Kate Neas

Affiliations

Cardiac Inherited Disease Group, Auckland, New Zealand; Genetic Health Service NZ, New Zealand.

Publications (11)

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.

American journal of medical genetics. Part A

Avec: Amy Hardcastle , Aliska M Berry , Ian M Campbell , Xiaonan Zhao , Pengfei Liu , Amanda E Gerard , Jill A Rosenfeld , Saumya D Sisoudiya , Andres Hernandez-Garcia , Sara Loddo , Silvia Di Tommaso , Antonio Novelli , Maria L Dentici , Rossella Capolino , Maria C Digilio , Ludovico Graziani , Cecilie F Rustad , Katherine Neas , Giovanni B Ferrero , Alfredo Brusco , Eleonora Di Gregorio , Diana Wellesley , Claire Beneteau , Madeleine Joubert , Kris Van Den Bogaert , Anneleen Boogaerts , Dominic J McMullan , John Dean , Maria G Giuffrida , Laura Bernardini , Vinod Varghese , Nora L Shannon , Rachel E Harrison , Wayne W K Lam , Shane McKee , Peter D Turnpenny , Trevor Cole , Jenny Morton , Jacqueline Eason , Marilyn C Jones , Rebecca Hall , Michael Wright , Karen Horridge , Chad A Shaw , Wendy K Chung , Daryl A Scott

Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return.

European journal of human genetics : EJHG

Avec: Emily A Huth , Xiaonan Zhao , Nichole Owen , Pamela N Luna , Ida Vogel , Inger L H Dorf , Shelagh Joss , Jill Clayton-Smith , Michael J Parker , Jacoba J Louw , Marc Gewillig , Jeroen Breckpot , Alison Kraus , Erina Sasaki , Usha Kini , Trent Burgess , Tiong Y Tan , Ruth Armstrong , Katherine Neas , Giovanni B Ferrero , Alfredo Brusco , Wihelmina S Kerstjens-Frederikse , Julia Rankin , Lindsey R Helvaty , Benjamin J Landis , Gabrielle C Geddes , Kim L McBride , Stephanie M Ware , Chad A Shaw , Seema R Lalani , Jill A Rosenfeld , Daryl A Scott

A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.

Human mutation

Avec: Kathie J Ngo , Jessica E Rexach , Hane Lee , Lauren E Petty , Susan Perlman , Juliana M Valera , Joshua L Deignan , Yuanming Mao , Mamdouh Aker , Jennifer E Posey , Shalini N Jhangiani , Zeynep H Coban-Akdemir , Eric Boerwinkle , Donna Muzny , Alexandra B Nelson , Sharon Hassin-Baer , Gemma Poke , Katherine Neas , Michael D Geschwind , Wayne W Grody , Richard Gibbs , Daniel H Geschwind , James R Lupski , Jennifer E Below , Stanley F Nelson , Brent L Fogel

Epidemiological, clinical, pathological and genetic characteristics of epidermolysis bullosa in New Zealand.

The Australasian journal of dermatology

Avec: Russell Gear , Gemma Poke , Katherine Neas , Jacqui Finnigan , Sharon Cassidy , Deanna Forsyth , Mo Blishen , Diana Purvis

Biallelic variants in SLC35C1 as a cause of isolated short stature with intellectual disability.

Journal of human genetics

Avec: Karen M Knapp , Rebecca Luu , Melissa Baerenfaenger , Fokje Zijlstra , Hans J C T Wessels , Danielle Jenkins , Dirk J Lefeber , Katherine Neas , Louise S Bicknell

A Population-Based Registry of Patients With Inherited Cardiac Conditions and Resuscitated Cardiac Arrest.

Journal of the American College of Cardiology

Avec: Cynthia Rucinski , Annika Winbo , Luciana Marcondes , Nikki Earle , Martin Stiles , Rachael Stiles , Darren Hooks , Kate Neas , Ian Hayes , Jackie Crawford , Andrew Martin , Jonathan R Skinner

UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism.

American journal of human genetics

Avec: Chunmei Li , Eliane Beauregard-Lacroix , Christine Kondratev , Justine Rousseau , Ah Jung Heo , Katherine Neas , Brett H Graham , Jill A Rosenfeld , Carlos A Bacino , Matias Wagner , Maren Wenzel , Fuad Al Mutairi , Hamad Al Deiab , Joseph G Gleeson , Valentina Stanley , Maha S Zaki , Yong Tae Kwon , Michel R Leroux , Philippe M Campeau

Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome.

American journal of medical genetics. Part A

Avec: Sandy Ayoub , Neeti Ghali , Chloe Angwin , Duncan Baker , Stella Baffini , Angela F Brady , Maria Luisa Giovannucci Uzielli , Cecilia Giunta , Diana S Johnson , Tomoki Kosho , Katherine Neas , F Michael Pope , Frank Rutsch , Gloria Scarselli , Glenda Sobey , Anthony Vandersteen , Fleur S van Dijk

Spinocerebellar Ataxia type 29 in a family of Māori descent.

Cerebellum & ataxias

Avec: Kathie J Ngo , Gemma Poke , Katherine Neas , Brent L Fogel

WGS and RNA Studies Diagnose Noncoding

Neurology. Genetics

Avec: Leigh B Waddell , Samantha J Bryen , Beryl B Cummings , Adam Bournazos , Frances J Evesson , Himanshu Joshi , Jamie L Marshall , Taru Tukiainen , Elise Valkanas , Ben Weisburd , Simon Sadedin , Mark R Davis , Fathimath Faiz , Rebecca Gooding , Sarah A Sandaradura , Gina L O'Grady , Michel C Tchan , David R Mowat , Emily C Oates , Michelle A Farrar , Hugo Sampaio , Alan Ma , Katherine Neas , Min-Xia Wang , Amanda Charlton , Charles Chan , Diane N Kenwright , Nicole Graf , Susan Arbuckle , Nigel F Clarke , Daniel G MacArthur , Kristi J Jones , Monkol Lek , Sandra T Cooper

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.

American journal of medical genetics. Part A

Avec: Mary R Sy , Jaynee Chauhan , Katrina Prescott , Aliza Imam , Alison Kraus , Ana Beleza , Lee Salkeld , Saraswati Hosdurga , Michael Parker , Pradeep Vasudevan , Lily Islam , Himanshu Goel , Nicole Bain , Soo-Mi Park , Shehla Mohammed , Klaus Dieterich , Charles Coutton , Véronique Satre , Gaëlle Vieville , Alan Donaldson , Claire Beneteau , Jamal Ghoumid , Kris Van Den Bogaert , Anneleen Boogaerts , Elise Boudry , Clémence Vanlerberghe , Florence Petit , Laura Bernardini , Barbara Torres , Teresa Mattina , Diana Carli , Giorgia Mandrile , Michele Pinelli , Nicola Brunetti-Pierri , Katherine Neas , Rachel Beddow , Pernille M Tørring , Flavio Faletra , Beatrice Spedicati , Paolo Gasparini , Alessandro Mussa , Giovanni Battista Ferrero , Anne Lampe , Wayne Lam , Weimin Bi , Carlos A Bacino , Akela Kuwahara , Jeffrey O Bush , Xiaonan Zhao , Pamela N Luna , Chad A Shaw , Jill A Rosenfeld , Daryl A Scott

Réseau de co-auteurs

Katherine Neas 10 collaborations

Jill A Rosenfeld 4 collaborations

Xiaonan Zhao 3 collaborations

Chad A Shaw 3 collaborations

Daryl A Scott 3 collaborations

Gemma Poke 3 collaborations

Giovanni B Ferrero 2 collaborations

Alfredo Brusco 2 collaborations

Claire Beneteau 2 collaborations

Kris Van Den Bogaert 2 collaborations

Anneleen Boogaerts 2 collaborations

Laura Bernardini 2 collaborations

Pamela N Luna 2 collaborations

Alison Kraus 2 collaborations

Kathie J Ngo 2 collaborations

Brent L Fogel 2 collaborations

Carlos A Bacino 2 collaborations

Amy Hardcastle 1 collaboration

Aliska M Berry 1 collaboration

Ian M Campbell 1 collaboration

Pengfei Liu 1 collaboration

Amanda E Gerard 1 collaboration

Saumya D Sisoudiya 1 collaboration

Andres Hernandez-Garcia 1 collaboration

Sara Loddo 1 collaboration

Silvia Di Tommaso 1 collaboration

Antonio Novelli 1 collaboration

Maria L Dentici 1 collaboration

Rossella Capolino 1 collaboration

Maria C Digilio 1 collaboration

Ludovico Graziani 1 collaboration

Cecilie F Rustad 1 collaboration

Eleonora Di Gregorio 1 collaboration

Diana Wellesley 1 collaboration

Madeleine Joubert 1 collaboration

Dominic J McMullan 1 collaboration

John Dean 1 collaboration

Maria G Giuffrida 1 collaboration

Vinod Varghese 1 collaboration

Nora L Shannon 1 collaboration

Rachel E Harrison 1 collaboration

Wayne W K Lam 1 collaboration

Shane McKee 1 collaboration

Peter D Turnpenny 1 collaboration

Trevor Cole 1 collaboration

Jenny Morton 1 collaboration

Jacqueline Eason 1 collaboration

Marilyn C Jones 1 collaboration

Rebecca Hall 1 collaboration

Michael Wright 1 collaboration

Karen Horridge 1 collaboration

Wendy K Chung 1 collaboration

Emily A Huth 1 collaboration

Nichole Owen 1 collaboration

Ida Vogel 1 collaboration

Inger L H Dorf 1 collaboration

Shelagh Joss 1 collaboration

Jill Clayton-Smith 1 collaboration

Michael J Parker 1 collaboration

Jacoba J Louw 1 collaboration

Marc Gewillig 1 collaboration

Jeroen Breckpot 1 collaboration

Erina Sasaki 1 collaboration

Usha Kini 1 collaboration

Trent Burgess 1 collaboration

Tiong Y Tan 1 collaboration

Ruth Armstrong 1 collaboration

Wihelmina S Kerstjens-Frederikse 1 collaboration

Julia Rankin 1 collaboration

Lindsey R Helvaty 1 collaboration

Benjamin J Landis 1 collaboration

Gabrielle C Geddes 1 collaboration

Kim L McBride 1 collaboration

Stephanie M Ware 1 collaboration

Seema R Lalani 1 collaboration

Jessica E Rexach 1 collaboration

Hane Lee 1 collaboration

Lauren E Petty 1 collaboration

Susan Perlman 1 collaboration

Juliana M Valera 1 collaboration

Joshua L Deignan 1 collaboration

Yuanming Mao 1 collaboration

Mamdouh Aker 1 collaboration

Jennifer E Posey 1 collaboration

Shalini N Jhangiani 1 collaboration

Zeynep H Coban-Akdemir 1 collaboration

Eric Boerwinkle 1 collaboration

Donna Muzny 1 collaboration

Alexandra B Nelson 1 collaboration

Sharon Hassin-Baer 1 collaboration

Michael D Geschwind 1 collaboration

Wayne W Grody 1 collaboration

Richard Gibbs 1 collaboration

Daniel H Geschwind 1 collaboration

James R Lupski 1 collaboration

Jennifer E Below 1 collaboration

Stanley F Nelson 1 collaboration

Russell Gear 1 collaboration

Jacqui Finnigan 1 collaboration

Sharon Cassidy 1 collaboration

Deanna Forsyth 1 collaboration

Mo Blishen 1 collaboration

Diana Purvis 1 collaboration

Karen M Knapp 1 collaboration

Rebecca Luu 1 collaboration

Melissa Baerenfaenger 1 collaboration

Fokje Zijlstra 1 collaboration

Hans J C T Wessels 1 collaboration

Danielle Jenkins 1 collaboration

Dirk J Lefeber 1 collaboration

Louise S Bicknell 1 collaboration

Cynthia Rucinski 1 collaboration

Annika Winbo 1 collaboration

Luciana Marcondes 1 collaboration

Nikki Earle 1 collaboration

Martin Stiles 1 collaboration

Rachael Stiles 1 collaboration

Darren Hooks 1 collaboration

Ian Hayes 1 collaboration

Jackie Crawford 1 collaboration

Andrew Martin 1 collaboration

Jonathan R Skinner 1 collaboration

Chunmei Li 1 collaboration

Eliane Beauregard-Lacroix 1 collaboration

Christine Kondratev 1 collaboration

Justine Rousseau 1 collaboration

Ah Jung Heo 1 collaboration

Brett H Graham 1 collaboration

Matias Wagner 1 collaboration

Maren Wenzel 1 collaboration

Fuad Al Mutairi 1 collaboration

Hamad Al Deiab 1 collaboration

Joseph G Gleeson 1 collaboration

Valentina Stanley 1 collaboration

Maha S Zaki 1 collaboration

Yong Tae Kwon 1 collaboration

Michel R Leroux 1 collaboration

Philippe M Campeau 1 collaboration

Sandy Ayoub 1 collaboration

Neeti Ghali 1 collaboration

Chloe Angwin 1 collaboration

Duncan Baker 1 collaboration

Stella Baffini 1 collaboration

Angela F Brady 1 collaboration

Maria Luisa Giovannucci Uzielli 1 collaboration

Cecilia Giunta 1 collaboration

Diana S Johnson 1 collaboration

Tomoki Kosho 1 collaboration

F Michael Pope 1 collaboration

Frank Rutsch 1 collaboration

Gloria Scarselli 1 collaboration

Glenda Sobey 1 collaboration

Anthony Vandersteen 1 collaboration

Fleur S van Dijk 1 collaboration

Leigh B Waddell 1 collaboration

Samantha J Bryen 1 collaboration

Beryl B Cummings 1 collaboration

Adam Bournazos 1 collaboration

Frances J Evesson 1 collaboration

Himanshu Joshi 1 collaboration

Jamie L Marshall 1 collaboration

Taru Tukiainen 1 collaboration

Elise Valkanas 1 collaboration

Ben Weisburd 1 collaboration

Simon Sadedin 1 collaboration

Mark R Davis 1 collaboration

Fathimath Faiz 1 collaboration

Rebecca Gooding 1 collaboration

Sarah A Sandaradura 1 collaboration

Gina L O'Grady 1 collaboration

Michel C Tchan 1 collaboration

David R Mowat 1 collaboration

Emily C Oates 1 collaboration

Michelle A Farrar 1 collaboration

Hugo Sampaio 1 collaboration

Alan Ma 1 collaboration

Min-Xia Wang 1 collaboration

Amanda Charlton 1 collaboration

Charles Chan 1 collaboration

Diane N Kenwright 1 collaboration

Nicole Graf 1 collaboration

Susan Arbuckle 1 collaboration

Nigel F Clarke 1 collaboration

Daniel G MacArthur 1 collaboration

Kristi J Jones 1 collaboration

Monkol Lek 1 collaboration

Sandra T Cooper 1 collaboration

Mary R Sy 1 collaboration

Jaynee Chauhan 1 collaboration

Katrina Prescott 1 collaboration

Aliza Imam 1 collaboration

Ana Beleza 1 collaboration

Lee Salkeld 1 collaboration

Saraswati Hosdurga 1 collaboration

Michael Parker 1 collaboration

Pradeep Vasudevan 1 collaboration

Lily Islam 1 collaboration

Himanshu Goel 1 collaboration

Nicole Bain 1 collaboration

Soo-Mi Park 1 collaboration

Shehla Mohammed 1 collaboration

Klaus Dieterich 1 collaboration

Charles Coutton 1 collaboration

Véronique Satre 1 collaboration

Gaëlle Vieville 1 collaboration

Alan Donaldson 1 collaboration

Jamal Ghoumid 1 collaboration

Elise Boudry 1 collaboration

Clémence Vanlerberghe 1 collaboration

Florence Petit 1 collaboration

Barbara Torres 1 collaboration

Teresa Mattina 1 collaboration

Diana Carli 1 collaboration

Giorgia Mandrile 1 collaboration

Michele Pinelli 1 collaboration

Nicola Brunetti-Pierri 1 collaboration

Rachel Beddow 1 collaboration

Pernille M Tørring 1 collaboration

Flavio Faletra 1 collaboration

Beatrice Spedicati 1 collaboration

Paolo Gasparini 1 collaboration

Alessandro Mussa 1 collaboration

Giovanni Battista Ferrero 1 collaboration

Anne Lampe 1 collaboration

Wayne Lam 1 collaboration

Weimin Bi 1 collaboration

Akela Kuwahara 1 collaboration

Jeffrey O Bush 1 collaboration