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Items: 1 to 20 of 4709

1.

A study of Kibbutzim in Israel reveals risk factors for cardiometabolic traits and subtle population structure.

Granot-Hershkovitz E, Karasik D, Friedlander Y, Rodriguez-Murillo L, Dorajoo R, Liu J, Sewda A, Peter I, Carmi S, Hochner H.

Eur J Hum Genet. 2018 Aug 14. doi: 10.1038/s41431-018-0230-3. [Epub ahead of print]

PMID:
30108283
2.

Linear isoforms of the long noncoding RNA CDKN2B-AS1 regulate the c-myc-enhancer binding factor RBMS1.

Hubberten M, Bochenek G, Chen H, Häsler R, Wiehe R, Rosenstiel P, Jepsen S, Dommisch H, Schaefer AS.

Eur J Hum Genet. 2018 Aug 14. doi: 10.1038/s41431-018-0210-7. [Epub ahead of print]

PMID:
30108282
3.

On the loss of human sex chromosomes in lymphocytes with age: a quantitative treatment.

Veitia RA.

Eur J Hum Genet. 2018 Aug 10. doi: 10.1038/s41431-018-0225-0. [Epub ahead of print]

PMID:
30097617
4.

Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants.

Boczek NJ, Hopp K, Benoit L, Kraft D, Cousin MA, Blackburn PR, Madsen CD, Oliver GR, Nair AA, Na J, Bianchi DW, Beek G, Harris PC, Pichurin P, Klee EW.

Eur J Hum Genet. 2018 Aug 10. doi: 10.1038/s41431-018-0222-3. [Epub ahead of print]

PMID:
30097616
5.

Application of the parametric bootstrap for gene-set analysis of gene-environment interactions.

Coombes BJ, Biernacka JM.

Eur J Hum Genet. 2018 Aug 8. doi: 10.1038/s41431-018-0236-x. [Epub ahead of print]

PMID:
30089830
6.

CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63.

Marsh APL, Novarino G, Lockhart PJ, Leventer RJ.

Eur J Hum Genet. 2018 Aug 8. doi: 10.1038/s41431-018-0231-2. [Epub ahead of print]

PMID:
30089829
7.

Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis.

van Dijk T, Ferdinandusse S, Ruiter JPN, Alders M, Mathijssen IB, Parboosingh JS, Innes AM, Meijers-Heijboer H, Poll-The BT, Bernier FP, Wanders RJA, Lamont RE, Baas F.

Eur J Hum Genet. 2018 Aug 8. doi: 10.1038/s41431-018-0233-0. [Epub ahead of print]

PMID:
30089828
8.

Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis.

Farrell P, Férec C, Macek M, Frischer T, Renner S, Riss K, Barton D, Repetto T, Tzetis M, Giteau K, Duno M, Rogers M, Levy H, Sahbatou M, Fichou Y, Le Maréchal C, Génin E.

Eur J Hum Genet. 2018 Aug 8. doi: 10.1038/s41431-018-0234-z. [Epub ahead of print]

PMID:
30089827
9.

Sequence diversity of the Rh blood group system in Basques.

Flores-Bello A, Mas-Ponte D, Rosu ME, Bosch E, Calafell F, Comas D.

Eur J Hum Genet. 2018 Aug 8. doi: 10.1038/s41431-018-0232-1. [Epub ahead of print]

PMID:
30089826
10.

Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations.

Pujol P, Perre PV, Faivre L, Sanlaville D, Corsini C, Baertschi B, Anahory M, Vaur D, Olschwang S, Soufir N, Bastide N, Amar S, Vintraud M, Ingster O, Richard S, Le Coz P, Spano JP, Caron O, Hammel P, Luporsi E, Toledano A, Rebillard X, Cambon-Thomsen A, Putois O, Rey JM, Hervé C, Zorn C, Baudry K, Galibert V, Gligorov J, Azria D, Paillerets BB, Burnichon N, Spielmann M, Zarca D, Coupier I, Cussenot O, Gimenez-Roqueplo AP, Giraud S, Lapointe AS, Niccoli P, Raingeard I, Le Bidan M, Frebourg T, Rafii A, Geneviève D.

Eur J Hum Genet. 2018 Aug 8. doi: 10.1038/s41431-018-0224-1. [Epub ahead of print]

PMID:
30089825
11.

Current practices for access, compensation, and prioritization in biobanks. Results from an interview study.

Langhof H, Kahrass H, Illig T, Jahns R, Strech D.

Eur J Hum Genet. 2018 Aug 8. doi: 10.1038/s41431-018-0228-x. [Epub ahead of print]

PMID:
30089824
12.

Functional characterization of common BCL11B gene desert variants suggests a lymphocyte-mediated association of BCL11B with aortic stiffness.

Maskari RA, Hardege I, Cleary S, Figg N, Li Y, Siew K, Khir A, Yu Y, Liu P, Wilkinson I, O'Shaughnessy K, Yasmin.

Eur J Hum Genet. 2018 Aug 8. doi: 10.1038/s41431-018-0226-z. [Epub ahead of print]

PMID:
30089823
13.

Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene card.

Yu-Wai-Man C, Arno G, Brookes J, Garcia-Feijoo J, Khaw PT, Moosajee M.

Eur J Hum Genet. 2018 Aug 8. doi: 10.1038/s41431-018-0227-y. [Epub ahead of print]

PMID:
30089822
14.

Genetic variation in CHRNA7 and CHRFAM7A is associated with nicotine dependence and response to varenicline treatment.

Cameli C, Bacchelli E, De Paola M, Giucastro G, Cifiello S, Collo G, Cainazzo MM, Pini LA, Maestrini E, Zoli M.

Eur J Hum Genet. 2018 Aug 8. doi: 10.1038/s41431-018-0223-2. [Epub ahead of print]

PMID:
30089821
15.

A patient-specific induced pluripotent stem cell model for West syndrome caused by ST3GAL3 deficiency.

van Diepen L, Buettner FFR, Hoffmann D, Thiesler CT, Halbach OVBU, Halbach VVBU, Jensen LR, Steinemann D, Edvardson S, Elpeleg O, Schambach A, Gerardy-Schahn R, Kuss AW.

Eur J Hum Genet. 2018 Aug 8. doi: 10.1038/s41431-018-0220-5. [Epub ahead of print]

PMID:
30089820
16.

An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease.

Chen HI, Jagadeesh KA, Birgmeier J, Wenger AM, Guturu H, Schelley S, Bernstein JA, Bejerano G.

Eur J Hum Genet. 2018 Aug 7. doi: 10.1038/s41431-018-0221-4. [Epub ahead of print]

PMID:
30087448
17.

Association of modifiers and other genetic factors explain Marfan syndrome clinical variability.

Aubart M, Gazal S, Arnaud P, Benarroch L, Gross MS, Buratti J, Boland A, Meyer V, Zouali H, Hanna N, Milleron O, Stheneur C, Bourgeron T, Desguerre I, Jacob MP, Gouya L, Génin E, Deleuze JF, Jondeau G, Boileau C.

Eur J Hum Genet. 2018 Aug 7. doi: 10.1038/s41431-018-0164-9. [Epub ahead of print]

PMID:
30087447
18.

Registered access: authorizing data access.

Dyke SOM, Linden M, Lappalainen I, De Argila JR, Carey K, Lloyd D, Spalding JD, Cabili MN, Kerry G, Foreman J, Cutts T, Shabani M, Rodriguez LL, Haeussler M, Walsh B, Jiang X, Wang S, Perrett D, Boughtwood T, Matern A, Brookes AJ, Cupak M, Fiume M, Pandya R, Tulchinsky I, Scollen S, Törnroos J, Das S, Evans AC, Malin BA, Beck S, Brenner SE, Nyrönen T, Blomberg N, Firth HV, Hurles M, Philippakis AA, Rätsch G, Brudno M, Boycott KM, Rehm HL, Baudis M, Sherry ST, Kato K, Knoppers BM, Baker D, Flicek P.

Eur J Hum Genet. 2018 Aug 2. doi: 10.1038/s41431-018-0219-y. [Epub ahead of print]

PMID:
30069064
19.

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia.

Michot C, Le Goff C, Blair E, Blanchet P, Capri Y, Gilbert-Dussardier B, Goldenberg A, Henderson A, Isidor B, Kayserili H, Kinning E, Le Merrer M, Lyonnet S, Odent S, Simsek-Kiper PO, Quelin C, Savarirayan R, Simon M, Splitt M, M A Verhagen J, Verloes A, Munnich A, Baujat G, Cormier-Daire V.

Eur J Hum Genet. 2018 Jul 13. doi: 10.1038/s41431-018-0135-1. [Epub ahead of print]

PMID:
30006632
20.

Before progressing from "exomes" to "genomes"… don't forget splicing variants.

Shaikh SS, Nahorski MS, Rai H, Woods CG.

Eur J Hum Genet. 2018 Jul 12. doi: 10.1038/s41431-018-0214-3. [Epub ahead of print] Review. No abstract available.

PMID:
30002500

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