OOIR: Observatory of International Research

Papers

(The median citation count of Clinical Dysmorphology is 0. 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 2022-08-01 to 2026-08-01.)

Article	Citations
Complex craniofacial cleft and accessory maxilla in oculoauriculofrontonasal syndrome	13
Report of a novel UBA2 variant causing Aplasia Cutis Congenita with Ectrodactyly syndrome (ACCES) in an Indian family	7
Craniosynostosis in craniometaphyseal dysplasia: an expansion of phenotype	6
Fragile X syndrome in Democratic Republic of Congo: dysmorphic, cognitive and behavioral findings in 14 subjects from three families	5
Restrictive dermopathy due to ZMPSTE24 deficiency	5
Dual genetic diagnosis of Mitchell–Riley syndrome and Temple syndrome in a neonate	5
Novel ROBO3 variants in two families with horizontal gaze palsy with progressive scoliosis: clinical characterization and brief literature overview of 14 reported families	4
A triple molecular diagnosis in a Turkish individual with hypotrichosis, deafness, and diabetes	4
Neonatal ichthyosis–sclerosing cholangitis syndrome: report of a novel mutation and a review of the literature	4
Primrose syndrome with a novel ZBTB20 variant with congenital glaucoma and hydrocephalus	4
A new case of SUPT16H-associated syndromic neurodevelopmental delay	3
Management of a four-generation family affected by GDF6 multiple synostoses syndrome type 4	3
Novel homozygous GCH1 variant causes tetrahydrobiopterin-deficient hyperphenylalaninemia	3
Cerebellar infarction due to atlantoaxial subluxation in spondyloepimetaphyseal dysplasia-joint laxity type 1 case	3
Exploring the phenotypic spectrum of the YARS1 p.(Arg367Trp) variant – first European family and literature review	3
Immune dysregulation in a dysmorphic child with 6q23.3 deletion: a single case report	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
Amnioreduction as a therapeutic strategy for MAGED2-related Bartter syndrome: prolonging gestation and improving outcomes through genetic-guided prenatal management	3
Clinical spectrum of acyl-CoA synthetase family member 3-related combined malonic and methylmalonic aciduria: insights from four cases	2
A de-novo frameshift variant in ZFHX4 associated with a recognisable neurodevelopmental disorder: a case report	2
Novel variant in the KAT6B gene associated with Say Barber Biesecker Young Simpson	2
Further evidence of biallelic variants in KCNK18 as a cause of intellectual disability and epilepsy with febrile seizure plus	2
TUBB3 R262H in a neonate with ptosis and vocal cord palsy	2
Recurrent herpes labialis in a patient with interferon regulatory factor 3 deletion: a novel case report	2
Dual diagnosis of microcephalic osteosplastic primary dwarfism type II and benign familial infantile seizure type 2: a case report	2

A case report of Hennekam syndrome with a mutation in the CCBE1 gene	2
A case of DYNC2H1-related skeletal ciliopathy: consider comprehensive reanalysis and uncommon, usually filtered variants	2
Familiar case of a small TBC1D24 and ATP6V0C-containing microdeletion associated with developmental delay, microcephaly, and seizures	2
Unexpected clinical features in an individual with Schuurs-Hoeijmakers syndrome	2
Functionalisation of de-novo synonymous variant in TCF4 associated with Pitt-Hopkins syndrome: a case report and review of literature	2
Pediatric epilepsy: a dual diagnosis of SCMARCA2-Nicolaides–Baraitser syndrome and CHRNB2-nocturnal-frontal-lobe epilepsy	2
Fetal methotrexate syndrome following an unsuccessful medication abortion – a rare syndrome posed to become more common	1
Expanding the phenotypic spectrum of neurodevelopmental disorder with seizures and gingival overgrowth: a case caused by a novel TBC1D2B variant, with hypertrichosis, white matter abnormalities, and p	1
Bloom syndrome in children: unusual case of early onset lung damage	1
A rare RASopathy: Noonan syndrome-like disorder with loose anagen hair caused by a protein phosphatase 1 catalytic subunit beta pathogenic variant	1
A de-novo loss-of-function variant of SMC1A gene in a girl with epilepsy and neurodevelopmental delay	1
Inherited loss of function variant in CSNK2A1: the oldest reported cases of Okur–Chung syndrome in a single family	1
Thirteen Indians with camptodactyly-arthropathy-coxa vara-pericarditis syndrome	1
A case of U2AF2-related developmental disorder: long-term follow-up and expansion of the phenotype	1
MIRAGE syndrome in a 10-year-old girl with a novel Lys1024Glu missense variant in SAMD9	1
Novel intronic JAG1 variant associated with Alagille syndrome in a three-generation Lebanese family with variable features	1
A familial rearrangement resulting in pure duplication of distal 19p13.3	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 new case of rhabdomyosarcoma in a patient with Mowat-Wilson syndrome	1
A novel ACTB variant in an atypical case of Baraitser-Winter syndrome with cerebellar hypoplasia and diaphragmatic hernia	1
Oculoskeletodental syndrome: expansion and review of the clinical and molecular phenotype	1
Recurrent RAC3 related neuro-rachopathy in a pair of Indian siblings with novel findings: expanding the spectrum of brain anomalies	1
Coloboma in a family with Tonne-Kalsheuer syndrome: extending the phenotype of RLIM variants	1
Familial SIN3A-associated Witteveen–Kolk syndrome in a Chinese family with prominent ectodermal dysplasia, progeroid appearance, and early onset diabetes mellitus	1
A case of serpentine fibula-polycystic kidney syndrome presenting with foetal limb shortening: a disorder of foetal osteogenesis and part of the phenotypic spectrum of Hajdu–Cheney syndrome	1
The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patients	1
Hashitoxicosis in a patient with Nicolaides-Baraitser Syndrome: a case report	1
Novel ABCA12 frameshift variant in a preterm infant with harlequin ichthyosis	1
Genotype–phenotype characteristics of 57 patients with Prader–Willi syndrome: a single-center experience from Turkey	1
Novel and recurrent variants in PAX6 in four patients with ocular phenotypes from Southeast Asia	1
DEGS1-related leukodystrophy: a clinical report and review of literature	1
A sib-pair with Al Kaissi syndrome caused by homozygosity for a novel CDK10 splice variant	1
A de novo missense variant Ser219Pro in PPP2R1A leads to macrocephaly in Houge–Janssens syndrome type 2	1
Clinical and neuroimaging variability in two siblings with a novel PCDH12 variant: a case report	1
The likelihood of detecting abnormal karyotypes in fetuses with a single major anomaly or “soft” marker on ultrasonographic scanning	1
A challenging diagnosis of the PIK3CA-related overgrowth spectrum	1
USP18 gene mutation associated with recurrent encephalopathy, intracranial calcification, and microcephaly: case report, long-term follow-up, and literature review	1
Case report of three siblings with nudix hydrolase 2-related neurodevelopmental disorder	1
Autosomal recessive renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations	0
A de novo pathogenic variant in neuronal differentiation factor 2 in a Chinese patient with early infantile epileptic encephalopathy	0
Comprehensive phenotyping of fetuses with trisomy 18: a perinatal center experience	0
Expanding the clinical spectrum of NHP2-related dyskeratosis congenita: a case with novel phenotypic features	0
Greig cephalopolysyndactyly contiguous gene syndrome in a Congolese patient co-occurring with sickle cell anemia, and review of literature	0
Prenatal and postnatal findings in cerebellofaciodental syndrome: a rare genetic disorder	0
EBF3-related neurodevelopment disorder affecting an individual of Singaporean Arab and Malay origin: case report and review of the literature	0
Intragenic FOXC1 deletion in a Vietnamese child with Axenfeld–Rieger syndrome: case report and review of literature	0
Two novel CSNK2A1 variants associated with mild Okur-Chung neurodevelopmental syndrome phenotype	0
Exploring ATP6V1B2-related disorders: a case report-based literature review	0
A 17-month-old girl with fetal valproate syndrome and ocular coloboma	0
Prenatal presentation and diagnosis of a case of fetal varicella syndrome	0

Recurrence of ARID1B-related Coffin-Siris Syndrome by possible gonadal mosaicism	0
Silver-Russell syndrome-like features in a child with recombinant chromosome 11 derived from maternal pericentric inversion	0
Case of de-novo variant in CDH2 with novel findings: a case report and review of literature	0
Lateral nasal proboscis associated with nasal glioma: a complex unilateral craniofacial malformation	0
A novel case of Al Kaissi syndrome in a 4-year-old boy: increasing significance of hydrocephalus and extending the phenotype	0
Moyamoya disease/cerebral vasculopathy in osteopathia striata with cranial sclerosis: a rare but important complication	0
STAG1 developmental disorder associated with acute lymphoblastic leukaemia: a case report	0
Homozygous intragenic deletion of breast carcinoma–amplified sequence 3 in Hengel–Maroofian–Schols syndrome: expanding the clinical and molecular spectrum	0
Identification of a novel mutation in metabotropic glutamate receptor 1 causing autosomal recessive spinocerebellar ataxia-13 in a Pakistani family	0
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	0
A case with a de novo chromosome 8.9 Mb 11pter duplication and 6.4 Mb 11qter deletion derived from a father with a normal karyotype	0
Coexistence of spinocerebellar ataxia autosomal recessive type 21 and Ehlers-Danlos syndrome spondylodysplastic type 3 in a patient	0
Intrafamilial variability and neurological manifestations in two siblings with carbohydrate sulfotransferase 3-related skeletal dysplasia	0
A male infant with a novel heterogeneous nuclear ribonucleoprotein H1 variant, bilateral cataracts, dysplastic thumbs, and severe airway malacia	0
Multiple Mongolian spots in an individual with Kleefstra syndrome caused by a novel nonsense euchromatin histone methyltransferase 1 variant	0
Two siblings with GAPO syndrome: a novel missense variant in ANTXR1	0
MSMO1 deficiency: a potentially partially treatable, ultrarare neurodevelopmental disorder with psoriasiform dermatitis, alopecia and polydactyly	0
PLS3 whole gene deletion as a cause of X-linked osteoporosis: Clinical report with review of published PLS3 literature	0
Interstitial 3p25.3 deletion syndrome: 13 years’-long follow-up of an affected individual	0
Sudden infant death in a neonate with X-linked intellectual disability type Nascimento because of UBE2A deletion	0
Traboulsi syndrome involving aortopathy: further evidence of the phenotypic overlap with Marfan syndrome	0
Kohlschutter-Tonz syndrome (amelo-cerebro-hypohidrotic syndrome) in an Indian family with a novel ROGD1 mutation	0
An unexpected clinical presentation in periodontal Ehler-Danlos syndrome: preterm birth, profound intellectual disability and self-injurious behavior	0
Homozygosity for a novel DOCK6 variant in an individual without aplasia cutis congenita of the scalp and terminal transverse limb defects	0
A case of 14q terminal deletion syndrome and hemifacial microsomia with review of terminal 14q deletion cases	0
A rare case of mosaic monosomy 21 in a Moroccan patient: clinical findings and insights from a systematic review	0
Novel guanosine diphosphate-mannose pyrophosphorylase A variant in an individual with achalasia, alacrima, and intellectual disability	0
Congenital microcephaly with subtle craniofacial dysmorphism because of a novel homozygous asparagine synthetase variant	0
Nephrocalcinosis, distal renal tubular acidosis and skeletal abnormality in two siblings with ROGDI-related Kohlschütter-Tönz syndrome	0
Extending the phenotype of Shashi–Pena syndrome: a case report and review of literature	0
Endocrine-predominant type 2 Woodhouse–Sakati syndrome caused by a novel homozygous DCAF17 variant	0
Clinical, genetic, and electron microscopy of hair findings in a patient with CDH3-related hypotrichosis with juvenile macular dystrophy	0
Report of a novel recurrent homozygous variant c.620A>T in three unrelated families with thiamine metabolism dysfunction syndrome 5 and review of literature	0
Recurrent platelet-derived growth factor receptor beta gene mutations in Kosaki overgrowth syndrome: a molecular and clinical overview	0
Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature	0
The dysmorphic phenotype in vascular Ehlers Danlos syndrome	0
First case report of STAG2-associated syndromic disorder resulting from partial exon deletion inherited from asymptomatic mosaic carrier mother	0
Novel cardiac findings in a patient with ASPM-related primary microcephaly	0
A girl with a de novo PPP2R5D W207R pathogenic variant was also born with an occipital encephalocele	0
Monoallelic variants in ACVR1 in a cohort of Egyptian individuals with fibrodysplasia ossificans progressiva	0
Long-term outcome of a cohort of Italian patients affected with alpha-Mannosidosis	0
Integrating Face2Gene analysis in the diagnosis of Van den Ende-Gupta syndrome caused by a novel SCARF2 mutation with expanded skeletal and cardiac features	0
Binder phenotype with palatal epulis in a girl with chromosome 5 duplication	0
Another case of nuclear speckleopathy due to a novel NKAP pathogenic variant	0
Clinical characterization of a patient with CNOT2 haploinsufficiency caused by a de novo partial deletion	0
Meier–Gorlin syndrome type 7: a rare cause of primordial dwarfism: two new cases and literature review	0
To B(enign) or Not to B: functionalisation of variant in a mild form of argininosuccinate lyase deficiency identified through newborn screening	0
Unilateral microtia found in association with a de-novo 20q13.33 deletion, is there a causal link?	0
Biallelic variants in AGRN in a family with recurrent pregnancy losses and fetal akinesia deformation sequence	0
Case report of a 21-year-old woman with Gabriele-de Vries syndrome and autoimmune hypothyroidism	0
3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum	0
A previous clinical diagnosis of Ullrich–Feichtiger syndrome is molecularly defined as Townes–Brocks syndrome	0
LPIN2-related Majeed syndrome: report of two Indian patients with novel variants in LPIN2 and review of literature	0
Aphallia in a neonate with VACTERL malformation: report of a rare association	0
Identification of a novel IQCE variant in a Korean patient with nonsyndromic postaxial polydactyly	0
Novel, homozygous RAB3GAP1 c.2606 + 1G>A, p.Glu830ValfsTer9 variant and chromosome 3q29 duplication in a Turkish individual with Warburg micro syndrome	0
Rafiq syndrome in a Saudi patient: novel homozygous MAN1B1 variant (c.1118C>G; p.Pro373Arg) and expanded phenotypic spectrum	0
Autosomal recessive otospondylo-mega-epiphyseal dysplasia: comprehensive clinical review of a pediatric cohort	0
Variants of the GNAI1 gene manifest as Prader–Willi-like syndrome: Case report with literature review	0
Clinical and molecular study of Egyptian patients with Treacher Collins syndrome	0
Fontaine progeroid syndrome into early adolescence: a case report	0
Additional case report supports loss-of-function CCNK variants being causative for a recognizable syndromic neurodevelopmental disorder	0
Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population	0
Dilated aorta in CNOT3-related neurodevelopmental disorder: ‘expanding’ the phenotype	0
Translocation t(X;Y) characterized by chromosomal microarray and FISH in a phenotypic male with Microphthalmia and linear skin defects	0
Targeted genetic testing approach in a case with characteristic clinical and radiographic findings of Roberts phocomelia syndrome	0
A novel homozygous deletion in CCDC32 gene causing cardiofacioneurodevelopmental syndrome: the fourth patient reported	0
Observed total and live birth prevalence of Wolf–Hirschhorn syndrome in England 2015–2020	0