Ugur Hodoglugil

Affiliations

Institute for Human Genetics, University of California, San Francisco, San Francisco, CA, USA.

Publications (10)

A missense variant, p.(Ile269Asn), in MC4R as a secondary finding in a child with BCL11A-related intellectual disability.

European journal of medical genetics

Avec: Daniah T Beleford , Jessica Van Ziffle , Anne M Slavotinek

Genetic ancestry and diagnostic yield of exome sequencing in a diverse population.

NPJ genomic medicine

Avec: Yusuph Mavura , Nuriye Sahin-Hodoglugil , Mark Kvale , Pierre-Marie Martin , Jessica Van Ziffle , W Patrick Devine , Sara L Ackerman , Barbara A Koenig , Pui-Yan Kwok , Mary E Norton , Anne Slavotinek , Neil Risch

The utility of pathologic examination and comprehensive phenotyping for accurate diagnosis with perinatal exome sequencing.

Prenatal diagnosis

Avec: Kate Swanson , Mary E Norton , Billie R Lianoglou , Angie C Jelin , Jessica Van Ziffle , Patrick Devine , Teresa N Sparks

Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.

NPJ genomic medicine

Avec: Anne Slavotinek , Shannon Rego , Nuriye Sahin-Hodoglugil , Mark Kvale , Billie Lianoglou , Tiffany Yip , Hannah Hoban , Simon Outram , Beatrice Anguiano , Flavia Chen , Jeremy Michelson , Roberta M Cilio , Cynthia Curry , Renata C Gallagher , Marisa Gardner , Rachel Kuperman , Bryce Mendelsohn , Elliott Sherr , Joseph Shieh , Jonathan Strober , Allison Tam , Jessica Tenney , William Weiss , Amy Whittle , Garrett Chin , Amanda Faubel , Hannah Prasad , Yusuph Mavura , Jessica Van Ziffle , W Patrick Devine , Pierre-Marie Martin , Teresa N Sparks , Barbara Koenig , Sara Ackerman , Neil Risch , Pui-Yan Kwok , Mary E Norton

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.

American journal of human genetics

Avec: Maya Chopra , Meriel McEntagart , Jill Clayton-Smith , Konrad Platzer , Anju Shukla , Katta M Girisha , Anupriya Kaur , Parneet Kaur , Rolph Pfundt , Hermine Veenstra-Knol , Grazia M S Mancini , Gerarda Cappuccio , Nicola Brunetti-Pierri , Fanny Kortüm , Maja Hempel , Jonas Denecke , Anna Lehman , Auteur inconnu , Tjitske Kleefstra , Kyra E Stuurman , Martina Wilke , Michelle L Thompson , E Martina Bebin , Emilia K Bijlsma , Mariette J V Hoffer , Cacha Peeters-Scholte , Anne Slavotinek , William A Weiss , Tiffany Yip , Amy Whittle , Janette diMonda , Juanita Neira , Sandra Yang , Amelia Kirby , Hailey Pinz , Rosan Lechner , Frank Sleutels , Ingo Helbig , Sarah McKeown , Katherine Helbig , Rebecca Willaert , Jane Juusola , Jennifer Semotok , Medard Hadonou , John Short , Auteur inconnu , Naomi Yachelevich , Sajel Lala , Alberto Fernández-Jaen , Janvier Porta Pelayo , Chiara Klöckner , Susanne B Kamphausen , Rami Abou Jamra , Maria Arelin , A Micheil Innes , Anni Niskakoski , Sam Amin , Maggie Williams , Julie Evans , Sarah Smithson , Damian Smedley , Anna de Burca , Usha Kini , Martin B Delatycki , Lyndon Gallacher , Alison Yeung , Lynn Pais , Michael Field , Ellenore Martin , Perrine Charles , Thomas Courtin , Boris Keren , Maria Iascone , Anna Cereda , Gemma Poke , Véronique Abadie , Christel Chalouhi , Padmini Parthasarathy , Benjamin J Halliday , Stephen P Robertson , Stanislas Lyonnet , Jeanne Amiel , Christopher T Gordon

TRAPPC9-related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomy.

American journal of medical genetics. Part A

Avec: Monica Penon-Portmann , Wiita Arun P , Tiffany Yip , Anne Slavotinek , Jessica L Tenney

Diagnostic Yield of Exome Sequencing in a Diverse Pediatric and Prenatal Population is not Associated with Genetic Ancestry.

medRxiv : the preprint server for health sciences

Avec: Yusuph Mavura , Nuriye Sahin-Hodoglugil , Mark Kvale , Pierre-Marie Martin , Jessica Van Ziffle , W Patrick Devine , Sara L Ackerman , Barbara A Koenig , Pui-Yan Kwok , Mary E Norton , Anne Slavotinek , Neil Risch

Third case of Bardet-Biedl syndrome caused by a biallelic variant predicted to affect splicing of IFT74.

Clinical genetics

Avec: Anne H Mardy , Tiffany Yip , Anne M Slavotinek

Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis.

The New England journal of medicine

Avec: Teresa N Sparks , Billie R Lianoglou , Rebecca R Adami , Ilina D Pluym , Kerry Holliman , Jennifer Duffy , Sarah L Downum , Sachi Patel , Amanda Faubel , Nina M Boe , Nancy T Field , Aisling Murphy , Louise C Laurent , Jennifer Jolley , Cherry Uy , Anne M Slavotinek , Patrick Devine , Jessica Van Ziffle , Stephan J Sanders , Tippi C MacKenzie , Mary E Norton , Auteur inconnu , Auteur inconnu

Exome sequencing vs targeted gene panels for the evaluation of nonimmune hydrops fetalis.

American journal of obstetrics and gynecology

Avec: Mary E Norton , Jessica Van Ziffle , Billie R Lianoglou , W Patrick Devine , Teresa N Sparks

Réseau de co-auteurs

Jessica Van Ziffle 7 collaborations

Mary E Norton 6 collaborations

Anne Slavotinek 5 collaborations

W Patrick Devine 4 collaborations

Teresa N Sparks 4 collaborations

Tiffany Yip 4 collaborations

None None 4 collaborations

Anne M Slavotinek 3 collaborations

Yusuph Mavura 3 collaborations

Nuriye Sahin-Hodoglugil 3 collaborations

Mark Kvale 3 collaborations

Pierre-Marie Martin 3 collaborations

Pui-Yan Kwok 3 collaborations

Neil Risch 3 collaborations

Billie R Lianoglou 3 collaborations

Sara L Ackerman 2 collaborations

Barbara A Koenig 2 collaborations

Patrick Devine 2 collaborations

Amy Whittle 2 collaborations

Amanda Faubel 2 collaborations

Daniah T Beleford 1 collaboration

Kate Swanson 1 collaboration

Angie C Jelin 1 collaboration

Shannon Rego 1 collaboration

Billie Lianoglou 1 collaboration

Hannah Hoban 1 collaboration

Simon Outram 1 collaboration

Beatrice Anguiano 1 collaboration

Flavia Chen 1 collaboration

Jeremy Michelson 1 collaboration

Roberta M Cilio 1 collaboration

Cynthia Curry 1 collaboration

Renata C Gallagher 1 collaboration

Marisa Gardner 1 collaboration

Rachel Kuperman 1 collaboration

Bryce Mendelsohn 1 collaboration

Elliott Sherr 1 collaboration

Joseph Shieh 1 collaboration

Jonathan Strober 1 collaboration

Allison Tam 1 collaboration

Jessica Tenney 1 collaboration

William Weiss 1 collaboration

Garrett Chin 1 collaboration

Hannah Prasad 1 collaboration

Barbara Koenig 1 collaboration

Sara Ackerman 1 collaboration

Maya Chopra 1 collaboration

Meriel McEntagart 1 collaboration

Jill Clayton-Smith 1 collaboration

Konrad Platzer 1 collaboration

Anju Shukla 1 collaboration

Katta M Girisha 1 collaboration

Anupriya Kaur 1 collaboration

Parneet Kaur 1 collaboration

Rolph Pfundt 1 collaboration

Hermine Veenstra-Knol 1 collaboration

Grazia M S Mancini 1 collaboration

Gerarda Cappuccio 1 collaboration

Nicola Brunetti-Pierri 1 collaboration

Fanny Kortüm 1 collaboration

Maja Hempel 1 collaboration

Jonas Denecke 1 collaboration

Anna Lehman 1 collaboration

Tjitske Kleefstra 1 collaboration

Kyra E Stuurman 1 collaboration

Martina Wilke 1 collaboration

Michelle L Thompson 1 collaboration

E Martina Bebin 1 collaboration

Emilia K Bijlsma 1 collaboration

Mariette J V Hoffer 1 collaboration

Cacha Peeters-Scholte 1 collaboration

William A Weiss 1 collaboration

Janette diMonda 1 collaboration

Juanita Neira 1 collaboration

Sandra Yang 1 collaboration

Amelia Kirby 1 collaboration

Hailey Pinz 1 collaboration

Rosan Lechner 1 collaboration

Frank Sleutels 1 collaboration

Ingo Helbig 1 collaboration

Sarah McKeown 1 collaboration

Katherine Helbig 1 collaboration

Rebecca Willaert 1 collaboration

Jane Juusola 1 collaboration

Jennifer Semotok 1 collaboration

Medard Hadonou 1 collaboration

John Short 1 collaboration

Naomi Yachelevich 1 collaboration

Sajel Lala 1 collaboration

Alberto Fernández-Jaen 1 collaboration

Janvier Porta Pelayo 1 collaboration

Chiara Klöckner 1 collaboration

Susanne B Kamphausen 1 collaboration

Rami Abou Jamra 1 collaboration

Maria Arelin 1 collaboration

A Micheil Innes 1 collaboration

Anni Niskakoski 1 collaboration

Sam Amin 1 collaboration

Maggie Williams 1 collaboration

Julie Evans 1 collaboration

Sarah Smithson 1 collaboration

Damian Smedley 1 collaboration

Anna de Burca 1 collaboration

Usha Kini 1 collaboration

Martin B Delatycki 1 collaboration

Lyndon Gallacher 1 collaboration

Alison Yeung 1 collaboration

Lynn Pais 1 collaboration

Michael Field 1 collaboration

Ellenore Martin 1 collaboration

Perrine Charles 1 collaboration

Thomas Courtin 1 collaboration

Boris Keren 1 collaboration

Maria Iascone 1 collaboration

Anna Cereda 1 collaboration

Gemma Poke 1 collaboration

Véronique Abadie 1 collaboration

Christel Chalouhi 1 collaboration

Padmini Parthasarathy 1 collaboration

Benjamin J Halliday 1 collaboration

Stephen P Robertson 1 collaboration

Stanislas Lyonnet 1 collaboration

Jeanne Amiel 1 collaboration

Christopher T Gordon 1 collaboration

Monica Penon-Portmann 1 collaboration

Wiita Arun P 1 collaboration

Jessica L Tenney 1 collaboration

Anne H Mardy 1 collaboration

Rebecca R Adami 1 collaboration

Ilina D Pluym 1 collaboration

Kerry Holliman 1 collaboration

Jennifer Duffy 1 collaboration

Sarah L Downum 1 collaboration

Sachi Patel 1 collaboration

Nina M Boe 1 collaboration

Nancy T Field 1 collaboration

Aisling Murphy 1 collaboration

Louise C Laurent 1 collaboration

Jennifer Jolley 1 collaboration

Cherry Uy 1 collaboration

Stephan J Sanders 1 collaboration

Tippi C MacKenzie 1 collaboration