Genetic Medicine

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887 publications

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In press
 
A novel homozygous ALMS1 protein truncation mutation (c.2938dupA) revealed variable clinical expression among Saudi Alström syndrome patients
Bdier Amnah Yousuf, Al-Qahtani Faten Abdullah, Kumar Verma Prashant, Alshoaibi Naeem Abdulmoneem, Mohammed Alrayes Nuha, Shaik Noor Ahmad, Foo Roger Sik Yin, Bhuiyan Zahurul Alam, Al-Aama Jumana Y. Archives of Medical Science.
[DOI][serval:BIB_6E39D881387F]
 
Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome.
Courraud J., Engel C., Quartier A., Drouot N., Houessou U., Plassard D., Sorlin A., Brischoux-Boucher E., Gouy E., Van Maldergem L. et al. Molecular psychiatry. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_68A310AE2A40]
 
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Currò R., Dominik N., Facchini S., Vegezzi E., Sullivan R., Galassi Deforie V., Fernández-Eulate G., Traschütz A., Rossi S., Garibaldi M. et al. Brain. Peer-reviewed.
[DOI][Pmid][serval:BIB_DB9A9D0EE46D]
 
Mosaic RASopathies concept: different skin lesions, same systemic manifestations?
Morren M.A., Fodstad H., Brems H., Bedoni N., Guenova E., Jacot-Guillarmod M., Busiah K., Giuliano F., Gilliet M., Atallah I. Journal of medical genetics. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_40C612FFCAF2]
2024
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.
Hammann N., Lenz D., Baric I., Crushell E., Vici C.D., Distelmaier F., Feillet F., Freisinger P., Hempel M., Khoreva A.L. et al., 2024/03. Molecular genetics and metabolism, 141 (3) p. 108118. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_C34190170CCC]
 
Impact of neurofibromatosis type 1 on quality of life using the Skindex-29 questionnaire quality of life in NF1.
Cieza Rivera A.M., Lobato Fuertes C., Fernández-Villa T., Martín Sánchez V., Atallah I., 2024/02/24. Orphanet journal of rare diseases, 19 (1) p. 85. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_4F0F406061DB]
 
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.
Szakszon K., Lourenco C.M., Callewaert B.L., Geneviève D., Rouxel F., Morin D., Denommé-Pichon A.S., Vitobello A., Patterson W.G., Louie R. et al., 2024/01/19. Journal of medical genetics, 61 (2) pp. 132-141. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_64727C0AA5E2]
2023
Atypical cystic hepatorenal disease in a 40-year-old female: What is the diagnosis? A nephrology zebra.
Barbey F., Maillard M., Cina V., Fakhouri F., 2023/12. Journal of nephrology, 36 (9) pp. 2651-2653. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_EDE08B2F7EAB]
 
Infantile Spasms without Hypsarrhythmia and Paroxysmal Eye-Head Movements in an Infant with a Pyridoxine-Dependent Epilepsy due to PLPBP/PLPHP Deficiency.
Kalser J., Giuliano F., Peralta M., Plecko B., Bölsterli B.K., 2023/12. Neuropediatrics, 54 (6) pp. 422-425. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_714E16963840]
 
Single-center, observational study of AML/MDS-EB with IDH1/2 mutations: genetic profile, immunophenotypes, mutational kinetics and outcomes.
Papadopoulou V., Schoumans J., Basset V., Solly F., Pasquier J., Blum S., Spertini O., 2023/12. Hematology, 28 (1) p. 2180704. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_E1AEFA186EFE]
 
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.
Oppermann H., Marcos-Grañeda E., Weiss L.A., Gurnett C.A., Jelsig A.M., Vineke S.H., Isidor B., Mercier S., Magnussen K., Zacher P. et al., 2023/11. European journal of human genetics, 31 (11) pp. 1251-1260. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_483D54F3B66F]
Correction to: New Dominant‑Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130‑Dependent Hyper‑IgE Syndrome.
Arlabosse T., Materna M., Riccio O., Schnider C., Angelini F., Perreau M., Rochat I., Superti-Furga A., Campos-Xavier B., Héritier S. et al., 2023/10. Journal of clinical immunology, 43 (7) p. 1674. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_D920DAB3A125]
Identification of potential non-invasive biomarkers in diastrophic dysplasia.
Paganini C., Carroll R.S., Gramegna Tota C., Schelhaas A.J., Leone A., Duker A.L., O'Connell D.A., Coghlan R.F., Johnstone B., Ferreira C.R. et al., 2023/10. Bone, 175 p. 116838. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_CE429C4C1F32]
 
New Dominant-Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130-Dependent Hyper-IgE Syndrome.
Arlabosse T., Materna M., Riccio O., Schnider C., Angelini F., Perreau M., Rochat I., Superti-Furga A., Campos-Xavier B., Héritier S. et al., 2023/10. Journal of clinical immunology, 43 (7) pp. 1566-1580. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_BB16C2AE927C]
 
EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias.
Hayesmoore J.B., Bhuiyan Z.A., Coviello D.A., du Sart D., Edwards M., Iascone M., Morris-Rosendahl D.J., Sheils K., van Slegtenhorst M., Thomson K.L., 2023/09. European journal of human genetics, 31 (9) pp. 1003-1009. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_C12E0FE39170]
 
Diprosopus: A Rare Case of Craniofacial Duplication and a Systematic Review of the Literature.
Trevisani V., Balestri E., Napoli M., Caraffi S.G., Baroni M.C., Peluso F., Colonna A., Iughetti L., Gargano G., Superti-Furga A. et al., 2023/08/31. Genes, 14 (9) p. 1745. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_5E77229BB467]
 
Développements récents en hématologie, Partie 2
Duchosal Michel A., Alberio Lorenzo, Angelillo-Scherrer Anne, Arber Caroline, Balabanov Stefan, Blum Sabine, Bttcher Steffen, Buser Andreas, Cairoli Anne, Chalandon Yves et al., 2023/08/23. Forum Médical Suisse ‒ Swiss Medical Forum.
[DOI][serval:BIB_E9D38C229944]
 
Développements récents en hématologie, Teil 1
Duchosal Michel A., Alberio Lorenzo, Angelillo-Scherrer Anne, Arber Caroline, Balabanov Stefan, Blum Sabine, Bttcher Steffen, Buser Andreas, Cairoli Anne, Chalandon Yves et al., 2023/08/16. Forum Médical Suisse ‒ Swiss Medical Forum.
[DOI][serval:BIB_BEEE6D0FAED7]
 
Deep next-generation proteomics and network analysis reveal systemic and tissue-specific patterns in Fabry disease.
Tebani A., Barbey F., Dormond O., Ducatez F., Marret S., Nowak A., Bekri S., 2023/08. Translational research, 258 pp. 47-59. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_60B7F9E411D1]
Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3.
Lecca M., Bedeschi M.F., Izzi C., Dordoni C., Rinaldi B., Peluso F., Caraffi S.G., Prefumo F., Signorelli M., Zanzucchi M. et al., 2023/08. Clinical genetics, 104 (2) pp. 230-237. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_9250F2490054]
SORD-related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages.
Pons N., Fernández-Eulate G., Pegat A., Théaudin M., Guieu R., Ripellino P., Devedjian M., Mace P., Masingue M., Léonard-Louis S. et al., 2023/07. European journal of neurology, 30 (7) pp. 2001-2011. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_EBAC3490A210]
 
Blunted circadian variation of blood pressure in individuals with neurofibromatosis type 1.
Rivera AMC, Fernández-Villa T., Martín V., Atallah I., 2023/06/23. Orphanet journal of rare diseases, 18 (1) p. 164. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_AC8868C45471]
 
Prise en charge des maladies rénales génétiques : expérience locale et importance du réseau [Management of genetic renal disorders: local experience and importance of the network]
Bonny O., Ketterer A., Hermida S., Superti-Furga A., Venetz J.P., Chehade H., Fodstad H., Cina V., Parvex P., Paoloni-Giacobino A. et al., 2023/06/21. Revue medicale suisse, 19 (832) pp. 1245-1249. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_9C5896980D20]
Developmental disorder and spastic paraparesis in two sisters with a TCF7L2 truncating variant inherited from a mosaic mother.
Royer-Bertrand B., Lebon S., Craig A., Maeder J., Mittaz-Crettol L., Fodstad H., Superti-Furga A., Good J.M., 2023/06. American journal of medical genetics. Part A, 191 (6) pp. 1658-1663. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_1128EDF4C0B9]
Long-Term Monitoring of Cardiac Involvement under Migalastat Treatment Using Magnetic Resonance Tomography in Fabry Disease.
Gatterer C., Beitzke D., Graf S., Lenz M., Sunder-Plassmann G., Mann C., Ponleitner M., Manka R., Fritschi D., Krayenbuehl P.A. et al., 2023/05/19. Life, 13 (5) p. 1213. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_755681B65A74]
 
In-depth molecular profiling of an intronic GNAO1 mutant as the basis for personalized high-throughput drug screening.
Koval A., Larasati Y.A., Savitsky M., Solis G.P., Good J.M., Quinodoz M., Rivolta C., Superti-Furga A., Katanaev V.L., 2023/05/12. Med, 4 (5) pp. 311-325.e7. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_0CDBEAD26ACD]
Nosology of genetic skeletal disorders: 2023 revision.
Unger S., Ferreira C.R., Mortier G.R., Ali H., Bertola D.R., Calder A., Cohn D.H., Cormier-Daire V., Girisha K.M., Hall C. et al., 2023/05. American journal of medical genetics. Part A, 191 (5) pp. 1164-1209. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_A5308577ECD7]
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.
Boy N., Mühlhausen C., Maier E.M., Ballhausen D., Baumgartner M.R., Beblo S., Burgard P., Chapman K.A., Dobbelaere D., Heringer-Seifert J. et al., 2023/05. Journal of inherited metabolic disease, 46 (3) pp. 482-519. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_F3F865C56384]
 
Quand penser à une maladie osseuse constitutionnelle ? [Constitutional diseases of bone: clinical flags]
Debrach A.C., Brégou A., Gonzalez Rodriguez E., Pejin Z., Kumps C., Craig A., Pavlidou D.C., Atallah I., 2023/04/19. Revue medicale suisse, 19 (823) pp. 766-769. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_FA948A8752E6]
 
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.
Lecca M., Pehlivan D., Suñer D.H., Weiss K., Coste T., Zweier M., Oktay Y., Danial-Farran N., Rosti V., Bonasoni M.P. et al., 2023/04/06. American journal of human genetics, 110 (4) pp. 681-690. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_261A60E3FC55]
Biotinidase deficiency: What have we learned in forty years?
Tankeu A.T., Van Winckel G., Elmers J., Jaccard E., Superti-Furga A., Wolf B., Tran C., 2023/04. Molecular genetics and metabolism, 138 (4) p. 107560. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_794C2E8293EE]
 
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.
Aerden M., Denommé-Pichon A.S., Bonneau D., Bruel A.L., Delanne J., Gérard B., Mazel B., Philippe C., Pinson L., Prouteau C. et al., 2023/04. European journal of human genetics, 31 (4) pp. 461-468. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_9F1FCE7610D3]
 
Le régime cétogène : efficace contre le cancer ? [Is ketogenic diet effective against cancer ?]
Tankeu A.T., Barigou M., Pedro R., De Micheli R., Bodmer A., Genton L., Collet T.H., Tran C., 2023/03/22. Revue medicale suisse, 19 (819) pp. 576-580. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_E4266B1D898E]
Overweight and obesity in adult patients with phenylketonuria: a systematic review.
Tankeu A.T., Pavlidou D.C., Superti-Furga A., Gariani K., Tran C., 2023/02/22. Orphanet journal of rare diseases, 18 (1) p. 37. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_920FF2B6A864]
Description of an Institutional Cohort of Myeloid Neoplasms Carrying ETV6-Locus Deletions or ETV6 Rearrangements.
Papadopoulou V., Schoumans J., Scarpelli I., Blum S., 2023. Acta haematologica, 146 (5) pp. 401-407. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_4670AF426CC7]
 
Drug-target identification in COVID-19 disease mechanisms using computational systems biology approaches.
Niarakis A., Ostaszewski M., Mazein A., Kuperstein I., Kutmon M., Gillespie M.E., Funahashi A., Acencio M.L., Hemedan A., Aichem M. et al., 2023. Frontiers in immunology, 14 p. 1282859. Peer-reviewed.
[DOI][Pmid][serval:BIB_6275E3C6D1A9]
 
Intrafamilial variability and neurological manifestations in two siblings with carbohydrate sulfotransferase 3-related skeletal dysplasia.
Rivera-Vargas J., Superti-Furga A., Bonafé L., Peña-Padilla C., Cortés-Pastrana R.C., Bobadilla-Morales L., Corona-Rivera A., Corona-Rivera J.R., 2023/01/01. Clinical dysmorphology, 32 (1) pp. 14-17. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_49A7C3F7E927]
Prenatal Diagnosis of Gómez-López-Hernández Syndrome.
Pomar L., Rieder W., Dubruc E., Giuliano F., Atallah I., Lebon S., Vial Y., 2023. Fetal diagnosis and therapy, 50 (2) pp. 92-97. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_D371237FF86F]
2022
Natural history of KBG syndrome in a large European cohort.
Loberti L., Bruno L.P., Granata S., Doddato G., Resciniti S., Fava F., Carullo M., Rahikkala E., Jouret G., Menke L.A. et al., 2022/12/16. Human molecular genetics, 31 (24) pp. 4131-4142. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_CD40BBEC41D3]
Rare copy number variation in posttraumatic stress disorder.
Maihofer A.X., Engchuan W., Huguet G., Klein M., MacDonald J.R., Shanta O., Thiruvahindrapuram B., Jean-Louis M., Saci Z., Jacquemont S. et al., 2022/12. Molecular psychiatry, 27 (12) pp. 5062-5069. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_B1960FF860D1]
The «Amish» NM_000256.3:c.3330+2T>G splice variant in MYBPC3 associated with hypertrophic cardiomyopathy is an ancient Swiss mutation.
Redin C., Pavlidou D.C., Bhuiyan Z., Porretta A.P., Monney P., Bedoni N., Maurer F., Sekarski N., Atallah I., Émeline D. et al., 2022/12. European journal of medical genetics, 65 (12) p. 104627. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_36267BDE9D6F]
Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trial.
Imbard A., Toumazi A., Magréault S., Garcia-Segarra N., Schlemmer D., Kaguelidou F., Perronneau I., Haignere J., de Baulny H.O., Kuster A. et al., 2022/11/14. Orphanet journal of rare diseases, 17 (1) p. 417. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_1D750D2C3DE6]
Diagnostic génétique moléculaire des enfants implantés cochléaires en Suisse romande [Molecular genetic diagnosis in children with cochlear implants in the Western french speaking part of Switzerland]
Fries S., Unger S., Cina V., Strom A., Paoloni-Giacobino A., Simon C., Senn P., Cao Van H., 2022/10/05. Revue medicale suisse, 18 (798) pp. 1855-1859. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_8045358AE7CC]
 
When Simple Phlebotomy Is the Cure: Porphyria Cutanea Tarda.
Pavlidou D.C., Van Winckel G., Tran C., 2022/10. Journal of general internal medicine, 37 (13) pp. 3489-3490. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_11876907867A]
Syndrome des télomères courts chez l’adulte : une entité rare qu’il faut savoir évoquer [Short telomere syndrome in adults: a rare entity that should be evoked]
Coukos A., Daccord C., Lazor R., Blum S., Naveiras O., Unger S., Vionnet J., Gaide O., Koutsokera A., Moschouri E. et al., 2022/08/31. Revue medicale suisse, 18 (793) pp. 1606-1613. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_610156412D48]
 
Discordance Between Germline and Blood Mosaicism in Calmodulinopathy.
Bhuiyan Z.A., Bdier A., Al-Aama J.Y., Abramova T., George A.L., 2022/08. Circulation. Genomic and precision medicine, 15 (4) pp. e003695. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_EC86DD95C033]
 
SCN5A overlap syndromes: An open-minded approach.
Porretta A.P., Probst V., Bhuiyan Z.A., Davoine E., Delinière A., Pascale P., Schlaepfer J., Superti-Furga A., Pruvot E., 2022/08. Heart rhythm, 19 (8) pp. 1363-1368. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_E6B016D96A8A]
Optical Genome Mapping: A Promising New Tool to Assess Genomic Complexity in Chronic Lymphocytic Leukemia (CLL).
Puiggros A., Ramos-Campoy S., Kamaso J., de la Rosa M., Salido M., Melero C., Rodríguez-Rivera M., Bougeon S., Collado R., Gimeno E. et al., 2022/07/11. Cancers, 14 (14) p. 3376. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_119F512686F7]
 
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
Velmans C., O'Donnell-Luria A.H., Argilli E., Tran Mau-Them F., Vitobello A., Chan M.C., Fung J.L., Rech M., Abicht A., Aubert Mucca M. et al., 2022/07. Journal of medical genetics, 59 (7) pp. 697-705. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_83FFDC95F451]
Early-onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid-forties patient.
Gschwind M., Garcia Segarra N., Schaller A., Bolognini R., Nuoffer J.M., Hourez R., Deprez M., Lhermitte B., Maeder P., Tran C. et al., 2022/06. Annals of clinical and translational neurology, 9 (6) pp. 888-892. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_A6682E61ECE6]
 
The GA4GH Phenopacket schema defines a computable representation of clinical data.
Jacobsen JOB, Baudis M., Baynam G.S., Beckmann J.S., Beltran S., Buske O.J., Callahan T.J., Chute C.G., Courtot M., Danis D. et al., 2022/06. Nature biotechnology, 40 (6) pp. 817-820. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_33B45C21C858]
 
Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt.
Rouxel F., Yauy K., Boursier G., Gatinois V., Barat-Houari M., Sanchez E., Lacombe D., Arpin S., Giuliano F., Haye D. et al., 2022/06. European journal of human genetics, 30 (6) pp. 682-686. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_5FB010BE5972]
 
Obituary for Claude Bachmann, MD (1941–2022).
Batshaw ML, Braissant O., Dionisi-Vici C., Steinmann B., Superti-Furga A., 2022/05. Journal of Inherited Metabolic Disease, 45 (3) pp. 657-658. Peer-reviewed.
[DOI][WoS][serval:BIB_C276F4700419]
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Galosi S., Edani B.H., Martinelli S., Hansikova H., Eklund E.A., Caputi C., Masuelli L., Corsten-Janssen N., Srour M., Oegema R. et al., 2022/03/29. Brain, 145 (1) pp. 208-223. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_49C7D80FE3EC]
 
New Insight in Hyperinsulinism/Hyperammonemia Syndrome by Magnetic Resonance Imaging and Spectroscopy.
Gariani K., Klauser A., Vargas M.I., Lazeyras F., Tran C., 2022/03/15. Brain sciences, 12 (3) p. 389. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_7238B318E84F]
Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity.
Quinodoz M., Peter V.G., Cisarova K., Royer-Bertrand B., Stenson P.D., Cooper D.N., Unger S., Superti-Furga A., Rivolta C., 2022/03/03. American journal of human genetics, 109 (3) pp. 457-470. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_00A3C85AEFEA]
Isolated skin infiltration by a blastic plasmacytoid dendritic cell neoplasm.
Stalder G., Milowich D., Blum S., Schoumans J., Bisig B., Spertini O., 2022/02. EJHaem, 3 (1) pp. 259-260. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_EC0E8BADE124]
 
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
Kumble S., Levy A.M., Punetha J., Gao H., Ah Mew N., Anyane-Yeboa K., Benke P.J., Berger S.M., Bjerglund L., Campos-Xavier B. et al., 2022/02. Human mutation, 43 (2) pp. 266-282. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_4A256FE26284]
Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features.
Rosato S., Unger S., Campos-Xavier B., Caraffi S.G., Beltrami L., Pollazzon M., Ivanovski I., Castori M., Bonasoni M.P., Comitini G. et al., 2022/01/28. Genes, 13 (2) p. 261. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_992E2C5FF127]
 
A monoallelic SEC23A variant E599K associated with cranio-lenticulo-sutural dysplasia.
Cisarova K., Garavelli L., Caraffi S.G., Peluso F., Valeri L., Gargano G., Gavioli S., Trimarchi G., Neri A., Campos-Xavier B. et al., 2022/01. American journal of medical genetics. Part A, 188 (1) pp. 319-325. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_0ACD45308BA8]
 
Chronische Müdigkeit: Wann liegt der Verdacht auf eine erbliche Stoffwechselerkrankung vor? [Chronic Fatigue: When to Suspect an Inherited Metabolic Disease?]
Tankeu A.T., Tran C., 2022/01. Praxis, 110 (1) pp. 1-6. Peer-reviewed.
[DOI][Pmid][serval:BIB_37807F248A56]
 
Fatigue chronique: quand suspecter une maladie héréditaire du métabolisme? [Chronic Fatigue: When to Suspect an Inherited Metabolic Disease?]
Tankeu A.T., Tran C., 2022/01. Praxis, 110 (1) pp. 38-43. Peer-reviewed.
[DOI][Pmid][serval:BIB_8BFFA015F66C]
 
Increased serum concentrations of estrogen-induced growth factors Midkine and FGF2 in NF1 patients with plexiform neurofibroma.
Atallah I., Cieza Rivera A.M., Rivero Lezcano O.M., Tascón-González L., González-Cortés C., Diez Tascón C., Fernández-Villa T., Martín V., 2022. American journal of translational research, 14 (5) pp. 3180-3188. Peer-reviewed.
[WoS][Pmid][serval:BIB_031FD0BD08E9]
Partial lipodystrophy, severe dyslipidaemia and insulin resistant diabetes as early signs of Werner syndrome.
Atallah I., McCormick D., Good J.M., Barigou M., Fraga M., Sempoux C., Superti-Furga A., Semple R.K., Tran C., 2022. Journal of clinical lipidology, 16 (5) pp. 583-590. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_E5FCC361A247]
2021
Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.
Pollazzon M., Caraffi S.G., Faccioli S., Rosato S., Fodstad H., Campos-Xavier B., Soncini E., Comitini G., Frattini D., Grimaldi T. et al., 2021/12/23. Genes, 13 (1) p. 29. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_9DFD90B994C1]
 
Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly.
El Mouatani A., Van Winckel G., Zaafrane-Khachnaoui K., Whalen S., Achaiaa A., Kaltenbach S., Superti-Furga A., Vekemans M., Fodstad H., Giuliano F. et al., 2021/12. American journal of medical genetics. Part A, 185 (12) pp. 3831-3837. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_067C6101290D]
 
Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey.
van Wegberg AMJ, Trefz F., Gizewska M., Ahmed S., Chabraoui L., Zaki M.S., Maillot F., van Spronsen F.J., Study Group on Missed PKU and Missed to Follow-Up, 2021/12. The Journal of pediatrics, 239 pp. 231-234.e2. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_88FE7A47B322]
GA4GH: International policies and standards for data sharing across genomic research and healthcare.
Rehm H.L., Page AJH, Smith L., Adams J.B., Alterovitz G., Babb L.J., Barkley M.P., Baudis M., Beauvais MJS, Beck T. et al., 2021/11/10. Cell genomics, 1 (2) p. 100029. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_0C82FBDFD245]
 
Black cartilage: Incidentally discovered articular ochronosis during arthroplasty.
Kumps C., Stanovici J., Chaibi E., Campos-Xavier B., Pavlidou D.C., Tran C., 2021/11. Journal of inherited metabolic disease, 44 (6) pp. 1503-1504. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_0DE5C7CB45BA]
Diurnal Salivary Cortisol in Sarcopenic Postmenopausal Women: The OsteoLaus Cohort.
Gonzalez Rodriguez E., Marques-Vidal P., Aubry-Rozier B., Papadakis G., Preisig M., Kuehner C., Vollenweider P., Waeber G., Hans D., Lamy O., 2021/11. Calcified tissue international, 109 (5) pp. 499-509. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_0628DBCF60E2]
 
Implication of folate deficiency in CYP2U1 loss of function.
Pujol C., Legrand A., Parodi L., Thomas P., Mochel F., Saracino D., Coarelli G., Croon M., Popovic M., Valet M. et al., 2021/11/01. The Journal of experimental medicine, 218 (11) pp. e20210846. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_D2C532F46634]
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.
Royer-Bertrand B., Jequier Gygax M., Cisarova K., Rosenfeld J.A., Bassetti J.A., Moldovan O., O'Heir E., Burrage L.C., Allen J., Emrick L.T. et al., 2021/10/26. Molecular autism, 12 (1) p. 69. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_665170C14526]
 
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Rodan L.H., Spillmann R.C., Kurata H.T., Lamothe S.M., Maghera J., Jamra R.A., Alkelai A., Antonarakis S.E., Atallah I., Bar-Yosef O. et al., 2021/10. Genetics in medicine, 23 (10) p. 2016. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_16014972BDE3]
COVID19 Disease Map, a computational knowledge repository of virus-host interaction mechanisms.
Ostaszewski M., Niarakis A., Mazein A., Kuperstein I., Phair R., Orta-Resendiz A., Singh V., Aghamiri S.S., Acencio M.L., Glaab E. et al., 2021/10. Molecular systems biology, 17 (10) pp. e10387. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_1A41D5739AA2]
 
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Rodan L.H., Spillmann R.C., Kurata H.T., Lamothe S.M., Maghera J., Jamra R.A., Alkelai A., Antonarakis S.E., Atallah I., Bar-Yosef O. et al., 2021/10. Genetics in medicine, 23 (10) pp. 1922-1932. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_1C202819AA37]
Correction to: Elevated lactate in Mauriac syndrome: still a mystery.
Touilloux B., Lu H., Campos-Xavier B., Superti-Furga A., Hauschild M., Bouthors T., Tran C., 2021/09/30. BMC endocrine disorders, 21 (1) p. 194. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_C20E707E2A26]
 
Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies.
Rehman A.U., Sepahi N., Bedoni N., Ravesh Z., Salmaninejad A., Cancellieri F., Peter V.G., Quinodoz M., Mojarrad M., Pasdar A. et al., 2021/09/29. Scientific reports, 11 (1) p. 19332. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_F47F704E68B0]
Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity.
Haro E., Petit F., Pira C.U., Spady C.D., Lucas-Toca S., Yorozuya L.I., Gray A.L., Escande F., Jourdain A.S., Nguyen A. et al., 2021/09/20. Nature communications, 12 (1) p. 5533. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_CF5A58D602B6]
 
CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations.
Royer-Bertrand B., Cisarova K., Niel-Butschi F., Mittaz-Crettol L., Fodstad H., Superti-Furga A., 2021/09/16. Genes, 12 (9) p. 1427. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_FEB505D01ED8]
Update Swiss guideline for counselling and testing for predisposition to breast, ovarian, pancreatic and prostate cancer.
Stoll S., Unger S., Azzarello-Burri S., Chappuis P., Graffeo R., Pichert G., Röthlisberger B., Taban F., Riniker S., 2021/09/13. Swiss medical weekly, 151 pp. w30038. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_89048E00F77D]
Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants.
Lebon S., Quinodoz M., Peter V.G., Gengler C., Blanchard G., Cina V., Campos-Xavier B., Rivolta C., Superti-Furga A., 2021/09/10. Genes, 12 (9) p. 1397. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_14ADEBC9C07B]
Great future or greedy venture: Precision medicine needs philosophy.
Jiao F., Guo R., Beckmann J.S., Yan Z., Yang Y., Hu J., Wang X., Xie S., 2021/09. Health science reports, 4 (3) pp. e376. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_28C3E384BE78]
Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K<sup>+</sup> channelopathies.
Gripp K.W., Smithson S.F., Scurr I.J., Baptista J., Majumdar A., Pierre G., Williams M., Henderson L.B., Wentzensen I.M., McLaughlin H. et al., 2021/09. European journal of human genetics, 29 (9) pp. 1384-1395. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_FB1A5B23DB43]
 
The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects.
Tran C., Turolla L., Ballhausen D., Buros S.C., Teav T., Gallart-Ayala H., Ivanisevic J., Faouzi M., Lefeber D.J., Ivanovski I. et al., 2021/09. Molecular genetics and metabolism reports, 28 p. 100777. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_965C3E713BFF]
 
Elevated lactate in Mauriac syndrome: still a mystery.
Touilloux B., Lu H., Campos-Xavier B., Superti-Furga A., Hauschild M., Bouthors T., Tran C., 2021/08/21. BMC endocrine disorders, 21 (1) p. 172. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_8EAC9E849686]
 
Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A.
Upadhyai P., Radhakrishnan P., Guleria V.S., Kausthubham N., Nayak S.S., Superti-Furga A., Girisha K.M., 2021/08. Human mutation, 42 (8) pp. 1005-1014. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_9F58A8528769]
CNOT2 haploinsufficiency in a 40-year-old man with intellectual disability, autism, and seizures.
Royer-Bertrand B., Cisarova K., Niel Bütschi F., Foletti G., Guinchat V., Tran C., Superti-Furga A., Good J.M., 2021/08. American journal of medical genetics. Part A, 185 (8) pp. 2602-2606. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_F533D2A35FEA]
 
Correction: The psychiatric phenotypes of 1q21 distal deletion and duplication.
Linden S.C., Watson C.J., Smith J., Chawner SJRA, Lancaster T.M., Evans F., Williams N., Skuse D., Raymond F.L., Hall J. et al., 2021/06/18. Translational psychiatry, 11 (1) p. 372. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_8BDA2BB50C97]
Classical homocystinuria, is it safe to exercise?
Tankeu A.T., Van Winckel G., Campos-Xavier B., Braissant O., Pedro R., Superti-Furga A., Amati F., Tran C., 2021/06. Molecular genetics and metabolism reports, 27 p. 100746. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_D434B028D266]
 
Effect of a high fructose diet on metabolic parameters in carriers for hereditary fructose intolerance.
Debray F.G., Seyssel K., Fadeur M., Tappy L., Paquot N., Tran C., 2021/06. Clinical nutrition, 40 (6) pp. 4246-4254. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_5592E5FCEA72]
 
Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene.
Atallah I., Quinodoz M., Campos-Xavier B., Peter V.G., Fouriki A., Bonvin C., Bottani A., Kumps C., Angelini F., Bellutti Enders F. et al., 2021/06. Clinical genetics, 99 (6) pp. 780-788. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_ED69F497CA09]
 
Life-threatening arrhythmias with autosomal recessive TECRL variants.
Webster G., Aburawi E.H., Chaix M.A., Chandler S., Foo R., Islam AKMM, Kammeraad JAE, Rioux J.D., Al-Gazali L., Sayeed M.Z. et al., 2021/05/21. Europace, 23 (5) pp. 781-788. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_1CBA4E180616]
NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges.
Good J.M., Atallah I., Castro Jimenez M., Benninger D., Kuntzer T., Superti-Furga A., Tran C., 2021/05/06. Genes, 12 (5) p. 695. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_EF75CA328A1A]
 
Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.
Kožich V., Sokolová J., Morris AAM, Pavlíková M., Gleich F., Kölker S., Krijt J., Dionisi-Vici C., Baumgartner M.R., Blom H.J. et al., 2021/05. Journal of inherited metabolic disease, 44 (3) pp. 677-692. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_7F1B6C75347C]
 
Cancer surveillance in children with Ollier Disease and Maffucci Syndrome.
Diezi M., Zambelli P.Y., Superti-Furga A., Unger S., Renella R., 2021/04. American journal of medical genetics. Part A, 185 (4) pp. 1338-1340. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_856FB220C691]
Molécules chaperons : exemple de la maladie de Fabry [Chaperone molecules: The example of Fabry disease]
Barbey F., Monney P., Dormond O., 2021/04. Nephrologie & therapeutique, 17S pp. S11-S22. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_68A5DE95B5D5]
 
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator.
Allou L., Balzano S., Magg A., Quinodoz M., Royer-Bertrand B., Schöpflin R., Chan W.L., Speck-Martins C.E., Carvalho D.R., Farage L. et al., 2021/04. Nature, 592 (7852) pp. 93-98. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_C3BBE7F51AD8]
 
Improvement of the skeletal phenotype in a mouse model of diastrophic dysplasia after postnatal treatment with N-acetylcysteine.
Paganini C., Gramegna Tota C., Monti L., Monti I., Maurizi A., Capulli M., Bourmaud M., Teti A., Cohen-Solal M., Villani S. et al., 2021/03. Biochemical pharmacology, 185 p. 114452. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_DB288C66CCE3]
 
Opportunistic genomic screening. Recommendations of the European Society of Human Genetics.
de Wert G., Dondorp W., Clarke A., Dequeker EMC, Cordier C., Deans Z., van El C.G., Fellmann F., Hastings R., Hentze S. et al., 2021/03. European journal of human genetics, 29 (3) pp. 365-377. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_6FEC196D50D6]
 
Spinal cerebrotendinous xanthomatosis: A case report and literature review.
Atallah I., Millán D.S., Benoît W., Campos-Xavier B., Superti-Furga A., Tran C., 2021/03. Molecular genetics and metabolism reports, 26 p. 100719. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_94C28276E9CC]
 
The psychiatric phenotypes of 1q21 distal deletion and duplication.
Linden S.C., Watson C.J., Smith J., Chawner SJRA, Lancaster T.M., Evans F., Williams N., Skuse D., Raymond F.L., Hall J. et al., 2021/02/04. Translational psychiatry, 11 (1) p. 105. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_FC04B9867C5C]
 
Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders.
Botto L.D., Meeths M., Campos-Xavier B., Bergamaschi R., Mazzanti L., Scarano E., Finocchi A., Cancrini C., Zirn B., Kühnle I. et al., 2021/02. American journal of medical genetics. Part A, 185 (2) pp. 517-527. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_60645E52F6A8]
New variants and in silico analyses in GRK1 associated Oguchi disease.
Poulter J.A., Gravett MSC, Taylor R.L., Fujinami K., De Zaeytijd J., Bellingham J., Rehman A.U., Hayashi T., Kondo M., Rehman A. et al., 2021/02. Human mutation, 42 (2) pp. 164-176. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_CB7A80BEDE1E]
AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data.
Quinodoz M., Peter V.G., Bedoni N., Royer Bertrand B., Cisarova K., Salmaninejad A., Sepahi N., Rodrigues R., Piran M., Mojarrad M. et al., 2021/01/22. Nature communications, 12 (1) p. 518. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_03712A3BC8BB]
Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability.
Lagou V., Mägi R., Hottenga J.J., Grallert H., Perry JRB, Bouatia-Naji N., Marullo L., Rybin D., Jansen R., Min J.L. et al., 2021/01/05. Nature communications, 12 (1) p. 24. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_165C70D1F41C]
The noradrenergic profile of plasma metanephrine in neuroblastoma patients is reproduced in xenograft mice models and arise from PNMT downregulation.
Abid K., Popovic M.B., Bourloud K.B., Schoumans J., Grand-Guillaume J., Grouzmann E., Mühlethaler-Mottet A., 2021/01/05. Oncotarget, 12 (1) pp. 49-60. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_F6E0642966A2]
Case Report: A Rare Truncating Variant of the CFHR5 Gene in IgA Nephropathy.
Guzzo G., Sadallah S., Fodstad H., Venetz J.P., Rotman S., Teta D., Gauthier T., Pantaleo G., Superti-Furga A., Pascual M., 2021. Frontiers in genetics, 12 p. 529236. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_AA15A6D9CD84]
Challenges in Treating Genodermatoses: New Therapies at the Horizon.
Morren M.A., Legius E., Giuliano F., Hadj-Rabia S., Hohl D., Bodemer C., 2021. Frontiers in pharmacology, 12 p. 746664. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_CCBB194ECE2D]
Editorial: Monogenic vs. Oligogenic Reclassification.
Messaoud O., Dutta A.K., Cornejo-Olivas M.R., Bhuiyan Z.A., 2021. Frontiers in genetics, 12 p. 821591. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_63D5E855D8A5]
Genome-wide association study identifies 48 common genetic variants associated with handedness.
Cuellar-Partida G., Tung J.Y., Eriksson N., Albrecht E., Aliev F., Andreassen O.A., Barroso I., Beckmann J.S., Boks M.P., Boomsma D.I. et al., 2021/01. Nature human behaviour, 5 (1) pp. 59-70. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_E7424914D13E]
2020
Nouveautés dans le traitement des malformations veineuses complexes : le laser endoveineux [Advances in the treatment of complex venous malformation: endovenous laser]
Fresa M., Ney B., Qanadli S.D., Saliou G., Superti-Furga A., De Buys A., El Ezzi O., Raffoul W., Mazzolai L., 2020/12/09. Revue medicale suisse, 16 (718) pp. 2387-2390. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_2A766E3E7454]
 
Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies.
Salmaninejad A., Bedoni N., Ravesh Z., Quinodoz M., Shoeibi N., Mojarrad M., Pasdar A., Rivolta C., 2020/11/10. Scientific reports, 10 (1) p. 19413. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_676CA127081C]
 
Non-invasive prenatal testing leading to a maternal diagnosis of Charcot-Marie-Tooth neuropathy.
Kumps C., Niel Bütschi F., Rapin B., Baud D., Pescia G., Robyr D., Superti-Furga A., Unger S., 2020/11. Journal of human genetics, 65 (11) pp. 1035-1038. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_250C664EBA51]
Spatial control of nucleoporin condensation by fragile X-related proteins.
Agote-Aran A., Schmucker S., Jerabkova K., Jmel Boyer I., Berto A., Pacini L., Ronchi P., Kleiss C., Guerard L., Schwab Y. et al., 2020/10/15. The EMBO journal, 39 (20) pp. e104467. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_F93EA3DA3D5C]
Hypertrophie ventriculaire gauche isolée : et si c’était une maladie de Fabry ? [Isolated left ventricular hypertrophy : is it a Fabry disease?]
Barbey F., Dormond O., Monzambani V., Barbey G., Namdar M., Monney P., 2020/10/07. Revue medicale suisse, 16 (709) pp. 1886-1890. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_08D864873FA7]
 
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).
Vera G., Sorlin A., Delplancq G., Lecoquierre F., Brasseur-Daudruy M., Petit F., Smol T., Ziegler A., Bonneau D., Colin E. et al., 2020/10. European journal of medical genetics, 63 (10) p. 104004. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_0C00C80EBBDF]
Birt-Hogg-Dubé syndrome.
Daccord C., Good J.M., Morren M.A., Bonny O., Hohl D., Lazor R., 2020/09/30. European respiratory review, 29 (157) p. 200042. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_F8121232B809]
 
Management of Full-Thickness Macular Hole in A Genetically Confirmed Case with Usher Syndrome.
Panagiotou E.S., Papathomas T., Nikopoulos K., Koukoula S., Quinodoz M., Rehman A.U., Giannopoulos T., Rivolta C., Konstas A.G., 2020/09. Ophthalmology and therapy, 9 (3) pp. 677-684. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_2FDC1B1B06D5]
Clouds over IMD? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinics.
Gariani K., Nascimento M., Superti-Furga A., Tran C., 2020/08/18. Orphanet journal of rare diseases, 15 (1) p. 210. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_F18ECE2A85F7]
 
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.
Bedoni N., Quinodoz M., Pinelli M., Cappuccio G., Torella A., Nigro V., Testa F., Simonelli F., TUDP (Telethon Undiagnosed Disease Program), Corton M. et al., 2020/08/03. Human molecular genetics, 29 (13) pp. 2250-2260. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_1FB698775904]
Genetic spectrum of retinal dystrophies in Tunisia.
Habibi I., Falfoul Y., Turki A., Hassairi A., El Matri K., Chebil A., Schorderet D.F., El Matri L., 2020/07/08. Scientific reports, 10 (1) p. 11199. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_6862846BF33D]
Osteogenesis imperfecta: towards an individualised interdisciplinary care strategy to improve physical activity and quality of life.
Aubry-Rozier B., Richard C., Unger S., Hans D., Campos-Xavier B., Schneider P., Paquier C., Pasche J., Bonafé L., Bregou A., 2020/06/28. Swiss medical weekly, 150 pp. w20285. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_A330A444E1E9]
Dysfonction sinusale, syndrome de Brugada et syndrome du QT long chez un même patient - Quand la génétique y perd son latin [Sinus node dysfunction, Brugada syndrome and long QT syndrome affecting the same patient : when genetics can't make head or tail of it]
Porretta A.P., Davoine E., Superti-Furga A., Bhuiyan Z.A., Domenichini G., Herrera Siklody C., Pascale P., Haddad C., Schläpfer J., Pruvot É., 2020/06/03. Revue medicale suisse, 16 (696) pp. 1148-1152. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_BDD3E3FCB0E0]
Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation.
Härter B., Benedicenti F., Karall D., Lausch E., Schweigmann G., Stanzial F., Superti-Furga A., Scholl-Bürgi S., 2020/06. Molecular genetics & genomic medicine, 8 (6) pp. e1203. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_408DF9868F37]
Combined Lung and Liver Transplantation for Short Telomere Syndrome.
Moschouri E., Vionnet J., Giostra E., Daccord C., Lazor R., Sciarra A., Letovanec I., Sempoux C., Gonzalez M., Unger S. et al., 2020/06. Liver transplantation, 26 (6) pp. 840-844. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_67847DD9BC0A]
Primrose syndrome: Characterization of the phenotype in 42 patients.
Melis D., Carvalho D., Barbaro-Dieber T., Espay A.J., Gambello M.J., Gener B., Gerkes E., Hitzert M.M., Hove H.B., Jansen S. et al., 2020/06. Clinical genetics, 97 (6) pp. 890-901. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_2E4B9C181A07]
 
Ligand Binding to the Collagen VI Receptor Triggers a Talin-to-RhoA Switch that Regulates Receptor Endocytosis.
Bürgi J., Abrami L., Castanon I., Abriata L.A., Kunz B., Yan S.E., Lera M., Unger S., Superti-Furga A., Peraro M.D. et al., 2020/05/18. Developmental cell, 53 (4) pp. 418-430.e4. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_589E9F0B5581]
Skeletal Dysplasias Caused by Sulfation Defects.
Paganini C., Gramegna Tota C., Superti-Furga A., Rossi A., 2020/04/14. International journal of molecular sciences, 21 (8) p. 2710. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_0257CE41F1A7]
The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers-Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases.
Kumps C., Campos-Xavier B., Hilhorst-Hofstee Y., Marcelis C., Kraenzlin M., Fleischer N., Unger S., Superti-Furga A., 2020/04/14. Genes, 11 (4) p. 420. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_DA412F996FF0]
A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer.
Wagner A.H., Walsh B., Mayfield G., Tamborero D., Sonkin D., Krysiak K., Deu-Pons J., Duren R.P., Gao J., McMurry J. et al., 2020/04. Nature genetics, 52 (4) pp. 448-457. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_20B4C06420B1]
 
A New Variant in the MYH11 Gene in a Familial Case of Thoracic Aortic Aneurysm.
Pucci L., Pointet A., Good J.M., Davoine E., Cina V., Zanchi F., Deglise S., Duchosal L.M., Kirsch M., 2020/04. The Annals of thoracic surgery, 109 (4) pp. e279-e281. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_3CCA95B6B94E]
 
Detection of rare reciprocal RUNX1 rearrangements by next-generation sequencing in acute myeloid leukemia.
Flach J., Shumilov E., Joncourt R., Porret N., Tchinda J., Legros M., Scarpelli I., Hewer E., Novak U., Schoumans J. et al., 2020/04. Genes, chromosomes & cancer, 59 (4) pp. 268-274. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_EC558447CA4C]
 
Is height important for quality of life in children with skeletal dysplasias?
Lorne H., Newman C.J., Unger S., 2020/04. European journal of medical genetics, 63 (4) p. 103816. Peer-reviewed.
[DOI][Pmid][serval:BIB_217CDD2DB009]
Correction: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia.
Sønderby I.E., Gústafsson Ó., Doan N.T., Hibar D.P., Martin-Brevet S., Abdellaoui A., Ames D., Amunts K., Andersson M., Armstrong N.J. et al., 2020/03. Molecular psychiatry, 25 (3) pp. 692-695. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_4A25E69718FB]
CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.
Mizumoto S., Janecke A.R., Sadeghpour A., Povysil G., McDonald M.T., Unger S., Greber-Platzer S., Deak K.L., Katsanis N., Superti-Furga A. et al., 2020/03. Human mutation, 41 (3) pp. 655-667. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_CED95552EEA3]
Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia.
Sønderby I.E., Gústafsson Ó., Doan N.T., Hibar D.P., Martin-Brevet S., Abdellaoui A., Ames D., Amunts K., Andersson M., Armstrong N.J. et al., 2020/03. Molecular psychiatry, 25 (3) pp. 584-602. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_8D048DECAD90]
 
Fabry disease genotype, phenotype, and migalastat amenability: Insights from a national cohort.
Nowak A., Huynh-Do U., Krayenbuehl P.A., Beuschlein F., Schiffmann R., Barbey F., 2020/03. Journal of inherited metabolic disease, 43 (2) pp. 326-333. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_35E3CB7D1D2B]
Votre analyse : avec ou sans conseil génétique ? []
Met-Domestici M., Unger S., 2020/02/19. Revue medicale suisse, 16 (682) pp. 374-376. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_B7DD92A02EC4]
 
Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males.
Oliveira J.P., Nowak A., Barbey F., Torres M., Nunes J.P., Teixeira-E-Costa F., Carvalho F., Sampaio S., Tavares I., Pereira O. et al., 2020/02. European journal of medical genetics, 63 (2) p. 103703. Peer-reviewed.
[DOI][Pmid][serval:BIB_8A051DBE6C82]
Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature.
Bastos F., Quinodoz M., Addor M.C., Royer-Bertrand B., Fodstad H., Rivolta C., Poloni C., Superti-Furga A., Roulet-Perez E., Lebon S., 2020/01/13. BMC neurology, 20 (1) p. 17. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_8835342E4A2F]
ACTN2 variant associated with a cardiac phenotype suggestive of left-dominant arrhythmogenic cardiomyopathy.
Good J.M., Fellmann F., Bhuiyan Z.A., Rotman S., Pruvot E., Schläpfer J., 2020/01. HeartRhythm case reports, 6 (1) pp. 15-19. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_8C524F2FEC93]
 
Multiplex targeted high-throughput sequencing in a series of 352 patients with congenital limb malformations.
Jourdain A.S., Petit F., Odou M.F., Balduyck M., Brunelle P., Dufour W., Boussion S., Brischoux-Boucher E., Colson C., Dieux A. et al., 2020/01. Human mutation, 41 (1) pp. 222-239. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_86483F318E58]
 
Physicians communicating with women at genetic risk of breast and ovarian cancer: Are we in the middle of the ford between contradictory messages and unshared decision making?
Fadda M., Chappuis P.O., Katapodi M.C., Pagani O., Monnerat C., Membrez V., Unger S., Caiata Zufferey M., 2020. PloS one, 15 (10) pp. e0240054. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_491D68830C89]
Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin Therapy.
Van Winckel G., Ballhausen D., Wolf B., Procter M., Mao R., Burda P., Strambo D., Kuntzer T., Tran C., 2020. Frontiers in neurology, 11 p. 516799. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_055AA4A36D35]
2019
Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4.
Rehman A.U., Peter V.G., Quinodoz M., Rashid A., Khan S.A., Superti-Furga A., Rivolta C., 2019/12/21. Genes, 11 (1). Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_2FF63BD2181F]
 
Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia.
Kariminejad A., Szenker-Ravi E., Lekszas C., Tajsharghi H., Moslemi A.R., Naert T., Tran H.T., Ahangari F., Rajaei M., Nasseri M. et al., 2019/12/05. American journal of human genetics, 105 (6) pp. 1294-1301. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_2B1E99159557]
 
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.
Frints SGM, Hennig F., Colombo R., Jacquemont S., Terhal P., Zimmerman H.H., Hunt D., Mendelsohn B.A., Kordaß U., Webster R. et al., 2019/12. Human mutation, 40 (12) pp. 2270-2285. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_753B7D2B2637]
 
Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations.
Cárdenas-de-la-Parra A., Martin-Brevet S., Moreau C., Rodriguez-Herreros B., Fonov V.S., Maillard A.M., Zürcher N.R., 16p11.2 European Consortium, Hadjikhani N., Beckmann J.S. et al., 2019/12. NeuroImage, 203 p. 116155. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_5A4DF428C3C1]
European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death.
Fellmann F., van El C.G., Charron P., Michaud K., Howard H.C., Boers S.N., Clarke A.J., Duguet A.M., Forzano F., Kauferstein S. et al., 2019/12. European journal of human genetics, 27 (12) pp. 1763-1773. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_1F50978130CD]
 
Nosology and classification of genetic skeletal disorders: 2019 revision.
Mortier G.R., Cohn D.H., Cormier-Daire V., Hall C., Krakow D., Mundlos S., Nishimura G., Robertson S., Sangiorgi L., Savarirayan R. et al., 2019/12. American journal of medical genetics. Part A, 179 (12) pp. 2393-2419. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_3FCA33964CB5]
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene.
Peter V.G., Quinodoz M., Pinto-Basto J., Sousa S.B., Di Gioia S.A., Soares G., Ferraz Leal G., Silva E.D., Pescini Gobert R., Miyake N. et al., 2019/12. Genetics in medicine, 21 (12) pp. 2734-2743. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_E8A5E155FB34]
Tests génétiques préimplantatoires : enjeux légaux et éthiques dans la pratique clinique [Preimplantation genetic testing: legal and ethical aspects in clinical practice]
Simon J.P., Pradervand P.A., Cina V., Superti-Furga A., Primi M.P., Leyvraz-Recrosio C., Fischer M., Vulliemoz N., 2019/10/23. Revue medicale suisse, 15 (668) pp. 1909-1913. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_9D32B263CCEE]
Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.
Caraffi S.G., Maini I., Ivanovski I., Pollazzon M., Giangiobbe S., Valli M., Rossi A., Sassi S., Faccioli S., Rocco M.D. et al., 2019/10/12. Genes, 10 (10). Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_A45F263542B7]
 
Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry.
Crotti L., Spazzolini C., Tester D.J., Ghidoni A., Baruteau A.E., Beckmann B.M., Behr E.R., Bennett J.S., Bezzina C.R., Bhuiyan Z.A. et al., 2019/09/14. European heart journal, 40 (35) pp. 2964-2975. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_59356BCA7069]
 
Education and training in adult metabolic medicine: Results of an international survey.
Sechi A., Fabbro E., Langeveld M., Tullio A., Lachmann R., Mochel F., SSIEM Adult Physicians Metabolic Group, 2019/09. JIMD reports, 49 (1) pp. 63-69. Peer-reviewed.
[DOI][Pmid][serval:BIB_CD57D31D37EF]
 
Genetic Mosaicism in Calmodulinopathy.
Wren L.M., Jiménez-Jáimez J., Al-Ghamdi S., Al-Aama J.Y., Bdeir A., Al-Hassnan Z.N., Kuan J.L., Foo R.Y., Potet F., Johnson C.N. et al., 2019/09. Circulation. Genomic and precision medicine, 12 (9) pp. 375-385. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_8BC6ECFEAA31]
ABC des polypes coliques [Abecedary of colonic polyps]
Archanioti P., Bornand A., Sempoux C., Unger S., Schoepfer A., Robert M., David G., 2019/08/28. Revue medicale suisse, 15 (660) pp. 1483-1487. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_FF16EF63063D]
Syndrome d’Alagille [Alagille Syndrome]
Wakim El-Khoury J., Venetz J.P., Rutz T., Sciarra A., Unger S., Sempoux C., Moradpour D., Fraga M., 2019/08/28. Revue medicale suisse, 15 (660) pp. 1506-1510. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_ABC011209ABD]
 
Bone and connective tissue disorders caused by defects in glycosaminoglycan biosynthesis: a panoramic view.
Paganini C., Costantini R., Superti-Furga A., Rossi A., 2019/08. The FEBS journal, 286 (15) pp. 3008-3032. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_606EDC8CBB95]
 
Cellular circadian period length inversely correlates with HbA<sub>1c</sub> levels in individuals with type 2 diabetes.
Sinturel F., Makhlouf A.M., Meyer P., Tran C., Pataky Z., Golay A., Rey G., Howald C., Dermitzakis E.T., Pichard C. et al., 2019/08. Diabetologia, 62 (8) pp. 1453-1462. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_5E930758B719]
 
Clinical and genetic analysis of long QT syndrome in two Malay children.
Wong A.R., Zilfalil B.A., Bhuiyan Z.A., 2019/08. The Medical journal of Malaysia, 74 (4) pp. 341-343. Peer-reviewed.
[Pmid][serval:BIB_1F1BA610CC52]
European recommendations and quality assurance for cytogenomic analysis of haematological neoplasms
Rack K. A., van den Berg E., Haferlach C., Beverloo H. B., Costa D., Espinet B., Foot N., Jeffries S., Martin K., O'Connor S. et al., 2019/08. Leukemia, 33 (8) pp. 1851-1867. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_FAE142D5FE6C]
 
La profession de conseiller en génétique en Suisse []
Cina V., Met-Domestici M., Davoine E., Ayme A., Brockmann C., Cordier C., Murphy A., 2019/06/19. Revue medicale suisse, 15 (656) pp. 1291-1293. Peer-reviewed.
[Pmid][serval:BIB_BF9E92BFC012]
 
In vitro models to study insulin and glucocorticoids modulation of trimethyltin (TMT)-induced neuroinflammation and neurodegeneration, and in vivo validation in db/db mice.
Sandström J., Kratschmar D.V., Broyer A., Poirot O., Marbet P., Chantong B., Zufferey F., Dos Santos T., Boccard J., Chrast R. et al., 2019/06. Archives of toxicology, 93 (6) pp. 1649-1664. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_D7E0994E9422]
 
Influence of anxiety and alexithymia on brain activations associated with the perception of others' pain in autism.
Lassalle A., Zürcher N.R., Porro C.A., Benuzzi F., Hippolyte L., Lemonnier E., Åsberg Johnels J., Hadjikhani N., 2019/06. Social neuroscience, 14 (3) pp. 359-377. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_18E067326184]
Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant.
Royer-Bertrand B., Tsouni P., Mullen P., Campos Xavier B., Mittaz Crettol L., Lobrinus A.J., Ghika J., Baumgartner M.R., Rivolta C., Superti-Furga A. et al., 2019/06. Annals of clinical and translational neurology, 6 (6) pp. 1072-1080. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_A5E82CF1AF17]
 
Diabète, cancer et obésité : une relation sans équivoque [Diabetes, cancer and obesity : unequivocal association]
Tran C., 2019/05/29..
[Pmid][serval:BIB_B16311D48DF3]
 
Hypermobile Ehlers-Danlos-like syndrome in Fabry disease.
Barbey F., Lidove O., Dormond O., 2019/05. Clinical genetics, 95 (5) pp. 627-628. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_3DE47A8B1005]
The natural history of classic galactosemia: lessons from the GalNet registry.
Rubio-Gozalbo M.E., Haskovic M., Bosch A.M., Burnyte B., Coelho A.I., Cassiman D., Couce M.L., Dawson C., Demirbas D., Derks T. et al., 2019/04/27. Orphanet journal of rare diseases, 14 (1) p. 86. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_BBDB95ECC854]
 
A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa.
Peter V.G., Nikopoulos K., Quinodoz M., Granse L., Farinelli P., Superti-Furga A., Andréasson S., Rivolta C., 2019/04. Ophthalmic genetics, 40 (2) pp. 177-181. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_082BF22F4E9C]
Odyssée diagnostique lors de douleurs neuropathiques
Job Christophe, Barman-Akszen Jasmin, Kuntzer Thierry, Nagy Monika, Gachoud David, Vollenweider Peter, Minder Elisabeth I., Tran Christel, Jaccard Evrim, 2019/03/27. Forum Médical Suisse ‒ Swiss Medical Forum.
[URN][DOI][serval:BIB_61EAC7F52304]
 
Correction: Psychiatric disorders in children with 16p11.2 deletion and duplication.
Niarchou M., Chawner SJRA, Doherty J.L., Maillard A.M., Jacquemont S., Chung W.K., Green-Snyder L., Bernier R.A., Goin-Kochel R.P., Hanson E. et al., 2019/03/05..
[DOI][WoS][Pmid][serval:BIB_F226247C7F6B]
 
Hepatosplenomegaly, pneumopathy, bone changes and fronto-temporal dementia: Niemann-Pick type B and SQSTM1-associated Paget's disease in the same individual.
Voinea C., Gonzalez Rodriguez E., Beigelman-Aubry C., Leroy V., Aubry-Rozier B., Campos-Xavier B., Ballhausen D., Lazor R., Barbey F., Bonafé L. et al., 2019/03. Journal of bone and mineral metabolism, 37 (2) pp. 378-383. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_11FF7C377058]
 
Identification of novel LFNG mutations in spondylocostal dysostosis.
Otomo N., Mizumoto S., Lu H.F., Takeda K., Campos-Xavier B., Mittaz-Crettol L., Guo L., Takikawa K., Nakamura M., Yamada S. et al., 2019/03. Journal of human genetics, 64 (3) pp. 261-264. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_4BE03C294537]
 
Lamin B receptor-related disorder is associated with a spectrum of skeletal dysplasia phenotypes.
Thompson E., Abdalla E., Superti-Furga A., McAlister W., Kratz L., Unger S., Royer-Bertrand B., Campos-Xavier B., Mittaz-Crettol L., Amin A.K. et al., 2019/03. Bone, 120 pp. 354-363. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_7E21E815D10E]
 
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.
Huemer M., Diodato D., Martinelli D., Olivieri G., Blom H., Gleich F., Kölker S., Kožich V., Morris A.A., Seifert B. et al., 2019/03. Journal of inherited metabolic disease, 42 (2) pp. 333-352. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_D06F42D28EF4]
 
Progressive pseudorheumatoid dysplasia: a rare childhood disease.
Torreggiani S., Torcoletti M., Campos-Xavier B., Baldo F., Agostoni C., Superti-Furga A., Filocamo G., 2019/03. Rheumatology international, 39 (3) pp. 441-452. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_D0D0FB23BE11]
Hypomorphic mutations of TRIP11 cause odontochondrodysplasia.
Wehrle A., Witkos T.M., Unger S., Schneider J., Follit J.A., Hermann J., Welting T., Fano V., Hietala M., Vatanavicharn N. et al., 2019/02/07. JCI insight, 4 (3) pp. e124701. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_FFBC7D52BB3D]
 
Altered interplay between endoplasmic reticulum and mitochondria in Charcot-Marie-Tooth type 2A neuropathy.
Bernard-Marissal N., van Hameren G., Juneja M., Pellegrino C., Louhivuori L., Bartesaghi L., Rochat C., El Mansour O., Médard J.J., Croisier M. et al., 2019/02/05. Proceedings of the National Academy of Sciences of the United States of America, 116 (6) pp. 2328-2337. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_B23B657B4923]
 
Pupillary Contagion in Autism.
Galazka M.A., Åsberg Johnels J., Zürcher N.R., Hippolyte L., Lemonnier E., Billstedt E., Gillberg C., Hadjikhani N., 2019/02. Psychological science, 30 (2) pp. 309-315. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_B15FB8BFE3D8]
The Global State of the Genetic Counseling Profession.
Abacan M., Alsubaie L., Barlow-Stewart K., Caanen B., Cordier C., Courtney E., Davoine E., Edwards J., Elackatt N.J., Gardiner K. et al., 2019/02. European journal of human genetics, 27 (2) pp. 183-197. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_111EF7D55477]
Psychiatric disorders in children with 16p11.2 deletion and duplication.
Niarchou M., Chawner SJRA, Doherty J.L., Maillard A.M., Jacquemont S., Chung W.K., Green-Snyder L., Bernier R.A., Goin-Kochel R.P., Hanson E. et al., 2019/01/16. Translational psychiatry, 9 (1) p. 8. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_7215F92283AE]
Digenic Inheritance of LAMA4 and MYH7 Mutations in Patient with Infantile Dilated Cardiomyopathy.
Abdallah A.M., Carlus S.J., Al-Mazroea A.H., Alluqmani M., Almohammadi Y., Bhuiyan Z.A., Al-Harbi K.M., 2019/01/15. Medicina, 55 (1). Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_6BB4100832F1]
 
Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1.
van Kuilenburg ABP, Meijer J., Meinsma R., Pérez-Dueñas B., Alders M., Bhuiyan Z.A., Artuch R., Hennekam RCM, 2019. JIMD reports, 45 pp. 65-69. Peer-reviewed.
[DOI][Pmid][serval:BIB_F71A7A629C1A]
 
Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients.
Nampoothiri S., Elcioglu N.H., Koca S.S., Yesodharan D., Kk C., Krishnan V., Bhat M., Mohandas Nair K, Radhakrishnan N., Kappanayil M. et al., 2019/01. Clinical dysmorphology, 28 (1) pp. 7-16. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_4B4DB483F7A2]
 
L’anémie mégaloblastique thiamine dépendante ou syndrome de Rogers : une revue de la littérature [Thiamine-responsive megaloblastic anemia or Rogers syndrome: A literature review]
Lu H., Lu H., Vaucher J., Tran C., Vollenweider P., Castioni J., 2019/01. La Revue de medecine interne, 40 (1) pp. 20-27. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_F55EAC609218]
2018
 
Confirmation of spondylo-epi-metaphyseal dysplasia with joint laxity, EXOC6B type.
Campos-Xavier B., Rogers R.C., Niel-Bütschi F., Ferreira C., Unger S., Spranger J., Superti-Furga A., 2018/12. American journal of medical genetics. Part A, 176 (12) pp. 2934-2935. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_923350BBEBB0]
Mavoglurant in Fragile X Syndrome: Results of two open-label, extension trials in adults and adolescents.
Hagerman R., Jacquemont S., Berry-Kravis E., Des Portes V., Stanfield A., Koumaras B., Rosenkranz G., Murgia A., Wolf C., Apostol G. et al., 2018/11/19. Scientific reports, 8 (1) p. 16970. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_A32BBFA25741]
 
Long-term Outcomes of Kidney Transplantation in Fabry Disease.
Ersözlü S., Desnick R.J., Huynh-Do U., Canaan-Kühl S., Barbey F., Genitsch V., Mueller T.F., Cheetham M., Flammer A.J., Schaub S. et al., 2018/11. Transplantation, 102 (11) pp. 1924-1933. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_A9CE7896FB30]
 
Mechanistic insight into an exonic splice defect mutation from native induced pluripotent stem cell-derived cardiomyocytes.
Bhuiyan Z.A., 2018/10. Heart rhythm, 15 (10) pp. 1575-1576. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_65927706531D]
MYC-containing amplicons in acute myeloid leukemia: genomic structures, evolution, and transcriptional consequences.
L'Abbate A., Tolomeo D., Cifola I., Severgnini M., Turchiano A., Augello B., Squeo G., D'Addabbo P., Traversa D., Daniele G. et al., 2018/10. Leukemia, 32 (10) pp. 2152-2166. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_B06CF079ED66]
 
Myoglobinuria in two patients with Duchenne muscular dystrophy after treatment with zoledronate: a case-report and call for caution.
Ivanyuk A., García Segarra N., Buclin T., Klein A., Jacquier D., Newman C.J., Bloetzer C., 2018/10. Neuromuscular disorders, 28 (10) pp. 865-867. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_7FF72A5306B3]
 
Effect of visual stimuli of pain on empathy brain network in people with and without Autism Spectrum Disorder.
Lassalle A., Zürcher N.R., Hippolyte L., Billstedt E., Porro C.A., Benuzzi F., Solomon P., Prkachin K.M., Lemonnier E., Gillberg C. et al., 2018/09. The European journal of neuroscience, 48 (6) pp. 2333-2342. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_302BEE8EEC4D]
 
Prevalence of valproate syndrome in Europe from 2005 to 2014: A registry based multi-centre study.
Morris J.K., Garne E., Loane M., Addor M.C., Barisic I., Bianchi F., Gatt M., Lanzoni M., Lynch C., Mokoroa O. et al., 2018/09. European journal of medical genetics, 61 (9) pp. 479-482. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_DCD99F62608A]
 
Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11.
De Bernardi M.L., Ivanovski I., Caraffi S.G., Maini I., Street M.E., Bayat A., Zollino M., Lepri F.R., Gnazzo M., Errichiello E. et al., 2018/09. American journal of medical genetics. Part A, 176 (9) pp. 1991-1995. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_39C7B90FA32A]
Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study.
Martin-Brevet S., Rodríguez-Herreros B., Nielsen J.A., Moreau C., Modenato C., Maillard A.M., Pain A., Richetin S., Jønch A.E., Qureshi A.Y. et al., 2018/08/15. Biological psychiatry, 84 (4) pp. 253-264. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_8964BF69CE74]
 
Adult classical homocystinuria requiring parenteral nutrition: Pitfalls and management.
Tran C., Bonafé L., Nuoffer J.M., Rieger J., Berger M.M., 2018/08. Clinical nutrition, 37 (4) pp. 1114-1120. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_FB321D4C385F]
 
Are heterozygous carriers for hereditary fructose intolerance predisposed to metabolic disturbances when exposed to fructose?
Debray F.G., Damjanovic K., Rosset R., Mittaz-Crettol L., Roux C., Braissant O., Barbey F., Bonafé L., De Bandt J.P., Tappy L. et al., 2018/08/01. The American journal of clinical nutrition, 108 (2) pp. 292-299. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_DE691607DC98]
 
The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients.
Nguyen NMP, Khawajkie Y., Mechtouf N., Rezaei M., Breguet M., Kurvinen E., Jagadeesh S., Solmaz A.E., Aguinaga M., Hemida R. et al., 2018/07. Modern pathology, 31 (7) pp. 1116-1130. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_7258B252EAA0]
Metformin exposure in first trimester of pregnancy and risk of all or specific congenital anomalies: exploratory case-control study.
Given J.E., Loane M., Garne E., Addor M.C., Bakker M., Bertaut-Nativel B., Gatt M., Klungsoyr K., Lelong N., Morgan M. et al., 2018/06/25. BMJ, 361 pp. k2477. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_EEA56E727AE3]
 
Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis.
Fiddes I.T., Lodewijk G.A., Mooring M., Bosworth C.M., Ewing A.D., Mantalas G.L., Novak A.M., van den Bout A., Bishara A., Rosenkrantz J.L. et al., 2018/05/31. Cell, 173 (6) pp. 1356-1369.e22. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_6AB4448DA6E1]
Beta-Blocker Use in Pregnancy and Risk of Specific Congenital Anomalies: A European Case-Malformed Control Study.
Bergman JEH, Lutke L.R., Gans ROB, Addor M.C., Barisic I., Cavero-Carbonell C., Garne E., Gatt M., Klungsoyr K., Lelong N. et al., 2018/04. Drug safety, 41 (4) pp. 415-427. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_8367D2490EED]
 
Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome.
Berry-Kravis E.M., Lindemann L., Jønch A.E., Apostol G., Bear M.F., Carpenter R.L., Crawley J.N., Curie A., Des Portes V., Hossain F. et al., 2018/04. Nature reviews. Drug discovery, 17 (4) pp. 280-299. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_2B2D264EDE75]
 
Long-term liver disease in methylmalonic and propionic acidemias.
Imbard A., Garcia Segarra N., Tardieu M., Broué P., Bouchereau J., Pichard S., de Baulny H.O., Slama A., Mussini C., Touati G. et al., 2018/04. Molecular genetics and metabolism, 123 (4) pp. 433-440. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_811CC7F41074]
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