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Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General Population
Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General Population
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Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General Population

Nakka, Priyanka ; Pattillo Smith, Samuel ; O’Donnell-Luria, Anne H. ; McManus, Kimberly F. ; Agee, Michelle ; Auton, Adam ; Bell, Robert K. ; Bryc, Katarzyna ; Elson, Sarah L. ; Fontanillas, Pierre ; Furlotte, Nicholas A. ; Hicks, Barry ; Hinds, David A. ; Jewett, Ethan M. ; Jiang, Yunxuan ; Lin, Keng-Han ; McCreight, Jennifer C. ; Huber, Karen E. ; Kleinman, Aaron ; Litterman, Nadia K. ; McIntyre, Matthew H. ; Noblin, Elizabeth S. ; Northover, Carrie A.M. ; Pitts, Steven J. ; Poznik, G. David ; Shelton, Janie F. ; Shringarpure, Suyash ; Tian, Chao ; Tung, Joyce Y. ; Vacic, Vladimir ; Wang, Xin ; Mountain, Joanna L. ; Ramachandran, Sohini ; Sathirapongsasuti, J. Fah

American journal of human genetics, 2019-11, Vol.105 (5), p.921-932 [Peer Reviewed Journal]

United States: Elsevier Inc

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2
The genetic basis of phenotypic heterogeneity in myelodysplastic syndromes
The genetic basis of phenotypic heterogeneity in myelodysplastic syndromes
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The genetic basis of phenotypic heterogeneity in myelodysplastic syndromes

Raza, Azra ; Galili, Naomi

Nature reviews. Cancer, 2012-12, Vol.12 (12), p.849-859 [Peer Reviewed Journal]

England: Nature Publishing Group

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3
Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood
Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood
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Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood

Lokulo-Sodipe, Oluwakemi ; Ballard, Lisa ; Child, Jenny ; Inskip, Hazel M ; Byrne, Christopher D ; Ishida, Miho ; Moore, Gudrun E ; Wakeling, Emma L ; Fenwick, Angela ; Mackay, Deborah J G ; Davies, Justin Huw ; Temple, I Karen

Journal of medical genetics, 2020-10, Vol.57 (10), p.683-691 [Peer Reviewed Journal]

England: BMJ Publishing Group LTD

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4
A case of Usher syndrome type IIA caused by a rare USH2A homozygous frameshift variant with maternal uniparental disomy (UPD) in a Chinese family
A case of Usher syndrome type IIA caused by a rare USH2A homozygous frameshift variant with maternal uniparental disomy (UPD) in a Chinese family
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A case of Usher syndrome type IIA caused by a rare USH2A homozygous frameshift variant with maternal uniparental disomy (UPD) in a Chinese family

Fu, Jiewen ; Shen, Shiyi ; Cheng, Jingliang ; Lv, Hongbin ; Fu, Junjiang

Journal of cellular and molecular medicine, 2020-07, Vol.24 (14), p.7743-7750 [Peer Reviewed Journal]

England: John Wiley & Sons, Inc

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5
Case report: A case of novel homozygous LRBA variant induced by chromosomal segmental uniparental disomy - genetic and clinical insights
Case report: A case of novel homozygous LRBA variant induced by chromosomal segmental uniparental disomy - genetic and clinical insights
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Case report: A case of novel homozygous LRBA variant induced by chromosomal segmental uniparental disomy - genetic and clinical insights

Jiang, Lihua ; Chen, Sen

Frontiers in immunology, 2024-03, Vol.15, p.1351076 [Peer Reviewed Journal]

Switzerland: Frontiers Media S.A

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6
JAK2V617F homozygosity drives a phenotypic switch in myeloproliferative neoplasms, but is insufficient to sustain disease
JAK2V617F homozygosity drives a phenotypic switch in myeloproliferative neoplasms, but is insufficient to sustain disease
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JAK2V617F homozygosity drives a phenotypic switch in myeloproliferative neoplasms, but is insufficient to sustain disease

Li, Juan ; Kent, David G. ; Godfrey, Anna L. ; Manning, Harriet ; Nangalia, Jyoti ; Aziz, Athar ; Chen, Edwin ; Saeb-Parsy, Kourosh ; Fink, Juergen ; Sneade, Rachel ; Hamilton, Tina L. ; Pask, Dean C. ; Silber, Yvonne ; Zhao, Xiaodong ; Ghevaert, Cedric ; Liu, Pentao ; Green, Anthony R.

Blood, 2014-05, Vol.123 (20), p.3139-3151 [Peer Reviewed Journal]

United States: Elsevier Inc

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7
Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy
Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy
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Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy

Kalish, Jennifer M. ; Conlin, Laura K. ; Bhatti, Tricia R. ; Dubbs, Holly A. ; Harris, Mary Catherine ; Izumi, Kosuke ; Mostoufi-Moab, Sogol ; Mulchandani, Surabhi ; Saitta, Sulagna ; States, Lisa J. ; Swarr, Daniel T. ; Wilkens, Alisha B. ; Zackai, Elaine H. ; Zelley, Kristin ; Bartolomei, Marisa S. ; Nichols, Kim E. ; Palladino, Andrew A. ; Spinner, Nancy B. ; Deardorff, Matthew A.

American journal of medical genetics. Part A, 2013-08, Vol.161A (8), p.1929-1939 [Peer Reviewed Journal]

United States: Blackwell Publishing Ltd

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8
Genotype–phenotype correlation in Prader‐Willi syndrome: A large‐sample analysis in China
Genotype–phenotype correlation in Prader‐Willi syndrome: A large‐sample analysis in China
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Genotype–phenotype correlation in Prader‐Willi syndrome: A large‐sample analysis in China

Mao, Shujiong ; Yang, Lili ; Gao, Ying ; Zou, Chaochun

Clinical genetics, 2024-04, Vol.105 (4), p.415-422 [Peer Reviewed Journal]

Oxford, UK: Blackwell Publishing Ltd

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9
Molecular subtype and growth hormone effects on dysmorphology in Prader–Willi syndrome
Molecular subtype and growth hormone effects on dysmorphology in Prader–Willi syndrome
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Molecular subtype and growth hormone effects on dysmorphology in Prader–Willi syndrome

Oldzej, Jeannine ; Manazir, Javeria ; Gold, June‐Anne ; Mahmoud, Ranim ; Osann, Kathryn ; Flodman, Pamela ; Cassidy, Suzanne B. ; Kimonis, Virginia E.

American journal of medical genetics. Part A, 2020-01, Vol.182 (1), p.169-175 [Peer Reviewed Journal]

Hoboken, USA: John Wiley & Sons, Inc

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10
Temple syndrome: A patient with maternal hetero-UPD14, mixed iso- and hetero-disomy detected by SNP microarray typing of patient-father duos
Temple syndrome: A patient with maternal hetero-UPD14, mixed iso- and hetero-disomy detected by SNP microarray typing of patient-father duos
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Temple syndrome: A patient with maternal hetero-UPD14, mixed iso- and hetero-disomy detected by SNP microarray typing of patient-father duos

Shin, Eun-hye ; Cho, Eunhae ; Lee, Cha Gon

Brain & development (Tokyo. 1979), 2016-08, Vol.38 (7), p.669-673 [Peer Reviewed Journal]

Netherlands: Elsevier B.V

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