American journal of medical genetics. Part A

Keyphrases

Publications

volume 194, number 9, 2024

Fadi I Musfee, Goo Jun, Laura E Mitchell, Han Chen, Dongchuan Guo, Siddharth K Prakash, Shaunak Sanjay Adkar, Megan L Grove, Ryan Bohyun Choi, Derek Klarin, null null, Eric Boerwinkle, Dianna M Milewicz
X-linked genetic associations in sporadic thoracic aortic dissection. American journal of medical genetics. Part A 194 (9) (2024)
Albin Blanc, Céline Bonnet, Marion Wandzel, Virginie Roth, Yannis Duffourd, Hanna Safraou, Bruno Leheup, Florence Muller, Julie D Colne, François Feillet, Emmanuelle Schmitt, Matheus Castro, Jullian Savatt, Adriano Burcheri, Christophe Nemos, Christophe Philippe, Laëtitia Lambert
Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur-Chung neurodevelopmental syndrome. American journal of medical genetics. Part A 194 (9) (2024)
Suelen Dos Santos Henrique, Mariana Jordão França, Rui Carlos Silva Junior, Mara Lúcia Schmitz Ferreira Santos, Daniel Almeida do Valle
Neurodevelopmental disorder associated with gene ARF3: A case report. American journal of medical genetics. Part A 194 (9) (2024)
Kaitlin Morrison, Hitoshi Koshiya, Robert Safier, Amanda Brown, Carol May, Jerry Vockley, Lina Ghaloul-Gonzalez
Clinical case report of intractable paroxysmal sympathetic hyperactivity in TANGO2 deficiency disorder. American journal of medical genetics. Part A 194 (9) (2024)
Lewis B Holmes, Anne-Therese Hunt
Different fetal effects on fingers from exposure to phenytoin, phenobarbital, and carbamazepine. American journal of medical genetics. Part A 194 (9) (2024)
Kaitlin Morrison, Hitoshi Koshiya, Robert Safier, Amanda Brown, Carol May, Jerry Vockley, Lina Ghaloul-Gonzalez
Clinical case report of intractable paroxysmal sympathetic hyperactivity in TANGO2 deficiency disorder. American journal of medical genetics. Part A 194 (9) (2024)
Hasan Bas, Ceren Damla Durmaz, Merve Celenkoglu Tombak, Gokhan Ozan Cetin, Kadri Karaer
Filippi syndrome: Three new families suggest that urinary system abnormalities may belong to clinical spectrum of the disease. American journal of medical genetics. Part A 194 (9) (2024)
Narumi Motegi, Naho Morisaki, Akinori Moriichi
Trends in the survival of patients with trisomy 13 from 1995 to 2021: A population study in Japan. American journal of medical genetics. Part A 194 (9) (2024)
Laura T Forero, Riley Henderson, Carolina Galarreta, Steven Swee, Lynne M Bird
Expansion of the core features of VACTERL association to include genital anomalies. American journal of medical genetics. Part A 194 (9) (2024)
Saisuda Noojarern, Thipwimol Tim-Aroon, Kingthong Anurat, Tim Phetthong, Arthaporn Khongkraparn, Duangrurdee Wattanasirichaigoon
A novel AP1S2 variant causing leaky splicing in X-linked intellectual disability: Further delineation and intrafamilial variability. American journal of medical genetics. Part A 194 (9) (2024)
Pelin Özlem Şimşek-Kiper, Beren Karaosmanoğlu, Ekim Zihni Taşkiran, Özlem Boybeyi Türer, Gülen Eda Utine, Tutku Soyer
A novel GRK2 variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni hernia. American journal of medical genetics. Part A 194 (9) (2024)
Pelin Özlem Şimşek-Kiper, Beren Karaosmanoğlu, Ekim Zihni Taşkiran, Özlem Boybeyi Türer, Gülen Eda Utine, Tutku Soyer
A novel GRK2 variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni hernia. American journal of medical genetics. Part A 194 (9) (2024)
Takuya Ogawa, Jingyi Xue, Long Guo, Maristela Sayuri Inoue-Arai, Siulan Vendramini-Pittoli, Roseli Maria Zechi-Ceide, Rosana Maria Candido-Souza, Cristiano Tonello, Michele Madeira Brandão, Terumi Okada Ozawa, Adriano Porto Peixoto, Daniela Maria Cury Ferreira Ruiz, Tomoki Nakashima, Shiro Ikegawa, Keiji Moriyama, Nancy Mizue Kokitsu-Nakata
Identification of a de novo PUF60 variant associated with craniofacial microsomia. American journal of medical genetics. Part A 194 (9) (2024)
Emory Ryan, Samantha Nishimura, Grisel Lopez, Nahid Tayebi, Ellen Sidransky
Phenotypic consequences of GBA1 pathological variant R463C (p.R502C). American journal of medical genetics. Part A 194 (9) (2024)
Fadi I Musfee, Goo Jun, Laura E Mitchell, Han Chen, Dongchuan Guo, Siddharth K Prakash, Shaunak Sanjay Adkar, Megan L Grove, Ryan Bohyun Choi, Derek Klarin, null null, Eric Boerwinkle, Dianna M Milewicz
X-linked genetic associations in sporadic thoracic aortic dissection. American journal of medical genetics. Part A 194 (9) (2024)
Rikhil Makwana, Carolina Christ, Elaine Marchi, Randie Harpell, Gholson J Lyon
Longitudinal adaptive behavioral outcomes in Ogden syndrome by seizure status and therapeutic intervention. American journal of medical genetics. Part A 194 (9) (2024)
Yasuhiro Hirano, Yukiko Kuroda, Yumi Enomoto, Takuya Naruto, Koji Muroya, Kenji Kurosawa
Noonan syndrome-like phenotype associated with an ERF frameshift variant. American journal of medical genetics. Part A 194 (9) (2024)
Manjushree Shanmugasundaram, Amanda Wang, Megan Morand, Colin Bixler, Sangeeta Jain, Joseph Ray
Expanded prenatal phenotype of ALG12-associated congenital disorder of glycosylation including bilateral multicystic kidneys. American journal of medical genetics. Part A 194 (9) (2024)
Emory Ryan, Samantha Nishimura, Grisel Lopez, Nahid Tayebi, Ellen Sidransky
Phenotypic consequences of GBA1 pathological variant R463C (p.R502C). American journal of medical genetics. Part A 194 (9) (2024)
Fadi I Musfee, Goo Jun, Laura E Mitchell, Han Chen, Dongchuan Guo, Siddharth K Prakash, Shaunak Sanjay Adkar, Megan L Grove, Ryan Bohyun Choi, Derek Klarin, null null, Eric Boerwinkle, Dianna M Milewicz
X-linked genetic associations in sporadic thoracic aortic dissection. American journal of medical genetics. Part A 194 (9) (2024)
Berrak Bilginer Gürbüz, Basri Gülbakan, Rıza Köksal Özgül, Dilek Yalnızoğlu, Didem Yücel Yılmaz, Rahşan Gocmen, Can Koşukcu, Nurgun Kandemir, Neşe Vardar Acar, Bekir Salih, Ali Dursun
Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10. American journal of medical genetics. Part A 194 (9) (2024)
Nadia Falah, Surekha Pendyal, Cina Sasannejad, Allison Gibson, Yu Lin Lee, Marie McDonald, Dwight D Koeberl
The interplay of psychosis and non-compliance with fatal outcome in an adult with MSUD. American journal of medical genetics. Part A 194 (9) (2024)
Arianna Esposito, Marcello Niceta, Antonio Novelli, Monia Magliozzi, Giovanni Parlapiano, Anwar Baban, Marco Alfonso Perrone
Massive pericardial effusion in an infant with Aymé-Gripp syndrome: A case report and review of the literature. American journal of medical genetics. Part A 194 (9) (2024)
Sumihito Togi, Hiroki Ura, Yo Niida
Qualitative and quantitative analysis of MED12 c.887G>A causing both missense and splicing variants in X-linked Ohdo syndrome. American journal of medical genetics. Part A 194 (9) (2024)
Derya Kaya, Canan Ceylan Köse, Mehmet Berkay Akcan, Fatma Silan
A case report of a patient with neurodevelopmental disorder with impaired speech and hyperkinetic movements: A biallelic variant in the ZNF142 gene. American journal of medical genetics. Part A 194 (9) (2024)
Derya Kaya, Canan Ceylan Köse, Mehmet Berkay Akcan, Fatma Silan
A case report of a patient with neurodevelopmental disorder with impaired speech and hyperkinetic movements: A biallelic variant in the ZNF142 gene. American journal of medical genetics. Part A 194 (9) (2024)
Emory Ryan, Samantha Nishimura, Grisel Lopez, Nahid Tayebi, Ellen Sidransky
Phenotypic consequences of GBA1 pathological variant R463C (p.R502C). American journal of medical genetics. Part A 194 (9) (2024)
Sumihito Togi, Hiroki Ura, Yo Niida
Qualitative and quantitative analysis of MED12 c.887G>A causing both missense and splicing variants in X-linked Ohdo syndrome. American journal of medical genetics. Part A 194 (9) (2024)
Emory Ryan, Samantha Nishimura, Grisel Lopez, Nahid Tayebi, Ellen Sidransky
Phenotypic consequences of GBA1 pathological variant R463C (p.R502C). American journal of medical genetics. Part A 194 (9) (2024)
Aynur Küçükcongar Yavaş, Hacer Basan, Serpil Dinçer, Berrak Bilginer Gürbüz, Çiğdem Seher Kasapkara
Mitochondrial phosphate-carrier deficiency mimicking infantile-onset Pompe disease. American journal of medical genetics. Part A 194 (9) (2024)
Fadi I Musfee, Goo Jun, Laura E Mitchell, Han Chen, Dongchuan Guo, Siddharth K Prakash, Shaunak Sanjay Adkar, Megan L Grove, Ryan Bohyun Choi, Derek Klarin, null null, Eric Boerwinkle, Dianna M Milewicz
X-linked genetic associations in sporadic thoracic aortic dissection. American journal of medical genetics. Part A 194 (9) (2024)
Rikhil Makwana, Carolina Christ, Elaine Marchi, Randie Harpell, Gholson J Lyon
Longitudinal adaptive behavioral outcomes in Ogden syndrome by seizure status and therapeutic intervention. American journal of medical genetics. Part A 194 (9) (2024)
Rikhil Makwana, Carolina Christ, Elaine Marchi, Randie Harpell, Gholson J Lyon
Longitudinal adaptive behavioral outcomes in Ogden syndrome by seizure status and therapeutic intervention. American journal of medical genetics. Part A 194 (9) (2024)
Lewis B Holmes, Anne-Therese Hunt
Different fetal effects on fingers from exposure to phenytoin, phenobarbital, and carbamazepine. American journal of medical genetics. Part A 194 (9) (2024)
Carmen Oldenboom, Meggie M C M Drissen, Linde C M van Dongen, Tjitske Kleefstra, Judith B Prins, Jos I M Egger, Nicoline Hoogerbrugge
Neuropsychological functioning of adults with PTEN hamartoma tumor syndrome. American journal of medical genetics. Part A 194 (9) (2024)
Stephanie K L Ho, Samuel Y L Ng, Tsz-Kwai Yung, Myth T S Mok, Wing-Chung Yiu, Hiu Yee Heidi Cheng, Shirley S W Cheng, Ho-Ming Luk, Ivan F M Lo, Anita Sik Yau Kan
Clinical and molecular characteristics of hemophilia A affected individuals and carriers: A 24 years experience from three centers. American journal of medical genetics. Part A 194 (9) (2024)
Christopher S Smith, Madison Riddell, Lauren Badalato, Ping Yee Billie Au
Adults with paternal UPD14 causing Kagami-Ogata syndrome: Case report and review of the literature. American journal of medical genetics. Part A 194 (9) (2024)
Kaitlin Morrison, Hitoshi Koshiya, Robert Safier, Amanda Brown, Carol May, Jerry Vockley, Lina Ghaloul-Gonzalez
Clinical case report of intractable paroxysmal sympathetic hyperactivity in TANGO2 deficiency disorder. American journal of medical genetics. Part A 194 (9) (2024)
María Paula Silva Sánchez, Carolyn R Serbinski, Joel Charrow, Joshua J Baker, Carlos E Prada
Aminotransferase trends in propionic acidemia. American journal of medical genetics. Part A 194 (9) (2024)
Annabelle Arlt, Alexej Knaus, Tzung-Chien Hsieh, Hannah Klinkhammer, Meghna Ahuja Bhasin, Alexander Hustinx, Shahida Moosa, Peter M Krawitz, Ekanem N Ekure
Next-generation phenotyping in Nigerian children with Cornelia de Lange syndrome. American journal of medical genetics. Part A 194 (9) (2024)
Bertrand Chesneau, Patrick Calvas, Myriam Cassagne, Fanny Varenne, Jean-Michel Rozet, Fabrice Bonneville, Nicolas Chassaing, Pierre Fournié, Lucas Fares-Taie, Julie Plaisancié
ITPR1: The missing gene in miosis-ataxia syndrome? American journal of medical genetics. Part A 194 (9) (2024)
Nadia Falah, Surekha Pendyal, Cina Sasannejad, Allison Gibson, Yu Lin Lee, Marie McDonald, Dwight D Koeberl
The interplay of psychosis and non-compliance with fatal outcome in an adult with MSUD. American journal of medical genetics. Part A 194 (9) (2024)
Sabine Vautier, Jacques Mauillon, Nathalie Parodi, Jacqueline Bou, Edwige Kasper, Sandrine Manase, Claude Houdayer, Stéphanie Baert-Desurmont
SMAD4 mosaicism in juvenile polyposis: Essential contribution of somatic analysis in diagnosis. American journal of medical genetics. Part A 194 (9) (2024)
Gretchen MacCarrick, Swaroop Aradhya, Mitch Bailey, Dorna Chu, Abigail Hunt, Emanuela Izzo, Deborah Krakow, William Mackenzie, Sarah Poll, Cathleen Raggio, Renée Shediac, Klane K White, Heather M McLaughlin, Guillermo Seratti
Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date. American journal of medical genetics. Part A 194 (9) (2024)
Laura T Forero, Riley Henderson, Carolina Galarreta, Steven Swee, Lynne M Bird
Expansion of the core features of VACTERL association to include genital anomalies. American journal of medical genetics. Part A 194 (9) (2024)
Saisuda Noojarern, Thipwimol Tim-Aroon, Kingthong Anurat, Tim Phetthong, Arthaporn Khongkraparn, Duangrurdee Wattanasirichaigoon
A novel AP1S2 variant causing leaky splicing in X-linked intellectual disability: Further delineation and intrafamilial variability. American journal of medical genetics. Part A 194 (9) (2024)
Jenna Damon, Colby Chase, Tomoyasu Higashimoto
Primary amenorrhea in myotonic dystrophy type 1: Initial presentation versus incidental finding on whole genome sequencing. American journal of medical genetics. Part A 194 (9) (2024)
Aynur Küçükcongar Yavaş, Hacer Basan, Serpil Dinçer, Berrak Bilginer Gürbüz, Çiğdem Seher Kasapkara
Mitochondrial phosphate-carrier deficiency mimicking infantile-onset Pompe disease. American journal of medical genetics. Part A 194 (9) (2024)
Takuya Ogawa, Jingyi Xue, Long Guo, Maristela Sayuri Inoue-Arai, Siulan Vendramini-Pittoli, Roseli Maria Zechi-Ceide, Rosana Maria Candido-Souza, Cristiano Tonello, Michele Madeira Brandão, Terumi Okada Ozawa, Adriano Porto Peixoto, Daniela Maria Cury Ferreira Ruiz, Tomoki Nakashima, Shiro Ikegawa, Keiji Moriyama, Nancy Mizue Kokitsu-Nakata
Identification of a de novo PUF60 variant associated with craniofacial microsomia. American journal of medical genetics. Part A 194 (9) (2024)
Kaitlin Morrison, Hitoshi Koshiya, Robert Safier, Amanda Brown, Carol May, Jerry Vockley, Lina Ghaloul-Gonzalez
Clinical case report of intractable paroxysmal sympathetic hyperactivity in TANGO2 deficiency disorder. American journal of medical genetics. Part A 194 (9) (2024)