Anne M Slavotinek (Anne Slavotinek, A M Slavotinek)

ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 41

Top Venues

American journal of medical genetics. Part A

Human genetics

Clinical genetics

NPJ genomic medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Thoa Ha, Angela Morgan, Meghan N Bartos, Katelyn Beatty, Benjamin Cogné, Dominique Braun, Céline B Gerber, Harald Gaspar, Anna M Kopps, Claudine Rieubland, Anna C E Hurst, David J Amor, Mathilde Nizon, Laurent Pasquier, Rolph Pfundt, André Reis, Victoria Mok Siu, Marine Tessarech, Michelle L Thompson, Marie Vincent, Bert B A de Vries, Matthew B Walsh, Stephanie Burns Wechsler, Christiane Zweier, Rhonda E Schnur, Maria J Guillen Sacoto, Henri Margot, Barbara Masotto, Maria Irene Valenzuela Palafoll, Urwah Nawaz, Irina Voineagu, Anne M Slavotinek
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay. American journal of medical genetics. Part A 194 (7) (2024)
Balram Gangaram, Virgina Lee, Anne M Slavotinek
Biallelic OTUD6B variants associated with a Kabuki syndrome-like disorder in three siblings: A clinical report and literature review. American journal of medical genetics. Part A 194 (7) (2024)
Thoa Ha, Angela Morgan, Meghan N Bartos, Katelyn Beatty, Benjamin Cogné, Dominique Braun, Céline B Gerber, Harald Gaspar, Anna M Kopps, Claudine Rieubland, Anna C E Hurst, David J Amor, Mathilde Nizon, Laurent Pasquier, Rolph Pfundt, André Reis, Victoria Mok Siu, Marine Tessarech, Michelle L Thompson, Marie Vincent, Bert B A de Vries, Matthew B Walsh, Stephanie Burns Wechsler, Christiane Zweier, Rhonda E Schnur, Maria J Guillen Sacoto, Henri Margot, Barbara Masotto, Maria Irene Valenzuela Palafoll, Urwah Nawaz, Irina Voineagu, Anne M Slavotinek
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay. American journal of medical genetics. Part A 194 (7) (2024)
Balram Gangaram, Virgina Lee, Anne M Slavotinek
Biallelic OTUD6B variants associated with a Kabuki syndrome-like disorder in three siblings: A clinical report and literature review. American journal of medical genetics. Part A 194 (7) (2024)
Thoa Ha, Angela Morgan, Meghan N Bartos, Katelyn Beatty, Benjamin Cogné, Dominique Braun, Céline B Gerber, Harald Gaspar, Anna M Kopps, Claudine Rieubland, Anna C E Hurst, David J Amor, Mathilde Nizon, Laurent Pasquier, Rolph Pfundt, André Reis, Victoria Mok Siu, Marine Tessarech, Michelle L Thompson, Marie Vincent, Bert B A de Vries, Matthew B Walsh, Stephanie Burns Wechsler, Christiane Zweier, Rhonda E Schnur, Maria J Guillen Sacoto, Henri Margot, Barbara Masotto, Maria Irene Valenzuela Palafoll, Urwah Nawaz, Irina Voineagu, Anne M Slavotinek
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay. American journal of medical genetics. Part A (2024)
Thoa Ha, Angela Morgan, Meghan N Bartos, Katelyn Beatty, Benjamin Cogné, Dominique Braun, Céline B Gerber, Harald Gaspar, Anna M Kopps, Claudine Rieubland, Anna C E Hurst, David J Amor, Mathilde Nizon, Laurent Pasquier, Rolph Pfundt, André Reis, Victoria Mok Siu, Marine Tessarech, Michelle L Thompson, Marie Vincent, Bert B A de Vries, Matthew B Walsh, Stephanie Burns Wechsler, Christiane Zweier, Rhonda E Schnur, Maria J Guillen Sacoto, Henri Margot, Barbara Masotto, Maria Irene Valenzuela Palafoll, Urwah Nawaz, Irina Voineagu, Anne M Slavotinek
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay. American journal of medical genetics. Part A 194 (7) (2024)
Balram Gangaram, Virgina Lee, Anne M Slavotinek
Biallelic OTUD6B variants associated with a Kabuki syndrome-like disorder in three siblings: A clinical report and literature review. American journal of medical genetics. Part A 194 (7) (2024)
Balram Gangaram, Virgina Lee, Anne M Slavotinek
Biallelic OTUD6B variants associated with a Kabuki syndrome-like disorder in three siblings: A clinical report and literature review. American journal of medical genetics. Part A 194 (7) (2024)
Thoa Ha, Angela Morgan, Meghan N Bartos, Katelyn Beatty, Benjamin Cogné, Dominique Braun, Céline B Gerber, Harald Gaspar, Anna M Kopps, Claudine Rieubland, Anna C E Hurst, David J Amor, Mathilde Nizon, Laurent Pasquier, Rolph Pfundt, André Reis, Victoria Mok Siu, Marine Tessarech, Michelle L Thompson, Marie Vincent, Bert B A de Vries, Matthew B Walsh, Stephanie Burns Wechsler, Christiane Zweier, Rhonda E Schnur, Maria J Guillen Sacoto, Henri Margot, Barbara Masotto, Maria Irene Valenzuela Palafoll, Urwah Nawaz, Irina Voineagu, Anne M Slavotinek
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay. American journal of medical genetics. Part A (2024)
Balram Gangaram, Virgina Lee, Anne M Slavotinek
Biallelic OTUD6B variants associated with a Kabuki syndrome-like disorder in three siblings: A clinical report and literature review. American journal of medical genetics. Part A (2024)
Kristen Wigby, Monia Hammer, Mari Tokita, Priyanka Patel, Marilyn C Jones, Austin Larson, Frances Velez Bartolomei, Natalie Dykzeul, Anne M Slavotinek, Tiffany Yip, Sara Bandres-Ciga, Brittany N Simpson, Kristen Suhrie, Suma Shankar, Regan Veith, Jennifer Bragg, Cynthia Powell, Stephen F Kingsmore, David Dimmock, Jill Maron, Jonathan Davis, Miguel Del Campo
Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing. American journal of medical genetics. Part A 191 (4) (2023)
Kristen Wigby, Monia Hammer, Mari Tokita, Priyanka Patel, Marilyn C Jones, Austin Larson, Frances Velez Bartolomei, Natalie Dykzeul, Anne M Slavotinek, Tiffany Yip, Sara Bandres-Ciga, Brittany N Simpson, Kristen Suhrie, Suma Shankar, Regan Veith, Jennifer Bragg, Cynthia Powell, Stephen F Kingsmore, David Dimmock, Jill Maron, Jonathan Davis, Miguel Del Campo
Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing. American journal of medical genetics. Part A 191 (4) (2023)
Kristen Wigby, Monia Hammer, Mari Tokita, Priyanka Patel, Marilyn C Jones, Austin Larson, Frances Velez Bartolomei, Natalie Dykzeul, Anne M Slavotinek, Tiffany Yip, Sara Bandres-Ciga, Brittany N Simpson, Kristen Suhrie, Suma Shankar, Regan Veith, Jennifer Bragg, Cynthia Powell, Stephen F Kingsmore, David Dimmock, Jill Maron, Jonathan Davis, Miguel Del Campo
Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing. American journal of medical genetics. Part A (2023)
Kristen Wigby, Monia Hammer, Mari Tokita, Priyanka Patel, Marilyn C Jones, Austin Larson, Frances Velez Bartolomei, Natalie Dykzeul, Anne M Slavotinek, Tiffany Yip, Sara Bandres-Ciga, Brittany N Simpson, Kristen Suhrie, Suma Shankar, Regan Veith, Jennifer Bragg, Cynthia Powell, Stephen F Kingsmore, David Dimmock, Jill Maron, Jonathan Davis, Miguel Del Campo
Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing. American journal of medical genetics. Part A 191 (4) (2023)
Katherine E Donohue, Catherine Gooch, Alexander Katz, Jessica Wakelee, Anne M Slavotinek, Bruce R Korf
Pitfalls and challenges in genetic test interpretation: An exploration of genetic professionals experience with interpretation of results. Clinical genetics 99 (5) (2022)
Korbinian Maria Riedhammer, Anna L Burgemeister, Vincent Cantagrel, Jeanne Amiel, Karine Siquier-Pernet, Nathalie Boddaert, Jozef Hertecant, Patricia L Kannouche, Caroline Pouvelle, Stephanie Htun, Anne M Slavotinek, Christian Beetz, Dan Diego-Alvarez, Kapil Kampe, Nicole Fleischer, Zain Awamleh, Rosanna Weksberg, Matthias Elstner, Thomas Meitinger, Jehan Suleiman, Ayman W. El-Hattab
Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency. Human molecular genetics 31 (18) (2022)
Monica Penon-Portmann, Ugur Hodoglugil, Wiita Arun P, Tiffany Yip, Anne M Slavotinek, Jessica L Tenney
TRAPPC9-related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomy. American journal of medical genetics. Part A (2022)
Monica Penon-Portmann, Ugur Hodoglugil, Wiita Arun P, Tiffany Yip, Anne M Slavotinek, Jessica L Tenney
TRAPPC9-related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomy. American journal of medical genetics. Part A 191 (4) (2022)
Monica Penon-Portmann, Ugur Hodoglugil, Wiita Arun P, Tiffany Yip, Anne M Slavotinek, Jessica L Tenney
TRAPPC9-related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomy. American journal of medical genetics. Part A 191 (4) (2022)
Monica Penon-Portmann, Ugur Hodoglugil, Wiita Arun P, Tiffany Yip, Anne M Slavotinek, Jessica L Tenney
TRAPPC9-related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomy. American journal of medical genetics. Part A 191 (4) (2022)
Hannah Kortbawi, Elizabeth G Ames, Amanda Pritchard, Patrick Devine, Jessica van Ziffle, Anne M Slavotinek
Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies. American journal of medical genetics. Part A 188 (8) (2022)
Anne M Slavotinek, Hannah Prasad, Tiffany Yip, Shannon Rego, Hannah Hoban, Mark Kvale
Predicting genes from phenotypes using human phenotype ontology (HPO) terms. Human genetics 141 (11) (2022)
Jirat Chenbhanich, Anne M Slavotinek, Allison Tam
Impact of the COVID-19 pandemic on medical genetics and genomics training: Perspective from clinical trainees. American journal of medical genetics. Part A 188 (7) (2022)
Joseph T C Shieh, Monica Penon-Portmann, Karen H Y Wong, Michal Levy-Sakin, Michelle Verghese, Anne M Slavotinek, Renata C Gallagher, Bryce A Mendelsohn, Jessica Tenney, Daniah Beleford, Hazel Perry, Stephen K Chow, Andrew G Sharo, Steven E Brenner, Zhongxia Qi, Jingwei Yu, Ophir D Klein, David Martin, Pui-Yan Kwok, Dario Boffelli
Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disorders. NPJ genomic medicine 6 (1) (2021)
Anne H Mardy, Ugur Hodoglugil, Tiffany Yip, Anne M Slavotinek
Third case of Bardet-Biedl syndrome caused by a biallelic variant predicted to affect splicing of IFT74. Clinical genetics 100 (1) (2021)
Joseph T C Shieh, Monica Penon-Portmann, Karen H Y Wong, Michal Levy-Sakin, Michelle Verghese, Anne M Slavotinek, Renata C Gallagher, Bryce A Mendelsohn, Jessica Tenney, Daniah Beleford, Hazel Perry, Stephen K Chow, Andrew G Sharo, Steven E Brenner, Zhongxia Qi, Jingwei Yu, Ophir D Klein, David Martin, Pui-Yan Kwok, Dario Boffelli
Application of full-genome analysis to diagnose rare monogenic disorders. NPJ genomic medicine 6 (1) (2021)
Mari Minatogawa, Ai Unzaki, Hiroko Morisaki, Delfien Syx, Tohru Sonoda, Andreas R Janecke, Anne M Slavotinek, Nicol C Voermans, Yves Lacassie, Roberto Mendoza-Londono, Klaas J Wierenga, Parul Jayakar, William A Gahl, Cynthia J Tifft, Luis E Figuera, Yvonne Hilhorst-Hofstee, Alessandra Maugeri, Ken Ishikawa, Tomoko Kobayashi, Yoko Aoki, Toshihiro Ohura, Hiroshi Kawame, Michihiro Kono, Kosuke Mochida, Chiho Tokorodani, Kiyoshi Kikkawa, Takayuki Morisaki, Tetsuyuki Kobayashi, Takaya Nakane, Akiharu Kubo, Judith D Ranells, Ohsuke Migita, Glenda Sobey, Anupriya Kaur, Masumi Ishikawa, Tomomi Yamaguchi, Naomichi Matsumoto, Fransiska Malfait, Noriko Miyake, Tomoki Kosho
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14). Journal of medical genetics (2021)
Justin O Szot, Anne M Slavotinek, Karen Chong, Oliver Brandau, Marjan M Nezarati, Anna M Cueto-González, Millan S Patel, W Patrick Devine, Shannon Rego, Alicia P Acyinena, Patrick Shannon, Diane Myles-Reid, Susan I Blaser, Tim VAN Mieghem, Halenur Yavuz-Kienle, Heyko Skladny, Kristen Miller, Miereia D T Riera, Silvia A Martínez, Eduardo F Tizzano, Lucie Dupuis, Dimitri J Stavropoulos, Vanda McNiven, Roberto Mendoza-Londono, Alison M Elliott, null null, Robert S Phillips, Gavin Chapman, Sally L Dunwoodie
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder. Human mutation 42 (7) (2021)
Farrah Islam, Stephanie Htun, Li-Wen Lai, Max Krall, Menitha Poranki, Pierre-Marie Martin, Nara Sobreira, Elizabeth S Wohler, Jingwei Yu, Anthony T Moore, Anne M Slavotinek
Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population. Clinical genetics 98 (5) (2020)
Karly Hampshire, Pierre-Marie Martin, Colleen M Carlston, Anne M Slavotinek
Baraitser-Winter cerebrofrontofacial syndrome: Report of two adult siblings. American journal of medical genetics. Part A 182 (8) (2020)
Benjamin D Solomon, Anne M Slavotinek
Announcing a new manuscript category for the American Journal of Medical Genetics Part A: Dispatches from Biotech. American journal of medical genetics. Part A 182 (9) (2020)
Anne M Slavotinek, Benjamin D Solomon
Going forward in a new world. American journal of medical genetics. Part A 182 (7) (2020)
Bryce A Mendelsohn, Daniah T Beleford, Aya Abu-El-Haija, Norah S Alsaleh, Zuhair Rahbeeni, Pierre-Marie Martin, Shannon Rego, Alyssa Huang, Gina Capodanno, Joseph T C Shieh, Jessica Van Ziffle, Neil Risch, Fowzan Sami Alkuraya, Anne M Slavotinek
A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy. American journal of medical genetics. Part A 182 (3) (2019)
Anne M Slavotinek, Maximilian Muenke
Introducing in AJMG Part A: Genetic Syndromes in Adults. American journal of medical genetics. Part A 179 (8) (2019)
Max Krall, Stephanie Htun, Anne M Slavotinek
Use of PTC124 for nonsense suppression therapy targeting BMP4 nonsense variants in vitro and the bmp4st72 allele in zebrafish. PloS one 14 (4) (2019)
Anne M Slavotinek
Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia-microphthalmia. Human genetics 138 (8-9) (2018)
M Krall, S Htun, D Anand, D Hart, S A Lachke, Anne M Slavotinek
A zebrafish model of foxe3 deficiency demonstrates lens and eye defects with dysregulation of key genes involved in cataract formation in humans. Human genetics 137 (4) (2018)
Anne M Slavotinek, Benjamin D Solomon, Maximilian Muenke
Early inspirations from times gone by. American journal of medical genetics. Part A 176 (9) (2018)
Wen-Hann Tan, Lynne M Bird, Anjali Sadhwani, Rene L Barbieri-Welge, Steven A Skinner, Lucia T Horowitz, Carlos A Bacino, Lisa M Noll, Cary Fu, Rachel J Hundley, Logan K Wink, Craig A Erickson, Gregory N Barnes, Anne M Slavotinek, Rita Jeremy, Alexander Rotenberg, Sanjeev V Kothare, Heather E Olson, Annapurna Poduri, Mark P Nespeca, Hillary C Chu, Jennifer M Willen, Kevin F Haas, Edwin J Weeber, Paul A Rufo
A randomized controlled trial of levodopa in patients with Angelman syndrome. American journal of medical genetics. Part A 176 (5) (2017)
Ahmad Alhariri, Katherine Hamilton, Vikash Oza, Kelly Cordoro, Nara L Sobreira, Mary Malloy, Anne M Slavotinek
Clinical report: A patient with a late diagnosis of cerebrotendinous xanthomatosis and a response to treatment. American journal of medical genetics. Part A 173 (8) (2017)
Sarah Eppley, Robert J Hopkin, Bryce Mendelsohn, Anne M Slavotinek
Clinical Report: Warsaw Breakage Syndrome with small radii and fibulae. American journal of medical genetics. Part A 173 (11) (2017)

Anne M Slavotinek.css-eqlu8i{font-size:small;padding-left:4px;} (Anne Slavotinek, A M Slavotinek)

Publication Activity (10 Years)

Top Topics

Top Venues

Anne M Slavotinek (Anne Slavotinek, A M Slavotinek)