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 2021-03-01 to 2025-03-01.)

Article	Citations
Pierpont syndrome due to mutation c.1337A>G in TBL1XR1 gene	5
KCTD7-related progressive myoclonic epilepsy: report of three Indian families and review of literature	5
Second reported individual with a partial STAG2 deletion: middle interhemispheric variant holoprosencephaly in STAG2-related cohesinopathy	4
Unexpected clinical features in an individual with Schuurs-Hoeijmakers syndrome	4
A novel pathogenic variant in DOCK 7 gene in an infant with dysmorphism, epileptic encephalopathy and cortical blindness	4
Greig cephalopolysyndactyly contiguous gene syndrome in a Congolese patient co-occurring with sickle cell anemia, and review of literature	4
A familial rearrangement resulting in pure duplication of distal 19p13.3	4
A novel variant in WNT5A responsible for Robinow syndrome in a male fetus with limb shortening and agenesis of the penis	3
A very rare skeletal dysplasia: spondyloepimetaphyseal dysplasia, sponastrime type	3
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	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
Multiple Mongolian spots in an individual with Kleefstra syndrome caused by a novel nonsense euchromatin histone methyltransferase 1 variant	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
Clinical characterization of a patient with CNOT2 haploinsufficiency caused by a de novo partial deletion	3
Recurrence of ARID1B-related Coffin-Siris Syndrome by possible gonadal mosaicism	2
Myhre syndrome associated with hyperinsulinism and impaired glucose tolerance: a novel finding	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
A case of 14q terminal deletion syndrome and hemifacial microsomia with review of terminal 14q deletion cases	2
Complex craniofacial cleft and accessory maxilla in oculoauriculofrontonasal syndrome	2
A further case of Skraban-Deardorff syndrome and review of the literature	2
Restrictive dermopathy due to ZMPSTE24 deficiency	1
Dual diagnosis of microcephalic osteosplastic primary dwarfism type II and benign familial infantile seizure type 2: a case report	1

First case of Myhre syndrome with schizophrenia	1
Functionalisation of de-novo synonymous variant in TCF4 associated with Pitt-Hopkins syndrome: a case report and review of literature	1
Coloboma in a family with Tonne-Kalsheuer syndrome: extending the phenotype of RLIM variants	1
Intragenic FOXC1 deletion in a Vietnamese child with Axenfeld–Rieger syndrome: case report and review of literature	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
Neurodevelopmental disorder with microcephaly, ataxia, and seizures syndrome: expansion of the clinical spectrum	1
Uniparental disomy as a mechanism for X-linked chondrodysplasia punctata	1
Homozygosity for a novel DOCK6 variant in an individual without aplasia cutis congenita of the scalp and terminal transverse limb defects	1
A case of U2AF2-related developmental disorder: long-term follow-up and expansion of the phenotype	1
Inherited loss of function variant in CSNK2A1: the oldest reported cases of Okur–Chung syndrome in a single family	1
Case report of a 21-year-old woman with Gabriele-de Vries syndrome and autoimmune hypothyroidism	1
Clinical and molecular characterization of Costello syndrome in unrelated Mexican patients	1
Unilateral microtia found in association with a de-novo 20q13.33 deletion, is there a causal link?	1
Intrafamilial variability and neurological manifestations in two siblings with carbohydrate sulfotransferase 3-related skeletal dysplasia	1
Novel intronic JAG1 variant associated with Alagille syndrome in a three-generation Lebanese family with variable features	1
Musculoskeletal abnormalities and a novel genomic variant in an adult patient with CHILD syndrome: a case report.	1
Neonatal ichthyosis–sclerosing cholangitis syndrome: report of a novel mutation and a review of the literature	1
Novel variant in the KAT6B gene associated with Say Barber Biesecker Young Simpson	1
Fragile X syndrome in Democratic Republic of Congo: dysmorphic, cognitive and behavioral findings in 14 subjects from three families	1
Targeted genetic testing approach in a case with characteristic clinical and radiographic findings of Roberts phocomelia syndrome	1
Interstitial 3p25.3 deletion syndrome: 13 years’-long follow-up of an affected individual	1
Another case of nuclear speckleopathy due to a novel NKAP pathogenic variant	1
MIRAGE syndrome in a 10-year-old girl with a novel Lys1024Glu missense variant in SAMD9	1
3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum	1
Novel variant c.1838A>G, p.(Gln613Arg) in NALCNcauses camptodactyly and cognitive delay	1
Two novel truncating variants of the ASPM gene identified in a nonconsanguineous Chinese family associated with primary microcephaly	1