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 2020-05-01 to 2024-05-01.)

Article	Citations
Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion	12
SOX11-related syndrome: report on a new case and review	8
Recurrent c.776T>C mutation in CHST3 with four other novel mutations and a literature review	7
Two novel pathogenic variants in KIAA1109 causing Alkuraya-Kučinskas syndrome in two Czech Roma brothers	7
Recurrent 1q21.1 deletion syndrome: report on variable expression, nonpenetrance and review of literature	5
A novel EFTUD2 mutation identified an adult male with mandibulofacial dysostosis Guion-Almeida type	5
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
Homozygous missense STRADA mutation in a patient with polyhydramnios, megalencephaly and symptomatic epilepsy syndrome	4
Distinguishing Marshall from Stickler syndrome: a clinical and genetic challenge	4
A sib-pair with Al Kaissi syndrome caused by homozygosity for a novel CDK10 splice variant	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	3
Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly	3
Complex craniofacial cleft and accessory maxilla in oculoauriculofrontonasal syndrome	3
Distal arthrogryposis type 5D in a South Indian family caused by novel deletion in ECEL1 gene	3
Chromosome 4q28.3q32.3 duplication in a patient with lymphatic malformations, craniosynostosis, and dysmorphic features	3
Two novel truncating variants of the ASPM gene identified in a nonconsanguineous Chinese family associated with primary microcephaly	3
X-Autosome translocations: X-inactivation and effect on phenotype	3
Temple-Baraitser syndrome with KCNH1 Asn510Thr: a new case report	3
Pierpont syndrome due to mutation c.1337A>G in TBL1XR1 gene	3
Two cases of Nicolaides-Baraitser syndrome, one with a novel SMARCA2 variant	2
A de-novo NFIX mutation causes a case of neonatal lethal Marshall–Smith syndrome	2
Novel SH3PXD2B variant identified by whole-exome sequencing in a Turkish newborn with Frank–Ter Haar Syndrome	2
A patient with mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratodermia syndrome caused by AP1B1 gene variant	2

Limb anomalies, microcephaly, dysmorphic facial features and fibroma of the tongue after failed abortion with methotrexate and misoprostol	2
A further case of Skraban-Deardorff syndrome and review of the literature	2
Prenatal differential diagnosis of fibular agenesis, tibial campomelia and oligosyndactyly	2
PLS3 whole gene deletion as a cause of X-linked osteoporosis: Clinical report with review of published PLS3 literature	2
A second report of recessive type COL4A1-related disorder: a novel homozygous missense variant	2
Novel missense mutation c.1784A>G, p.Tyr595Cys in RPS6KA3 gene responsible for Coffin–Lowry syndrome in a family with variable features and diabetes 2	2
Clinical and molecular characterization of Costello syndrome in unrelated Mexican patients	2
Delayed diagnosis of Williams–Beuren syndrome in an adolescent of Jamaican descent: examining racial disparities in genetics education	2
Second reported individual with a partial STAG2 deletion: middle interhemispheric variant holoprosencephaly in STAG2-related cohesinopathy	2
Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1	2
Clinical and molecular characterization of an almost complete ring chromosome 4 in two sisters, with recurrence due to gonadal mosaicism	2
Association of mutation in PTPN14 gene and gingival fibromatosis with distinctive facies: a novel finding in whole exome sequencing	2
Scalp-Ear-Nipple syndrome: first report of a Potassium channel tetramerization domain-containing 1 in-frame insertion and review of the literature	2
Report of an unusual association of hydrosyringomyelia with Gabriele-de Vries syndrome in an Asian-Indian patient	1
KIAA0753-related skeletal ciliopathy: a ninth case, extending the phenotype and reporting a novel variant	1
A rare rearrangement of 5q31.2 in a child with a neurodevelopmental syndrome	1
A child with congenital short gut associated with DYNC2LI1 ciliopathy	1
Unilateral microtia found in association with a de-novo 20q13.33 deletion, is there a causal link?	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
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
Two new cases of nonepileptic neurodevelopmental disorder due to GRIN2B variants and detailed clinical description of the behavioral phenotype	1
Expansion of the phenotypic spectrum of SMC1A nonsense variants: a patient with cerebellar atrophy and review of the literature	1
Mongolian spots in GM1 gangliosidosis: a pictorial report	1
Long-term outcome of a cohort of Italian patients affected with alpha-Mannosidosis	1
8p23.2p22 deletion: a case report of a large deletion encompassing 8p23.1 with additional clinical features	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
Novel c.1505_1509dupCTGCC pathogenic variation in a male case with Christianson syndrome	1
First case of Myhre syndrome with schizophrenia	1
Expanding the phenotype of PURA-related neurodevelopmental disorder: a close differential diagnosis of infantile hypotonia with psychomotor retardation and characteristic facies	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
Partial monosomy of chromosome 21 and congenital malformations monosomy of chromosome 21 and malformations	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
Clinical implications of mosaicism: a 10-year retrospective review of 83 families in a university-affiliated genetics clinic	1
Report of an Asian–Indian patient with Okur–Chung Syndrome and comparison of the clinical phenotype in different ethnic groups	1
A previous clinical diagnosis of Ullrich–Feichtiger syndrome is molecularly defined as Townes–Brocks syndrome	1
Two novel CSNK2A1 variants associated with mild Okur-Chung neurodevelopmental syndrome phenotype	1
Further evidence of biallelic variants in KCNK18 as a cause of intellectual disability and epilepsy with febrile seizure plus	1
MSMO1 deficiency: a potentially partially treatable, ultrarare neurodevelopmental disorder with psoriasiform dermatitis, alopecia and polydactyly	1
The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patients	1
Myhre syndrome associated with hyperinsulinism and impaired glucose tolerance: a novel finding	1
Neurodevelopmental disorder with microcephaly, ataxia, and seizures syndrome: expansion of the clinical spectrum	1
Automated reanalysis, a novel way to diagnose an ultra-rare condition: Fibronectin-1-related spondylometaphyseal dysplasia (SMD-FN1)	1
A novel mutation in MYCN gene causing congenital absence of the flexor pollicis longus tendon as an unusual presentation of Feingold syndrome 1	1
A novel HIST1HE pathogenic variant in a girl with macrocephaly and intellectual disability: a new case and review of literature	1
Nitrogen Permease Regulator Like-2 (NPRL2) truncating mutation causes Ohtahara syndrome with incomplete penetrance: expanding the genotype-phenotype correlations	1
Clinical and genetic characterization of congenital lipoid adrenal hyperplasia	1
Enostosis in a patient with KBG syndrome caused by a novel missense ANKRD11 variant	1
Novel clinical features and pleiotropic effect in three unrelated patients with LMNA variant	1