| 1 |
Bi-allelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects.
61
|
Beecroft SJ...Ravenscroft G
|
33565183 |
2021 |
| 2 |
Expanding the phenotype of STRA6-related disorder to include left ventricular non-compaction.
61
|
Sun H...He Y
|
32597569 |
2020 |
| 3 |
CUGC for syndromic microphthalmia including next-generation sequencing-based approaches.
61
|
Eintracht J...Moosajee M
|
31896778 |
2020 |
| 4 |
The relevance of the cytogenetic analysis in syndromic microphthalmia/anophthalmia.
61
|
Apam-Garduno D...Villanueva-Mendoza C
|
31809626 |
2019 |
| 5 |
Syndromic chorioretinal coloboma associated with heterozygous de novo RARA mutation affecting an amino acid critical for retinoic acid interaction.
61
|
Jakubiuk-Tomaszuk A...Ploski R
|
31343737 |
2019 |
| 6 |
Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases.
61
|
Blackburn PR...Babovic-Vuksanovic D
|
31053785 |
2019 |
| 7 |
NAA10 polyadenylation signal variants cause syndromic microphthalmia.
61
|
Johnston JJ...Biesecker LG
|
30842225 |
2019 |
| 8 |
Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment.
61
|
Catania A...Ghezzi D
|
30773800 |
2019 |
| 9 |
Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu.
61
|
Kraus C...Zweier C
|
30450806 |
2018 |
| 10 |
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.
61
|
Du R...Uyguner ZO
|
30046887 |
2018 |
| 11 |
Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2.
61
|
Somashekar PH...Girisha KM
|
28388256 |
2017 |
| 12 |
Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches.
61
|
Richardson R...Moosajee M
|
28098148 |
2017 |
| 13 |
Syndromic microphthalmia-3 caused by a mutation on gene SOX2 in a Colombian male patient.
61
|
Ramirez-Botero AF...Pachajoa H
|
27206652 |
2016 |
| 14 |
Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia.
61
|
Brady PD...Vermeesch JR
|
25026905 |
2015 |
| 15 |
Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome.
61
|
Suzumori N...Sugiura-Ogasawara M
|
23815237 |
2013 |
| 16 |
Whole-genome copy number variation analysis in anophthalmia and microphthalmia.
61
|
Schilter KF...Semina EV
|
23701296 |
2013 |
| 17 |
A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family.
61
|
Ng WY...Jamieson RV
|
22283518 |
2013 |
| 18 |
Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes.
61
|
Bardakjian TM...Biesecker LG
|
20003547 |
2009 |
| 19 |
Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar.
61
|
Faiyaz-Ul-Haque M...Teebi AS
|
17661825 |
2007 |
| 20 |
CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds.
61
|
Bar-Yosef U...Birk OS
|
15257456 |
2004 |
| 21 |
Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder?
61
|
Ng D...Biesecker LG
|
12116202 |
2002 |
| 22 |
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10.
61
|
Ferda Percin E...McInnes RR
|
10932181 |
2000 |
