Susan M. White; Annelotte P. Wondergem; Isa Breet; Maren Dittmaier; Katrina Bell; Christopher M. Richmond; Winita Hardikar; Kanika Bhatia; Catherine Quinlan; David Orchard; Areetha D’Souza; Walter J. Chazin; Christopher Smith; Rebecca Sparkes; Simon Lam; Alexandra Carter; Robert J. Hopkin; Leticia Khendek; Bonnie R. Sullivan; Naja Becher; Anne Katrine W. Simonsen; Helene Kvistgaard; Katherine Dempsey; Alexander G. Miethke; Pernille Axél Gregersen; Eliza Phillips; Martijn S. Luijsterburg

Functional characterization of human recessive DIS3 variants in premature ovarian insufficiency

BIOLOGY OF REPRODUCTION

IF3

2024-10-140

OAAI

Diverse genetic causes of amenorrhea in an ethnically homogeneous cohort and an evolving approach to diagnosis

MOLECULAR AND CELLULAR ENDOCRINOLOGY

IF3.6

2024-06-011

OAAI

Integrated multi-omics for rapid rare disease diagnosis on a national scale

NATURE MEDICINE

IF50

2023-06-0835

OAAI

Lunke, Sebastian; Bouffler, Sophie. E. E.; Patel, Chirag. V. V.; Sandaradura, Sarah. A. A.; Wilson, Meredith; Pinner, Jason; Hunter, Matthew. F. F.; Barnett, Christopher. P. P.; Wallis, Mathew; Kamien, Benjamin; Tan, Tiong. Y. Y.; Freckmann, Mary-Louise; Chong, Belinda; Phelan, Dean; Francis, David; Kassahn, Karin. S. S.; Ha, Thuong; Gao, Song; Arts, Peer; Jackson, Matilda. R. S. R.; Scott, Hamish. S. S.; Eggers, Stefanie; Rowley, Simone; Boggs, Kirsten; Rakonjac, Ana; Brett, Gemma. R. R.; de Silva, Michelle. G. G.; Springer, Amanda; Ward, Michelle; Stallard, Kirsty; Simons, Cas; Conway, Thomas; Halman, Andreas; Van Bergen, Nicole. J. J.; Sikora, Tim; Semcesen, Liana. N. N.; Stroud, David. A. A.; Compton, Alison. G. G.; Thorburn, David. R. R.; Bell, Katrina. M. M.; Sadedin, Simon; North, Kathryn. N. N.; Christodoulou, John; Stark, Zornitza

Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency

HUMAN GENETICS

IF3.6

2023-05-0613

OAAI

Bakhshalizadeh, Shabnam; Hock, Daniella. H. H.; Siddall, Nicole. A. A.; Kline, Brianna. L. L.; Sreenivasan, Rajini; Bell, Katrina. M. M.; Casagranda, Franca; Kamalanathan, Sadishkumar; Sahoo, Jayaprakash; Narayanan, Niya; Naik, Dukhabandhu; Suryadevara, Varun; Compton, Alison. G. G.; Amarasekera, Sumudu S. C.; Kapoor, Ridam; Jaillard, Sylvie; Simpson, Andrea; Robevska, Gorjana; van den Bergen, Jocelyn; Pachernegg, Svenja; Ayers, Katie. L. L.; Thorburn, David. R. R.; Stroud, David. A. A.; Hime, Gary. R. R.; Sinclair, Andrew. H. H.; Tucker, Elena. J. J.

Modeling human skeletal development using human pluripotent stem cells

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IF9.1

2023-05-0121

OAAI

Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

IF5.1

2022-09-0915

Tucker, Elena J.; Baker, Megan J.; Hock, Daniella H.; Warren, Julia T.; Jaillard, Sylvie; Bell, Katrina M.; Sreenivasan, Rajini; Bakhshalizadeh, Shabnam; Hanna, Chloe A.; Caruana, Nikeisha J.; Wortmann, Saskia B.; Rahman, Shamima; Pitceathly, Robert D. S.; Donadieu, Jean; Alimi, Aurelia; Launay, Vincent; Coppo, Paul; Christin-Maitre, Sophie; Robevska, Gorjana; van den Bergen, Jocelyn; Kline, Brianna L.; Ayers, Katie L.; Stewart, Phoebe N.; Stroud, David A.; Stojanovski, Diana; Sinclair, Andrew H.

Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency

HUMAN MUTATION

IF3.7

2022-07-2911

OAAI

Whole exome sequencing reveals copy number variants in individuals with disorders of sex development

MOLECULAR AND CELLULAR ENDOCRINOLOGY

IF3.6

2022-04-019

PRE

Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program

JOURNAL OF MEDICAL GENETICS

IF3.7

2021-11-0515

Cloney, Thomas; Gallacher, Lyndon; Pais, Lynn S.; Tan, Natalie B.; Yeung, Alison; Stark, Zornitza; Brown, Natasha J.; McGillivray, George; Delatycki, Martin B.; de Silva, Michelle G.; Downie, Lilian; Stutterd, Chloe A.; Elliott, Justine; Compton, Alison G.; Lovgren, Alysia; Oertel, Ralph; Francis, David; Bell, Katrina M.; Sadedin, Simon; Lim, Sze Chern; Helman, Guy; Simons, Cas; Macarthur, Daniel G.; Thorburn, David R.; O'Donnell-Luria, Anne H.; Christodoulou, John; White, Susan M.; Tan, Tiong Yang

Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2021-10-2829

A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss

HUMAN GENETICS

IF3.6

2021-10-1321

PREAI

Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans

HUMAN MOLECULAR GENETICS

IF3.2

2021-09-077

New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencing

MATURITAS

IF3.6

2020-11-0155

OAAI

Jaillard, Sylvie; Bell, Katrina; Akloul, Linda; Walton, Kelly; McElreavy, Kenneth; Stocker, William A.; Beaumont, Marion; Harrisson, Craig; Jaaskelainen, Tiina; Palvimo, Jorma J.; Robevska, Gorjana; Launay, Erika; Satie, Anne-Pascale; Listyasari, Nurin; Bendavid, Claude; Sreenivasan, Rajini; Duros, Solene; van den Bergen, Jocelyn; Henry, Catherine; Domin-Bernhard, Mathilde; Cornevin, Laurence; Dejucq-Rainsford, Nathalie; Belaud-Rotureau, Marc-Antoine; Odent, Sylvie; Ayers, Katie L.; Ravel, Celia; Tucker, Elena J.; Sinclair, Andrew H.

STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia

MOLECULAR HUMAN REPRODUCTION

IF3.5

2020-07-0733

OAAI

Katrina M. Bell

个人简介

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