Susan M Hiatt

Affiliations

HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.

Publications (6)

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

American journal of human genetics

Avec: Susan M Hiatt , Michelle L Thompson , Jeremy W Prokop , James M J Lawlor , David E Gray , E Martina Bebin , Tuula Rinne , Marlies Kempers , Rolph Pfundt , Bregje W van Bon , Cyril Mignot , Caroline Nava , Christel Depienne , Louisa Kalsner , Anita Rauch , Pascal Joset , Ruxandra Bachmann-Gagescu , Ingrid M Wentzensen , Kirsty McWalter , Gregory M Cooper

Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Stephanie A Felker , James M J Lawlor , Susan M Hiatt , Michelle L Thompson , Donald R Latner , Candice R Finnila , Kevin M Bowling , Zachary T Bonnstetter , Katherine E Bonini , Nicole R Kelly , Whitley V Kelley , Anna C E Hurst , Salman Rashid , Melissa A Kelly , Ghunwa Nakouzi , Laura G Hendon , E Martina Bebin , Eimear E Kenny , Gregory M Cooper

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.

American journal of human genetics

Avec: Norine Voisin , Rhonda E Schnur , Sofia Douzgou , Susan M Hiatt , Cecilie F Rustad , Natasha J Brown , Dawn L Earl , Boris Keren , Olga Levchenko , Sinje Geuer , Sarah Verheyen , Diana Johnson , Yuri A Zarate , Miroslava Hančárová , David J Amor , E Martina Bebin , Jasmin Blatterer , Alfredo Brusco , Gerarda Cappuccio , Joel Charrow , Nicolas Chatron , Gregory M Cooper , Thomas Courtin , Elena Dadali , Julien Delafontaine , Ennio Del Giudice , Martine Doco , Ganka Douglas , Astrid Eisenkölbl , Tara Funari , Giuliana Giannuzzi , Ursula Gruber-Sedlmayr , Nicolas Guex , Delphine Heron , Øystein L Holla , Anna C E Hurst , Jane Juusola , David Kronn , Alexander Lavrov , Crystle Lee , Séverine Lorrain , Else Merckoll , Anna Mikhaleva , Jennifer Norman , Sylvain Pradervand , Darina Prchalová , Lindsay Rhodes , Victoria R Sanders , Zdeněk Sedláček , Heidelis A Seebacher , Elizabeth A Sellars , Fabio Sirchia , Toshiki Takenouchi , Akemi J Tanaka , Heidi Taska-Tench , Elin Tønne , Kristian Tveten , Giuseppina Vitiello , Markéta Vlčková , Tomoko Uehara , Caroline Nava , Binnaz Yalcin , Kenjiro Kosaki , Dian Donnai , Stefan Mundlos , Nicola Brunetti-Pierri , Wendy K Chung , Alexandre Reymond

Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders.

Genome research

Avec: Susan M Hiatt , James Mj Lawlor , Lori H Handley , Donald R Latner , Zachary T Bonnstetter , Candice R Finnila , Michelle L Thompson , Lori Beth Boston , Melissa Williams , Ivan Rodriguez-Nunez , Jerry Jenkins , Whitley V Kelley , E Martina Bebin , Michael A Lopez , Anna Ce Hurst , Bruce R Korf , Jeremy Schmutz , Jane Grimwood , Gregory M Cooper

Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders.

HGG advances

Avec: Susan M Hiatt , James M J Lawlor , Lori H Handley , Ryne C Ramaker , Brianne B Rogers , E Christopher Partridge , Lori Beth Boston , Melissa Williams , Christopher B Plott , Jerry Jenkins , David E Gray , James M Holt , Kevin M Bowling , E Martina Bebin , Jane Grimwood , Jeremy Schmutz , Gregory M Cooper

BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder.

Human mutation

Avec: Tiana M Scott , Hui Guo , Evan E Eichler , Jill A Rosenfeld , Kaifang Pang , Zhandong Liu , Seema Lalani , Weimin Bi , Yaping Yang , Carlos A Bacino , Haley Streff , Andrea M Lewis , Mary K Koenig , Isabelle Thiffault , Allison Bellomo , David B Everman , Julie R Jones , Roger E Stevenson , Raphael Bernier , Christian Gilissen , Rolph Pfundt , Susan M Hiatt , Gregory M Cooper , Jimmy L Holder , Daryl A Scott

Réseau de co-auteurs

Gregory M Cooper 6 collaborations

E Martina Bebin 5 collaborations

Michelle L Thompson 3 collaborations

James M J Lawlor 3 collaborations

David E Gray 2 collaborations

Rolph Pfundt 2 collaborations

Caroline Nava 2 collaborations

Donald R Latner 2 collaborations

Candice R Finnila 2 collaborations

Kevin M Bowling 2 collaborations

Zachary T Bonnstetter 2 collaborations

Whitley V Kelley 2 collaborations

Anna C E Hurst 2 collaborations

Lori H Handley 2 collaborations

Lori Beth Boston 2 collaborations

Melissa Williams 2 collaborations

Jerry Jenkins 2 collaborations

Jeremy Schmutz 2 collaborations

Jane Grimwood 2 collaborations

Jeremy W Prokop 1 collaboration

Tuula Rinne 1 collaboration

Marlies Kempers 1 collaboration

Bregje W van Bon 1 collaboration

Cyril Mignot 1 collaboration

Christel Depienne 1 collaboration

Louisa Kalsner 1 collaboration

Anita Rauch 1 collaboration

Pascal Joset 1 collaboration

Ruxandra Bachmann-Gagescu 1 collaboration

Ingrid M Wentzensen 1 collaboration

Kirsty McWalter 1 collaboration

Stephanie A Felker 1 collaboration

Katherine E Bonini 1 collaboration

Nicole R Kelly 1 collaboration

Salman Rashid 1 collaboration

Melissa A Kelly 1 collaboration

Ghunwa Nakouzi 1 collaboration

Laura G Hendon 1 collaboration

Eimear E Kenny 1 collaboration

Norine Voisin 1 collaboration

Rhonda E Schnur 1 collaboration

Sofia Douzgou 1 collaboration

Cecilie F Rustad 1 collaboration

Natasha J Brown 1 collaboration

Dawn L Earl 1 collaboration

Boris Keren 1 collaboration

Olga Levchenko 1 collaboration

Sinje Geuer 1 collaboration

Sarah Verheyen 1 collaboration

Diana Johnson 1 collaboration

Yuri A Zarate 1 collaboration

Miroslava Hančárová 1 collaboration

David J Amor 1 collaboration

Jasmin Blatterer 1 collaboration

Alfredo Brusco 1 collaboration

Gerarda Cappuccio 1 collaboration

Joel Charrow 1 collaboration

Nicolas Chatron 1 collaboration

Thomas Courtin 1 collaboration

Elena Dadali 1 collaboration

Julien Delafontaine 1 collaboration

Ennio Del Giudice 1 collaboration

Martine Doco 1 collaboration

Ganka Douglas 1 collaboration

Astrid Eisenkölbl 1 collaboration

Tara Funari 1 collaboration

Giuliana Giannuzzi 1 collaboration

Ursula Gruber-Sedlmayr 1 collaboration

Nicolas Guex 1 collaboration

Delphine Heron 1 collaboration

Øystein L Holla 1 collaboration

Jane Juusola 1 collaboration

David Kronn 1 collaboration

Alexander Lavrov 1 collaboration

Crystle Lee 1 collaboration

Séverine Lorrain 1 collaboration

Else Merckoll 1 collaboration

Anna Mikhaleva 1 collaboration

Jennifer Norman 1 collaboration

Sylvain Pradervand 1 collaboration

Darina Prchalová 1 collaboration

Lindsay Rhodes 1 collaboration

Victoria R Sanders 1 collaboration

Zdeněk Sedláček 1 collaboration

Heidelis A Seebacher 1 collaboration

Elizabeth A Sellars 1 collaboration

Fabio Sirchia 1 collaboration

Toshiki Takenouchi 1 collaboration

Akemi J Tanaka 1 collaboration

Heidi Taska-Tench 1 collaboration

Elin Tønne 1 collaboration

Kristian Tveten 1 collaboration

Giuseppina Vitiello 1 collaboration

Markéta Vlčková 1 collaboration

Tomoko Uehara 1 collaboration

Binnaz Yalcin 1 collaboration

Kenjiro Kosaki 1 collaboration

Dian Donnai 1 collaboration

Stefan Mundlos 1 collaboration

Nicola Brunetti-Pierri 1 collaboration

Wendy K Chung 1 collaboration

Alexandre Reymond 1 collaboration

James Mj Lawlor 1 collaboration

Ivan Rodriguez-Nunez 1 collaboration

Michael A Lopez 1 collaboration

Anna Ce Hurst 1 collaboration

Bruce R Korf 1 collaboration

Ryne C Ramaker 1 collaboration

Brianne B Rogers 1 collaboration

E Christopher Partridge 1 collaboration

Christopher B Plott 1 collaboration

James M Holt 1 collaboration

Tiana M Scott 1 collaboration

Hui Guo 1 collaboration

Evan E Eichler 1 collaboration

Jill A Rosenfeld 1 collaboration

Kaifang Pang 1 collaboration

Zhandong Liu 1 collaboration

Seema Lalani 1 collaboration

Weimin Bi 1 collaboration

Yaping Yang 1 collaboration

Carlos A Bacino 1 collaboration

Haley Streff 1 collaboration

Andrea M Lewis 1 collaboration

Mary K Koenig 1 collaboration

Isabelle Thiffault 1 collaboration

Allison Bellomo 1 collaboration

David B Everman 1 collaboration

Julie R Jones 1 collaboration

Roger E Stevenson 1 collaboration

Raphael Bernier 1 collaboration

Christian Gilissen 1 collaboration

Jimmy L Holder 1 collaboration

Daryl A Scott 1 collaboration