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 2021-06-01 to 2025-06-01.)

Article	Citations
Report of a novel UBA2 variant causing Aplasia Cutis Congenita with Ectrodactyly syndrome (ACCES) in an Indian family	7
Complex craniofacial cleft and accessory maxilla in oculoauriculofrontonasal syndrome	7
Restrictive dermopathy due to ZMPSTE24 deficiency	5
Dual genetic diagnosis of Mitchell–Riley syndrome and Temple syndrome in a neonate	5
Neonatal ichthyosis–sclerosing cholangitis syndrome: report of a novel mutation and a review of the literature	5
Fragile X syndrome in Democratic Republic of Congo: dysmorphic, cognitive and behavioral findings in 14 subjects from three families	5
Immune dysregulation in a dysmorphic child with 6q23.3 deletion: a single case report	4
Clinical and molecular characterization of Costello syndrome in unrelated Mexican patients	4
Cerebellar infarction due to atlantoaxial subluxation in spondyloepimetaphyseal dysplasia-joint laxity type 1 case	4
A triple molecular diagnosis in a Turkish individual with hypotrichosis, deafness, and diabetes	4
Nitrogen Permease Regulator Like-2 (NPRL2) truncating mutation causes Ohtahara syndrome with incomplete penetrance: expanding the genotype-phenotype correlations	3
Unexpected clinical features in an individual with Schuurs-Hoeijmakers syndrome	3
Extended analysis of exome sequencing data reveals a novel homozygous deletion of exons 3 and 4 in FUCA1 gene causing fucosidosis in an Indian family	3
Two novel variants and follow-up findings in four children with Bloom syndrome from two families	3
Pierpont syndrome due to mutation c.1337A>G in TBL1XR1 gene	3
Report of an Asian–Indian patient with Okur–Chung Syndrome and comparison of the clinical phenotype in different ethnic groups	3
A new case of SUPT16H-associated syndromic neurodevelopmental delay	3
Exploring the phenotypic spectrum of the YARS1 p.(Arg367Trp) variant – first European family and literature review	3
A case report of Hennekam syndrome with a mutation in the CCBE1 gene	2
Brain MRI findings in mandibulofacial dysostosis caused by EFTUD2 haploinsufficiency: a case report with polymicrogyria and dysmorphic caudate nuclei	2
Dual diagnosis of microcephalic osteosplastic primary dwarfism type II and benign familial infantile seizure type 2: a case report	2
Novel antenatal presentation of cystic hygroma in a case of Koolen–de Vries syndrome	2
Bloom syndrome in children: unusual case of early onset lung damage	2
Familiar case of a small TBC1D24 and ATP6V0C-containing microdeletion associated with developmental delay, microcephaly, and seizures	2
Functionalisation of de-novo synonymous variant in TCF4 associated with Pitt-Hopkins syndrome: a case report and review of literature	2

Novel variant in the KAT6B gene associated with Say Barber Biesecker Young Simpson	2
DEGS1-related leukodystrophy: a clinical report and review of literature	2
TUBB3 R262H in a neonate with ptosis and vocal cord palsy	2
Further evidence of biallelic variants in KCNK18 as a cause of intellectual disability and epilepsy with febrile seizure plus	2
Scalp-Ear-Nipple syndrome: first report of a Potassium channel tetramerization domain-containing 1 in-frame insertion and review of the literature	2
Novel and recurrent variants in PAX6 in four patients with ocular phenotypes from Southeast Asia	1
The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patients	1
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	1
Triplication at 5q23.1 to 31.1 including LMNB1 in a patient with dilated cardiomyopathy, scoliosis and joint contractures	1
Variants of the GNAI1 gene manifest as Prader–Willi-like syndrome: Case report with literature review	1
Clinical and neuroimaging variability in two siblings with a novel PCDH12 variant: a case report	1
Thirteen Indians with camptodactyly-arthropathy-coxa vara-pericarditis syndrome	1
Hashitoxicosis in a patient with Nicolaides-Baraitser Syndrome: a case report	1
A familial rearrangement resulting in pure duplication of distal 19p13.3	1
Fetal methotrexate syndrome following an unsuccessful medication abortion – a rare syndrome posed to become more common	1
A novel ACTB variant in an atypical case of Baraitser-Winter syndrome with cerebellar hypoplasia and diaphragmatic hernia	1
Novel intronic JAG1 variant associated with Alagille syndrome in a three-generation Lebanese family with variable features	1
Aphallia in a neonate with VACTERL malformation: report of a rare association	1
Multiple Mongolian spots in an individual with Kleefstra syndrome caused by a novel nonsense euchromatin histone methyltransferase 1 variant	1
First case of Myhre syndrome with schizophrenia	1
Report of a novel recurrent homozygous variant c.620A>T in three unrelated families with thiamine metabolism dysfunction syndrome 5 and review of literature	1
Coloboma in a family with Tonne-Kalsheuer syndrome: extending the phenotype of RLIM variants	1
Inherited loss of function variant in CSNK2A1: the oldest reported cases of Okur–Chung syndrome in a single family	1
The likelihood of detecting abnormal karyotypes in fetuses with a single major anomaly or “soft” marker on ultrasonographic scanning	1
MIRAGE syndrome in a 10-year-old girl with a novel Lys1024Glu missense variant in SAMD9	1
X-Autosome translocations: X-inactivation and effect on phenotype	1
Autosomal recessive EXT2 syndrome - extending the phenotypic spectrum of an emerging condition, a further case?	1
Genotype–phenotype characteristics of 57 patients with Prader–Willi syndrome: a single-center experience from Turkey	1
Waardenburg syndrome type 1: a case report of a family with a intragenic PAX3 deletion with no hearing loss or heterochromia of iris	1
A de novo missense variant Ser219Pro in PPP2R1A leads to macrocephaly in Houge–Janssens syndrome type 2	1
Two new cases of nonepileptic neurodevelopmental disorder due to GRIN2B variants and detailed clinical description of the behavioral phenotype	1
A de novo pathogenic variant in neuronal differentiation factor 2 in a Chinese patient with early infantile epileptic encephalopathy	1
Nephrocalcinosis, distal renal tubular acidosis and skeletal abnormality in two siblings with ROGDI-related Kohlschütter-Tönz syndrome	1
A challenging diagnosis of the PIK3CA-related overgrowth spectrum	1
A sib-pair with Al Kaissi syndrome caused by homozygosity for a novel CDK10 splice variant	1
Silver-Russell syndrome-like features in a child with recombinant chromosome 11 derived from maternal pericentric inversion	1
A case of U2AF2-related developmental disorder: long-term follow-up and expansion of the phenotype	1
A de-novo loss-of-function variant of SMC1A gene in a girl with epilepsy and neurodevelopmental delay	1
Angelman syndrome with a 15q11q13 deletion in a mother and daughter	1