71 related articles for article (PubMed ID: 35684978)
1. Prenatal diagnosis of a germline variant in TRAF7: Importance of accessibility to prenatal exome sequencing in cases of structural fetal anomalies.
Malinowski A; Elsamadicy EA; Turan S
Clin Genet; 2022 Aug; 102(2):164-165. PubMed ID: 35684978
[TBL] [Abstract][Full Text] [Related]
2. De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.
Tokita MJ; Chen CA; Chitayat D; Macnamara E; Rosenfeld JA; Hanchard N; Lewis AM; Brown CW; Marom R; Shao Y; Novacic D; Wolfe L; Wahl C; Tifft CJ; Toro C; Bernstein JA; Hale CL; Silver J; Hudgins L; Ananth A; Hanson-Kahn A; Shuster S; ; Magoulas PL; Patel VN; Zhu W; Chen SM; Jiang Y; Liu P; Eng CM; Batkovskyte D; di Ronza A; Sardiello M; Lee BH; Schaaf CP; Yang Y; Wang X
Am J Hum Genet; 2018 Jul; 103(1):154-162. PubMed ID: 29961569
[TBL] [Abstract][Full Text] [Related]
3. Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?
Bourgon N; Garde A; Bruel AL; Lefebvre M; Mau-Them FT; Moutton S; Sorlin A; Nambot S; Delanne J; Chevarin M; Pöe C; Thevenon J; Lehalle D; Jean-Marçais N; Kuentz P; Lambert L; El Chehadeh S; Schaefer E; Willems M; Laffargue F; Francannet C; Fradin M; Gaillard D; Blesson S; Goldenberg A; Capri Y; Sagot P; Rousseau T; Simon E; Binquet C; Ascencio ML; Duffourd Y; Philippe C; Faivre L; Vitobello A; Thauvin-Robinet C
Eur J Hum Genet; 2022 Aug; 30(8):967-975. PubMed ID: 35577939
[TBL] [Abstract][Full Text] [Related]
4. Evolving fetal phenotypes and clinical impact of progressive prenatal exome sequencing pathways: cohort study.
Mone F; Abu Subieh H; Doyle S; Hamilton S; Mcmullan DJ; Allen S; Marton T; Williams D; Kilby MD
Ultrasound Obstet Gynecol; 2022 Jun; 59(6):723-730. PubMed ID: 34940998
[TBL] [Abstract][Full Text] [Related]
5. Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management.
Chandler N; Best S; Hayward J; Faravelli F; Mansour S; Kivuva E; Tapon D; Male A; DeVile C; Chitty LS
Genet Med; 2018 Nov; 20(11):1430-1437. PubMed ID: 29595812
[TBL] [Abstract][Full Text] [Related]
6. Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience.
Kucińska-Chahwan A; Geremek M; Roszkowski T; Bijok J; Massalska D; Ciebiera M; Correia H; Pereira-Caetano I; Barreta A; Obersztyn E; Kutkowska-Kaźmierczak A; Własienko P; Krajewska-Walasek M; Węgrzyn P; Dudarewicz L; Krzeszowski W; Rybak-Krzyszkowska M; Nowakowska B
Genes (Basel); 2022 Apr; 13(5):. PubMed ID: 35627109
[TBL] [Abstract][Full Text] [Related]
7. An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.
Vora NL; Gilmore K; Brandt A; Gustafson C; Strande N; Ramkissoon L; Hardisty E; Foreman AKM; Wilhelmsen K; Owen P; Weck KE; Berg JS; Powell CM; Powell BC
Genet Med; 2020 May; 22(5):954-961. PubMed ID: 31974414
[TBL] [Abstract][Full Text] [Related]
8. Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies.
Alamillo CL; Powis Z; Farwell K; Shahmirzadi L; Weltmer EC; Turocy J; Lowe T; Kobelka C; Chen E; Basel D; Ashkinadze E; D'Augelli L; Chao E; Tang S
Prenat Diagn; 2015 Nov; 35(11):1073-8. PubMed ID: 26147564
[TBL] [Abstract][Full Text] [Related]
9. Prenatal exome and genome sequencing for fetal structural abnormalities.
Vora NL; Norton ME
Am J Obstet Gynecol; 2023 Feb; 228(2):140-149. PubMed ID: 36027950
[TBL] [Abstract][Full Text] [Related]
10. Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts.
Marangoni M; Smits G; Ceysens G; Costa E; Coulon R; Daelemans C; De Coninck C; Derisbourg S; Gajewska K; Garofalo G; Gounongbe C; Guizani M; Holoye A; Houba C; Makhoul J; Norgaard C; Regnard C; Romée S; Soto J; Stagel-Trabbia A; Van Rysselberge M; Vercoutere A; Zaytouni S; Bouri S; D'Haene N; D'Onle D; Dugauquier C; Racu ML; Rocq L; Segers V; Verocq C; Avni EF; Cassart M; Massez A; Blaumeiser B; Brischoux-Boucher E; Bulk S; De Ravel T; Debray G; Dimitrov B; Janssens S; Keymolen K; Laterre M; van Berkel K; Van Maldergem L; Vandernoot I; Vilain C; Donner C; Tecco L; Thomas D; Désir J; Abramowicz M; Migeotte I
Genet Med; 2022 Feb; 24(2):344-363. PubMed ID: 34906519
[TBL] [Abstract][Full Text] [Related]
11. Access to prenatal exome sequencing for fetal malformations: A qualitative landscape analysis in the US.
Sahin-Hodoglugil NN; Lianoglou BR; Ackerman S; Sparks TN; Norton ME
Prenat Diagn; 2023 Oct; 43(11):1394-1405. PubMed ID: 37752660
[TBL] [Abstract][Full Text] [Related]
12. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
Castilla-Vallmanya L; Selmer KK; Dimartino C; Rabionet R; Blanco-Sánchez B; Yang S; Reijnders MRF; van Essen AJ; Oufadem M; Vigeland MD; Stadheim B; Houge G; Cox H; Kingston H; Clayton-Smith J; Innis JW; Iascone M; Cereda A; Gabbiadini S; Chung WK; Sanders V; Charrow J; Bryant E; Millichap J; Vitobello A; Thauvin C; Mau-Them FT; Faivre L; Lesca G; Labalme A; Rougeot C; Chatron N; Sanlaville D; Christensen KM; Kirby A; Lewandowski R; Gannaway R; Aly M; Lehman A; Clarke L; Graul-Neumann L; Zweier C; Lessel D; Lozic B; Aukrust I; Peretz R; Stratton R; Smol T; Dieux-Coëslier A; Meira J; Wohler E; Sobreira N; Beaver EM; Heeley J; Briere LC; High FA; Sweetser DA; Walker MA; Keegan CE; Jayakar P; Shinawi M; Kerstjens-Frederikse WS; Earl DL; Siu VM; Reesor E; Yao T; Hegele RA; Vaske OM; Rego S; ; Shapiro KA; Wong B; Gambello MJ; McDonald M; Karlowicz D; Colombo R; Serretti A; Pais L; O'Donnell-Luria A; Wray A; Sadedin S; Chong B; Tan TY; Christodoulou J; White SM; Slavotinek A; Barbouth D; Morel Swols D; Parisot M; Bole-Feysot C; Nitschké P; Pingault V; Munnich A; Cho MT; Cormier-Daire V; Balcells S; Lyonnet S; Grinberg D; Amiel J; Urreizti R; Gordon CT
Genet Med; 2020 Jul; 22(7):1215-1226. PubMed ID: 32376980
[TBL] [Abstract][Full Text] [Related]
13. The utility of pathologic examination and comprehensive phenotyping for accurate diagnosis with perinatal exome sequencing.
Swanson K; Norton ME; Lianoglou BR; Jelin AC; Hodoglugil U; Van Ziffle J; Devine P; Sparks TN
Prenat Diagn; 2022 Sep; 42(10):1288-1294. PubMed ID: 35723972
[TBL] [Abstract][Full Text] [Related]
14. Prenatal ultrasound diagnosis of Seckel syndrome with bi-allelic variant in TRAIP via exome sequencing.
Conrad D; Stanley C; Denney J; Quinn K
J Clin Ultrasound; 2022 Mar; 50(3):395-398. PubMed ID: 34235748
[TBL] [Abstract][Full Text] [Related]
15. Parental experiences of rapid exome sequencing in cases with major ultrasound anomalies during pregnancy.
Plantinga M; Zwienenberg L; van Dijk E; Breet H; Diphoorn J; El Mecky J; Bouman K; Verheij J; Birnie E; Ranchor AV; Corsten-Janssen N; van Langen IM
Prenat Diagn; 2022 May; 42(6):762-774. PubMed ID: 34643287
[TBL] [Abstract][Full Text] [Related]
16. Whole-exome sequencing for diagnosis of Peters-plus syndrome after prenatal diagnosis of recurrent low PAPP-A and multiple fetal anomalies in two consecutive pregnancies.
Kamalapathy P; Fonda Allen JS; Macri CJ; Lawrence AK; Regier DS; Rubio EI
J Neonatal Perinatal Med; 2019; 12(3):333-338. PubMed ID: 31476172
[TBL] [Abstract][Full Text] [Related]
17. The prevalence of prenatal sonographic findings in postnatal diagnostic exome sequencing performed for neurocognitive phenotypes: A cohort study.
Sukenik-Halevy R; Perlman S; Ruhrman-Shahar N; Engel O; Orenstein N; Gonzaga-Jauregui C; Shuldiner AR; ; Magal N; Hagari O; Azulay N; Lidzbarsky GA; Bazak L; Basel-Salmon L
Prenat Diagn; 2022 May; 42(6):717-724. PubMed ID: 35032046
[TBL] [Abstract][Full Text] [Related]
18. Impact of prenatal exome sequencing for fetal genetic diagnosis on maternal psychological outcomes and decisional conflict in a prospective cohort.
Talati AN; Gilmore KL; Hardisty EE; Lyerly AD; Rini C; Vora NL
Genet Med; 2021 Apr; 23(4):713-719. PubMed ID: 33214710
[TBL] [Abstract][Full Text] [Related]
19. Lack of consensus among healthcare professionals at a large academic medical center on the use of exome sequencing for prenatal diagnosis.
Johnson K; Erfani H; Maktabi MA; Van den Veyver I; Nassef S
J Genet Couns; 2022 Dec; 31(6):1330-1340. PubMed ID: 35799470
[TBL] [Abstract][Full Text] [Related]
20. Application of exome sequencing for prenatal diagnosis: a rapid scoping review.
Pratt M; Garritty C; Thuku M; Esmaeilisaraji L; Hamel C; Hartley T; Millar K; Skidmore B; Dougan S; Armour CM
Genet Med; 2020 Dec; 22(12):1925-1934. PubMed ID: 32747765
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
