1 |
HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.
61
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Reichert SC...Lewandowski R
|
32335897 |
2020 |
2 |
A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disability.
61
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Hamdan N...Chouery E
|
32578875 |
2020 |
3 |
ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.
61
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Yates TM...Balasubramanian M
|
32097528 |
2020 |
4 |
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features.
61
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Lehalle D...Faivre L
|
32409512 |
2020 |
5 |
A novel missense variant in GPT2 causes non-syndromic autosomal recessive intellectual disability in a consanguineous Iranian family.
61
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Binaafar S...Garshasbi M
|
31978613 |
2020 |
6 |
Non-syndromic X linked intellectual disability: Current knowledge in light of the recent advances in molecular and functional studies.
61
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Tejada MI...Ibarluzea N
|
31898314 |
2020 |
7 |
De Novo ARID1B mutations cause growth delay associated with aberrant Wnt/β-catenin signaling.
61
|
Liu X...Yu Y
|
31981384 |
2020 |
8 |
A case report of familial 4q13.3 microdeletion in three individuals with syndromic intellectual disability.
61
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Maldziene Z...Preiksaitiene E
|
32299451 |
2020 |
9 |
Exons deletion of CNKSR2 gene identified in X-linked syndromic intellectual disability.
61
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Daoqi M...Shiyue M
|
32245427 |
2020 |
10 |
The complete loss of function of the SMS gene results in a severe form of Snyder-Robinson syndrome.
61
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Larcher L...Whalen S
|
31580924 |
2020 |
11 |
Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature.
61
|
Assoum M...Faivre L
|
31953988 |
2020 |
12 |
A Novel de novo KIF1A Mutation in a Patient with Autism, Hyperactivity, Epilepsy, Sensory Disturbance, and Spastic Paraplegia.
61
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Kurihara M...Tsuji S
|
31813911 |
2020 |
13 |
Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability.
61
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Li L...Yang XJ
|
31794431 |
2020 |
14 |
[First Spanish case of syndromic intellectual disability with dysmorphic facies, seizures, and distal limb anomalies caused by balletic mutations in the OTUD6B gene].
61
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Sanchez-Soler MJ...Guillen-Navarro E
|
31147255 |
2020 |
15 |
Autosomal dominant inheritance in a recently described ZMIZ1-related neurodevelopmental disorder: Case report of siblings and an affected parent.
61
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Latchman K...Tekin M
|
31833199 |
2020 |
16 |
Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum.
61
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Urreizti R...Balcells S
|
32041641 |
2020 |
17 |
Comparative Genomic Mapping Implicates LRRK2 for Intellectual Disability and Autism at 12q12, and HDHD1, as Well as PNPLA4, for X-Linked Intellectual Disability at Xp22.31.
61
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Labonne JDJ...Kim HG
|
31963867 |
2020 |
18 |
MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype.
61
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Giliberti A...Mari F
|
30735726 |
2020 |
19 |
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
61
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Van Bergen NJ...Christodoulou J
|
31794024 |
2020 |
20 |
Intellectual Disability, Falls and Gait Disturbances: A Misdiagnosis.
61
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Lorenzo Villalba N...Zulfiqar AA
|
32206646 |
2020 |
21 |
Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer.
61
|
Yan K...Yang XJ
|
32010779 |
2020 |
22 |
Novel Missense Variants in ADAT3 as a Cause of Syndromic Intellectual Disability.
61
|
Thomas E...Scott DA
|
31687266 |
2019 |
23 |
Linkage and exome analysis implicate multiple genes in non-syndromic intellectual disability in a large Swedish family.
61
|
Lindholm Carlstrom E...Feuk L
|
31694657 |
2019 |
24 |
A genome-wide DNA methylation signature for SETD1B-related syndrome.
61
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Krzyzewska IM...Mannens MMAM
|
31685013 |
2019 |
25 |
Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants.
61
|
Lecoquierre F...Thauvin-Robinet C
|
31036916 |
2019 |
26 |
A novel homozygous KCNQ3 loss-of-function variant causes non-syndromic intellectual disability and neonatal-onset pharmacodependent epilepsy.
61
|
Lauritano A...Taglialatela M
|
31440727 |
2019 |
27 |
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females.
61
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Scala M...Capra V
|
30936465 |
2019 |
28 |
Subtelomeric Rearrangements: Presentation of 21 Probands with Emphasis on Familial Cases.
61
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Soares AR...Fortuna AM
|
31445533 |
2019 |
29 |
Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females.
61
|
Jackson MR...Shoubridge C
|
31439632 |
2019 |
30 |
Homozygous variants in the gene SCAPER cause syndromic intellectual disability.
61
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Kahrizi K...Winter J
|
31069901 |
2019 |
31 |
Expanding the genetic and clinical spectrum of the NONO-associated X-linked intellectual disability syndrome.
61
|
Carlston CM...Botto LD
|
30773818 |
2019 |
32 |
Female-restricted syndromic intellectual disability in a patient from Thailand.
61
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Sinthuwiwat T...Shotelersuk V
|
30828969 |
2019 |
33 |
Syndromic Intellectual Disability Caused by a Novel Truncating Variant in AHDC1: A Case Report.
61
|
Diaz-Ordonez L...Pachajoa H
|
31182893 |
2019 |
34 |
De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability.
61
|
Nicola P...Clayton-Smith J
|
30734472 |
2019 |
35 |
Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures.
61
|
Nakashima M...Matsumoto N
|
30655572 |
2019 |
36 |
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
61
|
Cogne B...Campeau PM
|
30827496 |
2019 |
37 |
The novel de novo mutation of KIF1A gene as the cause for Spastic paraplegia 30 in a Japanese case.
61
|
Yoshikawa K...Kusunoki S
|
30582020 |
2019 |
38 |
LIMK2-1 is a Hominidae-Specific Isoform of LIMK2 Expressed in Central Nervous System and Associated with Intellectual Disability.
61
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Tastet J...Benedetti H
|
30594563 |
2019 |
39 |
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
61
|
Reynhout S...Vissers LELM
|
30735662 |
2019 |
40 |
A novel CUL4B splice site variant in a young male exhibiting less pronounced features.
61
|
Nakamura Y...Saitoh S
|
31645981 |
2019 |
41 |
CDK13-related disorder.
61
|
Hamilton MJ...Suri M
|
30904094 |
2019 |
42 |
Mutations of ARX and non-syndromic intellectual disability in Chinese population.
61
|
Wu Y...Gao X
|
30255221 |
2019 |
43 |
Novel Compound Heterozygous Mutations in TTI2 Cause Syndromic Intellectual Disability in a Chinese Family.
61
|
Wang R...Zhang X
|
31737043 |
2019 |
44 |
A De Novo Mutation in DYRK1A Causes Syndromic Intellectual Disability: A Chinese Case Report.
61
|
Qiao F...Xu Z
|
31803247 |
2019 |
45 |
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
61
|
Reynhout S...Vissers LELM
|
30595372 |
2019 |
46 |
A cross sectional study to evaluate the oral health status of children with intellectual disabilities in the National Capital Region of India (Delhi-NCR).
61
|
Makkar A...Sheoran N
|
30338591 |
2019 |
47 |
Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
61
|
Kim HG...Kim CH
|
31649809 |
2019 |
48 |
A patient-specific induced pluripotent stem cell model for West syndrome caused by ST3GAL3 deficiency.
61
|
van Diepen L...Kuss AW
|
30089820 |
2018 |
49 |
Novel MEF2C point mutations in Chinese patients with Rett (-like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation.
61
|
Wang J...Wen Y
|
30376817 |
2018 |
50 |
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.
61
|
Santos-Cortez RLP...Leal SM
|
30167849 |
2018 |