Carlos A Bacino

Affiliations
  • Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
  • Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Baylor Genetics, Houston, TX, USA.

Publications (51)

Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Lisa T Emrick , Jill A Rosenfeld , Seema R Lalani , Mahim Jain , Nilesh K Desai , Austin Larson , Kimberly Kripps , Adeline Vanderver , Ryan J Taft , Krista Bluske , Denise Perry , Honey Nagakura , LaDonna L Immken , Lindsay C Burrage , John W Belmont , Undiagnosed Diseases Network , Brendan Lee

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 , 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

De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy.

American journal of human genetics
Avec: Hyung-Lok Chung , Xiao Mao , Hua Wang , Ye-Jin Park , Paul C Marcogliese , Jill A Rosenfeld , Lindsay C Burrage , Pengfei Liu , David R Murdock , Shinya Yamamoto , Michael F Wangler , Auteur inconnu , Hsiao-Tuan Chao , Hongyu Long , Li Feng , Hugo J Bellen , Bo Xiao

Pharmacokinetics and Exposure-Response of Vosoritide in Children with Achondroplasia.

Clinical pharmacokinetics
Avec: Ming Liang Chan , Yulan Qi , Kevin Larimore , Anu Cherukuri , Lori Seid , Kala Jayaram , George Jeha , Elena Fisheleva , Jonathan Day , Alice Huntsman-Labed , Ravi Savarirayan , Melita Irving , Julie Hoover-Fong , Keiichi Ozono , Klaus Mohnike , William R Wilcox , William A Horton , Joshua Henshaw

A novel, de novo intronic variant in POGZ causes White-Sutton syndrome.

American journal of medical genetics. Part A
Avec: Ashanta Merriweather , David R Murdock , Jill A Rosenfeld , Hongzheng Dai , Shamika Ketkar , Lisa Emrick , Sarah Nicholas , Richard A Lewis , Auteur inconnu , Daryl A Scott , Brendan Lee , Vernon Reid Sutton , Lorraine Potocki , Lindsay C Burrage

Developmental milestones and daily living skills in individuals with Angelman syndrome.

Journal of neurodevelopmental disorders
Avec: Anjali Sadhwani , Sonya Powers , Anne Wheeler , Hillary Miller , Sarah Nelson Potter , Sarika U Peters , Steven A Skinner , Logan K Wink , Craig A Erickson , Lynne M Bird , Wen-Hann Tan

Novel syndromic neurodevelopmental disorder caused by de novo deletion of

medRxiv : the preprint server for health sciences
Avec: Vijay S Ganesh , Kevin Riquin , Nicolas Chatron , Kay-Marie Lamar , Miriam C Aziz , Pauline Monin , Melanie O'Leary , Julia K Goodrich , Kiran V Garimella , Eleina England , Esther Yoon , Ben Weisburd , Francois Aguet , David R Murdock , Hongzheng Dai , Jill A Rosenfeld , Lisa T Emrick , Shamika Ketkar , Auteur inconnu , Yael Sarusi , Damien Sanlaville , Saima Kayani , Brian Broadbent , Bertrand Isidor , Alisée Pengam , Benjamin Cogné , Daniel G MacArthur , Igor Ulitsky , Gemma L Carvill , Anne O'Donnell-Luria

The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing.

American journal of human genetics
Avec: Shenglan Li , Sen Zhao , Jefferson C Sinson , Aleksandar Bajic , Jill A Rosenfeld , Matthew B Neeley , Mezthly Pena , Kim C Worley , Lindsay C Burrage , Monika Weisz-Hubshman , Shamika Ketkar , William J Craigen , Gary D Clark , Seema Lalani , Keren Machol , Hsiao-Tuan Chao , Lorraine Potocki , Lisa Emrick , Jennifer Sheppard , My T T Nguyen , Anahita Khoramnia , Paula Patricia Hernandez , Sandesh Cs Nagamani , Zhandong Liu , Auteur inconnu , Christine M Eng , Brendan Lee , Pengfei Liu

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Bo Yuan , Lei Wang , Pengfei Liu , Chad Shaw , Hongzheng Dai , Lance Cooper , Wenmiao Zhu , Stephanie A Anderson , Linyan Meng , Xia Wang , Yue Wang , Fan Xia , Rui Xiao , Alicia Braxton , Sandra Peacock , Eric Schmitt , Patricia A Ward , Francesco Vetrini , Weimin He , Theodore Chiang , Donna Muzny , Richard A Gibbs , Arthur L Beaudet , Amy M Breman , Janice Smith , Sau Wai Cheung , Christine M Eng , Yaping Yang , James R Lupski , Weimin Bi

Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity.

Nature communications
Avec: Laure Asselin , José Rivera Alvarez , Solveig Heide , Camille S Bonnet , Peggy Tilly , Hélène Vitet , Chantal Weber , Kristin Baranaño , Anna Chassevent , Amy Dameron , Laurence Faivre , Neil A Hanchard , Sonal Mahida , Kirsty McWalter , Cyril Mignot , Caroline Nava , Agnès Rastetter , Haley Streff , Christel Thauvin-Robinet , Marjan M Weiss , Gladys Zapata , Petra J G Zwijnenburg , Frédéric Saudou , Christel Depienne , Christelle Golzio , Delphine Héron , Juliette D Godin

A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome.

Orphanet journal of rare diseases
Avec: Julia Han , Terry Jo Bichell , Stephanie Golden , Irina Anselm , Susan Waisbren , Sarika U Peters , Lynne M Bird , Virginia Kimonis

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 , Philippe M Campeau , Brendan Lee

Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defect.

Molecular genetics & genomic medicine
Avec: Pasquale Piccolo , Valeria Sabatino , Pratibha Mithbaokar , Elena Polishchuk , John Hicks , Roman Polishchuk , Nicola Brunetti-Pierri

Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental Syndromes.

Pediatric neurology
Avec: Olivia J Veatch , Beth A Malow , Hye-Seung Lee , Aryn Knight , Judy O Barrish , Jeffrey L Neul , Jane B Lane , Steven A Skinner , Walter E Kaufmann , Jennifer L Miller , Daniel J Driscoll , Lynne M Bird , Merlin G Butler , Elisabeth M Dykens , June-Anne Gold , Virginia Kimonis , Wen-Hann Tan , Sanjeev V Kothare , Sarika U Peters , Alan K Percy , Daniel G Glaze

Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.

Brain : a journal of neurology
Avec: Renzo Guerrini , Davide Mei , Katalin Kerti-Szigeti , Sara Pepe , Mary Kay Koenig , Gretchen Von Allmen , Megan T Cho , Kimberly McDonald , Janice Baker , Vikas Bhambhani , Zöe Powis , Lance Rodan , Rima Nabbout , Giulia Barcia , Jill A Rosenfeld , Cyril Mignot , Lillian H Power , Catharine J Harris , Dragan Marjanovic , Rikke S Møller , Trine B Hammer , Auteur inconnu , Riikka Keski Filppula , Päivi Vieira , Clara Hildebrandt , Stephanie Sacharow , Auteur inconnu , Luca Maragliano , Fabio Benfenati , Katherine Lachlan , Andreas Benneche , Florence Petit , Jean Madeleine de Sainte Agathe , Barbara Hallinan , Yue Si , Ingrid M Wentzensen , Fanggeng Zou , Vinodh Narayanan , Naomichi Matsumoto , Alessandra Boncristiano , Giancarlo la Marca , Mitsuhiro Kato , Kristin Anderson , Carmen Barba , Luisa Sturiale , Domenico Garozzo , Roberto Bei , Auteur inconnu , Laura Masuelli , Valerio Conti , Gaia Novarino , Anna Fassio

Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.

Human mutation
Avec: Yoel Gofin , Tianyun Wang , Madelyn A Gillentine , Tiana M Scott , Aliska M Berry , Mahshid S Azamian , Casie Genetti , Pankaj B Agrawal , Jonathan Picker , Monica H Wojcik , Mauricio R Delgado , Sally A Lynch , Stephen W Scherer , Jennifer L Howe , Stephanie DiTroia , Grace E VanNoy , Anne O'Donnell-Luria , Seema R Lalani , William D Graf , Jill A Rosenfeld , Evan E Eichler , Rachel K Earl , Daryl A Scott

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 , Akela Kuwahara , Jeffrey O Bush , Xiaonan Zhao , Pamela N Luna , Chad A Shaw , Jill A Rosenfeld , Daryl A Scott

De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement.

American journal of human genetics
Avec: Shenzhao Lu , Mengqi Ma , Xiao Mao , Joseph Jankovic , V Reid Sutton , James A Bartley , Xueying Wang , Jill A Rosenfeld , Ana Beleza-Meireles , Jaynee Chauhan , Xueyang Pan , Megan Li , Pengfei Liu , Katrina Prescott , Sam Amin , George Davies , Michael F Wangler , Yuwei Dai , Hugo J Bellen

Improving access to exome sequencing in a medically underserved population through the Texome Project.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Blake Vuocolo , Ryan J German , Seema R Lalani , Chaya N Murali , Stephanie Baskin , Rebecca Littlejohn , John D Odom , Scott McLean , Carrie Schmid , Morgan Nutter , Melissa Stuebben , Emily Magness , Olivia Juarez , Dina El Achi , Bailey Mitchell , Kevin E Glinton , Laurie Robak , Sandesh Cs Nagamani , Lisa Saba , Adasia Ritenour , Lilei Zhang , Haley Streff , Katie Chan , K Jordan Kemere , Kent Carter , Auteur inconnu , Nichole Owen , Liesbeth Vossaert , Pengfei Liu , Hugo Bellen , Michael Wangler

Persistent growth-promoting effects of vosoritide in children with achondroplasia are accompanied by improvements in physical and social aspects of health-related quality of life.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Ravi Savarirayan , Melita Irving , William R Wilcox , Julie E Hoover-Fong , Paul Harmatz , Lynda E Polgreen , Klaus Mohnike , Carlos E Prada , Takuo Kubota , Paul Arundel , Antonio Leiva-Gea , Richard Rowell , Andrea Low , Ian Sabir , Alice Huntsman-Labed , Jonathan Day

Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings.

Genomics
Avec: Qian Liu , Justyna A Karolak , Christopher M Grochowski , Theresa A Wilson , Jill A Rosenfeld , Seema R Lalani , Ankita Patel , Amy Breman , Janice L Smith , Sau Wai Cheung , James R Lupski , Weimin Bi , Pawel Stankiewicz

Agenesis of the corpus callosum and hepatoblastoma.

American journal of medical genetics. Part A
Avec: Taylor M Luckie , Samara L Potter , Rachana Shah , Andras Heczey , Rajkumar Venkatramani

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.

Genome medicine
Avec: Avinash V Dharmadhikari , Rajarshi Ghosh , Bo Yuan , Pengfei Liu , Hongzheng Dai , Sami Al Masri , Jennifer Scull , Jennifer E Posey , Allen H Jiang , Weimin He , Francesco Vetrini , Alicia A Braxton , Patricia Ward , Theodore Chiang , Chunjing Qu , Shen Gu , Chad A Shaw , Janice L Smith , Seema Lalani , Pawel Stankiewicz , Sau-Wai Cheung , Ankita Patel , Amy M Breman , Xia Wang , Linyan Meng , Rui Xiao , Fan Xia , Donna Muzny , Richard A Gibbs , Arthur L Beaudet , Christine M Eng , James R Lupski , Yaping Yang , Weimin Bi

Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Bertrand Isidor , Frédéric Ebstein , Anna Hurst , Marie Vincent , Ingrid Bader , Natasha L Rudy , Benjamin Cogne , Johannes Mayr , Anja Brehm , Caleb Bupp , Kathryn Warren , Amanda Gerard , Judith D Ranells , Kay A Metcalfe , Yolande van Bever , Yong-Hui Jiang , Bryce A Mendelssohn , Heidi Cope , Jill A Rosenfeld , Patrick R Blackburn , McKinsey L Goodenberger , Hutton M Kearney , Joanna Kennedy , Ingrid Scurr , Krzysztof Szczaluba , Rafal Ploski , Anne de Saint Martin , Yves Alembik , Amélie Piton , Ange-Line Bruel , Christel Thauvin-Robinet , Alanna Strong , Karin E M Diderich , Dominique Bourgeois , Karin Dahan , Virginie Vignard , Dominique Bonneau , Estelle Colin , Magalie Barth , Caroline Camby , Geneviève Baujat , Ignacio Briceño , Alberto Gómez , Wallid Deb , Solène Conrad , Thomas Besnard , Stéphane Bézieau , Elke Krüger , Sébastien Küry , PaweƗ Stankiewicz

Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Ravi Savarirayan , Louise Tofts , Melita Irving , William R Wilcox , Julie Hoover-Fong , Rosendo Ullot Font , Paul Harmatz , Frank Rutsch , Michael B Bober , Lynda E Polgreen , Ignacio Ginebreda , Klaus Mohnike , Joel Charrow , Daniel Hoernschemeyer , Keiichi Ozono , Yasemin Alanay , Paul Arundel , Yumiko Kotani , Natsuo Yasui , Klane K White , Howard M Saal , Antonio Leiva-Gea , Felipe Luna-González , Hiroshi Mochizuki , Donald Basel , Dania M Porco , Kala Jayaram , Elena Fisheleva , Alice Huntsman-Labed , Jonathan R S Day

Once-weekly TransCon CNP (navepegritide) in children with achondroplasia (ACcomplisH): a phase 2, multicentre, randomised, double-blind, placebo-controlled, dose-escalation trial.

EClinicalMedicine
Avec: Ravi Savarirayan , Daniel G Hoernschemeyer , Merete Ljungberg , Yuri A Zarate , Michael B Bober , Janet M Legare , Wolfgang Högler , Teresa Quattrin , M Jennifer Abuzzahab , Paul L Hofman , Klane K White , Nina S Ma , Dirk Schnabel , Sérgio B Sousa , Meng Mao , Alden Smith , Mukta Chakraborty , Adebola Giwa , Bent Winding , Birgitte Volck , Aimee D Shu , Ciara McDonnell

Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Ravi Savarirayan , Melita Irving , Paul Harmatz , Borja Delgado , William R Wilcox , John Philips , Natalie Owen , Louise Tofts , Joel Charrow , Lynda E Polgreen , Julie Hoover-Fong , Paul Arundel , Ignacio Ginebreda , Howard M Saal , Donald Basel , Rosendo Ullot Font , Keiichi Ozono , Michael B Bober , Valerie Cormier-Daire , Kim-Hanh Le Quan Sang , Genevieve Baujat , Yasemin Alanay , Frank Rutsch , Daniel Hoernschemeyer , Klaus Mohnike , Hiroshi Mochizuki , Asako Tajima , Yumiko Kotani , David D Weaver , Klane K White , Clare Army , Kevin Larrimore , Keith Gregg , George Jeha , Claire Milligan , Elena Fisheleva , Alice Huntsman-Labed , Jonathan Day

Recurrent carotid paragangliomas in a syndromic patient with a heterozygous missense variant in DNA Methyltransferase 3 Alpha.

American journal of medical genetics. Part A
Avec: Ryan J German , Blake Vuocolo , Liesbeth Vossaert , Lisa Saba , Robin Fletcher , Matthew L Tedder , Bekim Sadikovic , Jennifer Kerkhof , Michael Wangler , Auteur inconnu

MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability.

American journal of medical genetics. Part A
Avec: Eric C Kao , Elizabeth A Mizerik , Hongzheng Dai , Liesbeth Vossaert , Daryl A Scott

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Human mutation
Avec: Bobby G Ng , Paulina Sosicka , Satish Agadi , Mohammed Almannai , Rita Barone , Lorenzo D Botto , Jennifer E Burton , Colleen Carlston , Brian Hon-Yin Chung , Julie S Cohen , David Coman , Katrina M Dipple , Naghmeh Dorrani , William B Dobyns , Abdallah F Elias , Leon Epstein , William A Gahl , Domenico Garozzo , Trine Bjørg Hammer , Jaclyn Haven , Delphine Héron , Matthew Herzog , George E Hoganson , Jesse M Hunter , Mahim Jain , Jane Juusola , Shenela Lakhani , Hane Lee , Joy Lee , Katherine Lewis , Nicola Longo , Charles Marques Lourenço , Christopher C Y Mak , Dianalee McKnight , Bryce A Mendelsohn , Cyril Mignot , Ghayda Mirzaa , Wendy Mitchell , Hiltrud Muhle , Stanley F Nelson , Mariusz Olczak , Christina G S Palmer , Arthur Partikian , Marc C Patterson , Tyler M Pierson , Shane C Quinonez , Brigid M Regan , M Elizabeth Ross , Maria J Guillen Sacoto , Fernando Scaglia , Ingrid E Scheffer , Devorah Segal , Nilika Shah Singhal , Pasquale Striano , Luisa Sturiale , Joseph D Symonds , Sha Tang , Eric Vilain , Mary Willis , Lynne A Wolfe , Hui Yang , Shoji Yano , Zöe Powis , Sharon F Suchy , Jill A Rosenfeld , Andrew C Edmondson , Stephanie Grunewald , Hudson H Freeze

Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature.

American journal of medical genetics. Part A
Avec: Maureen Handoko , Lisa T Emrick , Jill A Rosenfeld , Xia Wang , Alyssa A Tran , Alicia Turner , John W Belmont , Auteur inconnu , Brendan H Lee , Hsiao-Tuan Chao

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Ash Zawerton , Cyril Mignot , Ashley Sigafoos , Patrick R Blackburn , Abdul Haseeb , Kirsty McWalter , Shoji Ichikawa , Caroline Nava , Boris Keren , Perrine Charles , Isabelle Marey , Anne-Claude Tabet , Jonathan Levy , Laurence Perrin , Andreas Hartmann , Gaetan Lesca , Caroline Schluth-Bolard , Pauline Monin , Sophie Dupuis-Girod , Maria J Guillen Sacoto , Rhonda E Schnur , Zehua Zhu , Alice Poisson , Salima El Chehadeh , Yves Alembik , Ange-Line Bruel , Daphné Lehalle , Sophie Nambot , Sébastien Moutton , Sylvie Odent , Sylvie Jaillard , Christèle Dubourg , Yvonne Hilhorst-Hofstee , Tina Barbaro-Dieber , Lucia Ortega , Elizabeth J Bhoj , Diane Masser-Frye , Lynne M Bird , Kristin Lindstrom , Keri M Ramsey , Vinodh Narayanan , Emily Fassi , Marcia Willing , Trevor Cole , Claire G Salter , Rhoda Akilapa , Anthony Vandersteen , Natalie Canham , Patrick Rump , Erica H Gerkes , Jolien S Klein Wassink-Ruiter , Emilia Bijlsma , Mariëtte J V Hoffer , Marcelo Vargas , Antonina Wojcik , Florian Cherik , Christine Francannet , Jill A Rosenfeld , Keren Machol , Daryl A Scott , Xia Wang , Gary D Clark , Marta Bertoli , Simon Zwolinski , Rhys H Thomas , Ela Akay , Richard C Chang , Rebekah Bressi , Rossana Sanchez Russo , Myriam Srour , Laura Russell , Anne-Marie E Goyette , Lucie Dupuis , Roberto Mendoza-Londono , Catherine Karimov , Maries Joseph , Mathilde Nizon , Benjamin Cogné , Alma Kuechler , Amélie Piton , Auteur inconnu , Eric W Klee , Véronique Lefebvre , Karl J Clark , Christel Depienne

Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial.

Lancet (London, England)
Avec: Ravi Savarirayan , Louise Tofts , Melita Irving , William Wilcox , Julie Hoover-Fong , Rosendo Ullot Font , Paul Harmatz , Frank Rutsch , Michael B Bober , Lynda E Polgreen , Ignacio Ginebreda , Klaus Mohnike , Joel Charrow , Daniel Hoernschemeyer , Keiichi Ozono , Yasemin Alanay , Paul Arundel , Shoji Kagami , Natsuo Yasui , Klane K White , Howard M Saal , Antonio Leiva-Gea , Felipe Luna-González , Hiroshi Mochizuki , Donald Basel , Dania M Porco , Kala Jayaram , Elena Fisheleva , Alice Huntsman-Labed , Jonathan Day

Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome.

American journal of medical genetics. Part A
Avec: Philip M Boone , Scott Paterson , Kiana Mohajeri , Wenmiao Zhu , Casie A Genetti , Derek J C Tai , Neeharika Nori , Pankaj B Agrawal , Weimin Bi , Michael E Talkowski , Benjamin M Hogan , Lance H Rodan

Anxiety in Angelman Syndrome.

American journal on intellectual and developmental disabilities
Avec: Stacey C Grebe , Danica L Limon , Morgan M McNeel , Andrew Guzick , Sarika U Peters , Wen-Hann Tan , Anjali Sadhwani , Lynne M Bird , Rodney C Samaco , Leandra N Berry , Wayne K Goodman , Sophie C Schneider , Eric A Storch

A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome.

Molecular genetics & genomic medicine
Avec: Jessica Duis , Mark Nespeca , Jane Summers , Lynne Bird , Karen G C B Bindels-de Heus , M J Valstar , Marie-Claire Y de Wit , C Navis , Maartje Ten Hooven-Radstaake , Bianca M van Iperen-Kolk , Susan Ernst , Melina Dendrinos , Terry Katz , Gloria Diaz-Medina , Akshat Katyayan , Srishti Nangia , Ronald Thibert , Daniel Glaze , Christopher Keary , Karine Pelc , Nicole Simon , Anjali Sadhwani , Helen Heussler , Anne Wheeler , Caroline Woeber , Margaret DeRamus , Amy Thomas , Emily Kertcher , Lauren DeValk , Kristen Kalemeris , Kara Arps , Carol Baym , Nicole Harris , John P Gorham , Brenda L Bohnsack , Reid C Chambers , Sarah Harris , Henry G Chambers , Katherine Okoniewski , Elizabeth R Jalazo , Allyson Berent , Charles Williams , Anne Anderson

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

American journal of human genetics
Avec: Maimuna S Paul , Sydney L Michener , Hongling Pan , Hiuling Chan , Jessica M Pfliger , Jill A Rosenfeld , Vanesa C Lerma , Alyssa Tran , Megan A Longley , Richard A Lewis , Monika Weisz-Hubshman , Mir Reza Bekheirnia , Nasim Bekheirnia , Lauren Massingham , Michael Zech , Matias Wagner , Hartmut Engels , Kirsten Cremer , Elisabeth Mangold , Sophia Peters , Jessica Trautmann , Jessica L Mester , Maria J Guillen Sacoto , Richard Person , Pamela P McDonnell , Stacey R Cohen , Laina Lusk , Ana S A Cohen , Jean-Baptiste Le Pichon , Tomi Pastinen , Dihong Zhou , Kendra Engleman , Caroline Racine , Laurence Faivre , Sébastien Moutton , Anne-Sophie Denommé-Pichon , Hyun Yong Koh , Annapurna Poduri , Jeffrey Bolton , Cordula Knopp , Dong Sun Julia Suh , Andrea Maier , Mehran Beiraghi Toosi , Ehsan Ghayoor Karimiani , Reza Maroofian , Gerald Bradley Schaefer , Vijayalakshmi Ramakumaran , Pradeep Vasudevan , Chitra Prasad , Matthew Osmond , Sarah Schuhmann , Georgia Vasileiou , Sophie Russ-Hall , Ingrid E Scheffer , Gemma L Carvill , Heather Mefford , Auteur inconnu , Brendan H Lee , Hsiao-Tuan Chao

Intrafamilial phenotypic heterogeneity in siblings with pseudohypoparathyroidism 1B due to maternal

Journal of pediatric endocrinology & metabolism : JPEM
Avec: John Odom , Lefkothea P Karaviti , Weimin Bi , Alfonso Hoyos-Martinez

Sudden infant death with dysgenesis of the testes syndrome in a non-Amish infant: A case report.

American journal of medical genetics. Part A
Avec: Brady Slater , Kevin Glinton , Hongzheng Dai , Erica Lay , Lefkothea Karaviti , Elizabeth Mizerik , Chaya N Murali , Seema R Lalani , Linda Z Rossetti

Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomaly.

European journal of medical genetics
Avec: Nishitha R Pillai , Dana Marafi , Sonia A Monteiro , Mered Parnes , Binoy Mathew Chandy , Ankita Patel , Amy M Breman , Lindsay C Burrage

C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia.

The New England journal of medicine
Avec: Ravi Savarirayan , Melita Irving , Bret Bostwick , Joel Charrow , Valerie Cormier-Daire , Kim-Hanh Le Quan Sang , Patricia Dickson , Paul Harmatz , John Phillips , Natalie Owen , Anu Cherukuri , Kala Jayaram , George S Jeha , Kevin Larimore , Ming-Liang Chan , Alice Huntsman Labed , Jonathan Day , Julie Hoover-Fong

Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities.

American journal of medical genetics. Part A
Avec: Ender Karaca , Jennifer E Posey , Bret Bostwick , Pengfei Liu , Alper Gezdirici , Gozde Yesil , Zeynep Coban Akdemir , Yavuz Bayram , Frederike L Harms , Peter Meinecke , Malik Alawi , V Reid Sutton , Fanny Kortüm , James R Lupski

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

American journal of human genetics
Avec: Raphael Carapito , Ekaterina L Ivanova , Aurore Morlon , Linyan Meng , Anne Molitor , Eva Erdmann , Bruno Kieffer , Angélique Pichot , Lydie Naegely , Aline Kolmer , Nicodème Paul , Antoine Hanauer , Frédéric Tran Mau-Them , Nolwenn Jean-Marçais , Susan M Hiatt , Gregory M Cooper , Tatiana Tvrdik , Alison M Muir , Clémantine Dimartino , Maya Chopra , Jeanne Amiel , Christopher T Gordon , Fabien Dutreux , Aurore Garde , Christel Thauvin-Robinet , Xia Wang , Magalie S Leduc , Meredith Phillips , Heather P Crawford , Mary K Kukolich , David Hunt , Victoria Harrison , Mira Kharbanda , Auteur inconnu , Auteur inconnu , Robert Smigiel , Nina Gold , Christina Y Hung , David H Viskochil , Sarah L Dugan , Pinar Bayrak-Toydemir , Géraldine Joly-Helas , Anne-Marie Guerrot , Caroline Schluth-Bolard , Marlène Rio , Ingrid M Wentzensen , Kirsty McWalter , Rhonda E Schnur , Andrea M Lewis , Seema R Lalani , Noël Mensah-Bonsu , Jocelyn Céraline , Zijie Sun , Rafal Ploski , Heather C Mefford , Laurence Faivre , Olaf Bodamer , Jamel Chelly , Bertrand Isidor , Seiamak Bahram

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 , 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

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

Genome medicine
Avec: Madelyn A Gillentine , Tianyun Wang , Kendra Hoekzema , Jill Rosenfeld , Pengfei Liu , Hui Guo , Chang N Kim , Bert B A De Vries , Lisenka E L M Vissers , Magnus Nordenskjold , Malin Kvarnung , Anna Lindstrand , Ann Nordgren , Jozef Gecz , Maria Iascone , Anna Cereda , Agnese Scatigno , Silvia Maitz , Ginevra Zanni , Enrico Bertini , Christiane Zweier , Sarah Schuhmann , Antje Wiesener , Micah Pepper , Heena Panjwani , Erin Torti , Farida Abid , Irina Anselm , Siddharth Srivastava , Paldeep Atwal , Gifty Bhat , Katherine Cobian , Lynne M Bird , Jennifer Friedman , Meredith S Wright , Bert Callewaert , Florence Petit , Sophie Mathieu , Alexandra Afenjar , Celenie K Christensen , Kerry M White , Orly Elpeleg , Itai Berger , Edward J Espineli , Christina Fagerberg , Charlotte Brasch-Andersen , Lars Kjærsgaard Hansen , Timothy Feyma , Susan Hughes , Isabelle Thiffault , Bonnie Sullivan , Shuang Yan , Kory Keller , Boris Keren , Cyril Mignot , Frank Kooy , Marije Meuwissen , Alice Basinger , Mary Kukolich , Meredith Philips , Lucia Ortega , Margaret Drummond-Borg , Mathilde Lauridsen , Kristina Sorensen , Anna Lehman , Auteur inconnu , Elena Lopez-Rangel , Paul Levy , Davor Lessel , Timothy Lotze , Suneeta Madan-Khetarpal , Jessica Sebastian , Jodie Vento , Divya Vats , L Manace Benman , Shane Mckee , Ghayda M Mirzaa , Candace Muss , John Pappas , Hilde Peeters , Corrado Romano , Maurizio Elia , Ornella Galesi , Marleen E H Simon , Koen L I van Gassen , Kara Simpson , Robert Stratton , Sabeen Syed , Julien Thevenon , Irene Valenzuela Palafoll , Antonio Vitobello , Marie Bournez , Laurence Faivre , Kun Xia , Auteur inconnu , Rachel K Earl , Tomasz Nowakowski , Raphael A Bernier , Evan E Eichler

Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing.

The Journal of clinical investigation
Avec: David R Murdock , Hongzheng Dai , Lindsay C Burrage , Jill A Rosenfeld , Shamika Ketkar , Michaela F Müller , Vicente A Yépez , Julien Gagneur , Pengfei Liu , Shan Chen , Mahim Jain , Gladys Zapata , Hsiao-Tuan Chao , Paolo Moretti , William J Craigen , Neil A Hanchard , Auteur inconnu , Brendan Lee

PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.

American journal of medical genetics. Part A
Avec: Christina L Magyar , David R Murdock , Lindsay C Burrage , Hongzheng Dai , Seema R Lalani , Richard A Lewis , Yuezhen Lin , Marcela F Astudillo , Jill A Rosenfeld , Alyssa A Tran , James B Gibson , Auteur inconnu , Brendan H Lee , Hsiao-Tuan Chao

Development of a Weight-Band Dosing Approach for Vosoritide in Children with Achondroplasia Using a Population Pharmacokinetic Model.

Clinical pharmacokinetics
Avec: Yulan Qi , Ming Liang Chan , Diane R Mould , Kevin Larimore , Elena Fisheleva , Anu Cherukuri , Jonathan Day , Ravi Savarirayan , Melita Irving , Julie Hoover-Fong , Keiichi Ozono , Klaus Mohnike , William R Wilcox , Michael B Bober , Joshua Henshaw

Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS).

Journal of neurodevelopmental disorders
Avec: Jorrit Tjeertes , Terry Jo Bichell , Lynne M Bird , Mariana Bustamante , Rebecca Crean , Shafali Jeste , Robert W Komorowski , Michelle L Krishnan , Meghan T Miller , David Nobbs , Cesar Ochoa-Lubinoff , Kimberly A Parkerson , Alexander Rotenberg , Anjali Sadhwani , Mark D Shen , Lisa Squassante , Wen-Hann Tan , Brenda Vincenzi , Anne C Wheeler , Joerg F Hipp , Elizabeth Berry-Kravis

Vosoritide therapy in children with achondroplasia aged 3-59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trial.

The Lancet. Child & adolescent health
Avec: Ravi Savarirayan , William R Wilcox , Paul Harmatz , John Phillips , Lynda E Polgreen , Louise Tofts , Keiichi Ozono , Paul Arundel , Melita Irving , Donald Basel , Michael B Bober , Joel Charrow , Hiroshi Mochizuki , Yumiko Kotani , Howard M Saal , Clare Army , George Jeha , Yulan Qi , Lynn Han , Elena Fisheleva , Alice Huntsman-Labed , Jonathan Day

YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Anne-Sophie Denommé-Pichon , Stephan C Collins , Ange-Line Bruel , Anna Mikhaleva , Christel Wagner , Valerie E Vancollie , Quentin Thomas , Martin Chevarin , Mathys Weber , Carlos E Prada , Alexis Overs , María Palomares-Bralo , Fernando Santos-Simarro , Marta Pacio-Míguez , Tiffany Busa , Eric Legius , Jill A Rosenfeld , Gwenaël Le Guyader , Matthieu Egloff , Xavier Le Guillou , Maria Antonietta Mencarelli , Alessandra Renieri , Salvatore Grosso , Jonathan Levy , Blandine Dozières , Isabelle Desguerre , Antonio Vitobello , Yannis Duffourd , Christopher J Lelliott , Christel Thauvin-Robinet , Christophe Philippe , Laurence Faivre , Binnaz Yalcin

Réseau de co-auteurs

Jill A Rosenfeld 21 collaborations
None None 20 collaborations
Ravi Savarirayan 10 collaborations
Pengfei Liu 9 collaborations
Lindsay C Burrage 8 collaborations
Weimin Bi 8 collaborations
Melita Irving 8 collaborations
Hongzheng Dai 8 collaborations
Seema R Lalani 7 collaborations
Jonathan Day 7 collaborations
Lynne M Bird 7 collaborations
Daryl A Scott 6 collaborations
Hsiao-Tuan Chao 6 collaborations
Elena Fisheleva 6 collaborations
Alice Huntsman-Labed 6 collaborations
Julie Hoover-Fong 6 collaborations
Keiichi Ozono 6 collaborations
Klaus Mohnike 6 collaborations
William R Wilcox 6 collaborations
Paul Harmatz 6 collaborations
Michael B Bober 6 collaborations
Brendan Lee 5 collaborations
David R Murdock 5 collaborations
Xia Wang 5 collaborations
Laurence Faivre 5 collaborations
Cyril Mignot 5 collaborations
Lynda E Polgreen 5 collaborations
Paul Arundel 5 collaborations
Joel Charrow 5 collaborations
Mahim Jain 4 collaborations
Kala Jayaram 4 collaborations
Shamika Ketkar 4 collaborations
Anjali Sadhwani 4 collaborations
Sarika U Peters 4 collaborations
Wen-Hann Tan 4 collaborations
Christine M Eng 4 collaborations
James R Lupski 4 collaborations
Christel Thauvin-Robinet 4 collaborations
Louise Tofts 4 collaborations
Klane K White 4 collaborations
Howard M Saal 4 collaborations
Hiroshi Mochizuki 4 collaborations
Donald Basel 4 collaborations
Lisa T Emrick 3 collaborations
Evan E Eichler 3 collaborations
Seema Lalani 3 collaborations
Yaping Yang 3 collaborations
Haley Streff 3 collaborations
Yulan Qi 3 collaborations
Kevin Larimore 3 collaborations
Anu Cherukuri 3 collaborations
George Jeha 3 collaborations
Lisa Emrick 3 collaborations
Richard A Lewis 3 collaborations
Bertrand Isidor 3 collaborations
Linyan Meng 3 collaborations
Donna Muzny 3 collaborations
Richard A Gibbs 3 collaborations
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Bo Yuan 2 collaborations
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Fan Xia 2 collaborations
Rui Xiao 2 collaborations
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