David Chitayat

Affiliations

The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, M5G 1X5, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, M5G 1X8, Canada.

Publications (88)

Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.

American journal of human genetics

Avec: Joel J Hughes , Ebba Alkhunaizi , Paul Kruszka , Louise C Pyle , Dorothy K Grange , Seth I Berger , Katelyn K Payne , Diane Masser-Frye , Tommy Hu , Michelle R Christie , Nancy J Clegg , Joshua L Everson , Ariel F Martinez , Laurence E Walsh , Emma Bedoukian , Marilyn C Jones , Catharine Jean Harris , Korbinian M Riedhammer , Daniela Choukair , Patricia Y Fechner , Meilan M Rutter , Sophia B Hufnagel , Maian Roifman , Gad B Kletter , Emmanuele Delot , Eric Vilain , Robert J Lipinski , Chad M Vezina , Maximilian Muenke , David Chitayat

Fetal Meconium Peritonitis - Prenatal Findings and Postnatal Outcome: A Case Series, Systematic Review, and Meta-Analysis.

Ultraschall in der Medizin (Stuttgart, Germany : 1980)

Avec: Shiri Shinar , Swati Agrawal , Michelle Ryu , Tim Van Mieghem , Alan Daneman , Greg Ryan , Augusto Zani , Priscilla Chiu , David Chitayat

Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders.

Human mutation

Avec: Fatima Abdelfattah , Ariana Kariminejad , Anne-Karin Kahlert , Patrick J Morrison , Evren Gumus , Katherine D Mathews , Benjamin W Darbro , David J Amor , Maie Walsh , Yves Sznajer , Luisa Weiß , Sabine Weidensee , David Chitayat , Patrick Shannon , Eva Bermejo-Sánchez , Isolina Riaño-Galán , Ian Hayes , Gemma Poke , Caroline Rooryck , Perrine Pennamen , Suonavy Khung-Savatovsky , Annick Toutain , Marie-Laure Vuillaume , Siavash Ghaderi-Sohi , Mohamad H Kariminejad , Sönke Weinert , Heinrich Sticht , Martin Zenker , Denny Schanze

Correction. Reproductive Safety of Second-Generation Antipsychotics: Updated Data From the Massachusetts General Hospital National Pregnancy Registry for Atypical Antipsychotics.

The Journal of clinical psychiatry

Avec: Adele C Viguera , Marlene P Freeman , Lina Góez-Mogollón , Alexandra Z Sosinsky , Sara A McElheny , Taylor R Church , Amanda V Young , Phoebe S Caplin , David Chitayat , Sonia Hernández-Díaz , Lee S Cohen

The point-of-care use of a facial phenotyping tool in the genetics clinic: Enhancing diagnosis and education with machine learning.

American journal of medical genetics. Part A

Avec: Ashish Marwaha , David Chitayat , M Stephen Meyn , Roberto Mendoza-Londono , Lauren Chad

Role of comprehensive cytogenomic investigation in successful reproductive outcome of parental small neocentromeric supernumerary ring chromosome: A case report.

Clinical case reports

Avec: Yiming Wang , Joanna Lazier , Diane Myles-Reid , Abdul Noor , David Chitayat , Elena Greenfeld

Fetal akinesia deformation sequence syndrome associated with recessive TTN variants.

American journal of medical genetics. Part A

Avec: Ebba Alkhunaizi , Nicole Martin , Angie C Jelin , Mara Rosner , Diana J Bailey , Laurie A Steiner , Saquib Lakhani , Weizhen Ji , Philip J Katzman , Katherine R Forster , Olga Jarinova , Patrick Shannon , David Chitayat , Auteur inconnu

De novo triplication at 1p36.23p36.22 further refines the dosage sensitive region of overlap in Setleis syndrome (focal facial dermal dysplasia type III).

American journal of medical genetics. Part A

Avec: Rachel Youjin Oh , Kathy Chun , Paul E Kowalski , David Chitayat

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.

American journal of medical genetics. Part A

Avec: Maninder Kaur , Justin Blair , Batsal Devkota , Sierra Fortunato , Dinah Clark , Audrey Lawrence , Jiwoo Kim , Wonwook Do , Benjamin Semeo , Olivia Katz , Devanshi Mehta , Nobuko Yamamoto , Emma Schindler , Zayd Al Rawi , Nina Wallace , Jonathan J Wilde , Jennifer McCallum , Jinglan Liu , Dongbin Xu , Marie Jackson , Stefan Rentas , Ahmad Abou Tayoun , Zhang Zhe , Omar Abdul-Rahman , Bill Allen , Moris A Angula , Kwame Anyane-Yeboa , Jesús Argente , Pamela H Arn , Linlea Armstrong , Lina Basel-Salmon , Gareth Baynam , Lynne M Bird , Daniel Bruegger , Gaik-Siew Ch'ng , David Chitayat , Robin Clark , Gerald F Cox , Usha Dave , Elfrede DeBaere , Michael Field , John M Graham , Karen W Gripp , Robert Greenstein , Neerja Gupta , Randy Heidenreich , Jodi Hoffman , Robert J Hopkin , Kenneth L Jones , Marilyn C Jones , Ariana Kariminejad , Jillene Kogan , Baiba Lace , Julian Leroy , Sally Ann Lynch , Marie McDonald , Kirsten Meagher , Nancy Mendelsohn , Ieva Micule , John Moeschler , Sheela Nampoothiri , Kaoru Ohashi , Cynthia M Powell , Subhadra Ramanathan , Salmo Raskin , Elizabeth Roeder , Marlene Rio , Alan F Rope , Karan Sangha , Angela E Scheuerle , Adele Schneider , Stavit Shalev , Victoria Siu , Rosemarie Smith , Cathy Stevens , Tinatin Tkemaladze , John Toimie , Helga Toriello , Anne Turner , Patricia G Wheeler , Susan M White , Terri Young , Kathleen M Loomes , Mary Pipan , Ann Tokay Harrington , Elaine Zackai , Ramakrishnan Rajagopalan , Laura Conlin , Matthew A Deardorff , Deborah McEldrew , Juan Pie , Feliciano Ramos , Antonio Musio , Antonie D Kline , Kosuke Izumi , Sarah E Raible , Ian D Krantz

Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.

European journal of human genetics : EJHG

Avec: Kaitlin J Stanley , Kelsey J Kalbfleisch , Olivia M Moran , Rajiv R Chaturvedi , Maian Roifman , Xin Chen , Roozbeh Manshaei , Nicole Martin , Simina McDermott , Vanda McNiven , Diane Myles-Reid , Lynne E Nield , Miriam S Reuter , Marci L B Schwartz , Patrick Shannon , Rachel Silver , Cherith Somerville , Ronni Teitelbaum , Laura Zahavich , Anne S Bassett , Raymond H Kim , Seema Mital , David Chitayat , Rebekah K Jobling

The role of digital tools in the delivery of genomic medicine: enhancing patient-centered care.

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

Avec: Salma Shickh , Sara A Rafferty , Marc Clausen , Rita Kodida , Chloe Mighton , Seema Panchal , Justin Lorentz , Thomas Ward , Nicholas Watkins , Christine Elser , Andrea Eisen , June C Carroll , Emily Glogowski , Kasmintan A Schrader , Jordan Lerner-Ellis , Raymond H Kim , David Chitayat , Cheryl Shuman , Yvonne Bombard , Auteur inconnu

Brain and Placental Pathology in Fetal COL4A1 Related Disease.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society

Avec: Patrick Shannon , Courtney Hum , Tony Parks , G M Schauer , David Chitayat , Karen Chong , Shiri Shinar , Susan Blaser , Gaea Moore , Tim Van Mieghem

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.

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

Avec: Christine Shieh , Natasha Jones , Brigitte Vanle , Margaret Au , Alden Y Huang , Ana P G Silva , Hane Lee , Emilie D Douine , Maria G Otero , Andrew Choi , Katheryn Grand , Ingrid P Taff , Mauricio R Delgado , M J Hajianpour , Andrea Seeley , Luis Rohena , Hilary Vernon , Karen W Gripp , Samantha A Vergano , Sonal Mahida , Sakkubai Naidu , Ana Berta Sousa , Karen E Wain , Thomas D Challman , Geoffrey Beek , Donald Basel , Judith Ranells , Rosemarie Smith , Roman Yusupov , Mary-Louise Freckmann , Lisa Ohden , Laura Davis-Keppen , David Chitayat , James J Dowling , Richard Finkel , Andrew Dauber , Rebecca Spillmann , Loren D M Pena , Auteur inconnu , Kay Metcalfe , Miranda Splitt , Katherine Lachlan , Shane A McKee , Jane Hurst , David R Fitzpatrick , Jenny E V Morton , Helen Cox , Sunita Venkateswaran , Juan I Young , Eric D Marsh , Stanley F Nelson , Julian A Martinez , John M Graham , Usha Kini , Joel P Mackay , Tyler Mark Pierson

Congenital hypothyroidism, cardiac defects, and pancreatic agenesis in an infant with GATA6 mutation.

American journal of medical genetics. Part A

Avec: Nikhil Raghuram , Ashish Marwaha , Mary-Louise C Greer , Estelle Gauda , David Chitayat

Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists.

Journal of medical genetics

Avec: Joanna Lazier , Taila Hartley , Jo-Ann Brock , Oana Caluseriu , David Chitayat , Anne-Marie Laberge , Sylvie Langlois , Julie Lauzon , Tanya N Nelson , Jillian Parboosingh , Dimitri J Stavropoulos , Kym Boycott , Christine M Armour , Auteur inconnu

Gene therapy: perspectives from young adults with Leber's congenital amaurosis.

Eye (London, England)

Avec: Melanie P Napier , Kavin Selvan , Robin Z Hayeems , Cheryl Shuman , David Chitayat , Joanne E Sutherland , Megan A Day , Elise Héon

Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with

Journal of medical genetics

Avec: Katalin Szakszon , Charles Marques Lourenco , Bert Louis Callewaert , David Geneviève , Flavien Rouxel , Denis Morin , Anne-Sophie Denommé-Pichon , Antonio Vitobello , Wesley G Patterson , Raymond Louie , Filippo Pinto E Vairo , Eric Klee , Charu Kaiwar , Ralitza H Gavrilova , Katherine E Agre , Sebastien Jacquemont , Jizi Khadijé , Jacques Giltay , Koen van Gassen , Gabriella Merő , Erica Gerkes , Bregje W Van Bon , Tuula Rinne , Rolph Pfundt , Han G Brunner , Oana Caluseriu , Ute Grasshoff , Martin Kehrer , Tobias B Haack , Melik Malek Khelifa , Anke Katharina Bergmann , Anna Maria Cueto-González , Ariadna Campos Martorell , Shwetha Ramachandrappa , Lindsey B Sawyer , Pascale Fasel , Dominique Braun , Atallah Isis , Andrea Superti-Furga , Vanda McNiven , David Chitayat , Syed Anas Ahmed , Heiko Brennenstuhl , Eva Mc Schwaibolf , Gladys Battisti , Benoit Parmentier , Servi J C Stevens

Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.

Brain : a journal of neurology

Avec: Ashish R Deshwar , Cheryl Cytrynbaum , Harsha Murthy , Jessica Zon , David Chitayat , Jonathan Volpatti , Ruth Newbury-Ecob , Sian Ellard , Hana Lango Allen , Emily P Yu , Ramil Noche , Suzi Walker , Stephen W Scherer , Sonal Mahida , Christopher M Elitt , Gaël Nicolas , Alice Goldenberg , Pascale Saugier-Veber , Francois Lecoquierre , Ivana Dabaj , Hannah Meddaugh , Michael Marble , Kim M Keppler-Noreuil , Lucy Drayson , Kristin W Barañano , Anna Chassevent , Katie Agre , Pascaline Létard , Frederic Bilan , Gwenaël Le Guyader , Annie Laquerrière , Keri Ramsey , Lindsay Henderson , Lauren Brady , Mark Tarnopolsky , Matthew Bainbridge , Jennifer Friedman , Yline Capri , Larissa Athayde , Fernando Kok , Juliana Gurgel-Giannetti , Luiza L P Ramos , Susan Blaser , James J Dowling , Rosanna Weksberg

Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series.

Prenatal diagnosis

Avec: Bobby K Brar , Marisa Gilstrop Thompson , Neeta L Vora , Kelly Gilmore , Karin Blakemore , Kristen A Miller , Jessica Giordano , Andreas Dufke , Beatrix Wong , Samantha Stover , Billie Lianoglou , Ignatia Van den Veyver , Esther Dempsey , Mara Rosner , Karen Chong , David Chitayat , Teresa N Sparks , Mary E Norton , Ronald Wapner , Kristin Baranano , Angie C Jelin , Auteur inconnu

Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy.

American journal of medical genetics. Part A

Avec: Sarah C Harris , Karen Chong , David Chitayat , Kelly L Gilmore , Alexander A L Jorge , Bruna L Freire , Antonio Lerario , Patrick Shannon , Heidi Cope , William B Gallentine , Gwenal Le Guyader , Frederic Bilan , Pascaline Létard , Erica E Davis , Neeta L Vora

Parental Preferences for Expanded Newborn Screening: What Are the Limits?

Children (Basel, Switzerland)

Avec: Nicole S Y Liang , Abby Watts-Dickens , David Chitayat , Riyana Babul-Hirji , Pranesh Chakraborty , Robin Z Hayeems

Lung hypoplasia in Fetuses with Skeletal Dysplasia Determined by Fetal Lung Weight. Which Ultrasound Measurement/Ratio Has the Highest Detection Rate.

Fetal diagnosis and therapy

Avec: Eran Ashwal , Jonathan Sgro , Patrick Shannon , Karen Chong , Phyllis Glanc , David Chitayat

Validation of low-pass genome sequencing for prenatal diagnosis.

Prenatal diagnosis

Avec: Chloe Mighton , Abdul Noor , Nicholas Watkins , Vanessa Di Gioacchino , Jordan Lerner-Ellis , Andrew Wong , Elvira Mukharryamova , Nina Anggala , David Chitayat , Elena Greenfeld

A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.

The Journal of clinical investigation

Avec: Justin O Szot , Hartmut Cuny , Ella Mma Martin , Delicia Z Sheng , Kavitha Iyer , Stephanie Portelli , Vivien Nguyen , Jessica M Gereis , Dimuthu Alankarage , David Chitayat , Karen Chong , Ingrid M Wentzensen , Catherine Vincent-Delormé , Alban Lermine , Emma Burkitt-Wright , Weizhen Ji , Lauren Jeffries , Lynn S Pais , Tiong Y Tan , James Pitt , Cheryl A Wise , Helen Wright , Israel D Andrews , Brianna Pruniski , Theresa A Grebe , Nicole Corsten-Janssen , Katelijne Bouman , Cathryn Poulton , Supraja Prakash , Boris Keren , Natasha J Brown , Matthew F Hunter , Oliver Heath , Saquib A Lakhani , John H McDermott , David B Ascher , Gavin Chapman , Kayleigh Bozon , Sally L Dunwoodie

Maternal SLE and brachytelephalangic chondrodysplasia punctata in a patient with unrelated de novo RAF1 and SIX2 variants.

American journal of medical genetics. Part A

Avec: Ebba Alkhunaizi , Sharon Unger , Patrick Shannon , Gen Nishimura , Susan Blaser , David Chitayat

Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.

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

Impact of introduction of noninvasive prenatal testing on uptake of genetic testing in fetuses with central nervous system anomalies.

Prenatal diagnosis

Avec: Samar Al Toukhi , David Chitayat , Johannes Keunen , Maian Roifman , Gareth Seaward , Rory Windrim , Greg Ryan , Tim Van Mieghem

Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.

Human molecular genetics

Avec: Marie Alice Dupont , Camille Humbert , Céline Huber , Quentin Siour , Ida Chiara Guerrera , Vincent Jung , Anni Christensen , Aurore Pouliet , Meriem Garfa-Traoré , Patrick Nitschké , Marie Injeyan , Kathryn Millar , David Chitayat , Patrick Shannon , Katta Mohan Girisha , Anju Shukla , Charlotte Mechler , Esben Lorentzen , Alexandre Benmerah , Valérie Cormier-Daire , Cécile Jeanpierre , Sophie Saunier , Marion Delous

"A change in perspective": Exploring the experiences of adolescents with hereditary tumor predisposition.

Pediatric blood & cancer

Avec: Evan Weber , Cheryl Shuman , Jonathan D Wasserman , Maru Barrera , Andrea F Patenaude , Karen Fung , David Chitayat , David Malkin , Harriet Druker

Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study.

Journal of medical genetics

Avec: Salma Shickh , Mariana Gutierrez Salazar , Kathleen-Rose Zakoor , Conxi Lázaro , Jessica Gu , Jamie Goltz , Dakota Kleinman , Abdul Noor , Sam Khalouei , Chloe Mighton , Emma Reble , Rita Kodida , Yvonne Bombard , Stephanie DiTroia , Samantha Baxter , Nicholas Watkins , Melanie Care , Arnon Adler , Sheri Horsburgh , Oana Morar , Jillian Murphy , Dayna-Lynn Nevay , Marta Szybowska , Melyssa Aronson , Seema Panchal , Ruth Godoy , Spring Holter , Susan Randall Armel , Kara Semotiuk , Christine Elser , Raymond H Kim , David Chitayat , Joyce So , Hanna Faghfoury , Josh Silver , Chantal F Morel , Jordan Lerner-Ellis

Pancreatic β-Cell-Specific Deletion of VPS41 Causes Diabetes Due to Defects in Insulin Secretion.

Diabetes

Avec: Christian H Burns , Belinda Yau , Anjelica Rodriguez , Jenna Triplett , Drew Maslar , You Sun An , Reini E N van der Welle , Ross G Kossina , Max R Fisher , Gregory W Strout , Peter O Bayguinov , Tineke Veenendaal , David Chitayat , James A J Fitzpatrick , Judith Klumperman , Melkam A Kebede , Cedric S Asensio

High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.

Journal of human genetics

Avec: Anna Hammarsjö , Maria Pettersson , David Chitayat , Atsuhiko Handa , Britt-Marie Anderlid , Marco Bartocci , Donald Basel , Dominyka Batkovskyte , Ana Beleza-Meireles , Peter Conner , Jesper Eisfeldt , Katta M Girisha , Brian Hon-Yin Chung , Eva Horemuzova , Hironobu Hyodo , Liene Korņejeva , Kristina Lagerstedt-Robinson , Angela E Lin , Måns Magnusson , Shahida Moosa , Shalini S Nayak , Daniel Nilsson , Hirofumi Ohashi , Naoko Ohashi-Fukuda , Henrik Stranneheim , Fulya Taylan , Rasa Traberg , Ulrika Voss , Valtteri Wirta , Ann Nordgren , Gen Nishimura , Anna Lindstrand , Giedre Grigelioniene

Tumor surveillance for children and adolescents with cancer predisposition syndromes: The psychosocial impact reported by adolescents and caregivers.

Pediatric blood & cancer

Avec: Kalene van Engelen , Maru Barrera , Jonathan D Wasserman , Susan Randall Armel , David Chitayat , Harriet Druker , Bailey Gallinger , David Malkin , Anita Villani

Characteristic Cochlear Hypoplasia in Patients with Walker-Warburg Syndrome: A Radiologic Study of the Inner Ear in α-Dystroglycan-Related Muscular Disorders.

AJNR. American journal of neuroradiology

Avec: G Talenti , C Robson , M S Severino , C A Alves , D Chitayat , H Dahmoush , L Smith , F Muntoni , S I Blaser , F D'Arco

Reproductive safety of aripiprazole: data from the Massachusetts General Hospital National Pregnancy Registry for Atypical Antipsychotics.

Archives of women's mental health

Avec: Marlene P Freeman , Adele C Viguera , Lina Góez-Mogollón , Amanda V Young , Phoebe S Caplin , Sara A McElheny , Taylor R Church , David Chitayat , Sonia Hernández-Díaz , Lee S Cohen

The phenotypic spectrum of AMER1-related osteopathia striata with cranial sclerosis: The first Canadian cohort.

American journal of medical genetics. Part A

Avec: David Heikoop , Lauren Brick , David Chitayat , Samantha Colaiacovo , Lucie Dupuis , Hanna Faghfoury , Sharan Goobie , Roberto Mendoza , Melanie Napier , Margaret Nowaczyk , Rachel Oh , Josh Silver , Chitra Prasad , Maha Saleh

Mapping the cellular origin and early evolution of leukemia in Down syndrome.

Science (New York, N.Y.)

Avec: Elvin Wagenblast , Joana Araújo , Olga I Gan , Sarah K Cutting , Alex Murison , Gabriela Krivdova , Maria Azkanaz , Jessica L McLeod , Sabrina A Smith , Blaise A Gratton , Sajid A Marhon , Martino Gabra , Jessie J F Medeiros , Sanaz Manteghi , Jian Chen , Michelle Chan-Seng-Yue , Laura Garcia-Prat , Leonardo Salmena , Daniel D De Carvalho , Sagi Abelson , Mohamed Abdelhaleem , Karen Chong , Maian Roifman , Patrick Shannon , Jean C Y Wang , Johann K Hitzler , David Chitayat , John E Dick , Eric R Lechman

45,X/46,XY mosaicism: Clinical manifestations and long term follow-up.

American journal of medical genetics. Part A

Avec: Ebba Alkhunaizi , Jenna Plamondon Albrecht , Mahmoud Aarabi , Selma F Witchel , Diane Wherrett , Riyana Babul-Hirji , Annie Dupuis , Lyne Chiniara , Eric Chater-Diehl , Mary Shago , Cheryl Shuman , Aleksandar Rajkovic , Svetlana A Yatsenko , David Chitayat

Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.

Brain : a journal of neurology

Avec: Marcello Scala , Masashi Nishikawa , Hidenori Ito , Hidenori Tabata , Tayyaba Khan , Andrea Accogli , Laura Davids , Anna Ruiz , Pietro Chiurazzi , Gabriella Cericola , Björn Schulte , Kristin G Monaghan , Amber Begtrup , Annalaura Torella , Michele Pinelli , Anne Sophie Denommé-Pichon , Antonio Vitobello , Caroline Racine , Maria Margherita Mancardi , Courtney Kiss , Andrea Guerin , Wendy Wu , Elisabeth Gabau Vila , Bryan C Mak , Julian A Martinez-Agosto , Michael B Gorin , Bugrahan Duz , Yavuz Bayram , Claudia M B Carvalho , Jaime E Vengoechea , David Chitayat , Tiong Yang Tan , Bert Callewaert , Bernd Kruse , Lynne M Bird , Laurence Faivre , Marcella Zollino , Saskia Biskup , Auteur inconnu , Auteur inconnu , Pasquale Striano , Vincenzo Nigro , Mariasavina Severino , Valeria Capra , Gregory Costain , Koh Ichi Nagata

Prenatal diagnosis of rhombencephalosynapsis and postnatal outcomes associations and outcomes of prenatally detected rhombencephalosynapsis.

Prenatal diagnosis

Avec: Yada Kunpalin , Elka Miller , Kamini Raghuram , Patrick Shannon , Yael Fisher , Vann Chau , Ants Toi , David Chitayat , Susan Blaser , Shiri Shinar

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.

American journal of human genetics

Avec: Tassja Kalm , Claudia Schob , Hanna Völler , Thatjana Gardeitchik , Christian Gilissen , Rolph Pfundt , Chiara Klöckner , Konrad Platzer , Annick Klabunde-Cherwon , Markus Ries , Steffen Syrbe , Francesca Beccaria , Francesca Madia , Marcello Scala , Federico Zara , Floris Hofstede , Marleen E H Simon , Richard H van Jaarsveld , Renske Oegema , Koen L I van Gassen , Sjoerd J B Holwerda , Tahsin Stefan Barakat , Arjan Bouman , Marjon van Slegtenhorst , Sara Álvarez , Alberto Fernández-Jaén , Javier Porta , Andrea Accogli , Margherita Maria Mancardi , Pasquale Striano , Michele Iacomino , Jong-Hee Chae , SeSong Jang , Soo Y Kim , David Chitayat , Saadet Mercimek-Andrews , Christel Depienne , Antje Kampmeier , Alma Kuechler , Harald Surowy , Enrico Silvio Bertini , Francesca Clementina Radio , Cecilia Mancini , Simone Pizzi , Marco Tartaglia , Lucas Gauthier , David Genevieve , Mylène Tharreau , Noy Azoulay , Gal Zaks-Hoffer , Nesia K Gilad , Naama Orenstein , Geneviève Bernard , Isabelle Thiffault , Jonas Denecke , Theresia Herget , Fanny Kortüm , Christian Kubisch , Robert Bähring , Stefan Kindler

Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiency.

Clinical genetics

Avec: Maian Roifman , Kirsten M Niles , Lauren MacNeil , Susan Blaser , Abdul Noor , Ruth Godoy , Tim van Mieghem , Greg Ryan , Gareth Seaward , Neal Sondheimer , Saadet Mercimek-Andrews , Andreas Schulze , Stacy Hewson , Adi Ovadia , David Chitayat , Eric K Morgen , Carlo Hojilla , Elena Kolomietz , Nicholas Watkins , Johannes Häberle , Patrick Shannon

DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.

American journal of human genetics

Avec: Sanaa Choufani , William T Gibson , Andrei L Turinsky , Brian H Y Chung , Tianren Wang , Kopal Garg , Alessandro Vitriolo , Ana S A Cohen , Sharri Cyrus , Sarah Goodman , Eric Chater-Diehl , Jack Brzezinski , Michael Brudno , Luk Ho Ming , Susan M White , Sally Ann Lynch , Carol Clericuzio , I Karen Temple , Frances Flinter , Vivienne McConnell , Tom Cushing , Lynne M Bird , Miranda Splitt , Bronwyn Kerr , Stephen W Scherer , Jerry Machado , Eri Imagawa , Nobuhiko Okamoto , Naomichi Matsumoto , Guiseppe Testa , Maria Iascone , Romano Tenconi , Oana Caluseriu , Roberto Mendoza-Londono , David Chitayat , Cheryl Cytrynbaum , Katrina Tatton-Brown , Rosanna Weksberg

Long-term postnatal outcome of fetuses with prenatally suspected septo-optic dysplasia.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology

Avec: S Shinar , S Blaser , D Chitayat , T Selvanathan , V Chau , P Shannon , S Agrawal , G Ryan , V Pruthi , S P Miller , P Krishnan , T Van Mieghem

Microarray and RASopathy-disorder testing in fetuses with increased nuchal translucency.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology

Avec: P Sinajon , D Chitayat , M Roifman , S Wasim , S Carmona , G Ryan , A Noor , E Kolomietz , K Chong

Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.

American journal of human genetics

Avec: Tadahiro Mitani , Jaya Punetha , Ibrahim Akalin , Davut Pehlivan , Mateusz Dawidziuk , Zeynep Coban Akdemir , Sarenur Yilmaz , Ezgi Aslan , Jill V Hunter , Hadia Hijazi , Christopher M Grochowski , Shalini N Jhangiani , Ender Karaca , Jawid M Fatih , Piotr Iwanowski , Tomasz Gambin , Pawel Wlasienko , Alicja Goszczanska-Ciuchta , Monika Bekiesinska-Figatowska , Masoumeh Hosseini , Sanaz Arzhangi , Hossein Najmabadi , Jill A Rosenfeld , Haowei Du , Dana Marafi , Susan Blaser , Ronni Teitelbaum , Rachel Silver , Auteur inconnu , Jennifer E Posey , Hans-Hilger Ropers , Richard A Gibbs , Wojciech Wiszniewski , James R Lupski , David Chitayat , Kimia Kahrizi , Pawel Gawlinski

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

American journal of human genetics

Avec: Lindsay C Burrage , John J Reynolds , Nissan Vida Baratang , Jennifer B Phillips , Jeremy Wegner , Ashley McFarquhar , Martin R Higgs , Audrey E Christiansen , Denise G Lanza , John R Seavitt , Mahim Jain , Xiaohui Li , David A Parry , Vandana Raman , David Chitayat , Ivan K Chinn , Alison A Bertuch , Lefkothea Karaviti , Alan E Schlesinger , Dawn Earl , Michael Bamshad , Ravi Savarirayan , Harsha Doddapaneni , Donna Muzny , Shalini N Jhangiani , Christine M Eng , Richard A Gibbs , Weimin Bi , Lisa Emrick , Jill A Rosenfeld , John Postlethwait , Monte Westerfield , Mary E Dickinson , Arthur L Beaudet , Emmanuelle Ranza , Celine Huber , Valérie Cormier-Daire , Wei Shen , Rong Mao , Jason D Heaney , Jordan S Orange , Auteur inconnu , Auteur inconnu , Débora Bertola , Guilherme L Yamamoto , Wagner A R Baratela , Merlin G Butler , Asim Ali , Mehdi Adeli , Daniel H Cohn , Deborah Krakow , Andrew P Jackson , Melissa Lees , Amaka C Offiah , Colleen M Carlston , John C Carey , Grant S Stewart , Carlos A Bacino , Philippe M Campeau , Brendan Lee

SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes.

Kidney international

Avec: Jung-Hyun Kim , Eun Young Park , David Chitayat , David L Stachura , Jörg Schaper , Kristin Lindstrom , Tamison Jewett , Dagmar Wieczorek , Jos M Draaisma , Margje Sinnema , Christianne Hoeberigs , Maja Hempel , Kristine K Bachman , Andrea H Seeley , Joshua K Stone , Hyun Kyung Kong , Lana Vukadin , Alexander Richard , Deepali N Shinde , Kirsty McWalter , Yue Cindy Si , Ganka Douglas , Ssang-Taek Lim , Lisenka E L M Vissers , Mathieu Lemaire , Eun-Young Erin Ahn

Perplexed by PGx? Exploring the impact of pharmacogenomic results on medical management, disclosures and patient behavior.

Pharmacogenomics

Avec: Larissa Waldman , Cheryl Shuman , Iris Cohn , Amy Kaiser , David Chitayat , Syed Wasim , Allison Hazell

Fetal myelomeningocele surgery: Only treating the tip of the iceberg.

Prenatal diagnosis

Avec: Alyaa AlRefai , James Drake , Abhaya V Kulkarni , Kristin L Connor , Patrick Shannon , Ants Toi , David Chitayat , Susan Blaser , Paige T Church , Nimrah Abbasi , Greg Ryan , Tim Van Mieghem

Abnormal fetal cerebral and vascular development in hypoplastic left heart syndrome.

Prenatal diagnosis

Avec: Caroline Kinnear , Maruti Haranal , Patrick Shannon , Edgar Jaeggi , David Chitayat , Seema Mital

ATP6AP2 variant impairs CNS development and neuronal survival to cause fulminant neurodegeneration.

The Journal of clinical investigation

Avec: Takuo Hirose , Alfredo Cabrera-Socorro , David Chitayat , Thomas Lemonnier , Olivier Féraud , Carmen Cifuentes-Diaz , Nicolas Gervasi , Cedric Mombereau , Tanay Ghosh , Loredana Stoica , Jeanne d'Arc Al Bacha , Hiroshi Yamada , Marcel A Lauterbach , Marc Guillon , Kiriko Kaneko , Joy W Norris , Komudi Siriwardena , Susan Blasér , Jérémie Teillon , Roberto Mendoza-Londono , Marion Russeau , Julien Hadoux , Sadayoshi Ito , Pierre Corvol , Maria G Matheus , Kenton R Holden , Kohji Takei , Valentina Emiliani , Annelise Bennaceur-Griscelli , Charles E Schwartz , Genevieve Nguyen , Matthias Groszer

Prenatally diagnosed omphaloceles: Report of 92 cases and association with Beckwith-Wiedemann syndrome.

Prenatal diagnosis

Avec: Nimrah Abbasi , Aideen Moore , Priscilla Chiu , Greg Ryan , Rosanna Weksberg , Cheryl Shuman , Leslie Steele , David Chitayat

Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity.

JAMA network open

Avec: Gregory Costain , Susan Walker , Maria Marano , Danielle Veenma , Meaghan Snell , Meredith Curtis , Stephanie Luca , Jason Buera , Danielle Arje , Miriam S Reuter , Bhooma Thiruvahindrapuram , Brett Trost , Wilson W L Sung , Ryan K C Yuen , David Chitayat , Roberto Mendoza-Londono , D James Stavropoulos , Stephen W Scherer , Christian R Marshall , Ronald D Cohn , Eyal Cohen , Julia Orkin , M Stephen Meyn , Robin Z Hayeems

Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulation.

EMBO molecular medicine

Avec: Reini E N van der Welle , Rebekah Jobling , Christian Burns , Paolo Sanza , Jan A van der Beek , Alfonso Fasano , Lan Chen , Fried J Zwartkruis , Susan Zwakenberg , Edward F Griffin , Corlinda Ten Brink , Tineke Veenendaal , Nalan Liv , Conny M A van Ravenswaaij-Arts , Henny H Lemmink , Rolph Pfundt , Susan Blaser , Carolina Sepulveda , Andres M Lozano , Grace Yoon , Teresa Santiago-Sim , Cedric S Asensio , Guy A Caldwell , Kim A Caldwell , David Chitayat , Judith Klumperman

Heterozygous NOTCH1 deletion associated with variable congenital heart defects.

Clinical genetics

Avec: Maian Roifman , Brian Hon Yin Chung , Diane Myles Reid , Ronni Teitelbaum , Nicole Martin , Lynne E Nield , Megan Thompson , Patrick Shannon , David Chitayat

Mild Idiopathic Infantile Hypercalcemia-Part 1: Biochemical and Genetic Findings.

The Journal of clinical endocrinology and metabolism

Avec: Nina Lenherr-Taube , Edwin J Young , Michelle Furman , Yesmino Elia , Esther Assor , David Chitayat , Tami Uster , Susan Kirwin , Katherine Robbins , Kathleen M B Vinette , Alan Daneman , Christian R Marshall , Carol Collins , Kenneth Thummel , Etienne Sochett , Michael A Levine

Haploinsufficiency of SF3B2 causes craniofacial microsomia.

Nature communications

Avec: Andrew T Timberlake , Casey Griffin , Carrie L Heike , Anne V Hing , Michael L Cunningham , David Chitayat , Mark R Davis , Soghra J Doust , Amelia F Drake , Milagros M Duenas-Roque , Jack Goldblatt , Jonas A Gustafson , Paula Hurtado-Villa , Alexis Johns , Natalya Karp , Nigel G Laing , Leanne Magee , Auteur inconnu , Sureni V Mullegama , Harry Pachajoa , Gloria L Porras-Hurtado , Rhonda E Schnur , Jennie Slee , Steven L Singer , David A Staffenberg , Andrew E Timms , Cheryl A Wise , Ignacio Zarante , Jean-Pierre Saint-Jeannet , Daniela V Luquetti

Risk of major malformations in infants after first-trimester exposure to benzodiazepines: Results from the Massachusetts General Hospital National Pregnancy Registry for Psychiatric Medications.

Depression and anxiety

Avec: Mercedes J Szpunar , Marlene P Freeman , Lauren A Kobylski , Phoebe S Caplin , Peter Gaccione , Adele C Viguera , David Chitayat , Sonia Hernández-Díaz , Lee S Cohen

Prenatal diagnosis of ROR-2 related Robinow syndrome presenting with fetal ultrasound findings of mesomelia, vertebral, digital and genital abnormalities.

Prenatal diagnosis

Avec: Liying Yang , Patrick Shannon , Rachel Silver , Maian Roifman , Carin Yates , David Chitayat

Exploring Barriers and Facilitators to Indirect Cascade Screening for Familial Hypercholesteraemia in a Paediatric/Parent Population.

CJC pediatric and congenital heart disease

Avec: Megan A Dickson , Laura Zahavich , Janet Rush , Stacy Hewson , David Chitayat , Brian W McCrindle , Nita Chahal

Fetal macrocephaly: Pathophysiology, prenatal diagnosis and management.

Prenatal diagnosis

Avec: Shiri Shinar , David Chitayat , Patrick Shannon , Susan Blaser

Revisiting the Implications of a Wide or Narrow Fetal Cavum Septi Pellucidi.

Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine

Avec: Joanna Sichitiu , Kimia Ghannad-Zadeh , Tim Van Mieghem , Ants Toi , Elena Greenfeld , David Chitayat , Shiri Shinar

A homozygous pathogenic variant in SHROOM3 associated with anencephaly and cleft lip and palate.

Clinical genetics

Avec: Ashish R Deshwar , Nicole Martin , Patrick Shannon , David Chitayat

Intrinsic Endocardial Defects Contribute to Hypoplastic Left Heart Syndrome.

Cell stem cell

Avec: Yifei Miao , Lei Tian , Marcy Martin , Sharon L Paige , Francisco X Galdos , Jibiao Li , Alyssa Klein , Hao Zhang , Ning Ma , Yuning Wei , Maria Stewart , Soah Lee , Jan-Renier Moonen , Bing Zhang , Paul Grossfeld , Seema Mital , David Chitayat , Joseph C Wu , Marlene Rabinovitch , Timothy J Nelson , Shuyi Nie , Sean M Wu , Mingxia Gu

Short- and long-term outcome following thoracoamniotic shunting for fetal hydrothorax.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology

Avec: E N Kelly , G Seaward , X Y Ye , R Windrim , T Van Mieghem , J Keunen , N Abbasi , D Chitayat , G Ryan

Fetal arthrogryposis multiplex congenita/fetal akinesia deformation sequence (FADS)-Aetiology, diagnosis, and management.

Prenatal diagnosis

Avec: Kirsten M Niles , Susan Blaser , Patrick Shannon , David Chitayat

Prenatal and preconception genetic counseling for consanguinity: Consanguineous couples' expectations, experiences, and perspectives.

Journal of genetic counseling

Avec: Emily Thain , Cheryl Shuman , Kristen Miller , Karen Sappleton , Diane Myles-Reid , David Chitayat , Clare Gibbons

New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome.

BMC medical genomics

Avec: Eric Chater-Diehl , Resham Ejaz , Cheryl Cytrynbaum , Michelle T Siu , Andrei Turinsky , Sanaa Choufani , Sarah J Goodman , Omar Abdul-Rahman , Melanie Bedford , Naghmeh Dorrani , Kendra Engleman , Josue Flores-Daboub , David Genevieve , Roberto Mendoza-Londono , Wendy Meschino , Laurence Perrin , Nicole Safina , Sharron Townshend , Stephen W Scherer , Evdokia Anagnostou , Amelie Piton , Matthew Deardorff , Michael Brudno , David Chitayat , Rosanna Weksberg

Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by an in frame deletion within FOXF1.

American journal of medical genetics. Part A

Avec: Danielle K Bourque , Inara Chacon Fonseca , Andrea Staines , Ronni Teitelbaum , Michelle M Axford , Rebekah Jobling , David Chiasson , David Chitayat

Prenatal detection of isolated bilateral hyperechogenic kidneys: Etiologies and outcomes.

Prenatal diagnosis

Avec: Shirley Shuster , Johannes Keunen , Patrick Shannon , Nicholas Watkins , Karen Chong , David Chitayat

Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum.

American journal of medical genetics. Part A

Avec: Ebba Alkhunaizi , Shirley Shuster , Patrick Shannon , Victoria Mok Siu , Sandra Darilek , Carrie A Mohila , Sarah Boissel , Benjamin Ellezam , Catherine Fallet-Bianco , Anne-Marie Laberge , Julianne Zandberg , Marie Injeyan , Lili-Naz Hazrati , Fadi Hamdan , David Chitayat

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome.

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

Avec: Gregory Costain , Bert Callewaert , Heinz Gabriel , Tiong Y Tan , Susan Walker , John Christodoulou , Tamas Lazar , Björn Menten , Julia Orkin , Simon Sadedin , Meaghan Snell , Arnaud Vanlander , Sarah Vergult , Susan M White , Stephen W Scherer , Robin Z Hayeems , Susan Blaser , Shoshana J Wodak , David Chitayat , Christian R Marshall , M Stephen Meyn

Variants in

Brain communications

Avec: Laura C Bott , Mitra Forouhan , Maria Lieto , Ambre J Sala , Ruth Ellerington , Janel O Johnson , Alfina A Speciale , Chiara Criscuolo , Alessandro Filla , David Chitayat , Ebba Alkhunaizi , Patrick Shannon , Andrea H Nemeth , Auteur inconnu , Francesco Angelucci , Wooi Fang Lim , Pasquale Striano , Federico Zara , Ingo Helbig , Mikko Muona , Carolina Courage , Anna-Elina Lehesjoki , Samuel F Berkovic , Auteur inconnu , Kenneth H Fischbeck , Francesco Brancati , Richard I Morimoto , Matthew J A Wood , Carlo Rinaldi

Genetic counselling for infertile men of known and unknown etiology.

Translational andrology and urology

Avec: Riyana Babul-Hirji , Ruqayya Hirji , David Chitayat

Histone H3.3 beyond cancer: Germline mutations in

Science advances

Avec: Laura Bryant , Dong Li , Samuel G Cox , Dylan Marchione , Evan F Joiner , Khadija Wilson , Kevin Janssen , Pearl Lee , Michael E March , Divya Nair , Elliott Sherr , Brieana Fregeau , Klaas J Wierenga , Alexandrea Wadley , Grazia M S Mancini , Nina Powell-Hamilton , Jiddeke van de Kamp , Theresa Grebe , John Dean , Alison Ross , Heather P Crawford , Zoe Powis , Megan T Cho , Marcia C Willing , Linda Manwaring , Rachel Schot , Caroline Nava , Alexandra Afenjar , Davor Lessel , Matias Wagner , Thomas Klopstock , Juliane Winkelmann , Claudia B Catarino , Kyle Retterer , Jane L Schuette , Jeffrey W Innis , Amy Pizzino , Sabine Lüttgen , Jonas Denecke , Tim M Strom , Kristin G Monaghan , Auteur inconnu , Zuo-Fei Yuan , Holly Dubbs , Renee Bend , Jennifer A Lee , Michael J Lyons , Julia Hoefele , Roman Günthner , Heiko Reutter , Boris Keren , Kelly Radtke , Omar Sherbini , Cameron Mrokse , Katherine L Helbig , Sylvie Odent , Benjamin Cogne , Sandra Mercier , Stephane Bezieau , Thomas Besnard , Sebastien Kury , Richard Redon , Karit Reinson , Monica H Wojcik , Katrin Õunap , Pilvi Ilves , A Micheil Innes , Kristin D Kernohan , Auteur inconnu , Gregory Costain , M Stephen Meyn , David Chitayat , Elaine Zackai , Anna Lehman , Hilary Kitson , Auteur inconnu , Martin G Martin , Julian A Martinez-Agosto , Auteur inconnu , Stan F Nelson , Christina G S Palmer , Jeanette C Papp , Neil H Parker , Janet S Sinsheimer , Eric Vilain , Jijun Wan , Amanda J Yoon , Allison Zheng , Elise Brimble , Giovanni Battista Ferrero , Francesca Clementina Radio , Diana Carli , Sabina Barresi , Alfredo Brusco , Marco Tartaglia , Jennifer Muncy Thomas , Luis Umana , Marjan M Weiss , Garrett Gotway , K E Stuurman , Michelle L Thompson , Kirsty McWalter , Constance T R M Stumpel , Servi J C Stevens , Alexander P A Stegmann , Kristian Tveten , Arve Vøllo , Trine Prescott , Christina Fagerberg , Lone Walentin Laulund , Martin J Larsen , Melissa Byler , Robert Roger Lebel , Anna C Hurst , Joy Dean , Samantha A Schrier Vergano , Jennifer Norman , Saadet Mercimek-Andrews , Juanita Neira , Margot I Van Allen , Nicola Longo , Elizabeth Sellars , Raymond J Louie , Sara S Cathey , Elly Brokamp , Delphine Heron , Molly Snyder , Adeline Vanderver , Celeste Simon , Xavier de la Cruz , Natália Padilla , J Gage Crump , Wendy Chung , Benjamin Garcia , Hakon H Hakonarson , Elizabeth J Bhoj

Newborn with bilateral congenital cataracts: Never forget congenital rubella syndrome.

Paediatrics & child health

Avec: Inara Chacon Fonseca , Jacqueline Wong , Kamiar Mireskandari , David Chitayat

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.

American journal of human genetics

Avec: Dmitrijs Rots , Eric Chater-Diehl , Alexander J M Dingemans , Sarah J Goodman , Michelle T Siu , Cheryl Cytrynbaum , Sanaa Choufani , Ny Hoang , Susan Walker , Zain Awamleh , Joshua Charkow , Stephen Meyn , Rolph Pfundt , Tuula Rinne , Thatjana Gardeitchik , Bert B A de Vries , A Chantal Deden , Erika Leenders , Michael Kwint , Constance T R M Stumpel , Servi J C Stevens , Jeroen R Vermeulen , Jeske V T van Harssel , Danielle G M Bosch , Koen L I van Gassen , Ellen van Binsbergen , Christa M de Geus , Hein Brackel , Maja Hempel , Davor Lessel , Jonas Denecke , Anne Slavotinek , Jonathan Strober , Amy Crunk , Leandra Folk , Ingrid M Wentzensen , Hui Yang , Fanggeng Zou , Francisca Millan , Richard Person , Yili Xie , Shuxi Liu , Lilian B Ousager , Martin Larsen , Laura Schultz-Rogers , Eva Morava , Eric W Klee , Ian R Berry , Jennifer Campbell , Kristin Lindstrom , Brianna Pruniski , Ann M Neumeyer , Jessica A Radley , Chanika Phornphutkul , Berkley Schmidt , William G Wilson , Katrin Õunap , Karit Reinson , Sander Pajusalu , Arie van Haeringen , Claudia Ruivenkamp , Roos Cuperus , Fernando Santos-Simarro , María Palomares-Bralo , Marta Pacio-Míguez , Alyssa Ritter , Elizabeth Bhoj , Elin Tønne , Kristian Tveten , Gerarda Cappuccio , Nicola Brunetti-Pierri , Leah Rowe , Jason Bunn , Margarita Saenz , Konrad Platzer , Mareike Mertens , Oana Caluseriu , Małgorzata J M Nowaczyk , Ronald D Cohn , Peter Kannu , Ebba Alkhunaizi , David Chitayat , Stephen W Scherer , Han G Brunner , Lisenka E L M Vissers , Tjitske Kleefstra , David A Koolen , Rosanna Weksberg

Adapting obstetric and neonatal services during the COVID-19 pandemic: a scoping review.

BMC pregnancy and childbirth

Avec: Shira Gold , Lauren Clarfield , Jennie Johnstone , Yenge Diambomba , Prakesh S Shah , Wendy Whittle , Nimrah Abbasi , Cristian Arzola , Rizwana Ashraf , Anne Biringer , David Chitayat , Marie Czikk , Milena Forte , Tracy Franklin , Michelle Jacobson , Johannes Keunen , John Kingdom , Stephen Lapinsky , Joanne MacKenzie , Cynthia Maxwell , Mary Preisman , Greg Ryan , Amanda Selk , Mathew Sermer , Candice Silversides , John Snelgrove , Nancy Watts , Beverly Young , Charmaine De Castro , Rohan D'Souza

Diagnostic yield of genome sequencing for prenatal diagnosis of fetal structural anomalies.

Prenatal diagnosis

Avec: Yiming Wang , Elena Greenfeld , Nicholas Watkins , Peter Belesiotis , Syed H Zaidi , Christian Marshall , Bhooma Thiruvahindrapuram , Patrick Shannon , Maian Roifman , Karen Chong , David Chitayat , Dimitri James Stavropoulos , Abdul Noor

Functional Expression of Multidrug-Resistance (MDR) Transporters in Developing Human Fetal Brain Endothelial Cells.

Cells

Avec: Phetcharawan Lye , Enrrico Bloise , Guinever E Imperio , David Chitayat , Stephen G Matthews

Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.

Clinical genetics

Avec: Taila Hartley , Élisabeth Soubry , Meryl Acker , Matthew Osmond , Madeline Couse , Meredith K Gillespie , Yoko Ito , Aren E Marshall , Gabrielle Lemire , Lijia Huang , Caitlin Chisholm , Alison J Eaton , E Magda Price , James J Dowling , Arun K Ramani , Roberto Mendoza-Londono , Gregory Costain , Michelle M Axford , Anna Szuto , Vanda McNiven , Nadirah Damseh , Rebekah Jobling , Leanne de Kock , Bahareh A Mojarad , Ted Young , Zhuo Shao , Robin Z Hayeems , Ian D Graham , Mark Tarnopolsky , Lauren Brady , Christine M Armour , Michael Geraghty , Julie Richer , Sarah Sawyer , Matthew Lines , Saadet Mercimek-Andrews , Melissa T Carter , Gail Graham , Peter Kannu , Joanna Lazier , Chumei Li , Ritu B Aul , Tugce B Balci , Nomazulu Dlamini , Lauren Badalato , Andrea Guerin , Jagdeep Walia , David Chitayat , Ronald Cohn , Hanna Faghfoury , Cynthia Forster-Gibson , Hernan Gonorazky , Eyal Grunebaum , Michal Inbar-Feigenberg , Natalya Karp , Chantal Morel , Alison Rusnak , Neal Sondheimer , Jodi Warman-Chardon , Priya T Bhola , Danielle K Bourque , Inara J Chacon , Lauren Chad , Pranesh Chakraborty , Karen Chong , Asif Doja , Elaine Suk-Ying Goh , Maha Saleh , Auteur inconnu , Beth K Potter , Christian R Marshall , David A Dyment , Kristin Kernohan , Kym M Boycott

Heart transplantation in neonatal Marfan syndrome: Saving life in a rare and fatal condition.

Pediatric transplantation

Avec: Jessica A Laks , Aine Lynch , Osami Honjo , Lars Grosse-Wortmann , David Chitayat , Anne I Dipchand

Development of a storytelling communication facilitation tool (SCFT) to facilitate discussion of complex genetic diagnoses between parents and their children: A pilot study using 22q11.2 deletion syndrome as a model condition.

PEC innovation

Avec: Simina Bogatan , Andrea Shugar , Syed Wasim , Susan Ball , Cathryn Schmidt , David Chitayat , Cheryl Shuman , Cheryl Cytrynbaum

Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis.

Prenatal diagnosis

Avec: Gillian V Blayney , Eoghan Laffan , Preethi A Jacob , Caitlin D Baptiste , Heinz Gabriel , Teresa N Sparks , Yuval Yaron , Mary E Norton , Karin Diderich , Yiming Wang , Karen Chong , David Chitayat , Neelam Saini , Shagun Aggarwal , Montse Pauta , Antoni Borrell , Kelly Gilmore , Natalie J Chandler , Stephanie Allen , Neeta Vora , Abdul Noor , Caitriona Monaghan , Mark D Kilby , Ronald J Wapner , Lyn S Chitty , Fionnuala Mone

Challenges experienced by genetic counselors while they provided counseling about mosaic embryos.

F&S reports

Avec: Olivia M Moran , Kayla Flamenbaum , Diane Myles Reid , Jeanna M McCuaig , Riyana Babul-Hirji , David Chitayat , Maian Roifman

Anterior extension of the choroid plexus into the frontal horns of the fetal lateral cerebral ventricles: Prenatal findings and postnatal outcome.

Prenatal diagnosis

Avec: Eran Ashwal , Susan Blaser , Ashley Leckie , Dilkash Kajal , Pradeep Krishnan , Karen Chong , Maian Roifman , Ants Toi , David Chitayat

Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.

American journal of medical genetics. Part A

Avec: Amanda Thomas-Wilson , John P Schacht , David Chitayat , Susan Blaser , Francis Jeshira Reynoso Santos , Kimberly Glaser , Alesky Caffo , Ingrid M Wentzensen , Lindsay B Henderson , Futao Zhang , Ying Zhu , Ellen Di Corleto , Fabricio da Silva Costa , Rebecca Vink , Ebba Alkhunaizi , Laura Russell , Michael F Buckley , Tony Roscioli , Elaine Maria Pereira , Mythily Ganapathi

Réseau de co-auteurs

Patrick Shannon 22 collaborations

None None 19 collaborations

Susan Blaser 13 collaborations

Karen Chong 11 collaborations

Maian Roifman 10 collaborations

Ebba Alkhunaizi 8 collaborations

Cheryl Shuman 8 collaborations

Greg Ryan 6 collaborations

Roberto Mendoza-Londono 6 collaborations

Abdul Noor 6 collaborations

Nicholas Watkins 6 collaborations

Stephen W Scherer 6 collaborations

Shiri Shinar 5 collaborations

Tim Van Mieghem 5 collaborations

Robin Z Hayeems 5 collaborations

Cheryl Cytrynbaum 5 collaborations

Rosanna Weksberg 5 collaborations

Gregory Costain 5 collaborations

M Stephen Meyn 4 collaborations

Elena Greenfeld 4 collaborations

Nicole Martin 4 collaborations

Ronni Teitelbaum 4 collaborations

James J Dowling 4 collaborations

Oana Caluseriu 4 collaborations

Rolph Pfundt 4 collaborations

Riyana Babul-Hirji 4 collaborations

D Chitayat 4 collaborations

Eric Chater-Diehl 4 collaborations

Ants Toi 4 collaborations

Saadet Mercimek-Andrews 4 collaborations

Christian R Marshall 4 collaborations

Adele C Viguera 3 collaborations

Marlene P Freeman 3 collaborations

Phoebe S Caplin 3 collaborations

Sonia Hernández-Díaz 3 collaborations

Lee S Cohen 3 collaborations

Yiming Wang 3 collaborations

Joanna Lazier 3 collaborations

Diane Myles-Reid 3 collaborations

Lynne M Bird 3 collaborations

John M Graham 3 collaborations

Karen W Gripp 3 collaborations

Rosemarie Smith 3 collaborations

Susan M White 3 collaborations

Vanda McNiven 3 collaborations

Rachel Silver 3 collaborations

Raymond H Kim 3 collaborations

Seema Mital 3 collaborations

Chloe Mighton 3 collaborations

Jordan Lerner-Ellis 3 collaborations

Sonal Mahida 3 collaborations

Donald Basel 3 collaborations

Miranda Splitt 3 collaborations

Servi J C Stevens 3 collaborations

Ingrid M Wentzensen 3 collaborations

Johannes Keunen 3 collaborations

Hanna Faghfoury 3 collaborations

Pasquale Striano 3 collaborations

Jonas Denecke 3 collaborations

Sanaa Choufani 3 collaborations

G Ryan 3 collaborations

Nimrah Abbasi 3 collaborations

Susan Walker 3 collaborations

Rebekah Jobling 3 collaborations

Marilyn C Jones 2 collaborations

Eric Vilain 2 collaborations

Alan Daneman 2 collaborations

Priscilla Chiu 2 collaborations

Ariana Kariminejad 2 collaborations

Lina Góez-Mogollón 2 collaborations

Sara A McElheny 2 collaborations

Taylor R Church 2 collaborations

Amanda V Young 2 collaborations

Ashish Marwaha 2 collaborations

Lauren Chad 2 collaborations

Angie C Jelin 2 collaborations

Mara Rosner 2 collaborations

Weizhen Ji 2 collaborations

Omar Abdul-Rahman 2 collaborations

Sally Ann Lynch 2 collaborations

Elaine Zackai 2 collaborations

Olivia M Moran 2 collaborations

Lynne E Nield 2 collaborations

Miriam S Reuter 2 collaborations

Laura Zahavich 2 collaborations

Salma Shickh 2 collaborations

Rita Kodida 2 collaborations

Seema Panchal 2 collaborations

Christine Elser 2 collaborations

Yvonne Bombard 2 collaborations

Christine Shieh 2 collaborations

Natasha Jones 2 collaborations

Brigitte Vanle 2 collaborations

Margaret Au 2 collaborations

Alden Y Huang 2 collaborations

Ana P G Silva 2 collaborations

Hane Lee 2 collaborations

Emilie D Douine 2 collaborations

Maria G Otero 2 collaborations

Andrew Choi 2 collaborations

Katheryn Grand 2 collaborations

Ingrid P Taff 2 collaborations

Mauricio R Delgado 2 collaborations

M J Hajianpour 2 collaborations

Andrea Seeley 2 collaborations

Luis Rohena 2 collaborations

Hilary Vernon 2 collaborations

Samantha A Vergano 2 collaborations

Sakkubai Naidu 2 collaborations

Ana Berta Sousa 2 collaborations

Karen E Wain 2 collaborations

Thomas D Challman 2 collaborations

Geoffrey Beek 2 collaborations

Judith Ranells 2 collaborations

Roman Yusupov 2 collaborations

Mary-Louise Freckmann 2 collaborations

Lisa Ohden 2 collaborations

Laura Davis-Keppen 2 collaborations

Richard Finkel 2 collaborations

Andrew Dauber 2 collaborations

Rebecca Spillmann 2 collaborations

Loren D M Pena 2 collaborations

Kay Metcalfe 2 collaborations

Katherine Lachlan 2 collaborations

Shane A McKee 2 collaborations

Jane Hurst 2 collaborations

David R Fitzpatrick 2 collaborations

Jenny E V Morton 2 collaborations

Helen Cox 2 collaborations

Sunita Venkateswaran 2 collaborations

Juan I Young 2 collaborations

Eric D Marsh 2 collaborations

Stanley F Nelson 2 collaborations

Julian A Martinez 2 collaborations

Usha Kini 2 collaborations

Joel P Mackay 2 collaborations

Tyler Mark Pierson 2 collaborations

Taila Hartley 2 collaborations

Anne-Marie Laberge 2 collaborations

Christine M Armour 2 collaborations

Antonio Vitobello 2 collaborations

Tuula Rinne 2 collaborations

Han G Brunner 2 collaborations

Ashish R Deshwar 2 collaborations

Pascaline Létard 2 collaborations

Frederic Bilan 2 collaborations

Lauren Brady 2 collaborations

Mark Tarnopolsky 2 collaborations

Neeta L Vora 2 collaborations

Kelly Gilmore 2 collaborations

Teresa N Sparks 2 collaborations

Mary E Norton 2 collaborations

Pranesh Chakraborty 2 collaborations

Eran Ashwal 2 collaborations

Tiong Y Tan 2 collaborations

Cheryl A Wise 2 collaborations

Brianna Pruniski 2 collaborations

Boris Keren 2 collaborations

Gen Nishimura 2 collaborations

Gareth Seaward 2 collaborations

Marie Injeyan 2 collaborations

Valérie Cormier-Daire 2 collaborations

Jonathan D Wasserman 2 collaborations

Maru Barrera 2 collaborations

David Malkin 2 collaborations

Harriet Druker 2 collaborations

Ruth Godoy 2 collaborations

Susan Randall Armel 2 collaborations

Josh Silver 2 collaborations

Reini E N van der Welle 2 collaborations

Tineke Veenendaal 2 collaborations

Judith Klumperman 2 collaborations

Cedric S Asensio 2 collaborations

Maha Saleh 2 collaborations

Marcello Scala 2 collaborations

Andrea Accogli 2 collaborations

Kristin G Monaghan 2 collaborations

Andrea Guerin 2 collaborations

Julian A Martinez-Agosto 2 collaborations

Bert Callewaert 2 collaborations

Thatjana Gardeitchik 2 collaborations

Konrad Platzer 2 collaborations

Federico Zara 2 collaborations

Koen L I van Gassen 2 collaborations

Francesca Clementina Radio 2 collaborations

Marco Tartaglia 2 collaborations

David Genevieve 2 collaborations

Kirsten M Niles 2 collaborations

Neal Sondheimer 2 collaborations

Stacy Hewson 2 collaborations

Michael Brudno 2 collaborations

T Van Mieghem 2 collaborations

Shalini N Jhangiani 2 collaborations

Jill A Rosenfeld 2 collaborations

Richard A Gibbs 2 collaborations

Kristin Lindstrom 2 collaborations

Maja Hempel 2 collaborations

Kirsty McWalter 2 collaborations

Lisenka E L M Vissers 2 collaborations

Syed Wasim 2 collaborations

Meaghan Snell 2 collaborations

Bhooma Thiruvahindrapuram 2 collaborations

Ronald D Cohn 2 collaborations

Julia Orkin 2 collaborations

Diane Myles Reid 2 collaborations

Natalya Karp 2 collaborations

Michelle T Siu 2 collaborations

Sarah J Goodman 2 collaborations

Danielle K Bourque 2 collaborations

Inara Chacon Fonseca 2 collaborations

Michelle M Axford 2 collaborations

Shirley Shuster 2 collaborations

Heinz Gabriel 2 collaborations

Davor Lessel 2 collaborations

Karit Reinson 2 collaborations

Katrin Õunap 2 collaborations

Constance T R M Stumpel 2 collaborations

Kristian Tveten 2 collaborations

Peter Kannu 2 collaborations

Joel J Hughes 1 collaboration

Paul Kruszka 1 collaboration

Louise C Pyle 1 collaboration

Dorothy K Grange 1 collaboration

Seth I Berger 1 collaboration

Katelyn K Payne 1 collaboration

Diane Masser-Frye 1 collaboration

Tommy Hu 1 collaboration

Michelle R Christie 1 collaboration

Nancy J Clegg 1 collaboration

Joshua L Everson 1 collaboration

Ariel F Martinez 1 collaboration

Laurence E Walsh 1 collaboration

Emma Bedoukian 1 collaboration

Catharine Jean Harris 1 collaboration

Korbinian M Riedhammer 1 collaboration

Daniela Choukair 1 collaboration

Patricia Y Fechner 1 collaboration

Meilan M Rutter 1 collaboration

Sophia B Hufnagel 1 collaboration

Gad B Kletter 1 collaboration

Emmanuele Delot 1 collaboration

Robert J Lipinski 1 collaboration

Chad M Vezina 1 collaboration

Maximilian Muenke 1 collaboration

Swati Agrawal 1 collaboration

Michelle Ryu 1 collaboration

Augusto Zani 1 collaboration

Fatima Abdelfattah 1 collaboration

Anne-Karin Kahlert 1 collaboration

Patrick J Morrison 1 collaboration

Evren Gumus 1 collaboration

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