Publications by authors named "Ann Seman"

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A qualitative investigation of Ehlers-Danlos syndrome genetics triage.
Kaycee Carbone, Ann Seman, Catherine Clinton, Renée Pelletier

J Genet Couns· August 2025

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Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.
Anna R Duncan, Antonio Vitobello, Stephan C Collins, Valerie E Vancollie, Christopher J Lelliott, Ann R Seman

Am J Hum Genet· December 2020

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A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.
Theodore G Drivas, Dong Li, Divya Nair, Joseph T Alaimo, Mariëlle Alders, Ann R Seman

Eur J Hum Genet· October 2020

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MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Christopher C Y Mak, Dan Doherty, Angela E Lin, Nancy Vegas, Megan T Cho, Ann Seman

Brain· January 2020

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Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.
Almundher Al-Maawali, Brenda J Barry, Anna Rajab, Malak El-Quessny, Ann Seman

Am J Med Genet A· February 2016

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Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield.
Juan Geng, Jonathan Picker, Zhaojing Zheng, Xiaoqing Zhang, Jian Wang, Ann Seman

BMC Genomics· December 2014

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