Kirstin Smith - Department of Genetics, University of Alabama at Birmingham

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论文共 10 篇作者统计合作学者相似作者

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Inherited CSNK2A1 variants in families with Okur-Chung neurodevelopmental syndrome

Newell Belnap, Aiai Price-Smith,Keri Ramsey, Kamawela Leka, Anna Abraham, Emma Lieberman, Katie Hassett, Sai Potu, Natasha Rudy,Kirstin Smith,Fady M. Mikhail, Kirstin G. Monaghan,

CLINICAL GENETICSno. 5 (2023): 607-609

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Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder

Sébastien Küry,Frédéric Ebstein,Alice Mollé,Thomas Besnard,Ming-Kang Lee,Virginie Vignard,Tiphaine Hery,Mathilde Nizon,Grazia M S Mancini,Jacques C Giltay,Benjamin Cogné,Kirsty McWalter,

The American Journal of Human Genetics（2022）

引用3浏览0WOS引用

Consolidation of the clinical and genetic definition of aSOX4-related neurodevelopmental syndrome

Marco Angelozzi,Anirudha Karvande,Arnaud Molin,Alyssa Ritter,Jacqueline Leonard, Juliann M. Savatt, Kristen Douglass, Scott M. Myers,Mina Grippa, Dara Tolchin,Elaine H. Zackai, Sarah Donoghue,

Journal of Medical Geneticsno. 11 (2022): 1058-1068

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Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea

Janina Sörmann,Marcus Schewe,Peter Proks,Thibault Jouen-Tachoire,Shanlin Rao,Elena B. Riel,Katherine E. Agre,Amber Begtrup,John Dean,Maria Descartes,Jan Fischer,Alice Gardham,

NATURE GENETICS（2022）

引用9浏览0WOSNATURE引用

Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome

Marco Angelozzi,Anirudha Karvande,Arnaud N Molin,Alyssa L Ritter,Jacqueline M M Leonard,Juliann M Savatt, Kristen Douglass,Scott M Myers,Mina Grippa,Dara Tolchin,Elaine Zackai,Sarah Donoghue,

JOURNAL OF MEDICAL GENETICS（2022）

引用7浏览0WOS引用

Lmna Mutation In A Patient With Progeroid Features And Dilated Cardiomyopathy

Katherine Mascia,Kirstin Smith,Maria Descartes

MOLECULAR GENETICS AND METABOLISM（2021）

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Defective X-gating caused by de novo gain-of-function mutations in KCNK3 underlies a developmental disorder with sleep apnea

Janina Sörmann,Marcus Schewe,Peter Proks,Thibault Jouen-Tachoire,Shanlin Rao,Elena B. Riel,Katherine E. Agre,Amber Begtrup,John Dean,Maria Descartes,Jan Fischer,Alice Gardham,

medRxiv (2021)

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Keratoconus In A Patient With B3galt6-Related Disorder

Maria Descartes, Yulia V Melenevsky,Natasha Rudy,Kirstin Smith,Kaitlin Callaway,Jack S Parker

CLINICAL GENETICS（2021）

引用2浏览0WOS引用

Author response for "Keratoconus in a patient with B3GALT6 ‐related disorder"

Maria Descartes, Yulia V. Melenevsky, Natasha Rudy, Kirstin Smith, Kaitlin Callaway, Jack S. Parker

crossref（2021）

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Defective X-gating caused byde novogain-of-function mutations inKCNK3underlies a developmental disorder with sleep apnea

Janina Sörmann,Marcus Schewe,Peter Proks, Thibault Jouen-Tachoire,Shanlin Rao,Elena B. Riel,Katherine E. Agre,Amber Begtrup,John Dean,Maria Descartes,Jan Fischer,Alice Gardham,

medRxiv (Cold Spring Harbor Laboratory) (2021)

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