170 related articles for article (PubMed ID: 34321325)
1. Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy.
Yechieli M; Gulsuner S; Ben-Pazi H; Fattal A; Aran A; Kuzminsky A; Sagi L; Guttman D; Schneebaum Sender N; Gross-Tsur V; Klopstock T; Walsh T; Renbaum P; Zeligson S; Shemer Meiri L; Lev D; Shmueli D; Blumkin L; Lahad A; King MC; Levy EL; Segel R
J Med Genet; 2022 Aug; 59(8):759-767. PubMed ID: 34321325
[TBL] [Abstract][Full Text] [Related]
2. Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy: A Systematic Review and Meta-analysis.
Srivastava S; Lewis SA; Cohen JS; Zhang B; Aravamuthan BR; Chopra M; Sahin M; Kruer MC; Poduri A
JAMA Neurol; 2022 Dec; 79(12):1287-1295. PubMed ID: 36279113
[TBL] [Abstract][Full Text] [Related]
3. Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing.
Wu R; Li X; Meng Z; Li P; He Z; Liang L
Orphanet J Rare Dis; 2024 May; 19(1):205. PubMed ID: 38764027
[TBL] [Abstract][Full Text] [Related]
4. Mendelian etiologies identified with whole exome sequencing in cerebral palsy.
Chopra M; Gable DL; Love-Nichols J; Tsao A; Rockowitz S; Sliz P; Barkoudah E; Bastianelli L; Coulter D; Davidson E; DeGusmao C; Fogelman D; Huth K; Marshall P; Nimec D; Sanders JS; Shore BJ; Snyder B; Stone SSD; Ubeda A; Watkins C; Berde C; Bolton J; Brownstein C; Costigan M; Ebrahimi-Fakhari D; Lai A; O'Donnell-Luria A; Paciorkowski AR; Pinto A; Pugh J; Rodan L; Roe E; Swanson L; Zhang B; Kruer MC; Sahin M; Poduri A; Srivastava S
Ann Clin Transl Neurol; 2022 Feb; 9(2):193-205. PubMed ID: 35076175
[TBL] [Abstract][Full Text] [Related]
5. Cerebral palsy and related neuromotor disorders: Overview of genetic and genomic studies.
Friedman JM; van Essen P; van Karnebeek CDM
Mol Genet Metab; 2022 Dec; 137(4):399-419. PubMed ID: 34872807
[TBL] [Abstract][Full Text] [Related]
6. Whole Genome Sequencing in the Evaluation of Fetal Structural Anomalies: A Parallel Test with Chromosomal Microarray Plus Whole Exome Sequencing.
Zhou J; Yang Z; Sun J; Liu L; Zhou X; Liu F; Xing Y; Cui S; Xiong S; Liu X; Yang Y; Wei X; Zou G; Wang Z; Wei X; Wang Y; Zhang Y; Yan S; Wu F; Zeng F; Wang J; Duan T; Peng Z; Sun L
Genes (Basel); 2021 Mar; 12(3):. PubMed ID: 33800913
[TBL] [Abstract][Full Text] [Related]
7. Comprehensive prenatal diagnostics: Exome versus genome sequencing.
Miceikaite I; Fagerberg C; Brasch-Andersen C; Torring PM; Kristiansen BS; Hao Q; Sperling L; Ibsen MH; Löser K; Bendsen EA; Ousager LB; Larsen MJ
Prenat Diagn; 2023 Aug; 43(9):1132-1141. PubMed ID: 37355983
[TBL] [Abstract][Full Text] [Related]
8. Copy number variations in cryptogenic cerebral palsy.
Segel R; Ben-Pazi H; Zeligson S; Fatal-Valevski A; Aran A; Gross-Tsur V; Schneebaum-Sender N; Shmueli D; Lev D; Perlberg S; Blumkin L; Deutsch L; Levy-Lahad E
Neurology; 2015 Apr; 84(16):1660-8. PubMed ID: 25817843
[TBL] [Abstract][Full Text] [Related]
9. Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.
Tammimies K; Marshall CR; Walker S; Kaur G; Thiruvahindrapuram B; Lionel AC; Yuen RK; Uddin M; Roberts W; Weksberg R; Woodbury-Smith M; Zwaigenbaum L; Anagnostou E; Wang Z; Wei J; Howe JL; Gazzellone MJ; Lau L; Sung WW; Whitten K; Vardy C; Crosbie V; Tsang B; D'Abate L; Tong WW; Luscombe S; Doyle T; Carter MT; Szatmari P; Stuckless S; Merico D; Stavropoulos DJ; Scherer SW; Fernandez BA
JAMA; 2015 Sep; 314(9):895-903. PubMed ID: 26325558
[TBL] [Abstract][Full Text] [Related]
10. Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study.
Petrovski S; Aggarwal V; Giordano JL; Stosic M; Wou K; Bier L; Spiegel E; Brennan K; Stong N; Jobanputra V; Ren Z; Zhu X; Mebane C; Nahum O; Wang Q; Kamalakaran S; Malone C; Anyane-Yeboa K; Miller R; Levy B; Goldstein DB; Wapner RJ
Lancet; 2019 Feb; 393(10173):758-767. PubMed ID: 30712878
[TBL] [Abstract][Full Text] [Related]
11. Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test.
Sheth F; Shah J; Jain D; Shah S; Patel H; Patel K; Solanki DI; Iyer AS; Menghani B; Mhatre P; Mehta S; Bajaj S; Patel V; Pandya M; Dhami D; Patel D; Sheth J; Sheth H
BMC Neurol; 2023 Aug; 23(1):292. PubMed ID: 37543562
[TBL] [Abstract][Full Text] [Related]
12. Hidden etiology of cerebral palsy: genetic and clinical heterogeneity and efficient diagnosis by next-generation sequencing.
Rosello M; Caro-Llopis A; Orellana C; Oltra S; Alemany-Albert M; Marco-Hernandez AV; Monfort S; Pedrola L; Martinez F; Tomás M
Pediatr Res; 2021 Aug; 90(2):284-288. PubMed ID: 33177673
[TBL] [Abstract][Full Text] [Related]
13. De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy.
Zarrei M; Fehlings DL; Mawjee K; Switzer L; Thiruvahindrapuram B; Walker S; Merico D; Casallo G; Uddin M; MacDonald JR; Gazzellone MJ; Higginbotham EJ; Campbell C; deVeber G; Frid P; Gorter JW; Hunt C; Kawamura A; Kim M; McCormick A; Mesterman R; Samdup D; Marshall CR; Stavropoulos DJ; Wintle RF; Scherer SW
Genet Med; 2018 Feb; 20(2):172-180. PubMed ID: 28771244
[TBL] [Abstract][Full Text] [Related]
14. Simultaneous Detection of CNVs and SNVs Improves the Diagnostic Yield of Fetuses with Ultrasound Anomalies and Normal Karyotypes.
Qi Q; Jiang Y; Zhou X; Meng H; Hao N; Chang J; Bai J; Wang C; Wang M; Guo J; Ouyang Y; Xu Z; Xiao M; Zhang VW; Liu J
Genes (Basel); 2020 Nov; 11(12):. PubMed ID: 33255631
[TBL] [Abstract][Full Text] [Related]
15. Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes.
Al-Hamed MH; Kurdi W; Khan R; Tulbah M; AlNemer M; AlSahan N; AlMugbel M; Rafiullah R; Assoum M; Monies D; Shah Z; Rahbeeni Z; Derar N; Hakami F; Almutairi G; AlOtaibi A; Ali W; AlShammasi A; AlMubarak W; AlDawoud S; AlAmri S; Saeed B; Bukhari H; Ali M; Akili R; Alquayt L; Hagos S; Elbardisy H; Akilan A; Almuhana N; AlKhalifah A; Abouelhoda M; Ramzan K; Sayer JA; Imtiaz F
Hum Genet; 2022 Jan; 141(1):101-126. PubMed ID: 34853893
[TBL] [Abstract][Full Text] [Related]
16. Diagnostic Yield and Economic Implications of Whole-Exome Sequencing for ASD Diagnosis in Israel.
Tal-Ben Ishay R; Shil A; Solomon S; Sadigurschi N; Abu-Kaf H; Meiri G; Flusser H; Michaelovski A; Dinstein I; Golan H; Davidovitch N; Menashe I
Genes (Basel); 2021 Dec; 13(1):. PubMed ID: 35052376
[TBL] [Abstract][Full Text] [Related]
17. Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.
Dharmadhikari AV; Ghosh R; Yuan B; Liu P; Dai H; Al Masri S; Scull J; Posey JE; Jiang AH; He W; Vetrini F; Braxton AA; Ward P; Chiang T; Qu C; Gu S; Shaw CA; Smith JL; Lalani S; Stankiewicz P; Cheung SW; Bacino CA; Patel A; Breman AM; Wang X; Meng L; Xiao R; Xia F; Muzny D; Gibbs RA; Beaudet AL; Eng CM; Lupski JR; Yang Y; Bi W
Genome Med; 2019 May; 11(1):30. PubMed ID: 31101064
[TBL] [Abstract][Full Text] [Related]
18. [Genetic diagnosis of microcephaly].
Liao XF; Liao BJ; Tan WH; Wang L; Wang DD; Tang EF; Li FG; Pan XF; Ji LH; She Q
Zhonghua Fu Chan Ke Za Zhi; 2023 Mar; 58(3):178-184. PubMed ID: 36935194
[No Abstract] [Full Text] [Related]
19. Additive Diagnostic Yield of Homozygosity Regions Identified During Chromosomal microarray Testing in Children with Developmental Delay, Dysmorphic Features or Congenital Anomalies.
Ali MAM; Hassan AM; Saafan MA; Abdelmagid AA
Biochem Genet; 2020 Feb; 58(1):74-101. PubMed ID: 31273557
[TBL] [Abstract][Full Text] [Related]
20. Incorporation of exome-based CNV analysis makes trio-WES a more powerful tool for clinical diagnosis in neurodevelopmental disorders: A retrospective study.
Zhai Y; Zhang Z; Shi P; Martin DM; Kong X
Hum Mutat; 2021 Aug; 42(8):990-1004. PubMed ID: 34015165
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
