Cláudia M B Carvalho (Claudia Carvalho, Claudia M B Carvalho)

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 47

Top Topics

Major Depressive Disorder

Loop Mediated Isothermal Amplification

Top Venues

Nature biotechnology

American journal of medical genetics. Part A

Nucleic acids research

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

Publications

Moritz Smolka, Luis F Paulin, Christopher M Grochowski, Dominic W Horner, Medhat Mahmoud, Sairam Behera, Ester Kalef-Ezra, Mira Gandhi, Karl Hong, Davut Pehlivan, Sonja W Scholz, Cláudia M B Carvalho, Christos Proukakis, Fritz J Sedlazeck
Detection of mosaic and population-level structural variants with Sniffles2. Nature biotechnology (2024)
Moritz Smolka, Luis F Paulin, Christopher M Grochowski, Dominic W Horner, Medhat Mahmoud, Sairam Behera, Ester Kalef-Ezra, Mira Gandhi, Karl Hong, Davut Pehlivan, Sonja W Scholz, Cláudia M B Carvalho, Christos Proukakis, Fritz J Sedlazeck
Publisher Correction: Detection of mosaic and population-level structural variants with Sniffles2. Nature biotechnology (2024)
Moritz Smolka, Luis F Paulin, Christopher M Grochowski, Dominic W Horner, Medhat Mahmoud, Sairam Behera, Ester Kalef-Ezra, Mira Gandhi, Karl Hong, Davut Pehlivan, Sonja W Scholz, Cláudia M B Carvalho, Christos Proukakis, Fritz J Sedlazeck
Publisher Correction: Detection of mosaic and population-level structural variants with Sniffles2. Nature biotechnology (2024)
James R. Lupski, Zain Dardas, Dana Marafi, Ruizhi Duan, Jawid Fatih, Omnia El-Rashidy, Christopher Grochowski, Cláudia M B Carvalho, Shalini Jhangiani, Weimin Bi, Haowei Du, Richard Gibbs, Jennifer E Posey, Daniel G Calame, Maha Saad Zaki
Genomic Balancing Act: Deciphering DNA rearrangements in the Complex Chromosomal Aberration involving 5p15.2, 2q31.1 and 18q21.32. Research square (2024)
Moritz Smolka, Luis F Paulin, Christopher M Grochowski, Dominic W Horner, Medhat Mahmoud, Sairam Behera, Ester Kalef-Ezra, Mira Gandhi, Karl Hong, Davut Pehlivan, Sonja W Scholz, Cláudia M B Carvalho, Christos Proukakis, Fritz J Sedlazeck
Detection of mosaic and population-level structural variants with Sniffles2. Nature biotechnology (2024)
Moritz Smolka, Luis F Paulin, Christopher M Grochowski, Dominic W Horner, Medhat Mahmoud, Sairam Behera, Ester Kalef-Ezra, Mira Gandhi, Karl Hong, Davut Pehlivan, Sonja W Scholz, Cláudia M B Carvalho, Christos Proukakis, Fritz J Sedlazeck
Detection of mosaic and population-level structural variants with Sniffles2. Nature biotechnology (2024)
Haowei Du, Zain Dardas, Angad Jolly, Christopher M Grochowski, Shalini N Jhangiani, He Li, Donna Muzny, Jawid M Fatih, Gozde Yesil, Nursel H Elçioglu, Alper Gezdirici, Dana Marafi, Davut Pehlivan, Daniel G Calame, Cláudia M B Carvalho, Jennifer E Posey, Tomasz Gambin, Zeynep Coban-Akdemir, James R. Lupski
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic acids research 52 (4) (2024)
Moritz Smolka, Luis F Paulin, Christopher M Grochowski, Dominic W Horner, Medhat Mahmoud, Sairam Behera, Ester Kalef-Ezra, Mira Gandhi, Karl Hong, Davut Pehlivan, Sonja W Scholz, Cláudia M B Carvalho, Christos Proukakis, Fritz J Sedlazeck
Publisher Correction: Detection of mosaic and population-level structural variants with Sniffles2. Nature biotechnology (2024)
Moritz Smolka, Luis F Paulin, Christopher M Grochowski, Dominic W Horner, Medhat Mahmoud, Sairam Behera, Ester Kalef-Ezra, Mira Gandhi, Karl Hong, Davut Pehlivan, Sonja W Scholz, Cláudia M B Carvalho, Christos Proukakis, Fritz J Sedlazeck
Detection of mosaic and population-level structural variants with Sniffles2. Nature biotechnology (2024)
Moritz Smolka, Luis F Paulin, Christopher M Grochowski, Dominic W Horner, Medhat Mahmoud, Sairam Behera, Ester Kalef-Ezra, Mira Gandhi, Karl Hong, Davut Pehlivan, Sonja W Scholz, Cláudia M B Carvalho, Christos Proukakis, Fritz J Sedlazeck
Detection of mosaic and population-level structural variants with Sniffles2. Nature biotechnology (2024)
Moritz Smolka, Luis F Paulin, Christopher M Grochowski, Dominic W Horner, Medhat Mahmoud, Sairam Behera, Ester Kalef-Ezra, Mira Gandhi, Karl Hong, Davut Pehlivan, Sonja W Scholz, Cláudia M B Carvalho, Christos Proukakis, Fritz J Sedlazeck
Detection of mosaic and population-level structural variants with Sniffles2. Nature biotechnology (2024)
Zain Dardas, Dana Marafi, Ruizhi Duan, Jawid M Fatih, Omnia F El-Rashidy, Christopher M Grochowski, Cláudia M B Carvalho, Shalini N Jhangiani, Weimin Bi, Haowei Du, Richard A Gibbs, Jennifer E Posey, Daniel G Calame, Maha Saad Zaki, James R. Lupski
Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32. European journal of human genetics : EJHG (2024)
James R. Lupski, Zain Dardas, Dana Marafi, Ruizhi Duan, Jawid Fatih, Omnia El-Rashidy, Christopher Grochowski, Cláudia M B Carvalho, Shalini Jhangiani, Weimin Bi, Haowei Du, Richard Gibbs, Jennifer E Posey, Daniel G Calame, Maha Saad Zaki
Genomic Balancing Act: Deciphering DNA rearrangements in the Complex Chromosomal Aberration involving 5p15.2, 2q31.1 and 18q21.32. Research square (2024)
Moritz Smolka, Luis F Paulin, Christopher M Grochowski, Dominic W Horner, Medhat Mahmoud, Sairam Behera, Ester Kalef-Ezra, Mira Gandhi, Karl Hong, Davut Pehlivan, Sonja W Scholz, Cláudia M B Carvalho, Christos Proukakis, Fritz J Sedlazeck
Detection of mosaic and population-level structural variants with Sniffles2. Nature biotechnology (2024)
Haowei Du, Zain Dardas, Angad Jolly, Christopher M Grochowski, Shalini N Jhangiani, He Li, Donna Muzny, Jawid M Fatih, Gozde Yesil, Nursel H Elçioglu, Alper Gezdirici, Dana Marafi, Davut Pehlivan, Daniel G Calame, Cláudia M B Carvalho, Jennifer E Posey, Tomasz Gambin, Zeynep Coban-Akdemir, James R. Lupski
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic acids research 52 (4) (2024)
James R. Lupski, Zain Dardas, Dana Marafi, Ruizhi Duan, Jawid Fatih, Omnia El-Rashidy, Christopher Grochowski, Cláudia M B Carvalho, Shalini Jhangiani, Weimin Bi, Haowei Du, Richard Gibbs, Jennifer E Posey, Daniel G Calame, Maha Saad Zaki
Genomic Balancing Act: Deciphering DNA rearrangements in the Complex Chromosomal Aberration involving 5p15.2, 2q31.1 and 18q21.32. Research square (2024)
Moritz Smolka, Luis F Paulin, Christopher M Grochowski, Dominic W Horner, Medhat Mahmoud, Sairam Behera, Ester Kalef-Ezra, Mira Gandhi, Karl Hong, Davut Pehlivan, Sonja W Scholz, Cláudia M B Carvalho, Christos Proukakis, Fritz J Sedlazeck
Detection of mosaic and population-level structural variants with Sniffles2. Nature biotechnology (2024)
Moritz Smolka, Luis F Paulin, Christopher M Grochowski, Dominic W Horner, Medhat Mahmoud, Sairam Behera, Ester Kalef-Ezra, Mira Gandhi, Karl Hong, Davut Pehlivan, Sonja W Scholz, Cláudia M B Carvalho, Christos Proukakis, Fritz J Sedlazeck
Publisher Correction: Detection of mosaic and population-level structural variants with Sniffles2. Nature biotechnology (2024)
Moritz Smolka, Luis F Paulin, Christopher M Grochowski, Dominic W Horner, Medhat Mahmoud, Sairam Behera, Ester Kalef-Ezra, Mira Gandhi, Karl Hong, Davut Pehlivan, Sonja W Scholz, Cláudia M B Carvalho, Christos Proukakis, Fritz J Sedlazeck
Publisher Correction: Detection of mosaic and population-level structural variants with Sniffles2. Nature biotechnology (2024)
Moritz Smolka, Luis F Paulin, Christopher M Grochowski, Dominic W Horner, Medhat Mahmoud, Sairam Behera, Ester Kalef-Ezra, Mira Gandhi, Karl Hong, Davut Pehlivan, Sonja W Scholz, Cláudia M B Carvalho, Christos Proukakis, Fritz J Sedlazeck
Publisher Correction: Detection of mosaic and population-level structural variants with Sniffles2. Nature biotechnology (2024)
Moritz Smolka, Luis F Paulin, Christopher M Grochowski, Dominic W Horner, Medhat Mahmoud, Sairam Behera, Ester Kalef-Ezra, Mira Gandhi, Karl Hong, Davut Pehlivan, Sonja W Scholz, Cláudia M B Carvalho, Christos Proukakis, Fritz J Sedlazeck
Detection of mosaic and population-level structural variants with Sniffles2. Nature biotechnology (2024)
Moritz Smolka, Luis F Paulin, Christopher M Grochowski, Dominic W Horner, Medhat Mahmoud, Sairam Behera, Ester Kalef-Ezra, Mira Gandhi, Karl Hong, Davut Pehlivan, Sonja W Scholz, Cláudia M B Carvalho, Christos Proukakis, Fritz J Sedlazeck
Detection of mosaic and population-level structural variants with Sniffles2. Nature biotechnology (2024)
Sameer S Bajikar, Yehezkel Sztainberg, Alexander J Trostle, Harini P Tirumala, Ying-Wooi Wan, Caroline L Harrop, Jesse D Bengtsson, Cláudia M B Carvalho, Davut Pehlivan, Bernhard Suter, Jeffrey L Neul, Zhandong Liu, Paymaan Jafar-Nejad, Frank Rigo, Huda Yaya Zoghbi
Modeling antisense oligonucleotide therapy in MECP2 duplication syndrome human iPSC-derived neurons reveals gene expression programs responsive to MeCP2 levels. Human molecular genetics (2024)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Haowei Du, Zain Dardas, Angad Jolly, Christopher M Grochowski, Shalini N Jhangiani, He Li, Donna Muzny, Jawid M Fatih, Gozde Yesil, Nursel H Elçioglu, Alper Gezdirici, Dana Marafi, Davut Pehlivan, Daniel G Calame, Cláudia M B Carvalho, Jennifer E Posey, Tomasz Gambin, Zeynep Coban-Akdemir, James R. Lupski
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic acids research (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Haowei Du, Zain Dardas, Angad Jolly, Christopher M Grochowski, Shalini N Jhangiani, He Li, Donna Muzny, Jawid M Fatih, Gozde Yesil, Nursel H Elçioglu, Alper Gezdirici, Dana Marafi, Davut Pehlivan, Daniel G Calame, Cláudia M B Carvalho, Jennifer E Posey, Tomasz Gambin, Zeynep Coban-Akdemir, James R. Lupski
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic acids research (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Haowei Du, Zain Dardas, Angad Jolly, Christopher M Grochowski, Shalini N Jhangiani, He Li, Donna Muzny, Jawid M Fatih, Gozde Yesil, Nursel H Elçioglu, Alper Gezdirici, Dana Marafi, Davut Pehlivan, Daniel G Calame, Cláudia M B Carvalho, Jennifer E Posey, Tomasz Gambin, Zeynep Coban-Akdemir, James R. Lupski
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic acids research (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A (2023)
Christopher J Conlon, Amjed Abu-Ghname, Anjali C Raghuram, Matthew J Davis, Diana E Guillen, V Reid Sutton, Cláudia M B Carvalho, Renata S Maricevich
Craniofacial phenotypes associated with Robinow syndrome. American journal of medical genetics. Part A 185 (12) (2020)
Brian J Shayota, Chaofan Zhang, Roman J Shypailo, Juliana Forte Mazzeu, Cláudia M B Carvalho, Vernon Reid Sutton
Characterization of the Robinow syndrome skeletal phenotype, bone micro-architecture, and genotype-phenotype correlations with the osteosclerotic form. American journal of medical genetics. Part A 182 (11) (2020)
Chaofan Zhang, Juliana Forte Mazzeu, Jesper Eisfeldt, Christopher M Grochowski, Janson White, Zeynep C Akdemir, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, Anna Lindstrand, James R. Lupski, V Reid Sutton, Cláudia M B Carvalho
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. American journal of medical genetics. Part A 185 (12) (2020)
David D Schwartz, Rachel H Fein, Cláudia M B Carvalho, Vernon Reid Sutton, Juliana Forte Mazzeu, Marni E Axelrad
Neurocognitive, adaptive, and psychosocial functioning in individuals with Robinow syndrome. American journal of medical genetics. Part A 185 (12) (2020)
Maria Pettersson, Christopher M Grochowski, Josephine Wincent, Jesper Eisfeldt, Amy M Breman, Sau W Cheung, Ana C V Krepischi, Carla Rosenberg, James R. Lupski, Jesper Ottosson, Lovisa Lovmar, Jelena Gacic, Elisabeth S Lundberg, Daniel Nilsson, Cláudia M B Carvalho, Anna Lindstrand
Cytogenetically visible inversions are formed by multiple molecular mechanisms. Human mutation 41 (11) (2020)
Amjed Abu-Ghname, Jeffrey Trost, Matthew J Davis, V Reid Sutton, Chaofan Zhang, Diana E Guillen, Cláudia M B Carvalho, Renata S Maricevich
Extremity anomalies associated with Robinow syndrome. American journal of medical genetics. Part A 185 (12) (2020)
Jesper Eisfeldt, Maria Pettersson, Francesco Vezzi, Josephine Wincent, Max Käller, Joel Gruselius, Daniel Nilsson, Elisabeth Syk Lundberg, Cláudia M B Carvalho, Anna Lindstrand
Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements. PLoS genetics 15 (2) (2019)
Hadia Hijazi, Fernanda S Coelho, Claudia Gonzaga-Jauregui, Laura Bernardini, Soe S Mar, Melanie A Manning, Andrea Hanson-Kahn, SakkuBai Naidu, Siddharth Srivastava, Jennifer A Lee, Julie R Jones, Michael J Friez, Thomas Alberico, Barbara Torres, Ping Fang, Sau Wai Cheung, Xiaofei Song, Angelique Davis-Williams, Carly Jornlin, Patricia A Wight, Pankaj Patyal, Jennifer Taube, Andrea Poretti, Ken Inoue, Feng Zhang, Davut Pehlivan, Cláudia M B Carvalho, Grace M Hobson, James R. Lupski
Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome. Human mutation 41 (1) (2019)
Cláudia M B Carvalho, Zeynep Coban-Akdemir, Hadia Hijazi, Bo Yuan, Matthew Pendleton, Eoghan Harrington, John Beaulaurier, Sissel Juul, Daniel J Turner, Rupa S Kanchi, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, null null, Pawel Stankiewicz, John W Belmont, Chad A Shaw, Sau Wai Cheung, Neil A Hanchard, V Reid Sutton, Patricia I Bader, James R Lupski
Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome. Genome medicine 11 (1) (2019)
Maria Pettersson, Raquel Vaz, Anna Hammarsjö, Jesper Eisfeldt, Cláudia M B Carvalho, Wolfgang Hofmeister, Emma Tham, Eva Horemuzova, Ulrika Voss, Gen Nishimura, Bo Klintberg, Ann Nordgren, Daniel Nilsson, Giedre Grigelioniene, Anna Lindstrand
Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias. Human mutation 39 (10) (2018)
Christopher M Grochowski, Shen Gu, Bo Yuan, Julia Tcw, Kristen J Brennand, Jonathan Sebat, Dheeraj Malhotra, Shane McCarthy, Uwe Rudolph, Anna Lindstrand, Zechen Chong, Deborah L Levy, James R Lupski, Cláudia M B Carvalho
Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes. Human mutation 39 (7) (2018)
Fernanda S Jehee, Valdirene T de Oliveira, Juliana Gurgel-Giannetti, Rafaella X Pietra, Fernando V M Rubatino, Natália V Carobin, Gabrielle S Vianna, Mariana L de Freitas, Karla S Fernandes, Beatriz S V Ribeiro, Hennie T Brüggenwirth, Roza Ali-Amin, null null, Janson J White, Zeynep C Akdemir, Shalini N Jhangiani, Richard A Gibbs, James R Lupski, Monica C Varela, Célia Koiffmann, Carla Rosenberg, Cláudia M B Carvalho
Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins. American journal of medical genetics. Part A 173 (9) (2017)