OOIR: Observatory of International Research

Papers

(The TQCC of Clinical Dysmorphology is 1. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2021-04-01 to 2025-04-01.)

Article	Citations
Pierpont syndrome due to mutation c.1337A>G in TBL1XR1 gene	7
Greig cephalopolysyndactyly contiguous gene syndrome in a Congolese patient co-occurring with sickle cell anemia, and review of literature	5
KCTD7-related progressive myoclonic epilepsy: report of three Indian families and review of literature	5
Familiar case of a small TBC1D24 and ATP6V0C-containing microdeletion associated with developmental delay, microcephaly, and seizures	4
Report of a novel UBA2 variant causing Aplasia Cutis Congenita with Ectrodactyly syndrome (ACCES) in an Indian family	4
Unexpected clinical features in an individual with Schuurs-Hoeijmakers syndrome	4
TUBB3 R262H in a neonate with ptosis and vocal cord palsy	4
A familial rearrangement resulting in pure duplication of distal 19p13.3	3
Clinico-radiological and biochemical clues to early diagnosis of mucolipidosis type II	3
A sib-pair with Al Kaissi syndrome caused by homozygosity for a novel CDK10 splice variant	3
A novel pathogenic variant in DOCK 7 gene in an infant with dysmorphism, epileptic encephalopathy and cortical blindness	3
A novel homozygous frameshift mutation in the TUSC3 gene identified in siblings with intellectual disability	3
Brain MRI findings in mandibulofacial dysostosis caused by EFTUD2 haploinsufficiency: a case report with polymicrogyria and dysmorphic caudate nuclei	3
A novel variant in WNT5A responsible for Robinow syndrome in a male fetus with limb shortening and agenesis of the penis	3
Multiple Mongolian spots in an individual with Kleefstra syndrome caused by a novel nonsense euchromatin histone methyltransferase 1 variant	3
Clinical characterization of a patient with CNOT2 haploinsufficiency caused by a de novo partial deletion	2
A very rare skeletal dysplasia: spondyloepimetaphyseal dysplasia, sponastrime type	2
Recurrence of ARID1B-related Coffin-Siris Syndrome by possible gonadal mosaicism	2
Novel FREM1 homozygous variant in an individual with an intermediate phenotype between Bifid Nose with or without Anorectal and Renal Anomalies and Manitoba-oculo-tricho-anal syndromes	2
Complex craniofacial cleft and accessory maxilla in oculoauriculofrontonasal syndrome	2
Monoallelic variants in ACVR1 in a cohort of Egyptian individuals with fibrodysplasia ossificans progressiva	2
Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population	2
Translocation t(X;Y) characterized by chromosomal microarray and FISH in a phenotypic male with Microphthalmia and linear skin defects	2
Musculoskeletal abnormalities and a novel genomic variant in an adult patient with CHILD syndrome: a case report.	1
Uniparental disomy as a mechanism for X-linked chondrodysplasia punctata	1

A case of 14q terminal deletion syndrome and hemifacial microsomia with review of terminal 14q deletion cases	1
Coloboma in a family with Tonne-Kalsheuer syndrome: extending the phenotype of RLIM variants	1
Case report of a 21-year-old woman with Gabriele-de Vries syndrome and autoimmune hypothyroidism	1
Unilateral microtia found in association with a de-novo 20q13.33 deletion, is there a causal link?	1
Fragile X syndrome in Democratic Republic of Congo: dysmorphic, cognitive and behavioral findings in 14 subjects from three families	1
Intragenic FOXC1 deletion in a Vietnamese child with Axenfeld–Rieger syndrome: case report and review of literature	1
Neurodevelopmental disorder with microcephaly, ataxia, and seizures syndrome: expansion of the clinical spectrum	1
Restrictive dermopathy due to ZMPSTE24 deficiency	1
Myhre syndrome associated with hyperinsulinism and impaired glucose tolerance: a novel finding	1
A further case of Skraban-Deardorff syndrome and review of the literature	1
Novel variant c.1838A>G, p.(Gln613Arg) in NALCNcauses camptodactyly and cognitive delay	1
Neonatal ichthyosis–sclerosing cholangitis syndrome: report of a novel mutation and a review of the literature	1
First case of Myhre syndrome with schizophrenia	1
Targeted genetic testing approach in a case with characteristic clinical and radiographic findings of Roberts phocomelia syndrome	1
A case of U2AF2-related developmental disorder: long-term follow-up and expansion of the phenotype	1
Homozygosity for a novel DOCK6 variant in an individual without aplasia cutis congenita of the scalp and terminal transverse limb defects	1
MIRAGE syndrome in a 10-year-old girl with a novel Lys1024Glu missense variant in SAMD9	1
Intrafamilial variability and neurological manifestations in two siblings with carbohydrate sulfotransferase 3-related skeletal dysplasia	1
Two novel truncating variants of the ASPM gene identified in a nonconsanguineous Chinese family associated with primary microcephaly	1
Hashitoxicosis in a patient with Nicolaides-Baraitser Syndrome: a case report	1
The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patients	1
Two siblings with GAPO syndrome: a novel missense variant in ANTXR1	1
Sudden infant death in a neonate with X-linked intellectual disability type Nascimento because of UBE2A deletion	1
A de novo missense variant Ser219Pro in PPP2R1A leads to macrocephaly in Houge–Janssens syndrome type 2	1
Dual diagnosis of microcephalic osteosplastic primary dwarfism type II and benign familial infantile seizure type 2: a case report	1
Inherited loss of function variant in CSNK2A1: the oldest reported cases of Okur–Chung syndrome in a single family	1
3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum	1
Novel intronic JAG1 variant associated with Alagille syndrome in a three-generation Lebanese family with variable features	1