134 related articles for article (PubMed ID: 37621647)
1. Familial and genetic association with neurodevelopmental disorders caused by a heterozygous variant in the
Zhang T; Xu L; Zhu H; Ying Y; Ding J; Ding H; Shi X; He Y; Jin X; Xia G
Front Endocrinol (Lausanne); 2023; 14():1240168. PubMed ID: 37621647
[TBL] [Abstract][Full Text] [Related]
2. Retrospective identification of patients with SRRM2-related neurodevelopmental disorder in a single tertiary children's hospital.
Regan-Fendt KE; Rippert AL; Medne L; Skraban CM; DeJesse J; Gray C; Reichert SL; Staropoli NP; Santos FJR; Krantz ID; Murrell JR; Izumi K
Am J Med Genet A; 2023 Aug; 191(8):2149-2155. PubMed ID: 37212523
[TBL] [Abstract][Full Text] [Related]
3. Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.
Cuinat S; Nizon M; Isidor B; Stegmann A; van Jaarsveld RH; van Gassen KL; van der Smagt JJ; Volker-Touw CML; Holwerda SJB; Terhal PA; Schuhmann S; Vasileiou G; Khalifa M; Nugud AA; Yasaei H; Ousager LB; Brasch-Andersen C; Deb W; Besnard T; Simon MEH; Amsterdam KH; Verbeek NE; Matalon D; Dykzeul N; White S; Spiteri E; Devriendt K; Boogaerts A; Willemsen M; Brunner HG; Sinnema M; De Vries BBA; Gerkes EH; Pfundt R; Izumi K; Krantz ID; Xu ZL; Murrell JR; Valenzuela I; Cusco I; Rovira-Moreno E; Yang Y; Bizaoui V; Patat O; Faivre L; Tran-Mau-Them F; Vitobello A; Denommé-Pichon AS; Philippe C; Bezieau S; Cogné B
Genet Med; 2022 Aug; 24(8):1774-1780. PubMed ID: 35567594
[TBL] [Abstract][Full Text] [Related]
4. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
Gillentine MA; Wang T; Hoekzema K; Rosenfeld J; Liu P; Guo H; Kim CN; De Vries BBA; Vissers LELM; Nordenskjold M; Kvarnung M; Lindstrand A; Nordgren A; Gecz J; Iascone M; Cereda A; Scatigno A; Maitz S; Zanni G; Bertini E; Zweier C; Schuhmann S; Wiesener A; Pepper M; Panjwani H; Torti E; Abid F; Anselm I; Srivastava S; Atwal P; Bacino CA; Bhat G; Cobian K; Bird LM; Friedman J; Wright MS; Callewaert B; Petit F; Mathieu S; Afenjar A; Christensen CK; White KM; Elpeleg O; Berger I; Espineli EJ; Fagerberg C; Brasch-Andersen C; Hansen LK; Feyma T; Hughes S; Thiffault I; Sullivan B; Yan S; Keller K; Keren B; Mignot C; Kooy F; Meuwissen M; Basinger A; Kukolich M; Philips M; Ortega L; Drummond-Borg M; Lauridsen M; Sorensen K; Lehman A; ; Lopez-Rangel E; Levy P; Lessel D; Lotze T; Madan-Khetarpal S; Sebastian J; Vento J; Vats D; Benman LM; Mckee S; Mirzaa GM; Muss C; Pappas J; Peeters H; Romano C; Elia M; Galesi O; Simon MEH; van Gassen KLI; Simpson K; Stratton R; Syed S; Thevenon J; Palafoll IV; Vitobello A; Bournez M; Faivre L; Xia K; ; Earl RK; Nowakowski T; Bernier RA; Eichler EE
Genome Med; 2021 Apr; 13(1):63. PubMed ID: 33874999
[TBL] [Abstract][Full Text] [Related]
5. A De Novo heterozygous frameshift mutation identified in BCL11B causes neurodevelopmental disorder by whole exome sequencing.
Qiao F; Wang C; Luo C; Wang Y; Shao B; Tan J; Hu P; Xu Z
Mol Genet Genomic Med; 2019 Sep; 7(9):e897. PubMed ID: 31347296
[TBL] [Abstract][Full Text] [Related]
6. Prenatal Diagnosis of
Lei T; Zhen L; Yang X; Pan M; Fu F; Han J; Li L; Li D; Liao C
Genes (Basel); 2023 Jan; 14(1):. PubMed ID: 36672867
[No Abstract] [Full Text] [Related]
7. Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder.
Millan F; Cho MT; Retterer K; Monaghan KG; Bai R; Vitazka P; Everman DB; Smith B; Angle B; Roberts V; Immken L; Nagakura H; DiFazio M; Sherr E; Haverfield E; Friedman B; Telegrafi A; Juusola J; Chung WK; Bale S
Am J Med Genet A; 2016 Jul; 170(7):1791-8. PubMed ID: 27133397
[TBL] [Abstract][Full Text] [Related]
8. Pathogenic
Song JM; Kang M; Park DH; Park S; Lee S; Suh YH
J Neurosci; 2021 Mar; 41(11):2344-2359. PubMed ID: 33500274
[TBL] [Abstract][Full Text] [Related]
9. Delineation of functionally essential protein regions for 242 neurodevelopmental genes.
Iqbal S; Brünger T; Pérez-Palma E; Macnee M; Brunklaus A; Daly MJ; Campbell AJ; Hoksza D; May P; Lal D
Brain; 2023 Feb; 146(2):519-533. PubMed ID: 36256779
[TBL] [Abstract][Full Text] [Related]
10. De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.
Dulovic-Mahlow M; Trinh J; Kandaswamy KK; Braathen GJ; Di Donato N; Rahikkala E; Beblo S; Werber M; Krajka V; Busk ØL; Baumann H; Al-Sannaa NA; Hinrichs F; Affan R; Navot N; Al Balwi MA; Oprea G; Holla ØL; Weiss MER; Jamra RA; Kahlert AK; Kishore S; Tveten K; Vos M; Rolfs A; Lohmann K
Am J Hum Genet; 2019 Jul; 105(1):213-220. PubMed ID: 31230721
[TBL] [Abstract][Full Text] [Related]
11. Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders.
Álvarez-Mora MI; Sánchez A; Rodríguez-Revenga L; Corominas J; Rabionet R; Puig S; Madrigal I
Orphanet J Rare Dis; 2022 Feb; 17(1):60. PubMed ID: 35183220
[TBL] [Abstract][Full Text] [Related]
12. De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
Brunet T; Jech R; Brugger M; Kovacs R; Alhaddad B; Leszinski G; Riedhammer KM; Westphal DS; Mahle I; Mayerhanser K; Skorvanek M; Weber S; Graf E; Berutti R; Necpál J; Havránková P; Pavelekova P; Hempel M; Kotzaeridou U; Hoffmann GF; Leiz S; Makowski C; Roser T; Schroeder SA; Steinfeld R; Strobl-Wildemann G; Hoefele J; Borggraefe I; Distelmaier F; Strom TM; Winkelmann J; Meitinger T; Zech M; Wagner M
Clin Genet; 2021 Jul; 100(1):14-28. PubMed ID: 33619735
[TBL] [Abstract][Full Text] [Related]
13. Genetic and environmental modulation of neurodevelopmental disorders: Translational insights from labs to beds.
Homberg JR; Kyzar EJ; Scattoni ML; Norton WH; Pittman J; Gaikwad S; Nguyen M; Poudel MK; Ullmann JF; Diamond DM; Kaluyeva AA; Parker MO; Brown RE; Song C; Gainetdinov RR; Gottesman II; Kalueff AV
Brain Res Bull; 2016 Jul; 125():79-91. PubMed ID: 27113433
[TBL] [Abstract][Full Text] [Related]
14. Description of neurodevelopmental phenotypes associated with 10 genetic neurodevelopmental disorders: A scoping review.
Hanly C; Shah H; Au PYB; Murias K
Clin Genet; 2021 Mar; 99(3):335-346. PubMed ID: 33179249
[TBL] [Abstract][Full Text] [Related]
15. A novel homozygous truncating variant in PPFIBP1 further delineates PPFIBP1-associated neurodevelopmental disorder.
Waqas A; Liaqat R; Shaheen S; Khan AZ; Mujahid ; Habib AH; Binothman N; Aljadani M; Zehri Z; Shaheen S; Alkathiri A; Naz R; Umair M; Abbas S
Int J Dev Neurosci; 2023 Apr; 83(2):191-200. PubMed ID: 36527195
[TBL] [Abstract][Full Text] [Related]
16. Generation of DNA Methylation Signatures and Classification of Variants in Rare Neurodevelopmental Disorders Using EpigenCentral.
Awamleh Z; Goodman S; Kallurkar P; Wu W; Lu K; Choufani S; Turinsky AL; Weksberg R
Curr Protoc; 2022 Nov; 2(11):e597. PubMed ID: 36367395
[TBL] [Abstract][Full Text] [Related]
17. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.
Srivastava S; Love-Nichols JA; Dies KA; Ledbetter DH; Martin CL; Chung WK; Firth HV; Frazier T; Hansen RL; Prock L; Brunner H; Hoang N; Scherer SW; Sahin M; Miller DT;
Genet Med; 2019 Nov; 21(11):2413-2421. PubMed ID: 31182824
[TBL] [Abstract][Full Text] [Related]
18. A novel 1p13.2 deletion associates with neurodevelopmental disorders in a three-generation pedigree.
Yu L; Ding H; Liu M; Liu L; Zhang Q; Lu J; Guo F; Zhang Y
BMC Med Genomics; 2023 May; 16(1):114. PubMed ID: 37221554
[TBL] [Abstract][Full Text] [Related]
19. De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus.
Nabais Sá MJ; Olson AN; Yoon G; Nimmo GAM; Gomez CM; Willemsen MA; Millan F; Schneider A; Pfundt R; de Brouwer APM; Dinman JD; de Vries BBA
Hum Mol Genet; 2021 Feb; 29(24):3892-3899. PubMed ID: 33355653
[TBL] [Abstract][Full Text] [Related]
20. Utilization of the Maternal and Child Health Handbook in Early Identification of Autism Spectrum Disorder and Other Neurodevelopmental Disorders.
Hirota T; Bishop S; Adachi M; Shui A; Takahashi M; Mori H; Nakamura K
Autism Res; 2021 Mar; 14(3):551-559. PubMed ID: 33251760
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
