All papers authored by Leah Dowsett
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2023
Stacy C. Brown,
Christine Anne T. Galang,
Mālialani Kana'iaupuni,
Leah Dowsett 
,
Keolu Fox,
Kazuma Nakagawa
,
Keolu Fox,
Kazuma Nakagawa
Advancing stroke genetics in Hawai‘i and the Pacific Islands
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2021
Katheryn Grand,
Cara M. Skraban ,
Jennifer L. Cohen,
Leah Dowsett ,
Sarah Mazzola,
Jennifer Tarpinian,
Emma Bedoukian,
Addie Nesbitt,
Beth Denenberg,
Lauren Lulis,
Avni Santani,
Elaine H. Zackai,
Matthew A. Deardorff
,
Jennifer L. Cohen,
Leah Dowsett ,
Sarah Mazzola,
Jennifer Tarpinian,
Emma Bedoukian,
Addie Nesbitt,
Beth Denenberg,
Lauren Lulis,
Avni Santani,
Elaine H. Zackai,
Matthew A. Deardorff
Nonlethal presentations of CYP26B1‐related skeletal anomalies and multiple synostoses syndrome
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2020
Keisuke Abe ,
Leah Dowsett ,
Randal Wada,
Kelley Hutchins
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,
Leah Dowsett ,
Randal Wada,
Kelley Hutchins
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Cedrik Tekendo‐Ngongang,
Babajide Owosela,
Nicole Fleischer,
Yonit A. Addissie,
Bryan Malonga,
Ebenezer Badoe,
Neerja Gupta,
Angélica Moresco,
Victoria Huckstadt,
Engy A. Ashaat,
Dalia Farouk Hussen,
Ho‐Ming Luk ,
Ivan F. M. Lo,
Brian Hon‐Yin Chung ,
Jasmine L. F. Fung
and 28 other authors
,
Ivan F. M. Lo,
Brian Hon‐Yin Chung ,
Jasmine L. F. Fung
and 28 other authors
Rubinstein–Taybi syndrome in diverse populations
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Rachel Rabin ,
Alireza Radmanesh,
Ian A. Glass,
William B. Dobyns ,
Kimberly A. Aldinger,
Joseph T. Shieh,
Shelby Romoser,
Hannah Bombei,
Leah Dowsett ,
Pamela Trapane,
John A. Bernat,
Janice Baker,
Nancy J. Mendelsohn,
Bernt Popp,
Manuela Siekmeyer
and 26 other authors
,
Alireza Radmanesh,
Ian A. Glass,
William B. Dobyns ,
Kimberly A. Aldinger,
Joseph T. Shieh,
Shelby Romoser,
Hannah Bombei,
Leah Dowsett ,
Pamela Trapane,
John A. Bernat,
Janice Baker,
Nancy J. Mendelsohn,
Bernt Popp,
Manuela Siekmeyer
and 26 other authors
Genotype–phenotype correlation at codon 1740 of SETD2
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2019
Lauren B. Carter ,
Agatino Battaglia ,
Athena Cherry,
Melanie A. Manning,
Maura Rz Ruzhnikov,
Lynne M. Bird,
Leah Dowsett ,
John M. Graham,
Fowzan S. Alkuraya ,
Mais Hashem,
Mary Beth Dinulos,
Stephanie Vallee,
Margaret P. Adam,
Ian Glass,
Anita E. Beck
and 9 other authors
,
Agatino Battaglia ,
Athena Cherry,
Melanie A. Manning,
Maura Rz Ruzhnikov,
Lynne M. Bird,
Leah Dowsett ,
John M. Graham,
Fowzan S. Alkuraya ,
Mais Hashem,
Mary Beth Dinulos,
Stephanie Vallee,
Margaret P. Adam,
Ian Glass,
Anita E. Beck
and 9 other authors
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy
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Leah Dowsett ,
Antonio R. Porras,
Paul Kruszka ,
Brandon Davis,
Tommy Hu,
Engela Honey,
Eben Badoe,
Meow‐Keong Thong,
Eyby Leon,
Katta M. Girisha ,
Anju Shukla ,
Shalini S. Nayak,
Vorasuk Shotelersuk,
Andre Megarbane,
Shubha Phadke
and 52 other authors
,
Antonio R. Porras,
Paul Kruszka ,
Brandon Davis,
Tommy Hu,
Engela Honey,
Eben Badoe,
Meow‐Keong Thong,
Eyby Leon,
Katta M. Girisha ,
Anju Shukla ,
Shalini S. Nayak,
Vorasuk Shotelersuk,
Andre Megarbane,
Shubha Phadke
and 52 other authors
Cornelia de Lange syndrome in diverse populations
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2018
Paul Kruszka ,
Antonio R. Porras,
Deise Helena de Souza,
Angélica Moresco,
Victoria Huckstadt,
Ashleigh D. Gill,
Alec P. Boyle,
Tommy Hu,
Yonit A. Addissie,
Gary T. K. Mok,
Cedrik Tekendo-Ngongang,
Karen Fieggen,
Eloise J. Prijoles,
Pranoot Tanpaiboon,
Engela Honey
and 54 other authors
,
Antonio R. Porras,
Deise Helena de Souza,
Angélica Moresco,
Victoria Huckstadt,
Ashleigh D. Gill,
Alec P. Boyle,
Tommy Hu,
Yonit A. Addissie,
Gary T. K. Mok,
Cedrik Tekendo-Ngongang,
Karen Fieggen,
Eloise J. Prijoles,
Pranoot Tanpaiboon,
Engela Honey
and 54 other authors
Williams-Beuren syndrome in diverse populations
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