F. Fellmann

发表

Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics.

Pascal Borry, Wybo Dondorp, Heidi C Howard, 2013, European journal of human genetics : EJHG.

HSFY genes and the P4 palindrome in the AZFb interval of the human Y chromosome are not required for spermatocyte maturation.

M. Mitchell, N. Lévy, J. Chiaroni, 2012, Human reproduction.

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

P. Elliott, M. Jarvelin, C. Gieger, 2011, Nature.

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low‐copy repeats

Stephanie E. Vallee, J. Rosenfeld, L. Shaffer, 2012, Human mutation.

Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity

F. Escande, F. Fellmann, M. Ros, 2020, Nature Communications.

Syndrome of Birt–Hogg–Dubé, a Histopathological Pitfall With Similarities to Tuberous Sclerosis: A Report of Three Cases

D. Hohl, F. Fellmann, S. Giraud, 2013, The American Journal of dermatopathology.

Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

P. Stankiewicz, P. Szafranski, J. Beckmann, 2013, Human mutation.

ACTN2 variant associated with a cardiac phenotype suggestive of left-dominant arrhythmogenic cardiomyopathy

J. Schläpfer, F. Fellmann, Z. Bhuiyan, 2019, HeartRhythm case reports.

Confirmation of the origin of NISCH syndrome

J. Beckmann, D. Hohl, M. Huber, 2006, Human mutation.

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

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

[R74W;R1070W;D1270N]: a new complex allele responsible for cystic fibrosis.

J. Beckmann, M. Morris, I. Bouchardy, 2010, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.

C. Petit, F. Denoyelle, V. Drouin‐Garraud, 2005, Archives of otolaryngology--head & neck surgery.

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

L. Biesecker, J. Johnston, A. Verloes, 2009, European Journal of Human Genetics.

European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death

S. G. Temel, M. Sheppard, A. Sajantila, 2019, European Journal of Human Genetics.

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

K. Ormond, Y. Bombard, B. Peterlin, 2015, European Journal of Human Genetics.

16 q 24 . 1 microdeletion in a premature newborn : usefulness of array-based comparative genomic hybridation ( array CGH ) in persistent pulmonary hypertension of the newborn

P. Stankiewicz, Z. Xia, J. Beckmann, 2013 .

16q24.1 microdeletion in a premature newborn: Usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn

P. Stankiewicz, Z. Xia, J. Beckmann, 2011, Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies.

IL-17 receptor A and adenosine deaminase 2 deficiency in siblings with recurrent infections and chronic inflammation.

J. Beckmann, O. Boyman, D. Hohl, 2016, The Journal of allergy and clinical immunology.

When to refer for neurogenetic assessment

J. Beckmann, S. Jacquemont, F. Fellmann, 2006 .

Mitochondrial A3243G mutation with manifestation of acute dilated cardiomyopathy.

J. Schwitter, R. Hullin, F. Fellmann, 2012, Circulation. Heart failure.

Takotsubo cardiomyopathy and congenital long QT syndrome in a patient with a novel duplication in the Per-Arnt-Sim (PAS) domain of hERG1.

F. Fellmann, V. Castella, E. Pruvot, 2010, Heart rhythm.

ESHG PPPC Comments on postmortem use of genetic data for research purposes

C. Patch, E. Rial‐Sebbag, C. V. van El, 2019, European Journal of Human Genetics.

Sudden cardiac death in the young (5-39 years) in the canton of Vaud, Switzerland

J. Schläpfer, F. Fellmann, K. Michaud, 2014, BMC Cardiovascular Disorders.

Sudden cardiac death among general population and sport related population in forensic experience.

M. Wilhelm, F. Fellmann, K. Michaud, 2015, Journal of forensic and legal medicine.

Abstract 16441: Novel Calmodulin Mutations Cause Congenital Long QT Syndrome and Affect Calcium Current in Human Cardiomyocytes

Christopher N. Johnson, P. Schwartz, W. Chazin, 2015, Circulation.

Next‐generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy

R. Touraine, N. Chassaing, P. Jouk, 2020, Human mutation.

Fifteen new mutations (‐195C>T, L‐12X, 298‐2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue‐nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia

R. Hennekam, R. Hennekam, F. Fellmann, 2000, Human mutation.

A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death

F. Fellmann, X. André-Fouët, G. Millat, 2012, BMC Medical Genetics.

Fortuitous detection of uniparental isodisomy of chromosome 6.

S. Antonarakis, A. Gos, P. Tiberghien, 1997, Journal of medical genetics.

Bilateral carotid thrombus formation after strenuous coughing

R. Meuli, F. Siclari, F. Fellmann, 2009, European journal of neurology.

Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: Genotypic and phenotypic analysis

C. Petit, F. Denoyelle, V. Drouin‐Garraud, 2004, American journal of medical genetics. Part A.

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

K. Ormond, Y. Bombard, B. Peterlin, 2015, European Journal of Human Genetics.

AZFa deletions in Sertoli cell-only syndrome: a retrospective study.

F. Fellmann, C. Roux, O. Blagosklonova, 2000, Molecular human reproduction.

Segregation of chromosomes in sperm of Robertsonian translocation carriers

F. Fellmann, F. Morel, C. Roux, 2005, Cytogenetic and Genome Research.

Quantitative PCR technique for the identification of microrearrangements of the AZFc region

F. Fellmann, V. Rozé, J. Bresson, 2007, Journal of Assisted Reproduction and Genetics.

Meiotic segregation analysis by FISH investigation of spermatozoa of a 46,Y,der(X),t(X;Y)(qter→p22::q11→qter) carrier

F. Fellmann, F. Morel, C. Roux, 2001, Cytogenetic and Genome Research.

MOLECULAR ANALYSIS BY FLUORESCENCE IN SITU HYBRIDIZATION OF A PRENATALLY DETECTED DE NOVO COMPLEX CHROMOSOMAL REARRANGEMENT t(2q;3p;4q;13q)

F. Fellmann, S. Mercier, J. Bresson, 1996, Prenatal diagnosis.

Absence of anti-Müllerian hormone (AMH) and M2A immunoreactivities in Sertoli cell-only syndrome and maturation arrest with and without AZF microdeletions.

F. Fellmann, H. Bittard, C. Roux, 2002, Human reproduction.

Sertoli cell and Leydig cell immunophenotypes in patients with or without AZF microdeletions.

F. Fellmann, C. Roux, O. Blagosklonova, 2003, Fertility and sterility.

Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct.

F. Denoyelle, V. Drouin‐Garraud, B. Gilbert-Dussardier, 2010, International journal of pediatric otorhinolaryngology.

Whole-genome sequencing in health care

B. Knoppers, A. Cambon-Thomsen, H. Meijers-Heijboer, 2013, European Journal of Human Genetics.

Two new families with hereditary minimal change disease

E. Girardin, O. Bonny, F. Fellmann, 2013, BMC Nephrology.

Opportunistic genomic screening. Recommendations of the European Society of Human Genetics

A. Clarke, C. Patch, E. Dequeker, 2020, European Journal of Human Genetics.

Familial occurrence of an association of multiple intestinal atresia and choanal atresia: A new syndrome?

J. Beckmann, M. Osterheld, F. Fellmann, 2009, American journal of medical genetics. Part A.

Whole genome sequencing and analysis and the challenges for health care professionals: recommendations of the European Society of Human Genetics.

P. Borry, F. Fellmann, R. Hastings, 2012 .

Herpes simplex encephalitis in adult patients with MASP-2 deficiency

C. Rivolta, V. Zoete, O. Michielin, 2019, PLoS pathogens.

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

K. Ormond, Y. Bombard, B. Peterlin, 2015, European Journal of Human Genetics.

Molecular autopsy in sudden cardiac death and its implication for families: discussion of the practical, legal and ethical aspects of the multidisciplinary collaboration.

J. Beckmann, P. Mangin, F. Fellmann, 2009, Swiss medical weekly.

Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome.

D. Horn, M. Zeviani, K. Kutsche, 2015, American journal of human genetics.

Successful heart and liver transplantation in a Swiss patient with Glu89Lys transthyretin amyloidosis.

T. Kuntzer, D. Moradpour, F. Fellmann, 2011, Transplantation.

Implication of folate deficiency in CYP2U1 loss of function

A. Durr, F. Lamari, S. Picaud, 2021, The Journal of experimental medicine.

Sudden cardiac death in forensic medicine – Swiss recommendations for a multidisciplinary approach.

M. Wilhelm, A. Saguner, F. Fellmann, 2015, Swiss medical weekly.

SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years

M. Ruberg, A. Dürr, P. Ribai, 2006, Neurology.

Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness

Pascal Borry, Heidi C Howard, Jörg Schmidtke, 2014, European Journal of Human Genetics.

Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study

P. Chambon, L. Faivre, S. Jacquemont, 2014, Clinical genetics.

Pheochromocytoma Masked by Mutation in the TH Gene.

K. Abid, F. Fellmann, K. Afshar, 2016, Clinical chemistry.

Adult hypophosphatasia. Current aspects.

F. Fellmann, D. Wendling, E. Mornet, 2001, Joint, bone, spine : revue du rhumatisme.

French multi-centric study of 2000 amniotic fluid interphase FISH analyses from high-risk pregnancies and review of the literature.

B. Delobel, I. Luquet, F. Fellmann, 2002, Annales de genetique.

[Clinical and genetics aspects of Alport syndrome].

M. Burnier, F. Fellmann, F. Cachat, 2006, Revue medicale suisse.

Novel calmodulin mutations associated with congenital long QT syndrome affect calcium current in human cardiomyocytes.

Lia Crotti, Christopher N. Johnson, Nicole Sekarski, 2016, Heart rhythm.

A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss.

F. Denoyelle, C. Férec, F. Fellmann, 2009, European journal of medical genetics.

Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromes

A. Munnich, D. Bonneau, F. Fellmann, 1996, European Journal of Pediatrics.

Sudden death: ethical and legal problems of post‐mortem forensic genetic testing for hereditary cardiac diseases

P. Mangin, F. Fellmann, K. Michaud, 2010, Clinical genetics.

Identification of a novel de novo mutation (G373D) in the α‐galactosidase A gene (GLA) in a patient affected with Fabry disease

K. Azibi, F. Fellmann, C. Caillaud, 2001 .

A novel LAMB2 gene mutation associated with a severe phenotype in a neonate with Pierson syndrome

O. Bonny, F. Fellmann, F. Cachat, 2016, European Journal of Medical Research.

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations.

K. Ormond, Y. Bombard, B. Peterlin, 2015, European journal of human genetics : EJHG.

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.

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

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

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

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

Patient with Syncope and LQTS Carrying a Mutation in the PAS Domain of the hERG1 Channel

J. Schläpfer, F. Fellmann, L. S. Grilo, 2011, Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc.

European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death

F. Fellmann, A. Sajantila, Arthur A. M. Wilde, 2023 .

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

L. Biesecker, J. Johnston, A. Verloes, 2009, European Journal of Human Genetics.

[Molecular autopsy of sudden cardiac death: from postmortem to clinical approach].

P. Mangin, F. Fellmann, K. Michaud, 2008, Revue medicale suisse.

Novel calmodulin mutations associated with congenital long QT syndrome affect calcium current in human cardiomyocytes.

Christopher N. Johnson, W. Chazin, L. Crotti, 2016, Heart rhythm.

Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

P. Stankiewicz, P. Szafranski, J. Beckmann, 2013, Human mutation.

[R74W;R1070W;D1270N]: a new complex allele responsible for cystic fibrosis.

J. Beckmann, M. Morris, I. Bouchardy, 2010, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.