Genetic Medicine

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895 publications

... | 2018 | 2017 | 2016 | 2015 | 2014 | 2013 | ...
2018
 
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]
 
Symptômes musculaires associés aux statines : quelle prise en charge en 2018 ? [Statin-associated muscle symptoms : Current management in 2018]
Kosinski C., Tran C., Kuntzer T., Rodondi N., Collet T.H., 2018/02/28. Revue medicale suisse, 14 (596) pp. 462-469. Peer-reviewed.
[Pmid][serval:BIB_4F41D506D771]
Bumetanide for autism: more eye contact, less amygdala activation.
Hadjikhani N., Åsberg Johnels J., Lassalle A., Zürcher N.R., Hippolyte L., Gillberg C., Lemonnier E., Ben-Ari Y., 2018/02/26. Scientific reports, 8 (1) p. 3602. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_412575543314]
Estimating Global Burden of Disease due to congenital anomaly: an analysis of European data.
Boyle B., Addor M.C., Arriola L., Barisic I., Bianchi F., Csáky-Szunyogh M., de Walle HEK, Dias C.M., Draper E., Gatt M. et al., 2018/01. Archives of disease in childhood. Fetal and neonatal edition, 103 (1) pp. F22-F28. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_E47F473324D2]
Genotype and clinical characteristics of congenital long QT syndrome in Thailand.
Saprungruang A., Khongphatthanayothin A., Mauleekoonphairoj J., Wandee P., Kanjanauthai S., Bhuiyan Z.A., Wilde AAM, Poovorawan Y., 2018. Indian pacing and electrophysiology journal, 18 (5) pp. 165-171. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_9009FC661638]
 
Inborn Errors of Metabolism in Adults: Clues for Nutritional Management in ICU
Tran Christel, Bonafé Luisa, 2018. pp. 133-147 dans Critical Care Nutrition Therapy for Non-nutritionists, Springer International Publishing.
[DOI][serval:BIB_224A21EF1537]
2017
 
Hypersensitivity to low intensity fearful faces in autism when fixation is constrained to the eyes.
Lassalle A., Åsberg Johnels J., Zürcher N.R., Hippolyte L., Billstedt E., Ward N., Lemonnier E., Gillberg C., Hadjikhani N., 2017/12. Human brain mapping, 38 (12) pp. 5943-5957. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_78FC07306AD9]
 
Small patella syndrome: New clinical and molecular insights into a consistent phenotype.
Vanlerberghe C., Jourdain A.S., Dieux A., Toutain A., Callewaert B., Dupuis-Girod S., Unger S., Wright M., Isidor B., Ghoumid J. et al., 2017/12. Clinical genetics, 92 (6) pp. 676-678. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_1DB03E837D37]
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.
Miyake N., Wolf N.I., Cayami F.K., Crawford J., Bley A., Bulas D., Conant A., Bent S.J., Gripp K.W., Hahn A. et al., 2017/12. Neurogenetics, 18 (4) pp. 185-194. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_8DE9A339FE79]
 
Erratum: Large meta-analysis of genome-wide association studies identifies five loci for lean body mass.
Zillikens M.C., Demissie S., Hsu Y.H., Yerges-Armstrong L.M., Chou W.C., Stolk L., Livshits G., Broer L., Johnson T., Koller D.L. et al., 2017/11/07..
[DOI][WoS][Pmid][serval:BIB_25A24686E76E]
 
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".
Lee C.S., Fu H., Baratang N., Rousseau J., Kumra H., Sutton V.R., Niceta M., Ciolfi A., Yamamoto G., Bertola D. et al., 2017/11/02. American journal of human genetics, 101 (5) pp. 815-823. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_D12E5334C4E8]
 
Gastroschisis in Europe - A Case-malformed-Control Study of Medication and Maternal Illness during Pregnancy as Risk Factors.
Given J.E., Loane M., Garne E., Nelen V., Barisic I., Randrianaivo H., Khoshnood B., Wiesel A., Rissmann A., Lynch C. et al., 2017/11. Paediatric and perinatal epidemiology, 31 (6) pp. 549-559. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_06CE9B795C24]
 
Impact of cytogenetic abnormalities in adults with Ph-negative B-cell precursor acute lymphoblastic leukemia.
Lafage-Pochitaloff M., Baranger L., Hunault M., Cuccuini W., Lefebvre C., Bidet A., Tigaud I., Eclache V., Delabesse E., Bilhou-Nabéra C. et al., 2017/10/19. Blood, 130 (16) pp. 1832-1844. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_3A8ECBCD0110]
 
Cardiology in the Post-Genomic Era : Road to Personalized Medicine
Bhuiyan Zahurul A, 2017/10/10. Bangladesh Heart Journal, 32 (1) pp. 1-2. Peer-reviewed.
[DOI][serval:BIB_D9FBBD74949C]
CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits.
Macé A., Tuke M.A., Deelen P., Kristiansson K., Mattsson H., Nõukas M., Sapkota Y., Schick U., Porcu E., Rüeger S. et al., 2017/09/29. Nature communications, 8 (1) p. 744. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_220FBAC01D96]
 
Gastroschisis in Europe - A prevalence and case-malformed control study
Given JE, Loane M, Nelen V, Barisic I, Addor MC, Randrianaivo .H, Khoshnood. B, Wiesel. A, Rissmann. A, Lynch. C et al., 2017/09/15., 45th Annual Confernce of the European Teratology Society dans Reproductive Toxicology.
[serval:BIB_0695305DAF6A]
Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia.
Bdier A.Y., Al-Ghamdi S., Verma P.K., Dagriri K., Alshehri B., Jiman O.A., Ahmed S.E., Wilde AAM, Bhuiyan Z.A., Al-Aama J.Y., 2017/09. Molecular genetics & genomic medicine, 5 (5) pp. 592-601. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_137B62B23653]
 
Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.
Grünert S.C., Schmitt R.N., Schlatter S.M., Gemperle-Britschgi C., Balcı M.C., Berg V., Çoker M., Das A.M., Demirkol M., Derks TGJ et al., 2017/09. Molecular genetics and metabolism, 122 (1-2) pp. 67-75. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_3A6A9A0F745A]
 
Genetic disorders of bone - An historical perspective.
Superti-Furga A., Unger S., 2017/09. Bone, 102 pp. 1-4. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_570DD056A815]
 
Issues with European guidelines for phenylketonuria.
Burgard P., Ullrich K., Ballhausen D., Hennermann J.B., Hollak CEM, Langeveld M., Karall D., Konstantopoulou V., Maier E.M., Lang F. et al., 2017/09. The lancet. Diabetes & endocrinology, 5 (9) pp. 681-683. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_EA6F280DFC0C]
Interaction between the FTO gene, body mass index and depression: meta-analysis of 13701 individuals.
Rivera M., Locke A.E., Corre T., Czamara D., Wolf C., Ching-Lopez A., Milaneschi Y., Kloiber S., Cohen-Woods S., Rucker J. et al., 2017/08. The British journal of psychiatry, 211 (2) pp. 70-76. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_8FEC91DF2193]
 
Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?
Le Gall J., Nizon M., Pichon O., Andrieux J., Audebert-Bellanger S., Baron S., Beneteau C., Bilan F., Boute O., Busa T. et al., 2017/08. European journal of human genetics, 25 (8) pp. 930-934. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_46E1DA598950]
Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability.
Reggiani C., Coppens S., Sekhara T., Dimov I., Pichon B., Lufin N., Addor M.C., Belligni E.F., Digilio M.C., Faletra F. et al., 2017/07/19. Genome medicine, 9 (1) p. 67. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_EBFCA5108DAA]
 
Long-term outcome of patients with X-linked adrenoleukodystrophy: A retrospective cohort study.
Tran C., Patel J., Stacy H., Mamak E.G., Faghfoury H., Raiman J., Clarke JTR, Blaser S., Mercimek-Mahmutoglu S., 2017/07. European journal of paediatric neurology, 21 (4) pp. 600-609. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_204A49AFC05E]
Look me in the eyes: constraining gaze in the eye-region provokes abnormally high subcortical activation in autism.
Hadjikhani N., Åsberg Johnels J., Zürcher N.R., Lassalle A., Guillon Q., Hippolyte L., Billstedt E., Ward N., Lemonnier E., Gillberg C., 2017/06/09. Scientific reports, 7 (1) p. 3163. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_676905E02B4A]
 
Consultation multidisciplinaire de cardiogénétique [Multidisciplinary cardiogenetic counselling]
Fellmann F., Jeanrenaud X., Sekarski N., Michaud K., Hersch D., Fodstad H., Bhuiyan Z.A., Schläpfer J., 2017/05/24. Revue medicale suisse, 13 (564) pp. 1094-1099. Peer-reviewed.
[Pmid][serval:BIB_F87EBD35468B]
 
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.
Wade E.M., Jenkins Z.A., Daniel P.B., Morgan T., Addor M.C., Adés L.C., Bertola D., Bohring A., Carter E., Cho T.J. et al., 2017/05/12. American journal of medical genetics. Part A, 173 (7) pp. 1730-1746. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_1A54928B107C]
 
Autism and emotional face-viewing.
Åsberg Johnels J., Hovey D., Zürcher N., Hippolyte L., Lemonnier E., Gillberg C., Hadjikhani N., 2017/05. Autism research, 10 (5) pp. 901-910. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_D5C59DD89CD1]
 
The changing epidemiology of Ebstein's anomaly and its relationship with maternal mental health conditions: a European registry-based study.
Boyle B., Garne E., Loane M., Addor M.C., Arriola L., Cavero-Carbonell C., Gatt M., Lelong N., Lynch C., Nelen V. et al., 2017/05. Cardiology in the young, 27 (4) pp. 677-685. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_CCE740B1061F]
 
Séquençage à haut débit : outil de diagnostic des déficits immunitaires héréditaires [Next generation sequencing : a diagnostic tool for inherited immune defects]
Droz-Georget S., Riccio O., Royer-Bertrand B., Superti-Furga A., Candotti F., 2017/04/05. Revue medicale suisse, 13 (557) pp. 763-766. Peer-reviewed.
[Pmid][serval:BIB_5CC64A51219F]
Inborn Errors of Fructose Metabolism. What Can We Learn from Them?
Tran C., 2017/04/03. Nutrients, 9 (4) p. 0. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_74F1B1039AC3]
Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.
Graff M., Scott R.A., Justice A.E., Young K.L., Feitosa M.F., Barata L., Winkler T.W., Chu A.Y., Mahajan A., Hadley D. et al., 2017/04. PLoS genetics, 13 (4) pp. e1006528. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_C0CBE3B529A2]
Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections.
Meester J.A., Vandeweyer G., Pintelon I., Lammens M., Van Hoorick L., De Belder S., Waitzman K., Young L., Markham L.W., Vogt J. et al., 2017/04. Genetics in medicine, 19 (4) pp. 386-395. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_BC357EF48A1B]
 
Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?
El Chehadeh S., Touraine R., Prieur F., Reardon W., Bienvenu T., Chantot-Bastaraud S., Doco-Fenzy M., Landais E., Philippe C., Marle N. et al., 2017/04. Clinical genetics, 91 (4) pp. 576-588. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_7C85AAC15298]
Cell-Cell Contact Area Affects Notch Signaling and Notch-Dependent Patterning.
Shaya O., Binshtok U., Hersch M., Rivkin D., Weinreb S., Amir-Zilberstein L., Khamaisi B., Oppenheim O., Desai R.A., Goodyear R.J. et al., 2017/03/13. Developmental cell, 40 (5) pp. 505-511.e6. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_FA8DF526122D]
EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.
Volpi S., Yamazaki Y., Brauer P.M., van Rooijen E., Hayashida A., Slavotinek A., Sun Kuehn H., Di Rocco M., Rivolta C., Bortolomai I. et al., 2017/03/06. The Journal of experimental medicine, 214 (3) pp. 623-637. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_A5331400A820]
 
Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.
Machol K., Jain M., Almannai M., Orand T., Lu J.T., Tran A., Chen Y., Schlesinger A., Gibbs R., Bonafe L. et al., 2017/03. American journal of medical genetics. Part A, 173 (3) pp. 733-739. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_B512148737EB]
 
The molecular basis of breast cancer pathological phenotypes.
Heng Y.J., Lester S.C., Tse G.M., Factor R.E., Allison K.H., Collins L.C., Chen Y.Y., Jensen K.C., Johnson N.B., Jeong J.C. et al., 2017/02. The Journal of pathology, 241 (3) pp. 375-391. Peer-reviewed.
[DOI][Pmid][serval:BIB_F7EC506788FE]
 
L’interniste face aux maladies rares: quand y penser? L’exemple des maladies mitochondriales [Raising the internist's know-how in the field of rare diseases: mitochondrial diseases as an illustrative example]
Tran C., Serratrice J., Nuoffer J.M., Schaller A., Favrat B., Barbey F., Lobrinus J.A., Kern I., Kuntzer T., Ballhausen D., 2017/01/18. Revue medicale suisse, 13 (546) pp. 159-163. Peer-reviewed.
[Pmid][serval:BIB_650D557013F1]
Ascending aortic remodelling in Fabry disease after long-term enzyme replacement therapy.
Monney P., Qanadli S.D., Hajdu S., Tran C., Schwitter J., Dormond O., Barbey F., 2017. Swiss medical weekly, 147 pp. w14517. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_07EEEE6624BD]
 
Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity.
Vodopiutz J., Mizumoto S., Lausch E., Rossi A., Unger S., Janocha N., Costantini R., Seidl R., Greber-Platzer S., Yamada S. et al., 2017/01. Human mutation, 38 (1) pp. 34-38. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_33E3753767A6]
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.
Loviglio M.N., Leleu M., Männik K., Passeggeri M., Giannuzzi G., van der Werf I., Waszak S.M., Zazhytska M., Roberts-Caldeira I., Gheldof N. et al., 2017. Molecular Psychiatry, 22 (6) pp. 836-849. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_8773892CB036]
Laboratory Genetic Testing in Clinical Practice 2016.
Cogulu O., Schoumans J., Toruner G., Demkow U., Karaca E., Durmaz A.A., 2017. BioMed research international, 2017 p. 5798714. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_735C936910F9]
 
Pulmonary Involvement in Adult Patients with Inborn Errors of Metabolism.
Tran C., Barbey F., Lazor R., Bonafé L., 2017. Respiration; international review of thoracic diseases, 94 (1) pp. 2-13. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_AB71CE024522]
 
SGPP 17: Glycogen storage disease Ib and hereditary spherocytosis: the diagnostic challenge of concomittant rare diseases
Perez MM, Fodstad H., Nydegger A., Chehade H., Prsa M., Renella R., Ballhausen D., 2017. pp. 74S dans Swiss Medical Weekly.
[WoS][serval:BIB_DF1EE76765AB]
 
The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs.
Loviglio M.N., Arbogast T., Jønch A.E., Collins S.C., Popadin K., Bonnet C.S., Giannuzzi G., Maillard A.M., Jacquemont S., 16p11.2 Consortium et al., 2017. American Journal of Human Genetics, 101 (4) pp. 564-577. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_12249EC890B3]
2016
TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT.
Devalla H.D., Gélinas R., Aburawi E.H., Beqqali A., Goyette P., Freund C., Chaix M.A., Tadros R., Jiang H., Le Béchec A. et al., 2016/12. EMBO molecular medicine, 8 (12) pp. 1390-1408. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_EB060DB2BDA6]
Patients avec variation du développement sexuel : un exemple de prise en charge interdisciplinaire [Patients with variations of sex development : an example of interdisciplinary care]
Phan-Hug F., Kraus C., Paoloni-Giacobino A., Fellmann F., Typaldou S.A., Ansermet F., Alamo L., Eggert N., Pelet O., Vial Y. et al., 2016/11/09. Revue medicale suisse, 12 (538) pp. 1923-1929. Peer-reviewed.
[URN][Pmid][serval:BIB_2DD8B1652010]
 
New quality measure for SNP array based CNV detection.
Macé A., Tuke M.A., Beckmann J.S., Lin L., Jacquemont S., Weedon M.N., Reymond A., Kutalik Z., 2016/11/01. Bioinformatics (Oxford, England), 32 (21) pp. 3298-3305. Peer-reviewed.
[DOI][Pmid][serval:BIB_ACB3FE673051]
 
Lineage-specific BCL11A knockdown circumvents toxicities and reverses sickle phenotype.
Brendel C., Guda S., Renella R., Bauer D.E., Canver M.C., Kim Y.J., Heeney M.M., Klatt D., Fogel J., Milsom M.D. et al., 2016/10/03. The Journal of clinical investigation, 126 (10) pp. 3868-3878. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_494CBB480254]
 
EUROmediCAT signal detection: a systematic method for identifying potential teratogenic medication.
Luteijn J.M., Morris J.K., Garne E., Given J., de Jong-van den Berg L., Addor M.C., Bakker M., Barisic I., Gatt M., Klungsoyr K. et al., 2016/10. British journal of clinical pharmacology, 82 (4) pp. 1110-1122. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_C28A8CF538E0]
EUROmediCAT signal detection: an evaluation of selected congenital anomaly-medication associations.
Given J.E., Loane M., Luteijn J.M., Morris J.K., de Jong van den Berg L.T., Garne E., Addor M.C., Barisic I., de Walle H., Gatt M. et al., 2016/10. British journal of clinical pharmacology, 82 (4) pp. 1094-1109. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_868199571B50]
 
Natural history and life-threatening complications in Myhre syndrome and review of the literature.
Garavelli L., Maini I., Baccilieri F., Ivanovski I., Pollazzon M., Rosato S., Iughetti L., Unger S., Superti-Furga A., Tartaglia M., 2016/10. European journal of pediatrics, 175 (10) pp. 1307-1315. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_E38F53238588]
 
Novel calmodulin mutations associated with congenital long QT syndrome affect calcium current in human cardiomyocytes.
Pipilas D.C., Johnson C.N., Webster G., Schlaepfer J., Fellmann F., Sekarski N., Wren L.M., Ogorodnik K.V., Chazin D.M., Chazin W.J. et al., 2016/10. Heart rhythm, 13 (10) pp. 2012-2019. Peer-reviewed.
[DOI][Pmid][serval:BIB_4D0474E4A1C5]
 
Sojourner in a foreign land.
Unger S., 2016/10. American journal of medical genetics. Part A, 170 (10) pp. 2594-2595. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_537E273F272E]
Prevalence of microcephaly in Europe: population based study.
Morris J.K., Rankin J., Garne E., Loane M., Greenlees R., Addor M.C., Arriola L., Barisic I., Bergman J.E., Csaky-Szunyogh M. et al., 2016/09/13. BMJ (Clinical research ed.), 354 pp. i4721.
[URN][Pmid][serval:BIB_7D152A6C8C07]
 
Genetic Analysis of Jervel and Lange Nielsen Syndrome with a Novel Mutation in KCNQ1 Gene.
Singh A., Prasad R., Singh R., Kapoor S., Bhuiyan Z.A., Mishra O.P., 2016/09. Indian journal of pediatrics, 83 (9) pp. 1038-1039. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_D563A42D6884]
 
Perinatal and neonatal mortality in pregnancies complicated by major congenital anomalies: findings from a large European cohort
Bouman K, Groen H, Haesler M, Garne E, Rissmann A, O'Mahony M, McDonnell B, Lynch C, Bianchi F, Zurriaga O et al., 2016/09., International Conference on Stillbirth, SIDS and baby survival dans 2016 International Conference on Stillbirth, SIDS and Baby Survival.
[serval:BIB_483C17F0735F]
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.
Wade E.M., Daniel P.B., Jenkins Z.A., McInerney-Leo A., Leo P., Morgan T., Addor M.C., Adès L.C., Bertola D., Bohring A. et al., 2016/08/04. American journal of human genetics, 99 (2) pp. 392-406. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_CD2DAF16D086]
 
Systemic availability of guanidinoacetate affects GABAA receptor function and seizure threshold in GAMT deficient mice.
Schulze A., Tran C., Levandovskiy V., Patel V., Cortez M.A., 2016/08. Amino acids, 48 (8) pp. 2041-2047. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_BA71A6C0C171]
The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition.
Hippolyte L., Maillard A.M., Rodriguez-Herreros B., Pain A., Martin-Brevet S., Ferrari C., Conus P., Macé A., Hadjikhani N., Metspalu A. et al., 2016/07/15. Biological psychiatry, 80 (2) pp. 129-139. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_9660DE6D30D1]
Pheochromocytoma Masked by Mutation in the TH Gene.
Abid K., Afshar K., Fontana E., Ducry J., Rotman S., Stauffer E., Fellmann F., Tschopp O., Bhuiyan Z.A., Grouzmann E., 2016/07. Clinical chemistry, 62 (7) pp. 924-928. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_475789A533F9]
<i>PIK3CA</i>-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
Mirzaa G., Timms A.E., Conti V., Boyle E.A., Girisha K.M., Martin B., Kircher M., Olds C., Juusola J., Collins S. et al., 2016/06/16. JCI insight, 1 (9) pp. 18p.. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_4CC9606A7F29]
Lamotrigine use in pregnancy and risk of orofacial cleft and other congenital anomalies.
Dolk H., Wang H., Loane M., Morris J., Garne E., Addor M.C., Arriola L., Bakker M., Barisic I., Doray B. et al., 2016/05/03. Neurology, 86 (18) pp. 1716-1725. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_96B58AD9F742]
 
16p11.2 Locus modulates response to satiety before the onset of obesity.
Maillard A.M., Hippolyte L., Rodriguez-Herreros B., Chawner S.J., Dremmel D., Agüera Z., Fagundo A.B., Pain A., Martin-Brevet S., Hilbert A. et al., 2016/05. International journal of obesity, 40 (5) pp. 870-876. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_DF2B3B0B794D]
 
A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly.
Jackson C.B., Bauer M.F., Schaller A., Kotzaeridou U., Ferrarini A., Hahn D., Chehade H., Barbey F., Tran C., Gallati S. et al., 2016/04. European journal of pediatrics, 175 (4) pp. 517-525. Peer-reviewed.
[DOI][Pmid][serval:BIB_C42E286CF071]
 
Symptomatic polymorphic ventricular tachycardia in a young woman
dos Santos Rocha André, Bhuyian Zahurul Alam, Fellmann Florence, Schlaepfer Jürg, Bovy Michèle, Delabays Alain, 2016/03/16. Cardiovascular Medicine, 19 pp. 90-94. Peer-reviewed.
[serval:BIB_9A423840514B]
Genetic analysis of cardiac SCN5A Gene in Iranian patients with hereditary cardiac arrhythmias.
Asadi M., Foo R., Bhuiyan Z.A., Samienasab M.R., Salehi A.R., Shahrzad S., Salehi R., 2016/03. Anatolian journal of cardiology, 16 (3) pp. 170-174. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_4D79D6A819CA]
Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa.
Rose A.M., Shah A.Z., Venturini G., Krishna A., Chakravarti A., Rivolta C., Bhattacharya S.S., 2016/01/19. Scientific reports, 6 p. 19450. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_5D1C3976F501]
A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice.
Sanchez-Alcudia R., Garcia-Hoyos M., Lopez-Martinez M.A., Sanchez-Bolivar N., Zurita O., Gimenez A., Villaverde C., Rodrigues-Jacy da Silva L., Corton M., Perez-Carro R. et al., 2016. Plos One, 11 (4) pp. e0151943. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_5597FAAEA693]
A Multi-Method Approach for Proteomic Network Inference in 11 Human Cancers.
Şenbabaoğlu Y., Sümer S.O., Sánchez-Vega F., Bemis D., Ciriello G., Schultz N., Sander C., 2016. Plos Computational Biology, 12 (2) pp. e1004765. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_143EFDA31CDA]
A novel LAMB2 gene mutation associated with a severe phenotype in a neonate with Pierson syndrome.
Zemrani B., Cachat F., Bonny O., Giannoni E., Durig J., Fellmann F., Chehade H., 2016. European Journal of Medical Research, 21 p. 19. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_87E1DCEC29A7]
 
A Zebrafish Loss-of-Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ Function.
Noël E.S., Momenah T.S., Al-Dagriri K., Al-Suwaid A., Al-Shahrani S., Jiang H., Willekers S., Oostveen Y.Y., Chocron S., Postma A.V. et al., 2016. Human Mutation, 37 (2) pp. 194-200. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_1A3FF6062D29]
Across-cohort QC analyses of GWAS summary statistics from complex traits.
Chen G.B., Lee S.H., Robinson M.R., Trzaskowski M., Zhu Z.X., Winkler T.W., Day F.R., Croteau-Chonka D.C., Wood A.R., Locke A.E. et al., 2016/01. European journal of human genetics, 25 (1) pp. 137-146. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_E56034AE514C]
 
Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease.
Bonafé L., Kariminejad A., Li J., Royer-Bertrand B., Garcia V., Mahdavi S., Bozorgmehr B., Lachman R.L., Mittaz-Crettol L., Campos-Xavier B. et al., 2016. Arthritis and Rheumatology (hoboken, N.j.), 68 (9) pp. 2323-2327. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_6E3000B54532]
 
Complete Maxillo-Mandibular Syngnathia in a Newborn with Multiple Congenital Malformations.
Broome M., Vial Y., Jacquemont S., Sergi C., Kamnasaran D., Giannoni E., 2016. Pediatrics and Neonatology, 57 (1) pp. 65-68.
[DOI][WoS][Pmid][serval:BIB_5F7B52BFFD3F]
 
Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease.
Simsek Kiper P.O., Saito H., Gori F., Unger S., Hesse E., Yamana K., Kiviranta R., Solban N., Liu J., Brommage R. et al., 2016. New England Journal of Medicine, 374 (26) pp. 2553-2562. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_8239D3D6D9DF]
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
D'Angelo D., Lebon S., Chen Q., Martin-Brevet S., Snyder L.G., Hippolyte L., Hanson E., Maillard A.M., Faucett W.A., Macé A. et al., 2016. Jama Psychiatry, 73 (1) pp. 20-30. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_FA7E8A43283E]
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.
Pattaro C., Teumer A., Gorski M., Chu A.Y., Li M., Mijatovic V., Garnaas M., Tin A., Sorice R., Li Y. et al., 2016. Nature Communications, 7 p. 10023. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_53B973F55248]
 
Genetic Evidence of a Population Bottleneck and Inbreeding in the Endangered New Zealand Sea Lion, Phocarctos hookeri.
Osborne A.J., Negro S.S., Chilvers B.L., Robertson B.C., Kennedy M.A., Gemmell N.J., 2016. The Journal of Heredity, 107 (5) pp. 392-402. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_CC192CD4882D]
 
Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes.
Teumer A., Tin A., Sorice R., Gorski M., Yeo N.C., Chu A.Y., Li M., Li Y., Mijatovic V., Ko Y.A. et al., 2016. Diabetes, 65 (3) pp. 803-817. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_F3223C4A8D96]
Genome-wide association study identifies 74 loci associated with educational attainment.
Okbay A., Beauchamp J.P., Fontana M.A., Lee J.J., Pers T.H., Rietveld C.A., Turley P., Chen G.B., Emilsson V., Meddens S.F. et al., 2016. Nature, 533 (7604) pp. 539-542. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_5E497C4331E0]
 
Guidelines for cytogenetic investigations in tumours.
Hastings R.J., Bown N., Tibiletti M.G., Debiec-Rychter M., Vanni R., Espinet B., van Roy N., Roberts P., van den Berg-de-Ruiter E., Bernheim A. et al., 2016/01. European journal of human genetics, 24 (1) pp. 6-13. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_238AFE37D7D9]
 
Guidelines for genomic array analysis in acquired haematological neoplastic disorders.
Schoumans J., Suela J., Hastings R., Muehlematter D., Rack K., van den Berg E., Berna Beverloo H., Stevens-Kroef M., 2016. Genes, Chromosomes and Cancer, 55 (5) pp. 480-491. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_16339C7307D0]
Identification and molecular characterisation of Lausanne Institutional Biobank participants with familial hypercholesterolaemia - a proof-of-concept study.
Maurer F., Pradervand S., Guilleret I., Nanchen D., Maghraoui A., Chapatte L., Bojkowska K., Bhuiyan Z.A., Jacquemont N., Harshman K. et al., 2016. Swiss medical weekly, 146 pp. w14326. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_3496C46C20B6]
 
IL-17 receptor A and adenosine deaminase 2 deficiency in siblings with recurrent infections and chronic inflammation.
Fellmann F., Angelini F., Wassenberg J., Perreau M., Arenas Ramirez N., Simon G., Boyman O., Demaria O., Christen-Zaech S., Hohl D. et al., 2016. Journal of Allergy and Clinical Immunology, 137 (4) pp. 1189-96.e1-2. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_D933D1DD0E0F]
 
Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.
El Chehadeh S., Faivre L., Mosca-Boidron A.L., Malan V., Amiel J., Nizon M., Touraine R., Prieur F., Pasquier L., Callier P. et al., 2016. American Journal of Medical Genetics. Part A, 170A (1) pp. 116-129. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_08C9E1B19BCA]
 
NANS-mediated synthesis of sialic acid is required for brain and skeletal development.
van Karnebeek C.D., Bonafé L., Wen X.Y., Tarailo-Graovac M., Balzano S., Royer-Bertrand B., Ashikov A., Garavelli L., Mammi I., Turolla L. et al., 2016. Nature Genetics, 48 (7) pp. 777-784. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_71E97DD0E8A8]
 
Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism.
Mattioli F., Piton A., Gérard B., Superti-Furga A., Mandel J.L., Unger S., 2016. American Journal of Medical Genetics. Part A, 170 (6) pp. 1626-1629. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_DEA790DCF6C4]
 
Prenatal Diagnosis of Skeletal Dysplasias and Connective Tissue Disorders
Superti-Furga A., Unger S., 2016. pp. 681-699 dans GENETIC DISORDERS AND THE FETUS: DIAGNOSIS, PREVENTION, AND TREATMENT, Wiley.
[WoS][serval:BIB_F14E199ECEC4]
Reciprocal changes in DNA methylation and hydroxymethylation and a broad repressive epigenetic switch characterize FMR1 transcriptional silencing in fragile X syndrome.
Brasa S., Mueller A., Jacquemont S., Hahne F., Rozenberg I., Peters T., He Y., McCormack C., Gasparini F., Chibout S.D. et al., 2016. Clinical Epigenetics, 8 p. 15. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_E81B3663906F]
Replication and Characterization of Association between ABO SNPs and Red Blood Cell Traits by Meta-Analysis in Europeans.
McLachlan S., Giambartolomei C., White J., Charoen P., Wong A., Finan C., Engmann J., Shah T., Hersch M., Podmore C. et al., 2016. PloS one, 11 (6) pp. e0156914. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_4A3C2460ABAA]
RNAseq analysis of heart tissue from mice treated with atenolol and isoproterenol reveals a reciprocal transcriptional response.
Prunotto A., Stevenson B.J., Berthonneche C., Schüpfer F., Beckmann J.S., Maurer F., Bergmann S., 2016. BMC Genomics, 17 p. 717. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_8B036F457643]
 
Use of hierarchical models to analyze European trends in congenital anomaly prevalence.
Cavadino A., Prieto-Merino D., Addor M.C., Arriola L., Bianchi F., Draper E., Garne E., Greenlees R., Haeusler M., Khoshnood B. et al., 2016. Birth Defects Research. Part A, Clinical and Molecular Teratology, 106 (6) pp. 480-488. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_C36E08D550F6]
2015
Across-cohort QC analyses of genome-wide association study summary statistics from complex traits
Guo-Bo Chen, Sang Hong Lee, Matthew R Robinson, Maciej Trzaskowski, Zhi-Xiang Zhu, Thomas W Winkler, Felix R Day, Damien C Croteau-Chonka, Andrew R Wood, Adam E Locke et al., 2015/12..
[URN][DOI][serval:BIB_D4D3EFAAEFFC]
 
Stuve-Wiedemann syndrome with a novel mutation.
Knipe M., Stanbury R., Unger S., Chakraborty M., 2015/08/30. BMJ case reports, 2015. Peer-reviewed.
[DOI][Pmid][serval:BIB_20BFCCAD6FA8]
The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity.
Maillard A.M., Ruef A., Pizzagalli F., Migliavacca E., Hippolyte L., Adaszewski S., Dukart J., Ferrari C., Conus P., Männik K. et al., 2015/02. Molecular psychiatry, 20 (1) pp. 140-147. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_02ADC1E92D32]
 
A large multiexonic genomic deletion within the ALMS1 gene causes Alström syndrome in a consanguineous Pakistani family.
Nikopoulos K., Butt G.U., Farinelli P., Mudassar M., Domènech-Estévez E., Samara C., Kausar M., Masroor I., Chrast R., Rivolta C. et al., 2015. Clinical Genetics, 89 (4) pp. 510-511. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_3BC6179470F4]
 
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.
Migliavacca E., Golzio C., Männik K., Blumenthal I., Oh E.C., Harewood L., Kosmicki J.A., Loviglio M.N., Giannuzzi G., Hippolyte L. et al., 2015. American Journal of Human Genetics, 96 (5) pp. 784-796.
[DOI][WoS][Pmid][serval:BIB_9689D2C97A3A]
A single epidermal stem cell strategy for safe ex vivo gene therapy.
Droz-Georget Lathion S., Rochat A., Knott G., Recchia A., Martinet D., Benmohammed S., Grasset N., Zaffalon A., Besuchet Schmutz N., Savioz-Dayer E. et al., 2015. Embo Molecular Medicine, 7 (4) pp. 380-393. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_A482C5A3A43D]
Acid-sensing ion channel 1a drives AMPA receptor plasticity following ischemia and acidosis in hippocampal CA1 neurons
Quintana P., Soto D., Poirot O., Zonouzi M., Kellenberger S., Muller D., Chrast R., Cull-Candy S.G., 2015. Journal of Physiology, 593 (19) pp. 4373-4386. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_404FF4460E4F]
Acute painful diabetic neuropathy: an uncommon, remittent type of acute distal small fibre neuropathy.
Tran C., Philippe J., Ochsner F., Kuntzer T., Truffert A., 2015. Swiss Medical Weekly, 145 pp. w14131. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_D7566BA100A9]
 
Calreticulin levels determine onset of early muscle denervation by fast motoneurons of ALS model mice.
Bernard-Marissal N., Sunyach C., Marissal T., Raoul C., Pettmann B., 2015. Neurobiology of Disease, 73 pp. 130-136. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_FC3AF9A33638]
 
Challenges in managing genetic cancer risk: a long-term qualitative study of unaffected women carrying BRCA1/BRCA2 mutations.
Caiata-Zufferey M., Pagani O., Cina V., Membrez V., Taborelli M., Unger S., Murphy A., Monnerat C., Chappuis P.O., 2015. Genetics In Medicine : Official Journal of the American College of Medical Genetics, 17 (9) pp. 726-732. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_0A2191D079D8]
Comparative genome analysis of Pseudomonas knackmussii B13, the first bacterium known to degrade chloroaromatic compounds.
Miyazaki R., Bertelli C., Benaglio P., Canton J., De Coi N., Gharib W.H., Gjoksi B., Goesmann A., Greub G., Harshman K. et al., 2015. Environmental Microbiology, 17 (1) pp. 91-104.
[URN][DOI][WoS][Pmid][serval:BIB_EBE76C19261B]
 
Complex syntax in autism spectrum disorders: a study of relative clauses.
Durrleman S., Hippolyte L., Zufferey S., Iglesias K., Hadjikhani N., 2015. International Journal of Language and Communication Disorders / Royal College of Speech and Language Therapists, 50 (2) pp. 260-267. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_BC90CE950953]
 
Congenital anomalies associated with trisomy 18 or trisomy 13: A registry-based study in 16 European countries, 2000-2011.
Springett A., Wellesley D., Greenlees R., Loane M., Addor M.C., Arriola L., Bergman J., Cavero-Carbonell C., Csaky-Szunyogh M., Draper E.S. et al., 2015. American Journal of Medical Genetics. Part A, 167A (12) pp. 3062-3069. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_3E598A79A666]
 
Decrease of perinatal mortality associated with congenital anomalies after prenatal screening was introduced in the Netherlands
Faber HH, Bouman K, Walle HEK, Haeusler M, Garne E, Rissmann A, O'Mahony M, Lynch C, McDonnell M, Rankin J et al., 2015. dans Prenatal Diagnosis / 19th International Conference on Prenatal Diagnosis, Washington July 2015, Issue Supplement P3-5.
[serval:BIB_828C7963897E]
Dysfunction in endoplasmic reticulum-mitochondria crosstalk underlies SIGMAR1 loss of function mediated motor neuron degeneration.
Bernard-Marissal N., Médard J.J., Azzedine H., Chrast R., 2015. Brain, 138 (Pt 4) pp. 875-890. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_615322DD04FE]
EasyStrata: evaluation and visualization of stratified genome-wide association meta-analysis data.
Winkler T.W., Kutalik Z., Gorski M., Lottaz C., Kronenberg F., Heid I.M., 2015. Bioinformatics (oxford, England), 31 (2) pp. 259-261. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_F4564B3C6DBD]
 
Edulcorants artificiels et diabète: faux amis [Artificial sweeteners and diabetes: friends or foes?].
Tran C., Jornayvaz F.R., 2015. Revue Médicale Suisse, 11 (477) pp. 1246-1249.
[Pmid][serval:BIB_4775DB8C3A50]
 
Epidemiology of congenital diaphragmatic hernia in Europe: a register-based study.
McGivern M.R., Best K.E., Rankin J., Wellesley D., Greenlees R., Addor M.C., Arriola L., de Walle H., Barisic I., Beres J. et al., 2015. Archives of Disease in Childhood. Fetal and Neonatal Edition, 100 (2) pp. F137-F144. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_CA281BB19188]
Epidemiology of hypospadias in Europe: a registry-based study.
Bergman J.E., Loane M., Vrijheid M., Pierini A., Nijman R.J., Addor M.C., Barisic I., Béres J., Braz P., Budd J. et al., 2015. World Journal of Urology, 33 (12) pp. 2159-2167. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_D2139E13E20F]
 
Erreurs innées du métabolisme: transition enfant-adulte [Inborn errors of metabolism: transition from childhood to adulthood].
Tran C., Barbey F., Pitteloud N., Philippe J., Kern I., Bonafé L., 2015. Revue Médicale Suisse, 11 (462) pp. 445-449. Peer-reviewed.
[Pmid][serval:BIB_2696D41B0A3C]
 
Extreme variability in clinical penetrance for a splice-site Plakophilin-2 mutation in a Bangladeshi family.
Sayeed M.Z., Salam M.A., Islam A.K., Bhuiyan Z.A., 2015. Clinical Genetics, 88 (5) pp. 502-504. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_6B38F4FA68F3]
Further delineation of the KAT6B molecular and phenotypic spectrum.
Gannon T., Perveen R., Schlecht H., Ramsden S., Anderson B., Kerr B., Day R., Banka S., Suri M., Berland S. et al., 2015. European Journal of Human Genetics : Ejhg, 23 (9) pp. 1165-1170. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_52ADD198F52A]
Genome-Wide Association Study with Targeted and Non-targeted NMR Metabolomics Identifies 15 Novel Loci of Urinary Human Metabolic Individuality
Raffler J., Friedrich N., Arnold M., Kacprowski T., Rueedi R., Altmaier E., Bergmann S., Budde K., Gieger C., Homuth G. et al., 2015. Plos Genetics, 11 (9) pp. e1005487. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_DDB2BC95B9A0]
 
Genotype-phenotype analysis of Jervell and Lange-Nielsen syndrome in six families from Saudi Arabia.
Al-Aama J.Y., Al-Ghamdi S., Bdier A.Y., AlQarawi A., Jiman O.A., Al-Aama N., Al-Aata J., Wilde A.A., Bhuiyan Z.A., 2015. Clinical Genetics, 87 (1) pp. 74-79. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_C6B12351CD0F]
 
Impact of unbalanced minor route versus major route karyotypes at diagnosis on prognosis of CML.
Fabarius A., Kalmanti L., Dietz C.T., Lauseker M., Rinaldetti S., Haferlach C., Göhring G., Schlegelberger B., Jotterand M., Hanfstein B. et al., 2015. Annals of Hematology, 94 (12) pp. 2015-2024. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_AADD75F02E28]
 
LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseases.
Klinke G., Rohrbach M., Giugliani R., Burda P., Baumgartner M.R., Tran C., Gautschi M., Mathis D., Hersberger M., 2015. Clinical Biochemistry, 48 (9) pp. 596-602. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_C6C978AFCBAD]
 
Long term trends in prevalence of neural tube defects in Europe: population based study.
Khoshnood B., Loane M., Walle H.d., Arriola L., Addor M.C., Barisic I., Beres J., Bianchi F., Dias C., Draper E. et al., 2015. BMJ-Britsh Medical Journal, 351 pp. h5949. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_9CDECFA83942]
 
Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe.
Barisic I., Boban L., Loane M., Garne E., Wellesley D., Calzolari E., Dolk H., Addor M.C., Bergman J.E., Braz P. et al., 2015. European Journal of Human Genetics, 23 (6) pp. 746-752. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_45DBCF1269EA]
 
Methadone maintenance treatment in first trimester of pregnancy and risk of Pierre Robin sequence : A case-malformed control study
Cleary BJ, Loane MA, Addor MC, Barisic I, de Walle H, Dias CM, Gatt M, Klungsoyr K, McDonnell B, Neville A et al., 2015. dans European Network of Teratology Information Service Conference, Prague, September 2015.
[serval:BIB_9FC024D581CF]
 
Microstructure of the superior longitudinal fasciculus predicts stimulation-induced interference with on-line motor control.
Rodríguez-Herreros B., Amengual J.L., Gurtubay-Antolín A., Richter L., Jauer P., Erdmann C., Schweikard A., López-Moliner J., Rodríguez-Fornells A., Münte T.F., 2015. Neuroimage, 120 pp. 254-265. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_705981B68FB5]
 
Molecular insight into heart development and congenital heart disease: An update review from the Arab countries.
Aburawi E.H., Aburawi H.E., Bagnall K.M., Bhuiyan Z.A., 2015. Trends In Cardiovascular Medicine, 25 (4) pp. 291-301. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_30A7A78754B2]
 
Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome.
Dikoglu E., Alfaiz A., Gorna M., Bertola D., Chae J.H., Cho T.J., Derbent M., Alanay Y., Guran T., Kim O.H. et al., 2015. American Journal of Medical Genetics. Part A, 167 (7) pp. 1501-1509. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_5FC5887518A1]
 
Mutations in NDUFB11, Encoding a Complex I Component of the Mitochondrial Respiratory Chain, Cause Microphthalmia with Linear Skin Defects Syndrome.
van Rahden V.A., Fernandez-Vizarra E., Alawi M., Brand K., Fellmann F., Horn D., Zeviani M., Kutsche K., 2015. American Journal of Human Genetics, 96 (4) pp. 640-650. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_82849789C08C]
Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia.
Royer-Bertrand B., Castillo-Taucher S., Moreno-Salinas R., Cho T.J., Chae J.H., Choi M., Kim O.H., Dikoglu E., Campos-Xavier B., Girardi E. et al., 2015. Scientific Reports, 5 p. 17154. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_825739ACCA7E]
 
NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.
Segarra N.G., Ballhausen D., Crawford H., Perreau M., Campos-Xavier B., van Spaendonck-Zwarts K., Vermeer C., Russo M., Zambelli P.Y., Stevenson B. et al., 2015. American Journal of Medical Genetics. Part A, 167A (12) pp. 2902-2912. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_D06FCFC24F20]
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.
Dondorp W., de Wert G., Bombard Y., Bianchi D.W., Bergmann C., Borry P., Chitty L.S., Fellmann F., Forzano F., Hall A. et al., 2015. European Journal of Human Genetics : Ejhg, 23 (11) pp. 1438-1450. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_1EB697D3CB96]
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations
Dondorp W., de Wert G., Bombard Y., Bianchi D.W., Bergmann C., Borry P., Chitty L.S., Fellmann F., Forzano F., Hall A. et al., 2015. European Journal of Human Genetics : Ejhg pp. 1-3. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_8803702CE323]
 
Nosology and classification of genetic skeletal disorders: 2015 revision.
Bonafe L., Cormier-Daire V., Hall C., Lachman R., Mortier G., Mundlos S., Nishimura G., Sangiorgi L., Savarirayan R., Sillence D. et al., 2015. American Journal of Medical Genetics. Part A, 167A (12) pp. 2869-2892. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_5222C1260593]
 
p.L1612P, a novel voltage-gated sodium channel Nav1.7 mutation inducing a cold sensitive paroxysmal extreme pain disorder.
Suter M.R., Bhuiyan Z.A., Laedermann C.J., Kuntzer T., Schaller M., Stauffacher M.W., Roulet E., Abriel H., Decosterd I., Wider C., 2015. Anesthesiology, 122 (2) pp. 414-423. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_3302716943FA]
Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness.
Severin F., Borry P., Cornel M.C., Daniels N., Fellmann F., Victoria Hodgson S., Howard H.C., John J., Kääriäinen H., Kayserili H. et al., 2015. European Journal of Human Genetics : Ejhg, 23 (6) pp. 729-735. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_CDE05C077A15]
 
Selective serotonin reuptake inhibitor antidepressant use in first trimester pregnancy and risk of specific congenital anomalies: a European register-based study.
Wemakor A., Casson K., Garne E., Bakker M., Addor M.C., Arriola L., Gatt M., Khoshnood B., Klungsoyr K., Nelen V. et al., 2015. European Journal of Epidemiology, 30 (11) pp. 1187-1198.
[DOI][WoS][Pmid][serval:BIB_459F4CA67A22]
 
Selective serotonin reuptake inhibitor use in first trimester of pregnancy and risk of congenital anomalies: A EUROmediCAT case-malformed control study in 12 countries
Boyle B, Loane M, Bakker M, Addor MC, Arriola L, Garne E, Gatt M, Jordan S, Khoshnood B, Klungsoyr K et al., 2015. dans International Conference on Pharmacoepidemiology & Therapeutic Risk Management, Boston 2015.
[serval:BIB_D7A8BA0B873D]
Sex differences in brain plasticity: a new hypothesis for sex ratio bias in autism.
Mottron L., Duret P., Mueller S., Moore R.D., Forgeot d'Arc B., Jacquemont S., Xiong L., 2015. Molecular Autism, 6 p. 33. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_41C4497868A8]
Sudden cardiac death among general population and sport related population in forensic experience.
Chappex N., Schlaepfer J., Fellmann F., Bhuiyan Z.A., Wilhelm M., Michaud K., 2015. Journal of Forensic and Legal Medicine, 35 pp. 62-68. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_9645DEF7D105]
Sudden cardiac death in forensic medicine - Swiss recommendations for a multidisciplinary approach.
Wilhelm M., Bolliger S.A., Bartsch C., Fokstuen S., Gräni C., Martos V., Medeiros Domingo A., Osculati A., Rieubland C., Sabatasso S. et al., 2015. Swiss Medical Weekly, 145 pp. w14129. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_A473048EE872]
t(15;21) translocations leading to the concurrent downregulation of RUNX1 and its transcription factor partner genes SIN3A and TCF12 in myeloid disorders.
L'Abbate A., Tolomeo D., De Astis F., Lonoce A., Cunsolo C.L., Mühlematter D., Schoumans J., Vandenberghe P., Van Hoof A., Palumbo O. et al., 2015. Molecular Cancer, 14 (1) p. 211. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_FF9F70D33221]
 
The Association of H1N1 Pandemic Influenza with Congenital Anomaly Prevalence in Europe: An Ecological Time Series Study.
Luteijn J.M., Addor M.C., Arriola L., Bianchi F., Garne E., Khoshnood B., Nelen V., Neville A., Queisser-Luft A., Rankin J. et al., 2015. Epidemiology (cambridge, Mass.), 26 (6) pp. 853-861. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_890DDA1C4792]
 
The epidemiology of Ebstein's anomaly in Europe: a registry-based study with special emphasis on medication exposure
Boyle B, Garne E, Loane M, Addor MC, Arriola L, Cavero-Carbonell C, de Walle HEK, Gatt M, Lelong N, Lynch C et al., 2015. dans International Conference on Pharmacoepidemiology & Therapeutic Risk Management, Boston 2015.
[serval:BIB_C952228A80FF]
 
The neural correlates of motion-induced shifts in reaching.
Rodríguez-Herreros B., Rodríguez-Fornells A., López-Moliner J., 2015. Psychophysiology, 52 (12) pp. 1577-1589. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_87E3C0764398]
 
Use of asthma medication during pregnancy and risk of specific congenital anomalies: A European case-malformed control study.
Garne E., Hansen A.V., Morris J., Zaupper L., Addor M.C., Barisic I., Gatt M., Lelong N., Klungsøyr K., O'Mahony M. et al., 2015. Journal of Allergy and Clinical Immunology, 136 (6) pp. 1496-502.e1-7. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_A32A433798B8]
2014
Sudden cardiac death in the young (5-39 years) in the canton of Vaud, Switzerland.
Hofer F., Fellmann F., Schläpfer J., Michaud K., 2014/10/07. BMC cardiovascular disorders, 14 p. 140. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_1644EA3FC6CA]
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
Perry J.R., Day F., Elks C.E., Sulem P., Thompson D.J., Ferreira T., He C., Chasman D.I., Esko T., Thorleifsson G. et al., 2014/10/02. Nature, 514 (7520) pp. 92-97. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_7816C9E4E3E5]
 
Analyses génétiques : comment réagir en cas de résultats inattendus ?
Fellmann F., Castella V., 2014/06., Présentation orale pour un colloque du Centre Universitaire Romand de Médecine Légale (CURML), Lausanne, 18 juin 2014.
[URN][serval:BIB_F435CAA80911]
 
L'autopsie “moléculaire”: investigation forensique du génome
Fellmann F., Michaud K., 2014/04/14. Le Fait médical, 85.
[serval:BIB_42519FEBEC4D]
 
Analyses génétiques : questions autour de résultats inattendus
Fellmann F., Gehrig C., 2014/02., Présentation orale pour un colloque du Centre Universitaire Romand de Médecine Légale (CURML), Lausanne, 5 février 2014.
[URN][serval:BIB_E9C41758EEF5]
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.
Reinthaler E.M., Lal D., Lebon S., Hildebrand M.S., Dahl H.H., Regan B.M., Feucht M., Steinböck H., Neophytou B., Ronen G.M. et al., 2014. Human Molecular Genetics, 23 (22) pp. 6069-6080. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_30D0F629E19F]
 
A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders.
Jacquemont S., Coe B.P., Hersch M., Duyzend M.H., Krumm N., Bergmann S., Beckmann J.S., Rosenfeld J.A., Eichler E.E., 2014. American Journal of Human Genetics, 94 (3) pp. 415-425. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_0ECCA4248136]
 
A Mutation in CALM1 Encoding Calmodulin in Familial Idiopathic Ventricular Fibrillation in Childhood and Adolescence.
Marsman R.F., Barc J., Beekman L., Alders M., Dooijes D., van den Wijngaard A., Ratbi I., Sefiani A., Bhuiyan Z.A., Wilde A.A. et al., 2014. Journal of the American College of Cardiology, 63 (3) pp. 259-266.
[DOI][WoS][Pmid][serval:BIB_BD99F0200585]
 
Acampomelic Form of Campomelic Dysplasia with SOX9 Missense Mutation.
Gopakumar H., Superti-Furga A., Unger S., Scherer G., Rajiv P.K., Nampoothiri S., 2014. Indian Journal of Pediatrics, 81 (1) pp. 98-100.
[DOI][WoS][Pmid][serval:BIB_D60C135BCF00]
C19orf12 mutation leads to a pallido-pyramidal syndrome.
Kruer M.C., Salih M.A., Mooney C., Alzahrani J., Elmalik S.A., Kabiraj M.M., Khan A.O., Paudel R., Houlden H., Azzedine H. et al., 2014. Gene, 537 (2) pp. 352-356. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_BF6794703E84]
 
Chromosomal microarray among children with intellectual disability: a useful diagnostic tool for the clinical geneticist.
Capobianco S., Lava S.A., Bianchetti M.G., Martinet D., Belfiore M., Ramelli G.P., Ferrarini A., 2014. Developmental Medicine and Child Neurology, 56 (3) p. 290.
[DOI][WoS][Pmid][serval:BIB_68302281E83E]
 
Cono-spondylar dysplasia: Clinical, radiographic, and molecular findings of a previously unreported disorder.
Ben-Omran T., Lakhani S., Almureikhi M., Ali R., Takahashi A., Miyake N., Matsumoto N., Ikegawa S., Superti-Furga A., Unger S., 2014. American Journal of Medical Genetics. Part A, 164 (9) pp. 2147-2152. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_C1FABD4106F9]
 
De novo mutation in the KCNQ1 gene causal to Jervell and Lange-Nielsen syndrome.
Al-Aama J.Y., Al-Ghamdi S., Bdier A.Y., Wilde A.A., Bhuiyan Z.A., 2014. Clinical Genetics, 86 (5) pp. 492-495.
[DOI][WoS][Pmid][serval:BIB_12C3E1B114D8]
 
Detecting dic(9;20)(p13.2;p11.2)-positive B-cell precursor acute lymphoblastic leukemia in a clinical setting using fluorescence in situ hybridization.
Zachariadis V., Schoumans J., Ofverholm I., Barbany G., Halvardsson E., Forestier E., Johansson B., Nordenskjöld M., Nordgren A., 2014/01. Leukemia, 28 (1) pp. 196-198. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_E08DBD6C9C67]
 
Development of mavoglurant and its potential for the treatment of fragile X syndrome.
Gomez-Mancilla B., Berry-Kravis E., Hagerman R., von Raison F., Apostol G., Ufer M., Gasparini F., Jacquemont S., 2014. Expert Opinion On Investigational Drugs, 23 (1) pp. 125-134.
[DOI][WoS][Pmid][serval:BIB_0AF8F3744D70]
 
Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: A model for the diagnosis and treatment of rare diseases in a developing country.
Nampoothiri S., Yesodharan D., Sainulabdin G., Narayanan D., Padmanabhan L., Girisha K.M., Cathey S.S., De Paepe A., Malfait F., Syx D. et al., 2014. American Journal of Medical Genetics. Part A, 164 (9) pp. 2317-2323. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_A2661FFCF837]
 
Epidemiology of multiple congenital anomalies in Europe: a EUROCAT population-based registry study.
Calzolari E., Barisic I., Loane M., Morris J., Wellesley D., Dolk H., Addor M.C., Arriola L., Bianchi F., Neville A.J. et al., 2014. Birth Defects Research. Part A, Clinical and Molecular Teratology, 100 (4) pp. 270-276. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_02CFC47B8C41]
Evaluation of prenatal diagnosis of congenital heart disease in a regional controlled case study.
Rossier M.C., Mivelaz Y., Addor M.C., Sekarski N., Meijboom E.J., Vial Y., 2014. Swiss Medical Weekly, 144 pp. w14068. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_C9A6C6989696]
 
Gene-Age Interactions in Blood Pressure Regulation: A Large-Scale Investigation with the CHARGE, Global BPgen, and ICBP Consortia.
Simino J., Shi G., Bis J.C., Chasman D.I., Ehret G.B., Gu X., Guo X., Hwang S.J., Sijbrands E., Smith A.V. et al., 2014. American Journal of Human Genetics, 95 (1) pp. 24-38. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_86236798F95A]
 
GNAL deletion as a probable cause of dystonia in a patient with the 18p- syndrome.
Esposito F., Addor M.C., Humm A.M., Vingerhoets F., Wider C., 2014. Parkinsonism and Related Disorders, 20 (3) pp. 351-352.
[DOI][WoS][Pmid][serval:BIB_801EF462463F]
GWAS of human bitter taste perception identifies new loci and reveals additional complexity of bitter taste genetics.
Ledda M., Kutalik Z., Souza Destito M.C., Souza M.M., Cirillo C.A., Zamboni A., Martin N., Morya E., Sameshima K., Beckmann J.S. et al., 2014. Human Molecular Genetics, 23 (1) pp. 259-267.
[URN][DOI][WoS][Pmid][serval:BIB_180FDCC647D0]
 
Hirschsprung's disease prevalence in Europe: A register based study.
Best K.E., Addor M.C., Arriola L., Balku E., Barisic I., Bianchi F., Calzolari E., Curran R., Doray B., Draper E. et al., 2014. Birth Defects Research. Part A, Clinical and Molecular Teratology, 100 (9) pp. 695-702. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_D10115E7488E]
Holt Oram syndrome: a registry-based study in Europe.
Barisic I., Boban L., Greenlees R., Garne E., Wellesley D., Calzolari E., Addor M.C., Arriola L., Bergman J.E., Braz P. et al., 2014. Orphanet Journal of Rare Diseases, 9 (1) p. 156. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_A6874F71D09B]
 
Investigation of memory, executive functions, and anatomic correlates in asymptomatic FMR1 premutation carriers.
Hippolyte L., Battistella G., Perrin A.G., Fornari E., Cornish K.M., Beckmann J.S., Niederhauser J., Vingerhoets F.J., Draganski B., Maeder P. et al., 2014. Neurobiology of Aging, 35 (8) pp. 1939-1946.
[DOI][WoS][Pmid][serval:BIB_4410A99BD4BD]
JNK3 Is Required for the Cytoprotective Effect of Exendin 4.
Ezanno H., Pawlowski V., Abdelli S., Boutry R., Gmyr V., Kerr-Conte J., Bonny C., Pattou F., Abderrahmani A., 2014. Journal of Diabetes Research, 2014 p. 814854. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_2BA4EFC99753]
 
Major congenital anomalies in babies born with Down syndrome: a EUROCAT population-based registry study.
Morris J.K., Garne E., Wellesley D., Addor M.C., Arriola L., Barisic I., Beres J., Bianchi F., Budd J., Dias C.M. et al., 2014. American Journal of Medical Genetics. Part A, 164A (12) pp. 2979-2986. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_8717A5CE40C1]
 
Metabolism of Nutritive Sweeteners in Humans
Tappy L., Egli L., Tran C., 2014. pp. 35-60 dans Fructose, High Fructose Corn Syrup, Sucrose and Health. Nutrition and Health, Humana Press.
[DOI][serval:BIB_A2FBE8F1D534]
 
MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type.
Bonafé L., Liang J., Gorna M.W., Zhang Q., Ha-Vinh R., Campos-Xavier A.B., Unger S., Beckmann J.S., Le Béchec A., Stevenson B. et al., 2014. American Journal of Medical Genetics. Part A, 164 (5) pp. 1175-1179. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_AA520EFE4A1E]
 
Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study.
Marle N., Martinet D., Aboura A., Joly-Helas G., Andrieux J., Flori E., Puechberty J., Vialard F., Sanlaville D., Fert Ferrer S. et al., 2014. Clinical Genetics, 85 (3) pp. 233-244. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_4185500E191A]
 
Mutations in the human UBR1 gene and the associated phenotypic spectrum.
Sukalo M., Fiedler A., Guzmán C., Spranger S., Addor M.C., McHeik J.N., Oltra Benavent M., Cobben J.M., Gillis L.A., Shealy A.G. et al., 2014. Human Mutation, 35 (5) pp. 521-531. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_D3A973C064B5]
Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly.
Fallet-Bianco C., Laquerrière A., Poirier K., Razavi F., Guimiot F., Dias P., Addor M.C., Loeuillet L., Lascelles K., Beldjord C. et al., 2014. Acta Neuropathologica Communications, 2 p. 69. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_E0BDFE630A77]
 
Not all pathogenic mutations are pathogenic: KCNH2 mutations in two sisters with tetralogy of Fallot.
Bhuiyan Z.A., Alswaid A., Belfiore M., Al-Ghamdi S.S., Liang J., Schlaepffer J., 2014. International Journal of Cardiology, 172 (1) pp. 276-277.
[DOI][WoS][Pmid][serval:BIB_2B45E57668C1]
Novel calmodulin mutations associated with congenital arrhythmia susceptibility.
Makita N., Yagihara N., Crotti L., Johnson C.N., Beckmann B.M., Roh M.S., Shigemizu D., Lichtner P., Ishikawa T., Aiba T. et al., 2014. Circulation. Cardiovascular Genetics, 7 (4) pp. 466-474. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_9EDE87D756E5]
 
Ophthalmic features of PLA2G6-related paediatric neurodegeneration with brain iron accumulation.
Khan A.O., Aldrees A., Elmalik S.A., Hassan H.H., Koenig M., Stevanin G., Azzedine H., Salih M.A., 2014. British Journal of Ophthalmology, 98 (7) pp. 889-93. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_EBBC5E9344DF]
 
Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: a single case observation.
Simsek-Kiper P.O., Dikoglu E., Campos-Xavier B., Utine G.E., Bonafe L., Unger S., Boduroglu K., Superti-Furga A., 2014. American Journal of Medical Genetics. Part A, 164A (10) pp. 2667-2671. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_96A0E52924C1]
 
Prenatal diagnosis and epidemiology of multicystic kidney dysplasia in Europe.
Winding L., Loane M., Wellesley D., Addor M.C., Arriola L., Bakker M.K., Bianchi F., Calzolari E., Gatt M., Haeusler M. et al., 2014. Prenatal Diagnosis, 34 (11) pp. 1093-1098. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_48937C300864]
Prevalence and risk of Down syndrome in monozygotic and dizygotic multiple pregnancies in Europe: implications for prenatal screening.
Boyle B., Morris J.K., McConkey R., Garne E., Loane M., Addor M.C., Gatt M., Haeusler M., Latos-Bielenska A., Lelong N. et al., 2014. Bjog, 121 (7) pp. 809-19; discussion 820. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_C9AED4088FCA]
 
Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe.
Barisic I., Odak L., Loane M., Garne E., Wellesley D., Calzolari E., Dolk H., Addor M.C., Arriola L., Bergman J. et al., 2014. European Journal of Human Genetics, 22 (8) pp. 1026-1033. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_EEE76DD4ED5D]
Quality control and conduct of genome-wide association meta-analyses.
Winkler T.W., Day F.R., Croteau-Chonka D.C., Wood A.R., Locke A.E., Mägi R., Ferreira T., Fall T., Graff M., Justice A.E. et al., 2014. Nature Protocols, 9 (5) pp. 1192-1212. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_05D9949A5AAE]
Regulation of the JNK3 signaling pathway during islet isolation: JNK3 and c-fos as new markers of islet quality for transplantation.
Abdelli S., Papas K.K., Mueller K.R., Murtaugh M.P., Hering B.J., Bonny C., 2014. Plos One, 9 (7) pp. e99796. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_CB517678C4DE]
Screening primary-care patients forgoing health care for economic reasons
Bodenmann P., Favrat B., Wolff H., Guessous I., Panese F., Herzig L., Bischoff T., Casillas A., Golano T., Vaucher P., 2014. Plos One, 9 (4) pp. e94006. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_01217329AADE]
 
Seasonality of congenital anomalies in Europe.
Luteijn J.M., Dolk H., Addor M.C., Arriola L., Barisic I., Bianchi F., Calzolari E., Draper E., Garne E., Gatt M. et al., 2014. Birth Defects Research. Part A, Clinical and Molecular Teratology, 100 (4) pp. 260-269.
[DOI][WoS][Pmid][serval:BIB_DE696633AEC8]
 
Sudden Cardiac Death: Integrating New Technologies Into Forensic Practice
Michaud K., Grabherr S., Fellmann F., Mangin P., 2014. dans 66th Annual Scientific Meeting American Academy of Forensic Sciences.
[serval:BIB_7F59FCA27C97]
 
Translating molecular advances in fragile X syndrome into therapy: a review.
Hagerman R.J., Des-Portes V., Gasparini F., Jacquemont S., Gomez-Mancilla B., 2014. Journal of Clinical Psychiatry, 75 (4) pp. e294-e307. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_DAD145FB477A]
2013
 
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
Makrythanasis P., van Bon B.W., Steehouwer M., Rodríguez-Santiago B., Simpson M., Dias P., Anderlid B.M., Arts P., Bhat M., Augello B. et al., 2013/12. Clinical genetics, 84 (6) pp. 539-545. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_F7CFC1017987]
 
Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.
Below J.E., Earl D.L., Shively K.M., McMillin M.J., Smith J.D., Turner E.H., Stephan M.J., Al-Gazali L.I., Hertecant J.L., Chitayat D. et al., 2013/12. American Journal of Human Genetics, 92 (1) pp. 137-143. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_DAC223FFD7BD]
A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination.
Enervald E., Du L., Visnes T., Björkman A., Lindgren E., Wincent J., Borck G., Colleaux L., Cormier-Daire V., van Gent D.C. et al., 2013/11/18. The Journal of experimental medicine, 210 (12) pp. 2503-2513. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_D9ED1016C1ED]
Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.
Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D. et al., 2013/06. Human mutation, 34 (6) pp. 801-811. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_FA8E13315D59]
Two new families with hereditary minimal change disease.
Chehade H., Cachat F., Girardin E., Rotman S., Correia A.J., Fellmann F., Bonny O., 2013/03/22. BMC nephrology, 14 p. 65. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_DF1B2E1F0453]
A Heterozygous Deletion Mutation in the Cardiac Sodium Channel Gene SCN5A with Loss- and Gain-of-Function Characteristics Manifests as Isolated Conduction Disease, without Signs of Brugada or Long QT Syndrome.
Zumhagen S., Veldkamp M.W., Stallmeyer B., Baartscheer A., Eckardt L., Paul M., Remme C.A., Bhuiyan Z.A., Bezzina C.R., Schulze-Bahr E., 2013. Plos One, 8 (6) pp. e67963.
[URN][DOI][WoS][Pmid][serval:BIB_9F7459C01C67]
 
A new approach for cerebello-thalamic motor network evaluation in asymptomatic premutation carriers at risk for FXTAS
Battistella G., Ghazaleh N., Fornari E., Najdenovska E., Bach Cuadra M., Jacquemont S., Maeder P., 2013. dans OHBM 2013, Annual Meeting of the Organisation for Human Brain Mapping. Peer-reviewed.
[serval:BIB_D3D545271096]
 
Anorectal malformations and pregnancy-related disorders: a registry-based case-control study in 17 European regions.
Wijers C.H., van Rooij I.A., Bakker M.K., Marcelis C.L., Addor M.C., Barisic I., Béres J., Bianca S., Bianchi F., Calzolari E. et al., 2013. Bjog, 120 (9) pp. 1066-1074. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_8ADAE44B1878]
 
Brain structure in asymptomatic FMR1 premutation carriers at risk for fragile X-associated tremor/ataxia syndrome.
Battistella G., Niederhauser J., Fornari E., Hippolyte L., Gronchi Perrin A., Lesca G., Forzano F., Hagmann P., Vingerhoets F.J., Draganski B. et al., 2013. Neurobiology of Aging, 34 (6) pp. 1700-1707. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_152378772070]
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