndrome de rubinstein-taybi

D. Lacombe, M. Breuning, C. Goizet, 1997 .

[Rubinstein-Taybi syndrome].

D. Lacombe, 1994, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Smith‐Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort

N. Philip, A. Verloes, D. Lacombe, 2020, Clinical genetics.

A novel mutation in the fatty acid transport protein 4 gene in a patient initially described as affected by self‐healing congenital verruciform hyperkeratosis

D. Lacombe, F. Boralevi, J. Fischer, 2010, American journal of medical genetics. Part A.

Blepharophimosis, ptosis, epicanthus inversus syndrome with translocation and deletion at chromosome 3q23 in a black African female.

C. Hans, C. Rooryck, D. Lacombe, 2012, European journal of medical genetics.

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.

Craniofacial dysmorphology and three‐dimensional ultrasound: a prospective study on practicability for prenatal diagnosis

F. Guyon, D. Lacombe, R. Saura, 2003, Prenatal diagnosis.

Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4.

N. Boddaert, F. Brunelle, D. Lacombe, 2012, Brain : a journal of neurology.

Costello syndrome: report of six patients including one with an embryonal rhabdomyosarcoma

N. Philip, D. Lacombe, A. Moncla, 2000, European Journal of Pediatrics.

Collaborative study of mosaic tetrasomy 12p or Pallister-Killian syndrome (nineteen fetuses or children).

M. Pelissier, C. Turc‐Carel, D. Lacombe, 1997, Annales de genetique.

Spectrum of CREBBP gene dosage anomalies in Rubinstein–Taybi Syndrome patients

D. Lacombe, D. Simon, B. Arveiler, 2007, European Journal of Human Genetics.

Oculo-ectodermal syndrome: a new tumour predisposition syndrome

D. Lacombe, J. Chateil, F. Siberchicot, 2004, Clinical dysmorphology.

Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination

A. Laquérriere, C. Rooryck, M. Martin-Négrier, 2020, Acta Neuropathologica Communications.

Management of Children with Intellectual and Developmental Disability in an African Setting

D. Lacombe, B. Ayivi, M. Alao, 2012 .

Statistical Analysis of Mitochondrial Pathologies in Childhood: Identification of Deficiencies Using Principal Component Analysis

J. Antoch, J. Mazat, D. Lacombe, 2000, Laboratory Investigation.

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

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

The E3 ubiquitin ligase FBXL6 controls the quality of newly synthesized mitochondrial ribosomal proteins

D. Lacombe, A. Duchêne, W. Mahfouf, 2022, bioRxiv.

Metabolic Reprogramming in Amyotrophic Lateral Sclerosis

S. Oliet, S. Chevallier, D. Lacombe, 2018, Scientific Reports.

PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1

P. Fergelot, P. Pennamen, C. Rooryck, 2019, American journal of medical genetics. Part A.

Townes‐Brocks syndrome: Detection of a SALL1 mutation hot spot and evidence for a position effect in one patient

E. Calzolari, C. Petit, S. Blanchard, 1999, Human mutation.

[Genetic aspects of mucopolysaccharidoses].

D. Lacombe, D. Germain, Didier Lacombe, 2014, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Proteomic Study of Low-Birth-Weight Nephropathy in Rats

D. Lacombe, R. Rossignol, S. Claverol, 2021, International journal of molecular sciences.

Clinical and molecular spectrum of renal malformations in Kabuki syndrome.

A. Toutain, N. Philip, R. Salomon, 2013, The Journal of pediatrics.

Germinal mosaicism in oculo-auriculo-vertebral dysplasia?

D. Lacombe, J. Battin, 1993, American journal of medical genetics.

Cutaneous Manifestations in Costello and Cardiofaciocutaneous Syndrome: Report of 18 Cases and Literature Review

P. Fergelot, D. Lacombe, F. Boralevi, 2013, Pediatric dermatology.

Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth

A. Munnich, J. Soulier, D. Lacombe, 2010, European Journal of Human Genetics.

Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome.

N. Philip, A. Verloes, C. Lejeune, 2020, European journal of medical genetics.

Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

B. V. van Bon, A. Hoischen, K. Devriendt, 2014, European Journal of Human Genetics.

Semen and male genital tract characteristics of patients with Fabry disease: the FERTIFABRY multicentre observational study

D. Lacombe, C. Patrat, M. Albert, 2019, Basic and Clinical Andrology.

Confirmation of Atypical Presentation With Nonprogressive Leukodystrophy in eIF2B-Related Disorders.

D. Lacombe, O. Boespflug-Tanguy, J. Pedespan, 2019, Pediatric neurology.

18p monosomy with midline defects and a de novo satellite identified by FISH.

D. Lacombe, L. Taine, C. Goizet, 1997, Annales de genetique.

Finger creases lend a hand in Kabuki syndrome.

A. Toutain, N. Philip, B. Gilbert-Dussardier, 2013, European journal of medical genetics.

Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC

C. Möller, M. Koenig, D. Lacombe, 2017, Neurobiology of Disease.

Rubinstein–Taybi syndrome (CREBBP, EP300)

R. Hennekam, D. Lacombe, D. Peters, 2011, European Journal of Human Genetics.

Testing and improving experimental parameters for the use of low molecular weight targets in array‐CGH experiments

Isabelle Guisle, D. Lacombe, D. Simon, 2006, Human mutation.

The Basques: Review of Population Genetics and Mendelian Disorders

D. Lacombe, F. Bauduer, J. Feingold, 2005, Human biology.

9th international workshop on fragile X syndrome and X-linked mental retardation.

G. Ramakers, D. Nelson, C. Schwartz, 2000, American journal of medical genetics.

Hallerman-Streiff-like syndrome presenting with laterality and cardiac defects.

F. Denoyelle, C. Rooryck, D. Lacombe, 2009, Clinical dysmorphology.

Isolated macrodactyly and Proteus syndrome.

D. Lacombe, J. Battin, 1996, Clinical dysmorphology.

New clinico‐genetic classification of trichothiodystrophy

D. Lacombe, M. Cario-André, H. Rezvani, 2009, American journal of medical genetics. Part A.

Factor V Leiden, prothrombin 20210A, methylenetetrahydrofolate reductase 677T, and population genetics.

D. Lacombe, F. Bauduer, 2005, Molecular genetics and metabolism.

Neurologic aspects of MECP2 gene duplication in male patients.

B. Echenne, H. van Bokhoven, B. Hamel, 2009, Pediatric neurology.

TARGETING HUMAN LUNG ADENOCARCINOMA WITH A SUPPRESSOR OF MITOCHONDRIAL SUPEROXIDE PRODUCTION.

D. Lacombe, B. Rousseau, R. Rossignol, 2020, Antioxidants & redox signaling.

Nuclear control of lung cancer cells migration, invasion and bioenergetics by eukaryotic translation initiation factor 3F

D. Lacombe, B. Rousseau, R. Rossignol, 2019, Oncogene.

An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature

A. Munnich, F. Denoyelle, D. Lacombe, 2016, Human mutation.

Obesity: a new feature of WAGR (del 11p) syndrome.

D. Lacombe, D. Bonneau, S. Marlin, 1994, Clinical dysmorphology.

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.

Trisomy 22 with thyroid isthmus agenesis and absent gall bladder.

D. Lacombe, L. Taine, R. Saura, 2004, Genetic Counseling.

Bardet-Biedl Syndrome and Brain Abnormalities

A. Verloes, C. Rooryck, D. Lacombe, 2007, Neuropediatrics.

Lung tumor growth promotion by tobacco-specific nitrosamines involves the β2-adrenergic receptors-dependent stimulation of mitochondrial REDOX signaling.

D. Lacombe, B. Rousseau, C. Frezza, 2021, Antioxidants & redox signaling.

Adaptative capacity of mitochondrial biogenesis and of mitochondrial dynamics in response to pathogenic respiratory chain dysfunction.

P. Berger, D. Lacombe, C. Rocher, 2013, Antioxidants & redox signaling.

Blepharophimosis‐mental retardation (BMR) syndromes: A proposed clinical classification of the so‐called Ohdo syndrome, and delineation of two new BMR syndromes, one X‐linked and one autosomal recessive

Y. Gillerot, H. Brunner, A. Verloes, 2006, American journal of medical genetics. Part A.

Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt

S. Julia, A. Afenjar, A. Toutain, 2021, European Journal of Human Genetics.

Adult onset tubulo‐interstitial nephropathy in MT‐ND5‐related phenotypes

M. Martin-Négrier, D. Lacombe, C. Combe, 2019, Clinical genetics.

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.

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.

CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum

C. Nellåker, F. Alkuraya, D. Lacombe, 2021, Clinical genetics.

Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation

A. Durr, A. Brice, G. Stevanin, 2016, Human molecular genetics.

Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS

C. Rooryck, D. Lacombe, Angèle Tingaud-Sequeira, 2020, Molecular genetics & genomic medicine.

Prenatal retinoic acid exposure reveals candidate genes for craniofacial disorders

C. Rooryck, D. Lacombe, S. Claverol, 2018, Scientific Reports.

Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY

F. Lamari, D. Lacombe, E. Hachulla, 2018, Orphanet Journal of Rare Diseases.

Abdominal lymphatic dysplasia and 22q11 microdeletion.

B. le Bail, D. Lacombe, L. Taine, 1999, Genetic counseling.

[Bardet-Biedl syndrome].

C. Rooryck, D. Lacombe, 2008, Annales d'endocrinologie.

Metabolic Correction Induced by Leptin Replacement Treatment in Young Children With Berardinelli-Seip Congenital Lipoatrophy

G. Sebag, M. Polak, C. Levy-marchal, 2007, Pediatrics.

CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56

A. Durr, F. Rivier, G. Stevanin, 2018, Human mutation.

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

C. Garel, A. Afenjar, A. Toutain, 2018, Genetics in Medicine.

Clinical and Molecular Spectrum of Nonsyndromic Early‐Onset Osteoarthritis

A. Fabre, M. Barat‐Houari, I. Touitou, 2020, Arthritis & rheumatology.

A case of trisomy 12 mosaicism with pituitary malformation and polycystic ovary syndrome.

D. Lacombe, M. Tauber, C. Pienkowski, 2006, Genetic counseling.

Neonatal Noonan syndrome with a molluscoid cutaneous excess over the scalp.

D. Lacombe, A. Taieb, P. Masson, 1991, Genetic counseling.

Re-focusing on Agnathia-Otocephaly complex

P. Calvas, N. Chassaing, D. Lacombe, 2020, Clinical Oral Investigations.

Prevalence of mutations in AGPAT2 among human lipodystrophies.

M. Lathrop, P. Czernichow, C. Vigouroux, 2003, Diabetes.

Expansion and methylation status at FRAXE can be detected on EcoRI blots used for FRAXA diagnosis: analysis of four FRAXE families with mild mental retardation in males.

S. Knight, C. Stoll, J. Mandel, 1996, American journal of human genetics.

Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome

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

Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio‐type poikiloderma with neutropenia

J. McGrath, D. Lacombe, A. Taïeb, 2010, American journal of medical genetics. Part A.

19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference

P. Fergelot, P. Gasparini, S. Mansour, 2017, European Journal of Human Genetics.

[CHARGE association: paralysis or facial asymmetry?].

D. Lacombe, J. Sarlangue, 1990, Pediatrie.

Psychomotor, cognitive, and socio-emotional developmental profiles of children with Rubinstein-Taybi Syndrome and a severe intellectual disability

P. Fergelot, D. Lacombe, J. Adrien, 2020 .

The importance of functional tests to assess the effect of a new CFTR variant when genotype–phenotype correlation is not possible

P. Fergelot, D. Lacombe, I. Callebaut, 2017, Clinical case reports.

8 The importance of functional tests to assess the effect of a new CFTR variant when genotype-phenotype correlation is not possible

P. Fergelot, D. Lacombe, E. Girodon, 2016 .

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

D. Zélénika, P. Nitschké, D. Lacombe, 2013, Nature Genetics.

A comparative study of cognitive and socio-emotional development in children with Rubinstein-Taybi syndrome and children with Autism Spectrum Disorder associated with a severe intellectual disability, and in young typically developing children with matched developmental ages.

C. Barthélémy, K. Kaye, D. Lacombe, 2021, Research in developmental disabilities.

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.

Evaluation of Motor Skills in Children with Rubinstein–Taybi Syndrome

J. Cazalets, P. Fergelot, M. Bouvard, 2017, Journal of autism and developmental disorders.

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia.

A. Munnich, N. Katsanis, P. Ernfors, 2015, American journal of human genetics.

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum

P. Fergelot, A. Mégarbané, N. Chassaing, 2016, Journal of Human Genetics.

Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations

P. Fergelot, J. Toutain, D. Lacombe, 2018, Clinical genetics.

A review of malignancies in fragile X syndrome and report of an Ewing sarcoma

B. Bui, D. Lacombe, M. Vekemans, 2008 .

A novel FTL mutation responsible for neuroferritinopathy with asymmetric clinical features and brain anomalies.

P. Fergelot, P. Brugières, D. Lacombe, 2014, Parkinsonism & Related Disorders.

First female prenatal case of osteopathia striata with cranial sclerosis in a fetus carrying a de-novo 1.9 Mbp interstitial deletion at Xq11.1q11.2.

J. Toutain, C. Rooryck, D. Lacombe, 2017, Clinical dysmorphology.

TheMalePhenotypeinOsteopathiaStriataCongenita With Cranial Sclerosis

S. Robertson, R. Nash, S. Mansour, 2011 .

Severe linear form of granuloma annulare along Blaschko’s lines preceding the onset of a classical form of granuloma annulare in a child

S. Lepreux, D. Lacombe, F. Boralevi, 2007, The British journal of dermatology.

Association of ectrodactyly and distal phocomelia.

D. Lacombe, M. Delrue, 2002, Genetic Counseling.

[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.

A 580 kb microdeletion in 17q21.32 associated with mental retardation, microcephaly, cleft palate, and cardiac malformation.

C. Rooryck, D. Lacombe, L. Taine, 2008, European journal of medical genetics.

Refined localisation of the voltage-gated chloride channel, CLCN3, to 4q33

D. Lacombe, L. Taine, B. Arveiler, 1998, Human Genetics.

[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.

A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern

P. Sonigo, A. Benachi, D. Lacombe, 2018, Birth defects research.

D. Lacombe, C. Cabrol, A. Goldenberg, 2018, Clinical genetics.

Splice mutation 1811+1.6kbA>G causes severe cystic fibrosis with pancreatic insufficiency: report of 11 compound heterozygous and two homozygous patients

N. Biteau, M. Claustres, D. Lacombe, 2002, Journal of medical genetics.

Defining the TRPM3 related spectrum: Possible ocular and joints defects, and inconstant epilepsy.

D. Lacombe, E. Lasseaux, B. Arveiler, 2020, European Journal of Medical Genetics.

1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotype.

J. Toutain, C. Rooryck, D. Lacombe, 2012, European journal of medical genetics.

Congenital marked hypertrichosis and Laband syndrome in a child: overlap between the gingival fibromatosis-hypertrichosis and Laband syndromes.

P. Bioulac-Sage, D. Lacombe, F. Lesure, 1994, Genetic counseling.

Cochleovestibular involvement in patients with Fabry disease: data from the multicenter cohort FFABRY

D. Lacombe, A. Masseau, C. Lavigne, 2021, European Archives of Oto-Rhino-Laryngology.

Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.

J. Buchan, D. Lacombe, M. Parker, 2023, American journal of human genetics.

A framework to identify contributing genes in patients with Phelan-McDermid syndrome

T. Bourgeron, R. Delorme, T. Rolland, 2017, NPJ Genomic Medicine.

Title The phenotype of Floating-Harbor syndrome : clinical characterization of 52 individuals with mutations in exon 34 of SRCAP Permalink

A. Hoischen, L. S. Lucas, E. Bongers, 2013 .

Floating-Harbor syndrome: description of a further patient, review of the literature, and suggestion of autosomal dominant inheritance

M. Patton, D. Lacombe, C. Elleau, 2005, European Journal of Pediatrics.

Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant.

P. Jouk, D. Lacombe, C. Goizet, 2019, European journal of medical genetics.

Phenotypic variability in van der Woude syndrome.

A. Verloes, D. Lacombe, J. Pedespan, 1995, Genetic counseling.

A novel mutation and novel features in Nijmegen breakage syndrome

A. Green, E. Shoubridge, A. Munnich, 2001, Journal of medical genetics.

Deletion in 2q35 excluding the IHH gene leads to fetal severe limb anomalies and suggests a disruption of chromatin architecture

P. Fergelot, P. Pennamen, C. Rooryck, 2018, European Journal of Human Genetics.

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2023, Human Genomics.

Prenatal retinoic acid exposure reveals candidate genes for craniofacial disorders

C. Rooryck, D. Lacombe, S. Claverol, 2018, Scientific Reports.

Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

K. Devriendt, G. Scarano, A. Toutain, 2016, Genetics in Medicine.

Donnai‐Barrow syndrome: Four additional patients

P. Calvas, N. Chassaing, D. Lacombe, 2003, American journal of medical genetics. Part A.

Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with Intellectual Disability

Thomas Bourgeron, Richard Delorme, Marion Leboyer, 2011, BMC Medical Genetics.

Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky–Pudlak syndrome

P. Pennamen, D. Lacombe, F. Giuliano, 2020, Pigment cell & melanoma research.

Prenatal diagnosis of female monozygotic twins discordant for Turner syndrome: implications for prenatal genetic counselling

D. Lacombe, C. Yardin, S. Briault, 2002, Prenatal diagnosis.

Isolated idiopathic chronic pancreatitis associated with a compound heterozygosity for two mutations of the CFTR gene.

D. Lacombe, M. Amouretti, D. Laharie, 2003, Gastroenterologie clinique et biologique.

"C" trigonocephaly syndrome with diaphragmnatic hernia.

D. Lacombe, D. Schorderet, M. Addor, 1995, Genetic counseling.

1q32-q41 microdeletion with reference to Van der Woude syndrome and allied clefting entities.

A. Munnich, C. Houdayer, D. Lacombe, 2000, American journal of medical genetics.

Dysmorphic features in subtelomeric 20p13 deletion excluding JAG1: a recognizable microdeletion phenotype?

J. Toutain, C. Rooryck, D. Lacombe, 2012, European journal of medical genetics.

Rare genetic diseases, signalling pathways, and keloid scar formation

D. Lacombe, F. Morice-Picard, 2014, The British journal of dermatology.

Clinical identification of a human equivalent to the short ear (se) murine phenotype.

A. Toutain, D. Lacombe, J. Battin, 1994, Annales de genetique.

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.

C5orf42 is the major gene responsible for OFD syndrome type VI

H. Kayserili, J. Rivière, D. Lacombe, 2013, 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.

EcoRl Blots Used for FRAXA Diagnosis: Analysis of Four FRAXE Families with Mild Mental Retardation in Males

S. Knight, D. Lacombe, V. Biancalana, 2007 .

SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism.

C. Rooryck, D. Lacombe, E. Colin, 2014, The Journal of investigative dermatology.

corr igenda Corrigendum : Mutations in TUBG 1 , DYNC 1 H 1 , KIF 5 C and KIF 2 A cause malformations of cortical development and microcephaly

D. Zélénika, P. Nitschké, D. Lacombe, 2013 .

Adaptative capacity of mitochondrial biogenesis and of mitochondrial dynamics in response to pathogenic respiratory chain dysfunction.

P. Berger, D. Lacombe, C. Rocher, 2013, Antioxidants & redox signaling.

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix–Saguenay

A. Durr, P. Convers, M. Koenig, 2015, Annals of neurology.

[French Society for Human Genetics. "Genetics in Practice" Commission. Core scientific data of use in genetic counseling. Hemochromatosis].

D. Lacombe, J. Yaouanq, J. Feingold, 1999, Annales de genetique.

Mutations in SNRPB, Encoding Components of the Core Splicing Machinery, Cause Cerebro‐Costo‐Mandibular Syndrome

A. Munnich, P. Nitschké, D. Lacombe, 2015, Human Mutation.

Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype‐phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys‐Dietz syndrome and related disorders

C. Junien, G. Jondeau, M. Claustres, 2008, Human mutation.

Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes

A. Verloes, D. Lacombe, A. David, 1999, Journal of medical genetics.

New clinico‐genetic classification of trichothiodystrophy

D. Lacombe, M. Cario-André, H. Rezvani, 2009, American journal of medical genetics. Part A.

Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations.

K. Dahan, C. Antignac, D. Lacombe, 2011, Clinical journal of the American Society of Nephrology : CJASN.

Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

K. Devriendt, G. Scarano, A. Toutain, 2016, Genetics in Medicine.

Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures

B. V. van Bon, B. D. de Vries, A. Toutain, 2012, American journal of medical genetics. Part A.

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.

G. Gyapay, A. Durr, F. Lamari, 2012, American journal of human genetics.