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38516780,38443545,38284966,38267311,38091642,38016422,37865978,37315767,31388108,38696583,38694501,38692869,38691622,38691570,38691546,38691487,38691025,38691001,38689733,38689269,38688917,38688637,38687491,38686720,38686204,38685731,38685243,38685121,38685080,38684994,38684576,38684436,38684435,38684313,38684312,38684311,38684308,38684302,38684300,38684298,38684295,38683245,38683157,38683077,38682608,38681765,38679724,38679587,38679482,38678611,38678424,38678345,38678059,38676203,38675991,38675958,38675896,38675887,38675854,38675833,38674931,38674857,38674452,38674450,38674447,38674442,38674434,38674428,38674426,38674423,38674408,38674397,38674395,38674382,38674380,38674375,38674371,38674365,38674361,38674358,38674071,38674044,38674009,38673966,38673878,38673876,38672523,38672521,38672488,38672484,38672463,38672461,38672417,38672413,38671566,38671472,38671463,38671013,38670961,38670948,38670716,38670586,38669634,38669389,38669367,38668754,38668051,38668037,38666607,38666359,38664779,38664733,38664418,38664339,38662754,38662716,38662679,38661383,38660906,38659011,38658823,38658687,38658636,38656651,38655849,38655812,38655690,38655493,38654924,38654395,38654356,38654225,38654044,38653846,38653789,38653565,38652475,38652464,38651168,38650129,38650033,38649998,38649973,38649921,38649918,38649898,38649831,38649818,38648771,38648205,38647244,38645867,38644962,38644511,38644284,38644281,38643142,38642933,38642280,38642164,38642155,38641933,38641668,38640601,38639795,38639155,38638480,38637876,38637854,38637827,38637559,38637309,38635656,38634215,38633760,38633254,38633246,38633156,38632656,38632591,38632524,38632312,38631766,38630025,38629201,38629074,38628584,38627861,38627844,38627815,38627775,38627644,38627621,38627095,38627049,38625590,38625436,38623803,38623684,38623671,38622573,38622524,38622191,38622020,38621915,38621910,38621141,38619739,38617829,38617006,38616927,38616716,38616334,38614530,38613865,38613342,38613207,38612920,38612901,38612818,38612725,38612696,38612648,38612593,38612588,38612584,38612397,38610028,38609428,38609424,38608089,38607975,38607917,38607030,38607023,38607006,38606789,38606298,38605367,38605286,38605121,38604792,38604438,38603765,38603608,38602868,38602501,38602320,38601163,38600521,38600369,38598338,38598070,38598037,38598033,38597819,38597818,38597420,38596219,38595329,38594752,38594640,38594301,38594285,38591901,38591341,38591167,38590524,38590440,38589954,38589930,38589916,38589367,38589357,38589248,38588858,38588001,38587549,38587439,38586596,38586466,38586452,38584647,38584335,38584252,38584145,38581124,38580983,38580957,38580818,38579585,38579030,38578558,38578475,38578387,38578368,38578360,38578354,38578040,38577740,38577561,38575892,38575661,38575601,38575573,38574833,38574109,38573021,38572648,38572647,38572513,38572476,38571958,38570875,38570774,38570685,38570547,38570366,38569273,38569152,38569035,38568967,38568932,38568911,38568465,38567606,38567309,38566992,38566246,38566229,38566089,38565881,38565666,38565591,38565516,38565515,38565511,38565508,38565507,38565504,38564005,38563968,38563820,38563227,38562051,38562046,38561841,38561822,38561801,38561798,38561362,38561223,38560567,38558817,38558807,38558366,38557908,38557815,38557496,38557491,38556574,38556426,38556338,38556105,38555857,38555111,38555108,38554778,38554725,38553670,38553547,38553515,38553482,38553020,38552554,38552526,38552306,38552051,38552044,38551961,38551774,38551368,38550599,38550580,38548767,38548397,38548140,38547923,38547882,38547698,38547584,38547545,38547254,38547067,38547036,38546894,38546523,38546522,38546521,38546517,38546326,38546223,38546151,38546112,38544690,38544685,38543847,38543837,38543730,38543708,38542876,38542788,38542485,38542455,38542395,38542251,38542233,38542208,38542179,38542139,38542117,38542065,38541145,38540420,38540415,38540405,38540404,38540390,38540380,38540362,38540347,38540345,38540337,38540325,38539202,38539137,38539105,38538865,38538656,38538601,38538464,38537948,38537844,38537595,38537477,38537427,38536913,38536871,38536820,38536816,38536538,38536229,38534090,38533865,38532508,38532502,38532461,38531653,38531023,38530241,38530023,38529536,38529280,38529201,38528672,38528561,38528503,38528022,38527837,38527506,38527110,38526859,38526300,38526134,38525876,38524638,38524137,38523374,38522809,38522492,38522248,38521994,38521969,38521774,38521284,38521175,38520679,38520674,38520595,38520572,38520250,38519883,38519231,38519141,38518732,38518681,38518657,38518020,38517847,38517703[uid]

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Results by year

Year	Number of Results
2019	1
2023	6
2024	494

500 results

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Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases.

Verdonschot JAJ, Hellebrekers DMEI, van Empel VPM, Heijligers M, de Munnik S, Coonen E, Dreesen JCMF, van den Wijngaard A, Brunner HG, Zamani Esteki M, Heymans SRB, de Die-Smulders CEM, Paulussen ADC. Verdonschot JAJ, et al. Circ Genom Precis Med. 2024 Apr;17(2):e004416. doi: 10.1161/CIRCGEN.123.004416. Epub 2024 Mar 22. Circ Genom Precis Med. 2024. PMID: 38516780 Free PMC article.

EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer.

McDevitt T, Durkie M, Arnold N, Burghel GJ, Butler S, Claes KBM, Logan P, Robinson R, Sheils K, Wolstenholme N, Hanson H, Turnbull C, Hume S. McDevitt T, et al. Eur J Hum Genet. 2024 May;32(5):479-488. doi: 10.1038/s41431-023-01507-5. Epub 2024 Mar 5. Eur J Hum Genet. 2024. PMID: 38443545 Free PMC article. Review.

The American Association for Thoracic Surgery (AATS) 2023 Expert Consensus Document: Recommendation for the care of children with trisomy 13 or trisomy 18 and a congenital heart defect.

St Louis JD, Bhat A, Carey JC, Lin AE, Mann PC, Smith LM, Wilfond BS, Kosiv KA, Sorabella RA, Alsoufi B. St Louis JD, et al. J Thorac Cardiovasc Surg. 2024 May;167(5):1519-1532. doi: 10.1016/j.jtcvs.2023.11.054. Epub 2024 Jan 27. J Thorac Cardiovasc Surg. 2024. PMID: 38284966

[Suspicion of constitutional abnormality at diagnosis of childhood leukemia: Update of the leukemia committee of the French Society of Childhood Cancers].

Strullu M, Cousin E, de Montgolfier S, Fenwarth L, Gachard N, Arnoux I, Duployez N, Girard S, Guilmatre A, Lafage M, Loosveld M, Petit A, Perrin L, Vial Y, Saultier P. Strullu M, et al. Bull Cancer. 2024 Mar;111(3):291-309. doi: 10.1016/j.bulcan.2023.11.011. Epub 2024 Jan 23. Bull Cancer. 2024. PMID: 38267311 French.

Cytogenetics in the management of myelodysplastic neoplasms (myelodysplastic syndromes, MDS): Guidelines from the groupe francophone de cytogénétique hématologique (GFCH).

Auger N, Douet-Guilbert N, Quessada J, Theisen O, Lafage-Pochitaloff M, Troadec MB. Auger N, et al. Curr Res Transl Med. 2023 Oct-Dec;71(4):103409. doi: 10.1016/j.retram.2023.103409. Epub 2023 Sep 17. Curr Res Transl Med. 2023. PMID: 38091642

Cytogenetics in the management of bone marrow failure syndromes: Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH).

Cuccuini W, Collonge-Rame MA, Auger N, Douet-Guilbert N, Coster L, Lafage-Pochitaloff M. Cuccuini W, et al. Curr Res Transl Med. 2023 Oct-Dec;71(4):103423. doi: 10.1016/j.retram.2023.103423. Epub 2023 Oct 18. Curr Res Transl Med. 2023. PMID: 38016422

Cytogenetics in the management of hematologic neoplasms with germline predisposition: guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH).

Gachard N, Lafage-Pochitaloff M, Quessada J, Auger N, Collonge-Rame MA. Gachard N, et al. Curr Res Transl Med. 2023 Oct-Dec;71(4):103416. doi: 10.1016/j.retram.2023.103416. Epub 2023 Oct 21. Curr Res Transl Med. 2023. PMID: 37865978 Review.

Use of multi-gene panels in patients at high risk of hereditary digestive cancer: position statement of AEG, SEOM, AEGH and IMPaCT-GENÓMICA consortium.

Carballal S, Balaguer F, Bujanda L, Capellá G, González Santiago S, Jover R, Moreira L, Pineda M, Ruiz-Ponte C, Sánchez Heras AB, Serrano Blanch R, Soto JL, Vidal Tocino R, Cubiella J; en representación de AEG; SEOM; AEGH y consorcio IMPaCT-Genómica. Carballal S, et al. Gastroenterol Hepatol. 2024 Mar;47(3):293-318. doi: 10.1016/j.gastrohep.2023.06.004. Epub 2023 Jun 13. Gastroenterol Hepatol. 2024. PMID: 37315767 English, Spanish.

De novo AFF3 variant in a patient with mesomelic dysplasia with foot malformation.

Shimizu D, Sakamoto R, Yamoto K, Saitsu H, Fukami M, Nishimura G, Ogata T. Shimizu D, et al. J Hum Genet. 2019 Oct;64(10):1041-1044. doi: 10.1038/s10038-019-0650-0. Epub 2019 Aug 6. J Hum Genet. 2019. PMID: 31388108

Risk of meningomyelocele mediated by the common 22q11.2 deletion.

Vong KI, Lee S, Au KS, Crowley TB, Capra V, Martino J, Haller M, Araújo C, Machado HR, George R, Gerding B, James KN, Stanley V, Jiang N, Alu K, Meave N, Nidhiry AS, Jiwani F, Tang I, Nisal A, Jhamb I, Patel A, Patel A, McEvoy-Venneri J, Barrows C, Shen C, Ha YJ, Howarth R, Strain M, Ashley-Koch AE, Azam M, Mumtaz S, Bot GM, Finnell RH, Kibar Z, Marwan AI, Melikishvili G, Meltzer HS, Mutchinick OM, Stevenson DA, Mroczkowski HJ, Ostrander B, Schindewolf E, Moldenhauer J, Zackai EH, Emanuel BS, Garcia-Minaur S, Nowakowska BA, Stevenson RE, Zaki MS, Northrup H, McNamara HK, Aldinger KA, Phelps IG, Deng M, Glass IA; Spina Bifida Sequencing Consortium‡; Morrow B, McDonald-McGinn DM, Sanna-Cherchi S, Lamb DJ, Gleeson JG, Koch AEA, Meltzer HS, Le J, Au KS, Northrup H, Bot GM, Capra V, Finnell RH, Kibar Z, Lupo PJ, Machado HR, Araújo C, Magana T, Marwan AI, Melikishvili G, Mutchinick OM, Stevenson RE, Yurrita A, Zaki MS, Mumtaz S, Medina-Bereciartu JR, Kolvenbach CM, Shril S, Hildebrandt F, Noureldeen MM, Salem AM, Takahashi Y, Salimi-Dafsari H, Phillips HW, Hanak B, Kara B, Güneş AS, Gonda DD, Kirmani S, Tkemaladze T, Gleeson JG. Vong KI, et al. Science. 2024 May 3;384(6695):584-590. doi: 10.1126/science.adl1624. Epub 2024 May 2. Science. 2024. PMID: 38696583

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