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Novel heterozygous OPA3 variant in a family with congenital cataracts, sensorineural hearing loss and neuropathy, without optic atrophy and comparison of pathogenic and population variants. Am J Med Genet A. 2025 Jan; 197(1):e63846.
Penon-Portmann M, Naugle K, Brodie F, Schallhorn J, Griggs P, So J. PMID: 39166438.
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Humans
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When rare meets common: Treatable genetic diseases are enriched in the general psychiatric population. Am J Med Genet A. 2024 08; 194(8):e63609.
Sriretnakumar V, Harripaul R, Kennedy JL, So J. PMID: 38532509.
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Humans
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The Diagnostic Landscape of Adult Neurogenetic Disorders. Biology (Basel). 2023 Nov 22; 12(12).
Waung MW, Ma F, Wheeler AG, Zai CC, So J. PMID: 38132285; PMCID: PMC10740572.
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1
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An adult male with SHANK2 variant with epilepsy and obsessive-compulsive disorder: Expanding the shankopathy phenotypic spectrum. Clin Genet. 2022 04; 101(4):472-473.
Chenbhanich J, So J. PMID: 35037239.
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1 Fields:
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Humans
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Utilization of the 2017 diagnostic criteria for hEDS by the Toronto GoodHope Ehlers-Danlos syndrome clinic: A retrospective review. Am J Med Genet A. 2020 03; 182(3):484-492.
McGillis L, Mittal N, Santa Mina D, So J, Soowamber M, Weinrib A, Soever L, Rozenberg D, Liu L, Tse Y, Katz J, Charames GS, Murphy K, Vadas P, Slepian MP, Walsh S, Wilson L, Adler A, Franzese A, Hussey L, Nevay DL, Guzman J, Clarke H. PMID: 31840928.
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11 Fields:
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Humans
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Copy number variant syndromes are frequent in schizophrenia: Progressing towards a CNV-schizophrenia model. Schizophr Res. 2019 07; 209:171-178.
Sriretnakumar V, Zai CC, Wasim S, Barsanti-Innes B, Kennedy JL, So J. PMID: 31080157.
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2 Fields:
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Humans
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The expanding phenotypic spectrum of female SLC9A6 mutation carriers: a case series and review of the literature. Hum Genet. 2016 08; 135(8):841-50.
Sinajon P, Verbaan D, So J. PMID: 27142213.
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20 Fields:
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Humans
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A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype. J Med Genet. 2016 08; 53(8):523-32.
Beunders G, van de Kamp J, Vasudevan P, Morton J, Smets K, Kleefstra T, de Munnik SA, Schuurs-Hoeijmakers J, Ceulemans B, Zollino M, Hoffjan S, Wieczorek S, So J, Mercer L, Walker T, Velsher L, DDD study, Parker MJ, Magee AC, Elffers B, Kooy RF, Yntema HG, Meijers-Heijboer EJ, Sistermans EA. PMID: 27075013.
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35 Fields:
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Humans
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Deletion of 15q11.2(BP1-BP2) region: further evidence for lack of phenotypic specificity in a pediatric population. Am J Med Genet A. 2015 Sep; 167A(9):2098-102.
Hashemi B, Bassett A, Chitayat D, Chong K, Feldman M, Flanagan J, Goobie S, Kawamura A, Lowther C, Prasad C, Siu V, So J, Tung S, Speevak M, Stavropoulos DJ, Carter MT. PMID: 25946043.
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22 Fields:
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HumansCells
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De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. Hum Mutat. 2015 Apr; 36(4):454-62.
Gil-Rodríguez MC, Deardorff MA, Ansari M, Tan CA, Parenti I, Baquero-Montoya C, Ousager LB, Puisac B, Hernández-Marcos M, Teresa-Rodrigo ME, Marcos-Alcalde I, Wesselink JJ, Lusa-Bernal S, Bijlsma EK, Braunholz D, Bueno-Martinez I, Clark D, Cooper NS, Curry CJ, Fisher R, Fryer A, Ganesh J, Gervasini C, Gillessen-Kaesbach G, Guo Y, Hakonarson H, Hopkin RJ, Kaur M, Keating BJ, Kibaek M, Kinning E, Kleefstra T, Kline AD, Kuchinskaya E, Larizza L, Li YR, Liu X, Mariani M, Picker JD, Pié Á, Pozojevic J, Queralt E, Richer J, Roeder E, Sinha A, Scott RH, So J, Wusik KA, Wilson L, Zhang J, Gómez-Puertas P, Casale CH, Ström L, Selicorni A, Ramos FJ, Jackson LG, Krantz ID, Das S, Hennekam RC, Kaiser FJ, FitzPatrick DR, Pié J. PMID: 25655089.
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39 Fields:
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Humans
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Expanding the clinical spectrum of ocular anomalies in Noonan syndrome: Axenfeld-anomaly in a child with PTPN11 mutation. Am J Med Genet A. 2015 Feb; 167A(2):403-6.
Guerin A, So J, Mireskandari K, Jougeh-Doust S, Chisholm C, Klatt R, Richer J. PMID: 25425531.
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1 Fields:
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Humans
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Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region. Am J Med Genet A. 2014 Feb; 164A(2):511-5.
So J, Stockley T, Stavropoulos DJ. PMID: 24311471.
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9 Fields:
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Humans
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Diagnosis of a terminal deletion of 4p with duplication of Xp22.31 in a patient with findings of Opitz G/BBB syndrome and Wolf-Hirschhorn syndrome. Am J Med Genet A. 2008 Jan 01; 146A(1):103-9.
So J, Müller I, Kunath M, Herrmann S, Ullmann R, Schweiger S. PMID: 18074389.
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2 Fields:
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HumansCells
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Congenital chylothorax in Opitz G/BBB syndrome. Am J Med Genet A. 2006 May 15; 140(10):1119-21.
Funke S, Kellermayer R, Czakó M, So J, Kosztolányi G, Ertl T. PMID: 16619207.
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2 Fields:
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Humans
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Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. Am J Med Genet A. 2005 Jan 01; 132A(1):1-7.
So J, Suckow V, Kijas Z, Kalscheuer V, Moser B, Winter J, Baars M, Firth H, Lunt P, Hamel B, Meinecke P, Moraine C, Odent S, Schinzel A, van der Smagt JJ, Devriendt K, Albrecht B, Gillessen-Kaesbach G, van der Burgt I, Petrij F, Faivre L, McGaughran J, McKenzie F, Opitz JM, Cox T, Schweiger S. PMID: 15558842.
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PubMed Mentions:
19 Fields:
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Humans