Publications by authors named "Nerine Gregersen"

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Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders.
Yukina Hayashi, Kenta Kajiwara, Seiji Mizuno, Nobuhiko Okamoto, Mei Yan Chan, Nerine Gregersen

J Hum Genet· December 2025

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Germline mosaicism in TCF20-associated neurodevelopmental disorders: a case study and literature review.
Jessie Poquérusse, Whitney Whitford, Juliet Taylor, Nerine Gregersen, Donald R Love

J Hum Genet· April 2025

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Phosphodiesterase 3A and Arterial Hypertension.
Maria Ercu, Lajos Markó, Carolin Schächterle, Dmitry Tsvetkov, Yingqiu Cui, Nerine Gregersen

Circulation· July 2020

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Saccular Cyst and Airway Compromise in a New Born With Ciliopathy.
Maayan Gruber, Nerine Gregersen, Jo Hegarty, Murali Mahadevan, Lesley Salkeld

Ear Nose Throat J· May 2020

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Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
Futoshi Sekiguchi, Yoshinori Tsurusaki, Nobuhiko Okamoto, Keng Wee Teik, Seiji Mizuno, Nerine Gregersen

J Hum Genet· December 2019

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A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.
Eric Lee, Trang Le, Ying Zhu, George Elakis, Anne Turner, Nerine Gregersen

Genet Med· September 2018

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The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients.
Ngoc Minh Phuong Nguyen, Yassemine Khawajkie, Nawel Mechtouf, Maryam Rezaei, Magali Breguet, Nerine Gregersen

Mod Pathol· July 2018

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12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region.
Adrian Mc Cormack, Cynthia Sharpe, Nerine Gregersen, Warwick Smith, Ian Hayes

Case Rep Genet· August 2015

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Delineation of 2q32q35 deletion phenotypes: two apparent "proximal" and "distal" syndromes.
Adrian Mc Cormack, Juliet Taylor, Nerine Gregersen, Alice M George, Donald R Love

Case Rep Genet· July 2013

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The Greater Sekhukhune-CAPABILITY outreach project.
Nerine Gregersen, Julie Lampret, Tony Lane, Arnold Christianson

J Community Genet· July 2013

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Thyroid dysfunction in a cohort of South African children with Down syndrome.
Shahida Moosa, David G Segal, Arnold L Christianson, Nerine E Gregersen

S Afr Med J· July 2013

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Developmental delay referrals and the roles of Fragile X testing and molecular karyotyping: a New Zealand perspective.
Elaine Doherty, Rachel O'Connor, Anna Zhang, Christina Lim, Jennifer M Love, Nerine Gregersen

Mol Med Rep· May 2013

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Clinical Outcomes and Counselling Issues regarding Partial Trisomy of Terminal Xp in a Child with Developmental Delay.
Karen L Sheath, Roberto L Mazzaschi, Salim Aftimos, Nerine E Gregersen, Alice M George

Sultan Qaboos Univ Med J· May 2013

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Novel CYP2C9 and VKORC1 gene variants associated with warfarin dosage variability in the South African black population.
Cathrine Mitchell, Nerine Gregersen, Amanda Krause

Pharmacogenomics· July 2011

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Facial asymmetry with colon atresia.
Nerine Gregersen

Clin Dysmorphol· January 2006

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Costello syndrome with growth hormone deficiency and hypoglycemia: a new report and review of the endocrine associations.
Nerine Gregersen, Denis Viljoen

Am J Med Genet A· August 2004

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