138 related articles for article (PubMed ID: 38158856)
1. Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.
Scala M; Khan K; Beneteau C; Fox RG; von Hardenberg S; Khan A; Joubert M; Fievet L; Musquer M; Le Vaillant C; Holsclaw JK; Lim D; Berking AC; Accogli A; Giacomini T; Nobili L; Striano P; Zara F; Torella A; Nigro V; Cogné B; Salick MR; Kaykas A; Eggan K; Capra V; Bézieau S; Davis EE; Wells MF
Genet Med; 2024 Apr; 26(4):101057. PubMed ID: 38158856
[TBL] [Abstract][Full Text] [Related]
2. De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.
Fan Y; Yin W; Hu B; Kline AD; Zhang VW; Liang D; Sun Y; Wang L; Tang S; Powis Z; Li L; Yan H; Shi Z; Yang X; Chen Y; Wang J; Jiang Y; Tan H; Gu X; Wu L; Yu Y
Am J Hum Genet; 2018 Sep; 103(3):448-455. PubMed ID: 30122539
[TBL] [Abstract][Full Text] [Related]
3. Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 in two new patients with the same homozygous TMCO1 variant and review of the literature.
Abdelrazek IM; Holling T; Harms FL; Alawi M; Omar T; Abdalla E; Kutsche K
Eur J Med Genet; 2023 Mar; 66(3):104715. PubMed ID: 36708876
[TBL] [Abstract][Full Text] [Related]
4. Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.
Stephen J; Maddirevula S; Nampoothiri S; Burke JD; Herzog M; Shukla A; Steindl K; Eskin A; Patil SJ; Joset P; Lee H; Garrett LJ; Yokoyama T; Balanda N; Bodine SP; Tolman NJ; Zerfas PM; Zheng A; Ramantani G; Girisha KM; Rivas C; Suresh PV; Elkahloun A; Alsaif HS; Wakil SM; Mahmoud L; Ali R; Prochazkova M; ; Kulkarni AB; Ben-Omran T; Colak D; Morris HD; Rauch A; Martinez-Agosto JA; Nelson SF; Alkuraya FS; Gahl WA; Malicdan MCV
Am J Hum Genet; 2018 Dec; 103(6):948-967. PubMed ID: 30526868
[TBL] [Abstract][Full Text] [Related]
5. MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive
Rad A; Altunoglu U; Miller R; Maroofian R; James KN; Çağlayan AO; Najafi M; Stanley V; Boustany RM; Yeşil G; Sahebzamani A; Ercan-Sencicek G; Saeidi K; Wu K; Bauer P; Bakey Z; Gleeson JG; Hauser N; Gunel M; Kayserili H; Schmidts M
J Med Genet; 2019 May; 56(5):332-339. PubMed ID: 30487245
[TBL] [Abstract][Full Text] [Related]
6. Biallelic INTS1 Mutations Cause a Rare Neurodevelopmental Disorder in Two Chinese Siblings.
Zhang X; Wang Y; Yang F; Tang J; Xu X; Yang L; Yang XA; Wu D
J Mol Neurosci; 2020 Jan; 70(1):1-8. PubMed ID: 31428919
[TBL] [Abstract][Full Text] [Related]
7. Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders.
van der Donk R; Jansen S; Schuurs-Hoeijmakers JHM; Koolen DA; Goltstein LCMJ; Hoischen A; Brunner HG; Kemmeren P; Nellåker C; Vissers LELM; de Vries BBA; Hehir-Kwa JY
Genet Med; 2019 Aug; 21(8):1719-1725. PubMed ID: 30568311
[TBL] [Abstract][Full Text] [Related]
8. De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.
Diets IJ; van der Donk R; Baltrunaite K; Waanders E; Reijnders MRF; Dingemans AJM; Pfundt R; Vulto-van Silfhout AT; Wiel L; Gilissen C; Thevenon J; Perrin L; Afenjar A; Nava C; Keren B; Bartz S; Peri B; Beunders G; Verbeek N; van Gassen K; Thiffault I; Cadieux-Dion M; Huerta-Saenz L; Wagner M; Konstantopoulou V; Vodopiutz J; Griese M; Boel A; Callewaert B; Brunner HG; Kleefstra T; Hoogerbrugge N; de Vries BBA; Hwa V; Dauber A; Hehir-Kwa JY; Kuiper RP; Jongmans MCJ
Am J Hum Genet; 2019 Apr; 104(4):758-766. PubMed ID: 30929739
[TBL] [Abstract][Full Text] [Related]
9. Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features.
Ansar M; Ullah F; Paracha SA; Adams DJ; Lai A; Pais L; Iwaszkiewicz J; Millan F; Sarwar MT; Agha Z; Shah SF; Qaisar AA; Falconnet E; Zoete V; Ranza E; Makrythanasis P; Santoni FA; Ahmed J; Katsanis N; Walsh C; Davis EE; Antonarakis SE
Am J Hum Genet; 2019 Jun; 104(6):1073-1087. PubMed ID: 31079899
[TBL] [Abstract][Full Text] [Related]
10. Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
Kaiyrzhanov R; Rad A; Lin SJ; Bertoli-Avella A; Kallemeijn WW; Godwin A; Zaki MS; Huang K; Lau T; Petree C; Efthymiou S; Karimiani EG; Hempel M; Normand EA; Rudnik-Schöneborn S; Schatz UA; Baggelaar MP; Ilyas M; Sultan T; Alvi JR; Ganieva M; Fowler B; Aanicai R; Tayfun GA; Al Saman A; Alswaid A; Amiri N; Asilova N; Shotelersuk V; Yeetong P; Azam M; Babaei M; Monajemi GB; Mohammadi P; Samie S; Banu SH; Pinto Basto J; Kortüm F; Bauer M; Bauer P; Beetz C; Garshasbi M; Issa AH; Eyaid W; Ahmed H; Hashemi N; Hassanpour K; Herman I; Ibrohimov S; Abdul-Majeed BA; Imdad M; Isrofilov M; Kaiyal Q; Khan S; Kirmse B; Koster J; Lourenço CM; Mitani T; Moldovan O; Murphy D; Najafi M; Pehlivan D; Rocha ME; Salpietro V; Schmidts M; Shalata A; Mahroum M; Talbeya JK; Taylor RW; Vazquez D; Vetro A; Waterham HR; Zaman M; Schrader TA; Chung WK; Guerrini R; Lupski JR; Gleeson J; Suri M; Jamshidi Y; Bhatia KP; Vona B; Schrader M; Severino M; Guille M; Tate EW; Varshney GK; Houlden H; Maroofian R
Brain; 2024 Apr; 147(4):1436-1456. PubMed ID: 37951597
[TBL] [Abstract][Full Text] [Related]
11. Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion.
Chiu ATG; Pei SLC; Mak CCY; Leung GKC; Yu MHC; Lee SL; Vreeburg M; Pfundt R; van der Burgt I; Kleefstra T; Frederic TM; Nambot S; Faivre L; Bruel AL; Rossi M; Isidor B; Küry S; Cogne B; Besnard T; Willems M; Reijnders MRF; Chung BHY
Clin Genet; 2018 Apr; 93(4):880-890. PubMed ID: 29240241
[TBL] [Abstract][Full Text] [Related]
12. Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
Cali E; Suri M; Scala M; Ferla MP; Alavi S; Faqeih EA; Bijlsma EK; Wigby KM; Baralle D; Mehrjardi MYV; Schwab J; Platzer K; Steindl K; Hashem M; Jones M; Niyazov DM; Jacober J; Littlejohn RO; Weis D; Zadeh N; Rodan L; Goldenberg A; Lecoquierre F; Dutra-Clarke M; Horvath G; Young D; Orenstein N; Bawazeer S; Vulto-van Silfhout AT; Herenger Y; Dehghani M; Seyedhassani SM; Bahreini A; Nasab ME; Ercan-Sencicek AG; Firoozfar Z; Movahedinia M; Efthymiou S; Striano P; Karimiani EG; Salpietro V; Taylor JC; Redman M; Stegmann APA; Laner A; Abdel-Salam G; Li M; Bengala M; Müller AJ; Digilio MC; Rauch A; Gunel M; Titheradge H; Schweitzer DN; Kraus A; Valenzuela I; McLean SD; Phornphutkul C; Salih M; Begtrup A; Schnur RE; Torti E; Haack TB; Prada CE; Alkuraya FS; Houlden H; Maroofian R
Genet Med; 2023 Jan; 25(1):135-142. PubMed ID: 36399134
[TBL] [Abstract][Full Text] [Related]
13. Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies.
Reuter MS; Zech M; Hempel M; Altmüller J; Heung T; Pölsler L; Santer R; Thiele H; Trost B; Kubisch C; Scherer SW; Rudnik-Schöneborn S; Bassett AS; Lessel D
Eur J Hum Genet; 2022 May; 30(5):611-618. PubMed ID: 35304602
[TBL] [Abstract][Full Text] [Related]
14. 6p21.33 Deletion encompassing CSNK2B is associated with relative macrocephaly, facial dysmorphism, and mild intellectual disability.
Ohashi I; Kuroda Y; Enomoto Y; Murakami H; Masuno M; Kurosawa K
Clin Dysmorphol; 2021 Jul; 30(3):139-141. PubMed ID: 33758130
[No Abstract] [Full Text] [Related]
15. De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.
Guillen Sacoto MJ; Tchasovnikarova IA; Torti E; Forster C; Andrew EH; Anselm I; Baranano KW; Briere LC; Cohen JS; Craigen WJ; Cytrynbaum C; Ekhilevitch N; Elrick MJ; Fatemi A; Fraser JL; Gallagher RC; Guerin A; Haynes D; High FA; Inglese CN; Kiss C; Koenig MK; Krier J; Lindstrom K; Marble M; Meddaugh H; Moran ES; Morel CF; Mu W; Muller EA; Nance J; Natowicz MR; Numis AL; Ostrem B; Pappas J; Stafstrom CE; Streff H; Sweetser DA; Szybowska M; ; Walker MA; Wang W; Weiss K; Weksberg R; Wheeler PG; Yoon G; Kingston RE; Juusola J
Am J Hum Genet; 2020 Aug; 107(2):352-363. PubMed ID: 32693025
[TBL] [Abstract][Full Text] [Related]
16. Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Rots D; Chater-Diehl E; Dingemans AJM; Goodman SJ; Siu MT; Cytrynbaum C; Choufani S; Hoang N; Walker S; Awamleh Z; Charkow J; Meyn S; Pfundt R; Rinne T; Gardeitchik T; de Vries BBA; Deden AC; Leenders E; Kwint M; Stumpel CTRM; Stevens SJC; Vermeulen JR; van Harssel JVT; Bosch DGM; van Gassen KLI; van Binsbergen E; de Geus CM; Brackel H; Hempel M; Lessel D; Denecke J; Slavotinek A; Strober J; Crunk A; Folk L; Wentzensen IM; Yang H; Zou F; Millan F; Person R; Xie Y; Liu S; Ousager LB; Larsen M; Schultz-Rogers L; Morava E; Klee EW; Berry IR; Campbell J; Lindstrom K; Pruniski B; Neumeyer AM; Radley JA; Phornphutkul C; Schmidt B; Wilson WG; Õunap K; Reinson K; Pajusalu S; van Haeringen A; Ruivenkamp C; Cuperus R; Santos-Simarro F; Palomares-Bralo M; Pacio-Míguez M; Ritter A; Bhoj E; Tønne E; Tveten K; Cappuccio G; Brunetti-Pierri N; Rowe L; Bunn J; Saenz M; Platzer K; Mertens M; Caluseriu O; Nowaczyk MJM; Cohn RD; Kannu P; Alkhunaizi E; Chitayat D; Scherer SW; Brunner HG; Vissers LELM; Kleefstra T; Koolen DA; Weksberg R
Am J Hum Genet; 2021 Jun; 108(6):1053-1068. PubMed ID: 33909990
[TBL] [Abstract][Full Text] [Related]
17. Consolidating the association of biallelic
Maroofian R; Efthymiou S; Suri M; Rahman F; Zaki MS; Maqbool S; Anwa N; Ruiz-Pérez VL; Yanovsky-Dagan S; Elpeleg O; Sudhakar S; Mankad K; Harel T; Houlden H
J Med Genet; 2023 Aug; 60(8):791-796. PubMed ID: 36581449
[TBL] [Abstract][Full Text] [Related]
18. Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation.
Xin B; Puffenberger EG; Turben S; Tan H; Zhou A; Wang H
Proc Natl Acad Sci U S A; 2010 Jan; 107(1):258-63. PubMed ID: 20018682
[TBL] [Abstract][Full Text] [Related]
19. Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism.
Zahra Q; Çakmak Ç; Koprulu M; Shuaib M; Sobreira N; Kalsner L; Sobreira J; Guillen Sacoto MJ; Malik S; Tolun A
J Hum Genet; 2020 Dec; 65(12):1115-1123. PubMed ID: 32737394
[TBL] [Abstract][Full Text] [Related]
20. Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies.
Harel T; Griffin JN; Arbogast T; Monroe TO; Palombo F; Martinelli M; Seri M; Pippucci T; Elpeleg O; Katsanis N
Hum Mol Genet; 2020 Jun; 29(9):1489-1497. PubMed ID: 32307552
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
