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Select item 105794871.

Jean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, Vincent Michaud, Benoit Arveiler, Patricia Fergelot, Jean Delmas, Boris Keren, Céline Poirsier, Fowzan S Alkuraya, Brahim Tabarki, Eric Bend, Kellie Davis, Martina Bebin, Michelle L Thompson, Emily M Bryant, Matias Wagner, Iris Hannibal, Jerica Lenberg, Martin Krenn, Kristen M Wigby, Jennifer R Friedman, Maria Iascone, Anna Cereda, Térence Miao, Eric LeGuern, Emanuela Argilli, Elliott Sherr, Oana Caluseriu, Timothy Tidwell, Pinar Bayrak-Toydemir, Caroline Hagedorn, Melanie Brugger, Katharina Vill, Francois-Dominique Morneau-Jacob, Wendy Chung, Kathryn N Weaver, Joshua W Owens, Ammar Husami, Bimal P Chaudhari, Brandon S Stone, Katie Burns, Rachel Li, Iris M de Lange, Margaux Biehler, Emmanuelle Ginglinger, Bénédicte Gérard, Rolf W Stottmann, Aurélien Trimouille

J Med Genet. 2023 Oct; 60(10): 999–1005. Published online 2023 Apr 25. doi: 10.1136/jmg-2022-108803

PMCID:: PMC10579487

Article PDF–4.3M

Select item 98015472.

Intestinal malrotation in a female newborn affected by Osteopathia Striata with Cranial Sclerosis due to a de novo heterozygous nonsense mutation of the AMER1 gene

Gregorio Serra, Vincenzo Antona, Maria Rita Di Pace, Mario Giuffrè, Giusy Morgante, Ettore Piro, Roberto Pirrello, Sergio Salerno, Ingrid Anne Mandy Schierz, Vincenzo Verde, Giovanni Corsello

Ital J Pediatr. 2022; 48: 206. Published online 2022 Dec 29. doi: 10.1186/s13052-022-01403-6

PMCID:: PMC9801547

Article PDF–1.2M

Select item 96323613.

A novel large in-frame FBN1 deletion causes neonatal Marfan syndrome

Sümeyye Elgaz, Boris Wittekindt, Anoosh Esmaeili, Sebastian Fischer, Hanno J. Bolz, Ulrich Zechner, Horst Buxmann

Cold Spring Harb Mol Case Stud. 2022 Oct; 8(6): a006213. doi: 10.1101/mcs.a006213

PMCID:: PMC9632361

Article PDF–2.6M

Select item 87011474.

A Case of Inherited t(4;10)(q26;q26.2) Chromosomal Translocation Elucidated by Multiple Chromosomal and Molecular Analyses. Case Report and Review of the Literature

Roxana Popescu, Mihaela Grămescu, Lavinia Caba, Monica-Cristina Pânzaru, Lăcrămioara Butnariu, Elena Braha, Setalia Popa, Cristina Rusu, Georgeta Cardos, Monica Zeleniuc, Violeta Martiniuc, Cristina Gug, Luminiţa Păduraru, Maria Stamatin, Carmen C. Diaconu, Eusebiu Vlad Gorduza

Genes (Basel) 2021 Dec; 12(12): 1957. Published online 2021 Dec 7. doi: 10.3390/genes12121957

PMCID:: PMC8701147

Article PDF–3.7M

Select item 81837505.

Admixed phenotype of NEDD4L associated periventricular nodular heterotopia: A case report

Martina Pecimonova, Jan Radvanszky, David Smolak, Jaroslav Budis, Michal Lichvar, Diana Kristinova, Ivica Rozova, Jan Turna, Tomas Szemes

Medicine (Baltimore) 2021 Jun 4; 100(22): e26136. Published online 2021 Jun 4. doi: 10.1097/MD.0000000000026136

PMCID:: PMC8183750

Article PDF–783K

Select item 81364676.

Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1

Daniel R. Carvalho, Carlos E. Speck-Martins, Jaime M. Brum, Carlos R. Ferreira, Nara L. M. Sobreira

Am J Med Genet A. Author manuscript; available in PMC 2021 May 20.

Published in final edited form as: Am J Med Genet A. 2020 Jul; 182(7): 1796–1800. Published online 2020 May 18. doi: 10.1002/ajmg.a.61614

PMCID:: PMC8136467

Article PDF–499K

Select item 77844877.

Novel de novo ARCN1 intronic variant causes rhizomelic short stature with microretrognathia and developmental delay

Timothy Tidwell, Malia Deshotel, Janice Palumbos, Chris Miller, Pinar Bayrak-Toydemir, John C. Carey

Cold Spring Harb Mol Case Stud. 2020 Dec; 6(6): a005728. doi: 10.1101/mcs.a005728

PMCID:: PMC7784487

Article PDF–2.6M

Select item 74347448.

Extension of the phenotypic spectrum of GLE1‐related disorders to a mild congenital form resembling congenital myopathy

Mathieu Cerino, Chloé Di Meglio, Francesca Albertini, Frédérique Audic, Florence Riccardi, Christophe Boulay, Nicole Philip, Marc Bartoli, Nicolas Lévy, Martin Krahn, Brigitte Chabrol

Mol Genet Genomic Med. 2020 Aug; 8(8): e1277. Published online 2020 Jun 14. doi: 10.1002/mgg3.1277

PMCID:: PMC7434744

Article PDF–500K

Select item 73043559.

De novo duplication on Chromosome 19 observed in nuclear family displaying neurodevelopmental disorders

Calvin P. Sjaarda, Beatrice Kaiser, Amy J.M. McNaughton, Melissa L. Hudson, Liam Harris-Lowe, Kyle Lou, Andrea Guerin, Muhammad Ayub, Xudong Liu

Cold Spring Harb Mol Case Stud. 2020 Jun; 6(3): a004721. doi: 10.1101/mcs.a004721

PMCID:: PMC7304355

Article PDF–6.1M

Select item 713374710.

The tale of two genes: from next-generation sequencing to phenotype

Mersedeh Rohanizadegan, Aishwarya Siddharath, Kyle Retterer, Christina Hung, Olaf Bodamer

Cold Spring Harb Mol Case Stud. 2020 Apr; 6(2): a004846. doi: 10.1101/mcs.a004846

PMCID:: PMC7133747

Article PDF–3.0M

Select item 607156511.

Co-occurrence of a maternally inherited DNMT3A duplication and a paternally inherited pathogenic variant in EZH2 in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a DNMT3A dosage effect?

Katarzyna Polonis, Patrick R. Blackburn, Raul A. Urrutia, Gwen A. Lomberk, Teresa Kruisselbrink, Margot A. Cousin, Nicole J. Boczek, Nicole L. Hoppman, Dusica Babovic-Vuksanovic, Eric W. Klee, Pavel N. Pichurin

Cold Spring Harb Mol Case Stud. 2018 Aug; 4(4): a002899. doi: 10.1101/mcs.a002899

PMCID:: PMC6071565

Article PDF–5.8M

Select item 596326912.

Desmosterolosis presenting with multiple congenital anomalies

Mersedeh Rohanizadegan, Stephanie Sacharow

Eur J Med Genet. Author manuscript; available in PMC 2018 May 22.

Published in final edited form as: Eur J Med Genet. 2018 Mar; 61(3): 152–156. Published online 2017 Nov 23. doi: 10.1016/j.ejmg.2017.11.009

PMCID:: PMC5963269

Article PDF–254K

Select item 594148913.

A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature

C. S. Paththinige, N. D. Sirisena, U. G. I. U. Kariyawasam, R. C. Ediriweera, P. Kruszka, M. Muenke, V. H. W. Dissanayake

BMC Med Genomics. 2018; 11: 44. Published online 2018 May 8. doi: 10.1186/s12920-018-0366-6

PMCID:: PMC5941489

Article PDF–3.2M

Select item 570130414.

Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype–phenotype correlation, and phenotypic expansion of the Bosch–Boonstra–Schaaf optic atrophy syndrome

Charu Kaiwar, Michael T. Zimmermann, Matthew J. Ferber, Zhiyv Niu, Raul A. Urrutia, Eric W. Klee, Dusica Babovic-Vuksanovic

Cold Spring Harb Mol Case Stud. 2017 Nov; 3(6): a002162. doi: 10.1101/mcs.a002162

PMCID:: PMC5701304

Article PDF–9.1M

Select item 565404015.

De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report

Muna A. Al Dhaibani, Diane Allingham-Hawkins, Ayman W. El-Hattab

BMC Med Genet. 2017; 18: 118. Published online 2017 Oct 23. doi: 10.1186/s12881-017-0482-8

PMCID:: PMC5654040

Article PDF–644K

Select item 558838216.

A Novel Variant in the Endothelin-Converting Enzyme-Like 1 (ECEL1) Gene in an Emirati Child

Abdul Rezzak Hamzeh, Pratibha Nair, Madiha Mohamed, Fatima Saif, Nafisa Tawfiq, Mohamed Khalifa, Mahmoud Taleb Al-Ali, Fatma Bastaki

Med Princ Pract. 2017 Mar; 26(2): 195–198. Published online 2017 Jan 18. doi: 10.1159/000456034

PMCID:: PMC5588382

Article PDF–191K

Select item 541168817.

Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases

Patrick R. Blackburn, Sarah S. Barnett, Michael T. Zimmermann, Margot A. Cousin, Charu Kaiwar, Filippo Pinto e Vairo, Zhiyv Niu, Matthew J. Ferber, Raul A. Urrutia, Duygu Selcen, Eric W. Klee, Pavel N. Pichurin

Cold Spring Harb Mol Case Stud. 2017 May; 3(3): a001743. doi: 10.1101/mcs.a001743

PMCID:: PMC5411688

Article PDF–3.6M

Select item 457400218.

Meier-Gorlin syndrome

Sonja A. de Munnik, Elisabeth H. Hoefsloot, Jolt Roukema, Jeroen Schoots, Nine VAM Knoers, Han G. Brunner, Andrew P. Jackson, Ernie MHF Bongers

Orphanet J Rare Dis. 2015; 10: 114. Published online 2015 Sep 17. doi: 10.1186/s13023-015-0322-x

PMCID:: PMC4574002

Article PDF–789K

Select item 437541919.

Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features

Emma Tham, Anna Lindstrand, Avni Santani, Helena Malmgren, Addie Nesbitt, Holly A. Dubbs, Elaine H. Zackai, Michael J. Parker, Francisca Millan, Kenneth Rosenbaum, Golder N. Wilson, Ann Nordgren

Am J Hum Genet. 2015 Mar 5; 96(3): 507–513. doi: 10.1016/j.ajhg.2015.01.016

PMCID:: PMC4375419

Article PDF–912K

Select item 417008820.

Trisomy 1q41-qter and monosomy 3p26.3-pter in a family with a translocation (1;3): further delineation of the syndromes

Alicia Cervantes, Constanza García-Delgado, Fernando Fernández-Ramírez, Carolina Galaz-Montoya, Ariadna Berenice Morales-Jiménez, Karem Nieto-Martínez, Laura Gómez-Laguna, Judith Villa-Morales, Mónica Quintana-Palma, Jaime Berúmen, Susana Kofman, Verónica F Morán-Barroso

BMC Med Genomics. 2014; 7: 55. Published online 2014 Sep 15. doi: 10.1186/1755-8794-7-55

PMCID:: PMC4170088

Article PDF–2.2M

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