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 2020-11-01 to 2024-11-01.)

Article	Citations
Biallelic DNAJC3 variants in a neuroendocrine developmental disorder with insulin dysregulation	5
KCTD7-related progressive myoclonic epilepsy: report of three Indian families and review of literature	5
Pierpont syndrome due to mutation c.1337A>G in TBL1XR1 gene	4
Distal arthrogryposis type 5D in a South Indian family caused by novel deletion in ECEL1 gene	4
6p21.33 Deletion encompassing CSNK2B is associated with relative macrocephaly, facial dysmorphism, and mild intellectual disability	4
DEGS1-related leukodystrophy: a clinical report and review of literature	4
A sib-pair with Al Kaissi syndrome caused by homozygosity for a novel CDK10 splice variant	4
Homozygous missense STRADA mutation in a patient with polyhydramnios, megalencephaly and symptomatic epilepsy syndrome	4
Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1	3
First case of Myhre syndrome with schizophrenia	3
Complex craniofacial cleft and accessory maxilla in oculoauriculofrontonasal syndrome	3
PLS3 whole gene deletion as a cause of X-linked osteoporosis: Clinical report with review of published PLS3 literature	3
MSMO1 deficiency: a potentially partially treatable, ultrarare neurodevelopmental disorder with psoriasiform dermatitis, alopecia and polydactyly	3
Two novel truncating variants of the ASPM gene identified in a nonconsanguineous Chinese family associated with primary microcephaly	3
Second reported individual with a partial STAG2 deletion: middle interhemispheric variant holoprosencephaly in STAG2-related cohesinopathy	3
X-Autosome translocations: X-inactivation and effect on phenotype	3
Scalp-Ear-Nipple syndrome: first report of a Potassium channel tetramerization domain-containing 1 in-frame insertion and review of the literature	3
A further case of Skraban-Deardorff syndrome and review of the literature	3
Prenatal differential diagnosis of fibular agenesis, tibial campomelia and oligosyndactyly	3
Novel SH3PXD2B variant identified by whole-exome sequencing in a Turkish newborn with Frank–Ter Haar Syndrome	2
Clinical and molecular characterization of an almost complete ring chromosome 4 in two sisters, with recurrence due to gonadal mosaicism	2
A previous clinical diagnosis of Ullrich–Feichtiger syndrome is molecularly defined as Townes–Brocks syndrome	2
Fragile X syndrome in Democratic Republic of Congo: dysmorphic, cognitive and behavioral findings in 14 subjects from three families	2
Two new cases of nonepileptic neurodevelopmental disorder due to GRIN2B variants and detailed clinical description of the behavioral phenotype	2
Report of an Asian–Indian patient with Okur–Chung Syndrome and comparison of the clinical phenotype in different ethnic groups	2

Clinical and molecular characterization of Costello syndrome in unrelated Mexican patients	2
A second report of recessive type COL4A1-related disorder: a novel homozygous missense variant	2
Association of mutation in PTPN14 gene and gingival fibromatosis with distinctive facies: a novel finding in whole exome sequencing	2
Novel c.1505_1509dupCTGCC pathogenic variation in a male case with Christianson syndrome	2
Neurodevelopmental disorder with microcephaly, ataxia, and seizures syndrome: expansion of the clinical spectrum	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
Homozygous variant p.(Arg163Trp) in PIGH causes glycosylphosphatidylinositol biosynthesis defect with epileptic encephalopathy and delayed myelination	1
A novel frameshift variant in proximal exon 18 of KAT6B gene associated with an overlapping genitopatellar/say barber Biesecker–Young–Simpson syndrome phenotype	1
Two novel CSNK2A1 variants associated with mild Okur-Chung neurodevelopmental syndrome phenotype	1
Clinical and genetic studies of thiamine metabolism dysfunction syndrome-4: case series and review of the literature	1
Overgrowth-associated partial trisomy 15q24.3-qter and mosaic 11p15.5 duplication involving Silver-Russell region in a patient with lateralized asymmetry and developmental delay	1
Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings	1
Unilateral microtia found in association with a de-novo 20q13.33 deletion, is there a causal link?	1
Myhre syndrome associated with hyperinsulinism and impaired glucose tolerance: a novel finding	1
A novel homozygous frameshift mutation in the TUSC3 gene identified in siblings with intellectual disability	1
X-linked Ohdo syndrome due to a novel MED12 variant detected by Rapid Exome Sequencing	1
Clinical implications of mosaicism: a 10-year retrospective review of 83 families in a university-affiliated genetics clinic	1
Dental management in a patient with Crisponi/cold-induced sweating syndrome type 1: a case report	1
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	1
Enostosis in a patient with KBG syndrome caused by a novel missense ANKRD11 variant	1
A novel homozygous deletion in CCDC32 gene causing cardiofacioneurodevelopmental syndrome: the fourth patient reported	1
KIAA0753-related skeletal ciliopathy: a ninth case, extending the phenotype and reporting a novel variant	1
The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patients	1
Dual diagnosis of microcephalic osteosplastic primary dwarfism type II and benign familial infantile seizure type 2: a case report	1
Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling?	1
Variable neurological phenotypes of homocystinuria caused by biallelic methylenetetrahydrofolate reductase variants	1
Automated reanalysis, a novel way to diagnose an ultra-rare condition: Fibronectin-1-related spondylometaphyseal dysplasia (SMD-FN1)	1
Nitrogen Permease Regulator Like-2 (NPRL2) truncating mutation causes Ohtahara syndrome with incomplete penetrance: expanding the genotype-phenotype correlations	1
Long-term outcome of a cohort of Italian patients affected with alpha-Mannosidosis	1
Aphallia in a neonate with VACTERL malformation: report of a rare association	1
Report of an unusual association of hydrosyringomyelia with Gabriele-de Vries syndrome in an Asian-Indian patient	1
Further evidence of biallelic variants in KCNK18 as a cause of intellectual disability and epilepsy with febrile seizure plus	1
A rare rearrangement of 5q31.2 in a child with a neurodevelopmental syndrome	1